KEGG   Homo sapiens (human): 4719
Entry
4719              CDS       T01001                                 
Symbol
NDUFS1, CI-75Kd, CI-75k, MC1DN5, PRO1304
Name
(RefSeq) NADH:ubiquinone oxidoreductase core subunit S1
  KO
K03934  NADH dehydrogenase (ubiquinone) Fe-S protein 1 [EC:7.1.1.2]
Organism
hsa  Homo sapiens (human)
Pathway
hsa00190  Oxidative phosphorylation
hsa01100  Metabolic pathways
hsa04714  Thermogenesis
hsa04723  Retrograde endocannabinoid signaling
hsa04932  Non-alcoholic fatty liver disease
hsa05010  Alzheimer disease
hsa05012  Parkinson disease
hsa05014  Amyotrophic lateral sclerosis
hsa05016  Huntington disease
hsa05020  Prion disease
hsa05022  Pathways of neurodegeneration - multiple diseases
hsa05208  Chemical carcinogenesis - reactive oxygen species
hsa05415  Diabetic cardiomyopathy
Module
hsa_M00143  NADH dehydrogenase (ubiquinone) Fe-S protein/flavoprotein complex, mitochondria
Network
nt06460  Alzheimer disease
nt06463  Parkinson disease
nt06464  Amyotrophic lateral sclerosis
nt06466  Pathways of neurodegeneration
nt06529  Thermogenesis
  Element
N00995  Electron transfer in Complex I
N00997  Mutation-caused aberrant Abeta to electron transfer in Complex I
N01042  Mutation-caused aberrant SNCA to electron transfer in Complex I
N01043  Mutation-inactivated PINK1 to electron transfer in Complex I
N01044  MPP+ to electron transfer in Complex I
N01045  Rotenone to electron transfer in Complex I
N01136  Mutation-caused aberrant TDP43 to electron transfer in Complex I
N01691  mitochondrial complex - UCP1 in Thermogenesis
Disease
H00473  Mitochondrial complex I deficiency
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09100 Metabolism
  09102 Energy metabolism
   00190 Oxidative phosphorylation
    4719 (NDUFS1)
 09150 Organismal Systems
  09156 Nervous system
   04723 Retrograde endocannabinoid signaling
    4719 (NDUFS1)
  09159 Environmental adaptation
   04714 Thermogenesis
    4719 (NDUFS1)
 09160 Human Diseases
  09161 Cancer: overview
   05208 Chemical carcinogenesis - reactive oxygen species
    4719 (NDUFS1)
  09164 Neurodegenerative disease
   05010 Alzheimer disease
    4719 (NDUFS1)
   05012 Parkinson disease
    4719 (NDUFS1)
   05014 Amyotrophic lateral sclerosis
    4719 (NDUFS1)
   05016 Huntington disease
    4719 (NDUFS1)
   05020 Prion disease
    4719 (NDUFS1)
   05022 Pathways of neurodegeneration - multiple diseases
    4719 (NDUFS1)
  09166 Cardiovascular disease
   05415 Diabetic cardiomyopathy
    4719 (NDUFS1)
  09167 Endocrine and metabolic disease
   04932 Non-alcoholic fatty liver disease
    4719 (NDUFS1)
Enzymes [BR:hsa01000]
 7. Translocases
  7.1  Catalysing the translocation of protons
   7.1.1  Linked to oxidoreductase reactions
    7.1.1.2  NADH:ubiquinone reductase (H+-translocating)
     4719 (NDUFS1)
SSDB
Motif
Pfam: Molybdopterin Fer2_4 NADH-G_4Fe-4S_3 NADH_dhqG_C Fer2
Other DBs
NCBI-GeneID: 4719
NCBI-ProteinID: NP_004997
OMIM: 157655
HGNC: 7707
Ensembl: ENSG00000023228
UniProt: P28331 E5KRK5
Structure
LinkDB
Position
2:complement(206114817..206159444)
AA seq 727 aa
MLRIPVRKALVGLSKSPKGCVRTTATAASNLIEVFVDGQSVMVEPGTTVLQACEKVGMQI
PRFCYHERLSVAGNCRMCLVEIEKAPKVVAACAMPVMKGWNILTNSEKSKKAREGVMEFL
LANHPLDCPICDQGGECDLQDQSMMFGNDRSRFLEGKRAVEDKNIGPLVKTIMTRCIQCT
RCIRFASEIAGVDDLGTTGRGNDMQVGTYIEKMFMSELSGNIIDICPVGALTSKPYAFTA
RPWETRKTESIDVMDAVGSNIVVSTRTGEVMRILPRMHEDINEEWISDKTRFAYDGLKRQ
RLTEPMVRNEKGLLTYTSWEDALSRVAGMLQSFQGKDVAAIAGGLVDAEALVALKDLLNR
VDSDTLCTEEVFPTAGAGTDLRSNYLLNTTIAGVEEADVVLLVGTNPRFEAPLFNARIRK
SWLHNDLKVALIGSPVDLTYTYDHLGDSPKILQDIASGSHPFSQVLKEAKKPMVVLGSSA
LQRNDGAAILAAVSSIAQKIRMTSGVTGDWKVMNILHRIASQVAALDLGYKPGVEAIRKN
PPKVLFLLGADGGCITRQDLPKDCFIIYQGHHGDVGAPIADVILPGAAYTEKSATYVNTE
GRAQQTKVAVTPPGLAREDWKIIRALSEIAGMTLPYDTLDQVRNRLEEVSPNLVRYDDIE
GANYFQQANELSKLVNQQLLADPLVPPQLTIKDFYMTDSISRASQTMAKCVKAVTEGAQA
VEEPSIC
NT seq 2184 nt   +upstreamnt  +downstreamnt
atgttaaggatacctgtaagaaaggccttagtaggcctttctaagtctcctaaaggatgt
gttcgaacaactgccacagcagcaagcaacttgattgaagtatttgttgatggtcagtct
gtcatggtggaaccgggaacgaccgtcctccaagcttgtgagaaggttggcatgcagatc
cctcgattctgttatcatgaaaggttgtctgttgctggaaactgcaggatgtgccttgtt
gaaattgagaaagcccctaaggttgtagctgcttgtgccatgccagtaatgaagggttgg
aatatcctaacaaactcagaaaaatccaaaaaagccagggaaggtgtgatggagttctta
ttagcaaatcacccattggactgtcctatttgtgaccagggaggtgaatgtgatctgcag
gaccagtccatgatgtttggaaatgataggagccgatttttagaggggaagcgtgctgtg
gaagacaagaacattgggccattggtaaagaccatcatgacaagatgtatacagtgtact
cgctgcatcaggtttgcaagtgagattgcaggagtagatgatttgggaacaacaggcaga
ggaaatgatatgcaagttggcacatacattgaaaagatgttcatgtctgaactgtctggg
aatatcattgatatctgccctgtaggtgccctaacctctaagccctatgcctttactgcc
cggccttgggaaacaagaaagacagaatccattgatgtaatggatgcggttggaagtaat
attgtggttagcacaagaactggagaagtgatgaggattttgccacgtatgcatgaggac
atcaatgaagagtggatctctgataaaaccagatttgcctatgatgggctaaaacgtcaa
agacttaccgagccaatggtcagaaatgaaaaagggcttttaacctatacttcttgggag
gatgcgctctctcgcgtagctggaatgttgcagagttttcaaggcaaagatgtggcagca
attgcaggtggcttggtggatgctgaagccctggtagctctcaaagatttgcttaataga
gtggactctgacaccttatgcactgaagaggtcttccccactgcaggagctggcacagat
ttgcgttccaattatcttcttaatactacaattgctggtgtggaagaggcagatgttgtt
cttctggttggtacaaacccacgttttgaggcaccactgtttaatgctagaattcgaaag
agctggctgcataatgacttaaaagtggcccttataggcagtccagtggacctcacttac
acatatgaccacctgggagactcccccaaaattcttcaagacattgcttcgggaagccat
ccatttagccaggtcctaaaggaagctaaaaaaccaatggtggttttaggcagttctgca
ctccaaagaaatgatggagcagcaattcttgcagctgtttctagcattgcacaaaagatt
cggatgactagtggtgttactggtgattggaaagttatgaatatccttcataggattgca
agtcaagtagctgctttggaccttggctataagcctggggtggaagcaattcggaagaac
cctcccaaggtgctgtttctcctgggagcagatggaggttgtatcacacgacaggatttg
ccaaaggattgtttcattatttatcaaggacatcatggtgatgttggggctcccatagct
gatgttattctcccaggagctgcttacacagagaagtctgctacatatgtcaacactgag
ggtagagctcagcagactaaggtagcagtgacacctcctggcttggcaagagaagactgg
aaaattataagagcactctctgagattgctggaatgactcttccatatgatactctggat
caagtaaggaacagattggaagaagtctctcctaatcttgttcgatatgatgatattgaa
ggggctaattacttccagcaagcaaatgagctctcaaagctagtgaaccagcagcttctt
gctgacccacttgttccacctcagctaactataaaagacttctacatgacagattcaatt
agcagagcctcacagacaatggccaaatgtgtcaaagctgtcacagagggtgcccaggca
gtagaggaaccatccatatgctga

KEGG   Homo sapiens (human): 4720
Entry
4720              CDS       T01001                                 
Symbol
NDUFS2, CI-49, LHONAR2, MC1DN6
Name
(RefSeq) NADH:ubiquinone oxidoreductase core subunit S2
  KO
K03935  NADH dehydrogenase (ubiquinone) Fe-S protein 2 [EC:7.1.1.2]
Organism
hsa  Homo sapiens (human)
Pathway
hsa00190  Oxidative phosphorylation
hsa01100  Metabolic pathways
hsa04714  Thermogenesis
hsa04723  Retrograde endocannabinoid signaling
hsa04932  Non-alcoholic fatty liver disease
hsa05010  Alzheimer disease
hsa05012  Parkinson disease
hsa05014  Amyotrophic lateral sclerosis
hsa05016  Huntington disease
hsa05020  Prion disease
hsa05022  Pathways of neurodegeneration - multiple diseases
hsa05208  Chemical carcinogenesis - reactive oxygen species
hsa05415  Diabetic cardiomyopathy
Module
hsa_M00143  NADH dehydrogenase (ubiquinone) Fe-S protein/flavoprotein complex, mitochondria
Network
nt06460  Alzheimer disease
nt06463  Parkinson disease
nt06464  Amyotrophic lateral sclerosis
nt06466  Pathways of neurodegeneration
nt06529  Thermogenesis
  Element
N00995  Electron transfer in Complex I
N00997  Mutation-caused aberrant Abeta to electron transfer in Complex I
N01042  Mutation-caused aberrant SNCA to electron transfer in Complex I
N01043  Mutation-inactivated PINK1 to electron transfer in Complex I
N01044  MPP+ to electron transfer in Complex I
N01045  Rotenone to electron transfer in Complex I
N01136  Mutation-caused aberrant TDP43 to electron transfer in Complex I
N01691  mitochondrial complex - UCP1 in Thermogenesis
Disease
H00473  Mitochondrial complex I deficiency
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09100 Metabolism
  09102 Energy metabolism
   00190 Oxidative phosphorylation
    4720 (NDUFS2)
 09150 Organismal Systems
  09156 Nervous system
   04723 Retrograde endocannabinoid signaling
    4720 (NDUFS2)
  09159 Environmental adaptation
   04714 Thermogenesis
    4720 (NDUFS2)
 09160 Human Diseases
  09161 Cancer: overview
   05208 Chemical carcinogenesis - reactive oxygen species
    4720 (NDUFS2)
  09164 Neurodegenerative disease
   05010 Alzheimer disease
    4720 (NDUFS2)
   05012 Parkinson disease
    4720 (NDUFS2)
   05014 Amyotrophic lateral sclerosis
    4720 (NDUFS2)
   05016 Huntington disease
    4720 (NDUFS2)
   05020 Prion disease
    4720 (NDUFS2)
   05022 Pathways of neurodegeneration - multiple diseases
    4720 (NDUFS2)
  09166 Cardiovascular disease
   05415 Diabetic cardiomyopathy
    4720 (NDUFS2)
  09167 Endocrine and metabolic disease
   04932 Non-alcoholic fatty liver disease
    4720 (NDUFS2)
Enzymes [BR:hsa01000]
 7. Translocases
  7.1  Catalysing the translocation of protons
   7.1.1  Linked to oxidoreductase reactions
    7.1.1.2  NADH:ubiquinone reductase (H+-translocating)
     4720 (NDUFS2)
SSDB
Motif
Pfam: Complex1_49kDa NiFeSe_Hases
Other DBs
NCBI-GeneID: 4720
NCBI-ProteinID: NP_004541
OMIM: 602985
HGNC: 7708
Ensembl: ENSG00000158864
UniProt: O75306
Structure
LinkDB
Position
1:161197417..161214395
AA seq 463 aa
MAALRALCGFRGVAAQVLRPGAGVRLPIQPSRGVRQWQPDVEWAQQFGGAVMYPSKETAH
WKPPPWNDVDPPKDTIVKNITLNFGPQHPAAHGVLRLVMELSGEMVRKCDPHIGLLHRGT
EKLIEYKTYLQALPYFDRLDYVSMMCNEQAYSLAVEKLLNIRPPPRAQWIRVLFGEITRL
LNHIMAVTTHALDLGAMTPFFWLFEEREKMFEFYERVSGARMHAAYIRPGGVHQDLPLGL
MDDIYQFSKNFSLRLDELEELLTNNRIWRNRTIDIGVVTAEEALNYGFSGVMLRGSGIQW
DLRKTQPYDVYDQVEFDVPVGSRGDCYDRYLCRVEEMRQSLRIIAQCLNKMPPGEIKVDD
AKVSPPKRAEMKTSMESLIHHFKLYTEGYQVPPGATYTAIEAPKGEFGVYLVSDGSSRPY
RCKIKAPGFAHLAGLDKMSKGHMLADVVAIIGTQDIVFGEVDR
NT seq 1392 nt   +upstreamnt  +downstreamnt
atggcggcgctgagggctttgtgcggcttccggggcgtcgcggcccaggtgctgcggcct
ggggctggagtccgattgccgattcagcccagcagaggtgttcggcagtggcagccagat
gtggaatgggcacagcagtttgggggagctgttatgtacccaagcaaagaaacagcccac
tggaagcctccaccttggaatgatgtggaccctccaaaggacacaattgtgaagaacatt
accctgaactttgggccccaacacccagcagcgcatggtgtcctgcgactagtgatggaa
ttgagtggggagatggtgcggaagtgtgatcctcacatcgggctcctgcaccgaggcact
gagaagctcattgaatacaagacctatcttcaggcccttccatactttgaccggctagac
tatgtgtccatgatgtgtaacgaacaggcctattctctagctgtggagaagttgctaaac
atccggcctcctcctcgggcacagtggatccgagtgctgtttggagaaatcacacgtttg
ttgaaccacatcatggctgtgaccacacatgccctggaccttggggccatgacccctttc
ttctggctgtttgaagaaagggagaagatgtttgagttctacgagcgagtgtctggagcc
cgaatgcatgctgcttatatccggccaggaggagtgcaccaggacctaccccttgggctt
atggatgacatttatcagttttctaagaacttctctcttcggcttgatgagttggaggag
ttgctgaccaacaataggatctggcgaaatcggacaattgacattggggttgtaacagca
gaagaagcacttaactatggttttagtggagtgatgcttcggggctcaggcatccagtgg
gacctgcggaagacccagccctatgatgtttacgaccaggttgagtttgatgttcctgtt
ggttctcgaggggactgctatgataggtacctgtgccgggtggaggagatgcgccagtcc
ctgagaattatcgcacagtgtctaaacaagatgcctcctggggagatcaaggttgatgat
gccaaagtgtctccacctaagcgagcagagatgaagacttccatggagtcactgattcat
cactttaagttgtatactgagggctaccaagttcctccaggagccacatatactgccatt
gaggctcccaagggagagtttggggtgtacctggtgtctgatggcagcagccgcccttat
cgatgcaagatcaaggctcctggttttgcccatctggctggtttggacaagatgtctaag
ggacacatgttggcagatgtcgttgccatcataggtacccaagatattgtatttggagaa
gtagatcggtga

KEGG   Homo sapiens (human): 4722
Entry
4722              CDS       T01001                                 
Symbol
NDUFS3, CI-30, MC1DN8
Name
(RefSeq) NADH:ubiquinone oxidoreductase core subunit S3
  KO
K03936  NADH dehydrogenase (ubiquinone) Fe-S protein 3 [EC:7.1.1.2]
Organism
hsa  Homo sapiens (human)
Pathway
hsa00190  Oxidative phosphorylation
hsa01100  Metabolic pathways
hsa04714  Thermogenesis
hsa04723  Retrograde endocannabinoid signaling
hsa04932  Non-alcoholic fatty liver disease
hsa05010  Alzheimer disease
hsa05012  Parkinson disease
hsa05014  Amyotrophic lateral sclerosis
hsa05016  Huntington disease
hsa05020  Prion disease
hsa05022  Pathways of neurodegeneration - multiple diseases
hsa05208  Chemical carcinogenesis - reactive oxygen species
hsa05415  Diabetic cardiomyopathy
Module
hsa_M00143  NADH dehydrogenase (ubiquinone) Fe-S protein/flavoprotein complex, mitochondria
Network
nt06460  Alzheimer disease
nt06463  Parkinson disease
nt06464  Amyotrophic lateral sclerosis
nt06466  Pathways of neurodegeneration
nt06529  Thermogenesis
  Element
N00995  Electron transfer in Complex I
N00997  Mutation-caused aberrant Abeta to electron transfer in Complex I
N01042  Mutation-caused aberrant SNCA to electron transfer in Complex I
N01043  Mutation-inactivated PINK1 to electron transfer in Complex I
N01044  MPP+ to electron transfer in Complex I
N01045  Rotenone to electron transfer in Complex I
N01136  Mutation-caused aberrant TDP43 to electron transfer in Complex I
N01691  mitochondrial complex - UCP1 in Thermogenesis
Disease
H00473  Mitochondrial complex I deficiency
H01354  Leigh syndrome
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09100 Metabolism
  09102 Energy metabolism
   00190 Oxidative phosphorylation
    4722 (NDUFS3)
 09150 Organismal Systems
  09156 Nervous system
   04723 Retrograde endocannabinoid signaling
    4722 (NDUFS3)
  09159 Environmental adaptation
   04714 Thermogenesis
    4722 (NDUFS3)
 09160 Human Diseases
  09161 Cancer: overview
   05208 Chemical carcinogenesis - reactive oxygen species
    4722 (NDUFS3)
  09164 Neurodegenerative disease
   05010 Alzheimer disease
    4722 (NDUFS3)
   05012 Parkinson disease
    4722 (NDUFS3)
   05014 Amyotrophic lateral sclerosis
    4722 (NDUFS3)
   05016 Huntington disease
    4722 (NDUFS3)
   05020 Prion disease
    4722 (NDUFS3)
   05022 Pathways of neurodegeneration - multiple diseases
    4722 (NDUFS3)
  09166 Cardiovascular disease
   05415 Diabetic cardiomyopathy
    4722 (NDUFS3)
  09167 Endocrine and metabolic disease
   04932 Non-alcoholic fatty liver disease
    4722 (NDUFS3)
Enzymes [BR:hsa01000]
 7. Translocases
  7.1  Catalysing the translocation of protons
   7.1.1  Linked to oxidoreductase reactions
    7.1.1.2  NADH:ubiquinone reductase (H+-translocating)
     4722 (NDUFS3)
SSDB
Motif
Pfam: Complex1_30kDa
Other DBs
NCBI-GeneID: 4722
NCBI-ProteinID: NP_004542
OMIM: 603846
HGNC: 7710
Ensembl: ENSG00000213619
UniProt: O75489
Structure
LinkDB
Position
11:47579074..47584562
AA seq 264 aa
MAAAAVARLWWRGILGASALTRGTGRPSVLLLPVRRESAGADTRPTVRPRNDVAHKQLSA
FGEYVAEILPKYVQQVQVSCFNELEVCIHPDGVIPVLTFLRDHTNAQFKSLVDLTAVDVP
TRQNRFEIVYNLLSLRFNSRIRVKTYTDELTPIESAVSVFKAANWYEREIWDMFGVFFAN
HPDLRRILTDYGFEGHPFRKDFPLSGYVELRYDDEVKRVVAEPVELAQEFRKFDLNSPWE
AFPVYRQPPESLKLEAGDKKPDAK
NT seq 795 nt   +upstreamnt  +downstreamnt
atggcggcggcggcggtagccaggctgtggtggcgcgggatcttgggggcctcggcgctg
accagggggactgggcgaccctccgttctgttgctgccggtgaggcgggagagcgccggg
gccgacacgcgccccactgtcagaccacggaatgatgtggcccacaagcagctctcagct
tttggagagtatgtggctgaaatcttgcccaagtatgtccaacaagttcaggtgtcctgc
ttcaatgagttagaggtctgtatccatcctgatggcgtcatcccagtgctgactttcctc
agggatcacaccaatgcacagttcaaatctctggttgacttgacagcagtggacgtccca
actcggcaaaaccgttttgagattgtctacaacctgttgtctctgcgcttcaactcacgg
atccgtgtgaagacctacacagatgagctgacgcccattgagtctgctgtctctgtgttc
aaggcagccaactggtatgaaagggagatctgggacatgtttggagtcttctttgctaac
caccctgatctaagaaggatcctgacagattatggcttcgagggacatcctttccggaaa
gactttcctctatctggctatgttgagttacgttatgatgatgaagtgaagcgggtggtg
gcagagccggtggagttggcccaagagttccgcaaatttgacctgaacagcccctgggag
gctttcccagtctatcgccaacccccggagagtctcaagcttgaagccggagacaagaag
cctgatgccaagtag

KEGG   Homo sapiens (human): 4724
Entry
4724              CDS       T01001                                 
Symbol
NDUFS4, AQDQ, CI-18, CI-18_kDa, CI-AQDQ, MC1DN1
Name
(RefSeq) NADH:ubiquinone oxidoreductase subunit S4
  KO
K03937  NADH dehydrogenase (ubiquinone) Fe-S protein 4
Organism
hsa  Homo sapiens (human)
Pathway
hsa00190  Oxidative phosphorylation
hsa01100  Metabolic pathways
hsa04714  Thermogenesis
hsa04723  Retrograde endocannabinoid signaling
hsa04932  Non-alcoholic fatty liver disease
hsa05010  Alzheimer disease
hsa05012  Parkinson disease
hsa05014  Amyotrophic lateral sclerosis
hsa05016  Huntington disease
hsa05020  Prion disease
hsa05022  Pathways of neurodegeneration - multiple diseases
hsa05208  Chemical carcinogenesis - reactive oxygen species
hsa05415  Diabetic cardiomyopathy
Module
hsa_M00143  NADH dehydrogenase (ubiquinone) Fe-S protein/flavoprotein complex, mitochondria
Network
nt06460  Alzheimer disease
nt06463  Parkinson disease
nt06464  Amyotrophic lateral sclerosis
nt06466  Pathways of neurodegeneration
nt06529  Thermogenesis
  Element
N00995  Electron transfer in Complex I
N00997  Mutation-caused aberrant Abeta to electron transfer in Complex I
N01042  Mutation-caused aberrant SNCA to electron transfer in Complex I
N01043  Mutation-inactivated PINK1 to electron transfer in Complex I
N01044  MPP+ to electron transfer in Complex I
N01045  Rotenone to electron transfer in Complex I
N01136  Mutation-caused aberrant TDP43 to electron transfer in Complex I
N01691  mitochondrial complex - UCP1 in Thermogenesis
Disease
H00473  Mitochondrial complex I deficiency
H01354  Leigh syndrome
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09100 Metabolism
  09102 Energy metabolism
   00190 Oxidative phosphorylation
    4724 (NDUFS4)
 09150 Organismal Systems
  09156 Nervous system
   04723 Retrograde endocannabinoid signaling
    4724 (NDUFS4)
  09159 Environmental adaptation
   04714 Thermogenesis
    4724 (NDUFS4)
 09160 Human Diseases
  09161 Cancer: overview
   05208 Chemical carcinogenesis - reactive oxygen species
    4724 (NDUFS4)
  09164 Neurodegenerative disease
   05010 Alzheimer disease
    4724 (NDUFS4)
   05012 Parkinson disease
    4724 (NDUFS4)
   05014 Amyotrophic lateral sclerosis
    4724 (NDUFS4)
   05016 Huntington disease
    4724 (NDUFS4)
   05020 Prion disease
    4724 (NDUFS4)
   05022 Pathways of neurodegeneration - multiple diseases
    4724 (NDUFS4)
  09166 Cardiovascular disease
   05415 Diabetic cardiomyopathy
    4724 (NDUFS4)
  09167 Endocrine and metabolic disease
   04932 Non-alcoholic fatty liver disease
    4724 (NDUFS4)
SSDB
Motif
Pfam: NDUS4 CSN8_PSD8_EIF3K
Other DBs
NCBI-GeneID: 4724
NCBI-ProteinID: NP_002486
OMIM: 602694
HGNC: 7711
Ensembl: ENSG00000164258
UniProt: O43181 A0A0S2Z433
Structure
LinkDB
Position
5:53560639..53683338
AA seq 175 aa
MAAVSMSVVLRQTLWRRRAVAVAALSVSRVPTRSLRTSTWRLAQDQTQDTQLITVDEKLD
ITTLTGVPEEHIKTRKVRIFVPARNNMQSGVNNTKKWKMEFDTRERWENPLMGWASTADP
LSNMVLTFSTKEDAVSFAEKNGWSYDIEERKVPKPKSKSYGANFSWNKRTRVSTK
NT seq 528 nt   +upstreamnt  +downstreamnt
atggcggcggtgtcaatgtcagtggtactgaggcagacgttgtggcggagaagggcagtg
gctgtagctgccctttccgtttccagggttccgaccaggtcgttgaggacttccacatgg
agattggcacaggaccagactcaagacacacaactcataacagttgatgaaaaattggat
atcactactttaactggagttccagaagagcatataaaaactagaaaagtcaggatcttt
gttcctgctcgcaataacatgcagtctggagtaaacaacacaaagaaatggaagatggag
tttgataccagagagcgatgggaaaatcctttgatgggttgggcatcaacggctgatccc
ttatccaacatggttctaaccttcagtactaaagaagatgcagtttcctttgcagaaaaa
aatggatggagctatgacattgaagagaggaaggttccaaaacccaagtccaagtcttat
ggtgcaaacttttcttggaacaaaagaacaagagtatccacaaaatag

KEGG   Homo sapiens (human): 4726
Entry
4726              CDS       T01001                                 
Symbol
NDUFS6, CI-13kA, CI-13kD-A, CI13KDA, MC1DN9
Name
(RefSeq) NADH:ubiquinone oxidoreductase subunit S6
  KO
K03939  NADH dehydrogenase (ubiquinone) Fe-S protein 6
Organism
hsa  Homo sapiens (human)
Pathway
hsa00190  Oxidative phosphorylation
hsa01100  Metabolic pathways
hsa04714  Thermogenesis
hsa04723  Retrograde endocannabinoid signaling
hsa04932  Non-alcoholic fatty liver disease
hsa05010  Alzheimer disease
hsa05012  Parkinson disease
hsa05014  Amyotrophic lateral sclerosis
hsa05016  Huntington disease
hsa05020  Prion disease
hsa05022  Pathways of neurodegeneration - multiple diseases
hsa05208  Chemical carcinogenesis - reactive oxygen species
hsa05415  Diabetic cardiomyopathy
Module
hsa_M00143  NADH dehydrogenase (ubiquinone) Fe-S protein/flavoprotein complex, mitochondria
Network
nt06460  Alzheimer disease
nt06463  Parkinson disease
nt06464  Amyotrophic lateral sclerosis
nt06466  Pathways of neurodegeneration
nt06529  Thermogenesis
  Element
N00995  Electron transfer in Complex I
N00997  Mutation-caused aberrant Abeta to electron transfer in Complex I
N01042  Mutation-caused aberrant SNCA to electron transfer in Complex I
N01043  Mutation-inactivated PINK1 to electron transfer in Complex I
N01044  MPP+ to electron transfer in Complex I
N01045  Rotenone to electron transfer in Complex I
N01136  Mutation-caused aberrant TDP43 to electron transfer in Complex I
N01691  mitochondrial complex - UCP1 in Thermogenesis
Disease
H00473  Mitochondrial complex I deficiency
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09100 Metabolism
  09102 Energy metabolism
   00190 Oxidative phosphorylation
    4726 (NDUFS6)
 09150 Organismal Systems
  09156 Nervous system
   04723 Retrograde endocannabinoid signaling
    4726 (NDUFS6)
  09159 Environmental adaptation
   04714 Thermogenesis
    4726 (NDUFS6)
 09160 Human Diseases
  09161 Cancer: overview
   05208 Chemical carcinogenesis - reactive oxygen species
    4726 (NDUFS6)
  09164 Neurodegenerative disease
   05010 Alzheimer disease
    4726 (NDUFS6)
   05012 Parkinson disease
    4726 (NDUFS6)
   05014 Amyotrophic lateral sclerosis
    4726 (NDUFS6)
   05016 Huntington disease
    4726 (NDUFS6)
   05020 Prion disease
    4726 (NDUFS6)
   05022 Pathways of neurodegeneration - multiple diseases
    4726 (NDUFS6)
  09166 Cardiovascular disease
   05415 Diabetic cardiomyopathy
    4726 (NDUFS6)
  09167 Endocrine and metabolic disease
   04932 Non-alcoholic fatty liver disease
    4726 (NDUFS6)
SSDB
Motif
Pfam: zf-CHCC Thiolase_C
Other DBs
NCBI-GeneID: 4726
NCBI-ProteinID: NP_004544
OMIM: 603848
HGNC: 7713
Ensembl: ENSG00000145494
UniProt: O75380 Q6IBC4
Structure
LinkDB
Position
5:1801407..1816048
AA seq 124 aa
MAAAMTFCRLLNRCGEAARSLPLGARCFGVRVSPTGEKVTHTGQVYDDKDYRRIRFVGRQ
KEVNENFAIDLIAEQPVSEVETRVIACDGGGGALGHPKVYINLDKETKTGTCGYCGLQFR
QHHH
NT seq 375 nt   +upstreamnt  +downstreamnt
atggcggcggcgatgaccttctgccggctgctgaaccggtgtggcgaggcggcgcggagc
ctgcccctgggcgccaggtgtttcggggtgcgggtctcgccgaccggggagaaggtcacg
cacactggccaggtttatgatgataaagactacaggagaattcggtttgtaggtcgtcag
aaagaggtgaatgaaaactttgccattgatttgatagcagagcagcccgtgagcgaggtg
gagactcgggtgatagcgtgcgatggcggcgggggagctcttggccacccaaaagtgtat
ataaacttggacaaagaaacaaaaaccggcacatgcggttactgtgggctccagttcaga
cagcaccaccactag

KEGG   Homo sapiens (human): 374291
Entry
374291            CDS       T01001                                 
Symbol
NDUFS7, CI-20, CI-20KD, MC1DN3, MY017, PSST
Name
(RefSeq) NADH:ubiquinone oxidoreductase core subunit S7
  KO
K03940  NADH dehydrogenase (ubiquinone) Fe-S protein 7 [EC:7.1.1.2]
Organism
hsa  Homo sapiens (human)
Pathway
hsa00190  Oxidative phosphorylation
hsa01100  Metabolic pathways
hsa04714  Thermogenesis
hsa04723  Retrograde endocannabinoid signaling
hsa04932  Non-alcoholic fatty liver disease
hsa05010  Alzheimer disease
hsa05012  Parkinson disease
hsa05014  Amyotrophic lateral sclerosis
hsa05016  Huntington disease
hsa05020  Prion disease
hsa05022  Pathways of neurodegeneration - multiple diseases
hsa05208  Chemical carcinogenesis - reactive oxygen species
hsa05415  Diabetic cardiomyopathy
Module
hsa_M00143  NADH dehydrogenase (ubiquinone) Fe-S protein/flavoprotein complex, mitochondria
Network
nt06460  Alzheimer disease
nt06463  Parkinson disease
nt06464  Amyotrophic lateral sclerosis
nt06466  Pathways of neurodegeneration
nt06529  Thermogenesis
  Element
N00995  Electron transfer in Complex I
N00997  Mutation-caused aberrant Abeta to electron transfer in Complex I
N01042  Mutation-caused aberrant SNCA to electron transfer in Complex I
N01043  Mutation-inactivated PINK1 to electron transfer in Complex I
N01044  MPP+ to electron transfer in Complex I
N01045  Rotenone to electron transfer in Complex I
N01136  Mutation-caused aberrant TDP43 to electron transfer in Complex I
N01691  mitochondrial complex - UCP1 in Thermogenesis
Disease
H00473  Mitochondrial complex I deficiency
H01354  Leigh syndrome
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09100 Metabolism
  09102 Energy metabolism
   00190 Oxidative phosphorylation
    374291 (NDUFS7)
 09150 Organismal Systems
  09156 Nervous system
   04723 Retrograde endocannabinoid signaling
    374291 (NDUFS7)
  09159 Environmental adaptation
   04714 Thermogenesis
    374291 (NDUFS7)
 09160 Human Diseases
  09161 Cancer: overview
   05208 Chemical carcinogenesis - reactive oxygen species
    374291 (NDUFS7)
  09164 Neurodegenerative disease
   05010 Alzheimer disease
    374291 (NDUFS7)
   05012 Parkinson disease
    374291 (NDUFS7)
   05014 Amyotrophic lateral sclerosis
    374291 (NDUFS7)
   05016 Huntington disease
    374291 (NDUFS7)
   05020 Prion disease
    374291 (NDUFS7)
   05022 Pathways of neurodegeneration - multiple diseases
    374291 (NDUFS7)
  09166 Cardiovascular disease
   05415 Diabetic cardiomyopathy
    374291 (NDUFS7)
  09167 Endocrine and metabolic disease
   04932 Non-alcoholic fatty liver disease
    374291 (NDUFS7)
Enzymes [BR:hsa01000]
 7. Translocases
  7.1  Catalysing the translocation of protons
   7.1.1  Linked to oxidoreductase reactions
    7.1.1.2  NADH:ubiquinone reductase (H+-translocating)
     374291 (NDUFS7)
SSDB
Motif
Pfam: Oxidored_q6 Secapin
Other DBs
NCBI-GeneID: 374291
NCBI-ProteinID: NP_077718
OMIM: 601825
HGNC: 7714
Ensembl: ENSG00000115286
UniProt: O75251 Q7LD69
Structure
LinkDB
Position
19:1383907..1395584
AA seq 213 aa
MAVLSAPGLRGFRILGLRSSVGPAVQARGVHQSVATDGPSSTQPALPKARAVAPKPSSRG
EYVVAKLDDLVNWARRSSLWPMTFGLACCAVEMMHMAAPRYDMDRFGVVFRASPRQSDVM
IVAGTLTNKMAPALRKVYDQMPEPRYVVSMGSCANGGGYYHYSYSVVRGCDRIVPVDIYI
PGCPPTAEALLYGILQLQRKIKRERRLQIWYRR
NT seq 642 nt   +upstreamnt  +downstreamnt
atggcggtgctgtcagctcctggcctgcgcggcttccggatccttggtctgcgctccagc
gtgggcccggctgtgcaggcacgaggtgtccatcagagcgtggccaccgatggcccaagc
agcacccagcctgccctgccaaaggccagagccgtggctcccaaacccagcagccggggc
gagtatgtggtggccaagctggatgacctcgtcaactgggcccgccggagttctctgtgg
cccatgaccttcggcctggcctgctgcgccgtggagatgatgcacatggcagcaccccgc
tacgacatggaccgctttggcgtggtcttccgcgccagcccgcgccagtccgacgtcatg
atcgtggccggcacactcaccaacaagatggccccagcgcttcgcaaggtctacgaccag
atgccggagccgcgctacgtggtctccatggggagctgcgccaacggaggaggctactac
cactattcctactcggtggtgaggggctgcgaccgcatcgtgcccgtggacatctacatc
ccaggctgcccacctacggccgaggccctgctctacggcatcctgcagctgcagaggaag
atcaagcgggagcggaggctgcagatctggtaccgcaggtag

KEGG   Homo sapiens (human): 4728
Entry
4728              CDS       T01001                                 
Symbol
NDUFS8, CI-23k, CI23KD, MC1DN2, TYKY
Name
(RefSeq) NADH:ubiquinone oxidoreductase core subunit S8
  KO
K03941  NADH dehydrogenase (ubiquinone) Fe-S protein 8 [EC:7.1.1.2]
Organism
hsa  Homo sapiens (human)
Pathway
hsa00190  Oxidative phosphorylation
hsa01100  Metabolic pathways
hsa04714  Thermogenesis
hsa04723  Retrograde endocannabinoid signaling
hsa04932  Non-alcoholic fatty liver disease
hsa05010  Alzheimer disease
hsa05012  Parkinson disease
hsa05014  Amyotrophic lateral sclerosis
hsa05016  Huntington disease
hsa05020  Prion disease
hsa05022  Pathways of neurodegeneration - multiple diseases
hsa05208  Chemical carcinogenesis - reactive oxygen species
hsa05415  Diabetic cardiomyopathy
Module
hsa_M00143  NADH dehydrogenase (ubiquinone) Fe-S protein/flavoprotein complex, mitochondria
Network
nt06460  Alzheimer disease
nt06463  Parkinson disease
nt06464  Amyotrophic lateral sclerosis
nt06466  Pathways of neurodegeneration
nt06529  Thermogenesis
  Element
N00995  Electron transfer in Complex I
N00997  Mutation-caused aberrant Abeta to electron transfer in Complex I
N01042  Mutation-caused aberrant SNCA to electron transfer in Complex I
N01043  Mutation-inactivated PINK1 to electron transfer in Complex I
N01044  MPP+ to electron transfer in Complex I
N01045  Rotenone to electron transfer in Complex I
N01136  Mutation-caused aberrant TDP43 to electron transfer in Complex I
N01691  mitochondrial complex - UCP1 in Thermogenesis
Disease
H00473  Mitochondrial complex I deficiency
H01354  Leigh syndrome
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09100 Metabolism
  09102 Energy metabolism
   00190 Oxidative phosphorylation
    4728 (NDUFS8)
 09150 Organismal Systems
  09156 Nervous system
   04723 Retrograde endocannabinoid signaling
    4728 (NDUFS8)
  09159 Environmental adaptation
   04714 Thermogenesis
    4728 (NDUFS8)
 09160 Human Diseases
  09161 Cancer: overview
   05208 Chemical carcinogenesis - reactive oxygen species
    4728 (NDUFS8)
  09164 Neurodegenerative disease
   05010 Alzheimer disease
    4728 (NDUFS8)
   05012 Parkinson disease
    4728 (NDUFS8)
   05014 Amyotrophic lateral sclerosis
    4728 (NDUFS8)
   05016 Huntington disease
    4728 (NDUFS8)
   05020 Prion disease
    4728 (NDUFS8)
   05022 Pathways of neurodegeneration - multiple diseases
    4728 (NDUFS8)
  09166 Cardiovascular disease
   05415 Diabetic cardiomyopathy
    4728 (NDUFS8)
  09167 Endocrine and metabolic disease
   04932 Non-alcoholic fatty liver disease
    4728 (NDUFS8)
Enzymes [BR:hsa01000]
 7. Translocases
  7.1  Catalysing the translocation of protons
   7.1.1  Linked to oxidoreductase reactions
    7.1.1.2  NADH:ubiquinone reductase (H+-translocating)
     4728 (NDUFS8)
SSDB
Motif
Pfam: Fer4 Fer4_7 Fer4_16 Fer4_21 Fer4_6 Fer4_9 Fer4_10 Fer4_8 Fer4_2 Fer4_4 Fer4_17 Fer4_3
Other DBs
NCBI-GeneID: 4728
NCBI-ProteinID: NP_002487
OMIM: 602141
HGNC: 7715
Ensembl: ENSG00000110717
UniProt: O00217
Structure
LinkDB
Position
11:68030681..68036644
AA seq 210 aa
MRCLTTPMLLRALAQAARAGPPGGRSLHSSAVAATYKYVNMQDPEMDMKSVTDRAARTLL
WTELFRGLGMTLSYLFREPATINYPFEKGPLSPRFRGEHALRRYPSGEERCIACKLCEAI
CPAQAITIEAEPRADGSRRTTRYDIDMTKCIYCGFCQEACPVDAIVEGPNFEFSTETHEE
LLYNKEKLLNNGDKWEAEIAANIQADYLYR
NT seq 633 nt   +upstreamnt  +downstreamnt
atgcgctgcctgaccacgcctatgctgctgcgggccctggcccaggctgcacgtgcagga
cctcctggtggccggagcctccacagcagtgcagtggcagccacctacaagtatgtgaac
atgcaggatcccgagatggacatgaagtcagtgactgaccgggcagcccgcaccctgctg
tggactgagctcttccgaggcctgggcatgaccctgagctacctgttccgggaaccggcc
accatcaactacccgttcgagaagggcccgctgagccctcgcttccgtggggagcatgcg
ctgcgccggtacccatccggggaggagcgttgcattgcctgcaagctctgcgaggccatc
tgccccgcccaggccatcaccatcgaggctgagccaagagctgatggcagccgccggacc
acccgctatgacatcgacatgaccaagtgcatctactgcggcttctgccaggaggcctgt
cccgtggatgccatcgtcgagggccccaactttgagttctccacggagacccatgaggag
ctgctgtacaacaaggagaagttgctcaacaacggggacaagtgggaggccgagatcgcc
gccaacatccaggctgactacttgtatcggtga

KEGG   Homo sapiens (human): 4723
Entry
4723              CDS       T01001                                 
Symbol
NDUFV1, CI-51K, CI51KD, MC1DN4, UQOR1
Name
(RefSeq) NADH:ubiquinone oxidoreductase core subunit V1
  KO
K03942  NADH dehydrogenase (ubiquinone) flavoprotein 1 [EC:7.1.1.2]
Organism
hsa  Homo sapiens (human)
Pathway
hsa00190  Oxidative phosphorylation
hsa01100  Metabolic pathways
hsa04714  Thermogenesis
hsa04723  Retrograde endocannabinoid signaling
hsa04932  Non-alcoholic fatty liver disease
hsa05010  Alzheimer disease
hsa05012  Parkinson disease
hsa05014  Amyotrophic lateral sclerosis
hsa05016  Huntington disease
hsa05020  Prion disease
hsa05022  Pathways of neurodegeneration - multiple diseases
hsa05208  Chemical carcinogenesis - reactive oxygen species
hsa05415  Diabetic cardiomyopathy
Module
hsa_M00143  NADH dehydrogenase (ubiquinone) Fe-S protein/flavoprotein complex, mitochondria
Network
nt06460  Alzheimer disease
nt06463  Parkinson disease
nt06464  Amyotrophic lateral sclerosis
nt06466  Pathways of neurodegeneration
nt06529  Thermogenesis
  Element
N00995  Electron transfer in Complex I
N00997  Mutation-caused aberrant Abeta to electron transfer in Complex I
N01042  Mutation-caused aberrant SNCA to electron transfer in Complex I
N01043  Mutation-inactivated PINK1 to electron transfer in Complex I
N01044  MPP+ to electron transfer in Complex I
N01045  Rotenone to electron transfer in Complex I
N01136  Mutation-caused aberrant TDP43 to electron transfer in Complex I
N01691  mitochondrial complex - UCP1 in Thermogenesis
Disease
H00473  Mitochondrial complex I deficiency
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09100 Metabolism
  09102 Energy metabolism
   00190 Oxidative phosphorylation
    4723 (NDUFV1)
 09150 Organismal Systems
  09156 Nervous system
   04723 Retrograde endocannabinoid signaling
    4723 (NDUFV1)
  09159 Environmental adaptation
   04714 Thermogenesis
    4723 (NDUFV1)
 09160 Human Diseases
  09161 Cancer: overview
   05208 Chemical carcinogenesis - reactive oxygen species
    4723 (NDUFV1)
  09164 Neurodegenerative disease
   05010 Alzheimer disease
    4723 (NDUFV1)
   05012 Parkinson disease
    4723 (NDUFV1)
   05014 Amyotrophic lateral sclerosis
    4723 (NDUFV1)
   05016 Huntington disease
    4723 (NDUFV1)
   05020 Prion disease
    4723 (NDUFV1)
   05022 Pathways of neurodegeneration - multiple diseases
    4723 (NDUFV1)
  09166 Cardiovascular disease
   05415 Diabetic cardiomyopathy
    4723 (NDUFV1)
  09167 Endocrine and metabolic disease
   04932 Non-alcoholic fatty liver disease
    4723 (NDUFV1)
Enzymes [BR:hsa01000]
 7. Translocases
  7.1  Catalysing the translocation of protons
   7.1.1  Linked to oxidoreductase reactions
    7.1.1.2  NADH:ubiquinone reductase (H+-translocating)
     4723 (NDUFV1)
SSDB
Motif
Pfam: Complex1_51K NADH_4Fe-4S SLBB
Other DBs
NCBI-GeneID: 4723
NCBI-ProteinID: NP_009034
OMIM: 161015
HGNC: 7716
Ensembl: ENSG00000167792
UniProt: P49821 E5KNH5
Structure
LinkDB
Position
11:67606936..67612554
AA seq 464 aa
MLATRRLLGWSLPARVSVRFSGDTTAPKKTSFGSLKDEDRIFTNLYGRHDWRLKGSLSRG
DWYKTKEILLKGPDWILGEIKTSGLRGRGGAGFPTGLKWSFMNKPSDGRPKYLVVNADEG
EPGTCKDREILRHDPHKLLEGCLVGGRAMGARAAYIYIRGEFYNEASNLQVAIREAYEAG
LIGKNACGSGYDFDVFVVRGAGAYICGEETALIESIEGKQGKPRLKPPFPADVGVFGCPT
TVANVETVAVSPTICRRGGTWFAGFGRERNSGTKLFNISGHVNHPCTVEEEMSVPLKELI
EKHAGGVTGGWDNLLAVIPGGSSTPLIPKSVCETVLMDFDALVQAQTGLGTAAVIVMDRS
TDIVKAIARLIEFYKHESCGQCTPCREGVDWMNKVMARFVRGDARPAEIDSLWEISKQIE
GHTICALGDGAAWPVQGLIRHFRPELEERMQRFAQQHQARQAAS
NT seq 1395 nt   +upstreamnt  +downstreamnt
atgctggcaacacggcggctgctcggctggtcgcttcccgcgcgggtatctgtgcgtttc
agcggcgacacgacagcacccaagaaaacctcatttggctcgctgaaggatgaagaccgg
attttcaccaacctgtacggccgccatgactggaggctgaaaggttccctgagtcgaggt
gactggtacaagacaaaggagatcctgctgaaggggcccgactggatcctgggcgagatc
aagacatcgggtttgaggggccgtggaggcgctggcttccccactggcctcaagtggagc
ttcatgaataagccctcagatggcaggcccaagtatctggtggtgaacgcagacgagggg
gagccgggcacctgcaaggaccgggagatcttacgccatgatcctcacaagctgctggaa
ggctgcctggtggggggccgggccatgggcgcccgcgctgcctatatctacatccgaggg
gaattctacaatgaggcctccaatctgcaggtggccatccgagaggcctatgaggcaggt
ctgattggcaagaatgcttgtggctctggctatgattttgacgtgtttgtggtgcgcggg
gctggggcctacatctgtggagaggagacagcgctcatcgagtccattgagggcaagcag
ggcaagccccgcctgaagccccccttccccgcagacgtgggagtgtttggctgccccaca
actgtggccaacgtggagacagtggcagtgtcccccacaatctgccgccgtggaggtacc
tggtttgctggctttggcagagaacgcaactcaggcaccaaactattcaacatctctggc
catgtcaaccacccttgcactgtggaggaggagatgtctgtgcccttgaaagaactgatt
gagaagcatgctgggggtgtcacgggcggctgggacaacctccttgctgtgatccctggc
ggctcgtctaccccactgatccccaagtctgtgtgtgagacggtgctgatggacttcgat
gcgctggtgcaggcacagacaggcctgggcacagctgcggtgatcgtcatggaccgctcg
acggacatcgtgaaagccatcgcccgcctcattgagttctataagcacgagagctgtggc
cagtgtaccccatgccgtgagggtgtggactggatgaacaaggtgatggcacgtttcgtg
aggggggatgcccggccggccgagatcgactccctgtgggagatcagcaagcagatagaa
ggccatacgatttgtgctctgggtgacggggccgcctggcctgtgcagggtctgatccgc
cactttcggccggagctcgaggagcggatgcagcggtttgcccagcagcatcaggcccgg
caggctgcctcttag

KEGG   Homo sapiens (human): 4729
Entry
4729              CDS       T01001                                 
Symbol
NDUFV2, CI-24k, MC1DN7
Name
(RefSeq) NADH:ubiquinone oxidoreductase core subunit V2
  KO
K03943  NADH dehydrogenase (ubiquinone) flavoprotein 2 [EC:7.1.1.2]
Organism
hsa  Homo sapiens (human)
Pathway
hsa00190  Oxidative phosphorylation
hsa01100  Metabolic pathways
hsa04714  Thermogenesis
hsa04723  Retrograde endocannabinoid signaling
hsa04932  Non-alcoholic fatty liver disease
hsa05010  Alzheimer disease
hsa05012  Parkinson disease
hsa05014  Amyotrophic lateral sclerosis
hsa05016  Huntington disease
hsa05020  Prion disease
hsa05022  Pathways of neurodegeneration - multiple diseases
hsa05208  Chemical carcinogenesis - reactive oxygen species
hsa05415  Diabetic cardiomyopathy
Module
hsa_M00143  NADH dehydrogenase (ubiquinone) Fe-S protein/flavoprotein complex, mitochondria
Network
nt06460  Alzheimer disease
nt06463  Parkinson disease
nt06464  Amyotrophic lateral sclerosis
nt06466  Pathways of neurodegeneration
nt06529  Thermogenesis
  Element
N00995  Electron transfer in Complex I
N00997  Mutation-caused aberrant Abeta to electron transfer in Complex I
N01042  Mutation-caused aberrant SNCA to electron transfer in Complex I
N01043  Mutation-inactivated PINK1 to electron transfer in Complex I
N01044  MPP+ to electron transfer in Complex I
N01045  Rotenone to electron transfer in Complex I
N01136  Mutation-caused aberrant TDP43 to electron transfer in Complex I
N01691  mitochondrial complex - UCP1 in Thermogenesis
Disease
H00473  Mitochondrial complex I deficiency
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09100 Metabolism
  09102 Energy metabolism
   00190 Oxidative phosphorylation
    4729 (NDUFV2)
 09150 Organismal Systems
  09156 Nervous system
   04723 Retrograde endocannabinoid signaling
    4729 (NDUFV2)
  09159 Environmental adaptation
   04714 Thermogenesis
    4729 (NDUFV2)
 09160 Human Diseases
  09161 Cancer: overview
   05208 Chemical carcinogenesis - reactive oxygen species
    4729 (NDUFV2)
  09164 Neurodegenerative disease
   05010 Alzheimer disease
    4729 (NDUFV2)
   05012 Parkinson disease
    4729 (NDUFV2)
   05014 Amyotrophic lateral sclerosis
    4729 (NDUFV2)
   05016 Huntington disease
    4729 (NDUFV2)
   05020 Prion disease
    4729 (NDUFV2)
   05022 Pathways of neurodegeneration - multiple diseases
    4729 (NDUFV2)
  09166 Cardiovascular disease
   05415 Diabetic cardiomyopathy
    4729 (NDUFV2)
  09167 Endocrine and metabolic disease
   04932 Non-alcoholic fatty liver disease
    4729 (NDUFV2)
Enzymes [BR:hsa01000]
 7. Translocases
  7.1  Catalysing the translocation of protons
   7.1.1  Linked to oxidoreductase reactions
    7.1.1.2  NADH:ubiquinone reductase (H+-translocating)
     4729 (NDUFV2)
SSDB
Motif
Pfam: 2Fe-2S_thioredx
Other DBs
NCBI-GeneID: 4729
NCBI-ProteinID: NP_066552
OMIM: 600532
HGNC: 7717
Ensembl: ENSG00000178127
UniProt: P19404
Structure
LinkDB
Position
18:9102699..9134341
AA seq 249 aa
MFFSAALRARAAGLTAHWGRHVRNLHKTVMQNGAGGALFVHRDTPENNPDTPFDFTPENY
KRIEAIVKNYPEGHKAAAVLPVLDLAQRQNGWLPISAMNKVAEVLQVPPMRVYEVATFYT
MYNRKPVGKYHIQVCTTTPCMLRNSDSILEAIQKKLGIKVGETTPDKLFTLIEVECLGAC
VNAPMVQINDNYYEDLTAKDIEEIIDELKAGKIPKPGPRSGRFSCEPAGGLTSLTEPPKG
PGFGVQAGL
NT seq 750 nt   +upstreamnt  +downstreamnt
atgttcttctccgcggcgctccgggcccgggcggctggcctcaccgcccactggggaaga
catgtaaggaatttgcataagacagttatgcaaaatggagctggaggagctttatttgtg
cacagagatactcctgagaataaccctgatactccatttgatttcacaccagaaaactat
aagaggatagaggcaattgtaaaaaactatccagaaggccataaagcagcagctgttctt
ccagtcctggatttagcccaaaggcagaatgggtggttgcccatctctgctatgaacaag
gttgcagaagttttacaagtacctccaatgagagtatatgaagtagcaactttttataca
atgtataatcgaaagccagttggaaagtatcacattcaggtctgcactactacaccctgc
atgcttcgaaactctgacagcatactggaggccattcagaaaaagcttggaataaaggtt
ggggagactacacctgacaaacttttcactcttatagaagtggaatgtttaggggcctgt
gtgaacgcaccaatggttcaaataaatgacaattactatgaggatttgacagctaaggat
attgaagaaattattgatgagctcaaggctggcaaaatcccaaaaccagggccaaggagt
ggacgcttctcttgtgagccagctggaggtcttacctctttgactgaaccacccaaggga
cctggatttggtgtacaagcaggcctttaa

KEGG   Homo sapiens (human): 4694
Entry
4694              CDS       T01001                                 
Symbol
NDUFA1, CI-MWFE, MC1DN12, MWFE, ZNF183
Name
(RefSeq) NADH:ubiquinone oxidoreductase subunit A1
  KO
K03945  NADH dehydrogenase (ubiquinone) 1 alpha subcomplex subunit 1
Organism
hsa  Homo sapiens (human)
Pathway
hsa00190  Oxidative phosphorylation
hsa01100  Metabolic pathways
hsa04714  Thermogenesis
hsa04723  Retrograde endocannabinoid signaling
hsa04932  Non-alcoholic fatty liver disease
hsa05010  Alzheimer disease
hsa05012  Parkinson disease
hsa05014  Amyotrophic lateral sclerosis
hsa05016  Huntington disease
hsa05020  Prion disease
hsa05022  Pathways of neurodegeneration - multiple diseases
hsa05208  Chemical carcinogenesis - reactive oxygen species
hsa05415  Diabetic cardiomyopathy
Module
hsa_M00146  NADH dehydrogenase (ubiquinone) 1 alpha subcomplex
Network
nt06460  Alzheimer disease
nt06463  Parkinson disease
nt06464  Amyotrophic lateral sclerosis
nt06466  Pathways of neurodegeneration
nt06529  Thermogenesis
  Element
N00995  Electron transfer in Complex I
N00997  Mutation-caused aberrant Abeta to electron transfer in Complex I
N01042  Mutation-caused aberrant SNCA to electron transfer in Complex I
N01043  Mutation-inactivated PINK1 to electron transfer in Complex I
N01044  MPP+ to electron transfer in Complex I
N01045  Rotenone to electron transfer in Complex I
N01136  Mutation-caused aberrant TDP43 to electron transfer in Complex I
N01691  mitochondrial complex - UCP1 in Thermogenesis
Disease
H00473  Mitochondrial complex I deficiency
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09100 Metabolism
  09102 Energy metabolism
   00190 Oxidative phosphorylation
    4694 (NDUFA1)
 09150 Organismal Systems
  09156 Nervous system
   04723 Retrograde endocannabinoid signaling
    4694 (NDUFA1)
  09159 Environmental adaptation
   04714 Thermogenesis
    4694 (NDUFA1)
 09160 Human Diseases
  09161 Cancer: overview
   05208 Chemical carcinogenesis - reactive oxygen species
    4694 (NDUFA1)
  09164 Neurodegenerative disease
   05010 Alzheimer disease
    4694 (NDUFA1)
   05012 Parkinson disease
    4694 (NDUFA1)
   05014 Amyotrophic lateral sclerosis
    4694 (NDUFA1)
   05016 Huntington disease
    4694 (NDUFA1)
   05020 Prion disease
    4694 (NDUFA1)
   05022 Pathways of neurodegeneration - multiple diseases
    4694 (NDUFA1)
  09166 Cardiovascular disease
   05415 Diabetic cardiomyopathy
    4694 (NDUFA1)
  09167 Endocrine and metabolic disease
   04932 Non-alcoholic fatty liver disease
    4694 (NDUFA1)
SSDB
Motif
Pfam: MWFE
Other DBs
NCBI-GeneID: 4694
NCBI-ProteinID: NP_004532
OMIM: 300078
HGNC: 7683
Ensembl: ENSG00000125356
UniProt: O15239 Q6IBB5
Structure
LinkDB
Position
X:119871832..119876662
AA seq 70 aa
MWFEILPGLSVMGVCLLIPGLATAYIHRFTNGGKEKRVAHFGYHWSLMERDRRISGVDRY
YVSKGLENID
NT seq 213 nt   +upstreamnt  +downstreamnt
atgtggttcgagattctccccggactctccgtcatgggcgtgtgcttgttgattccagga
ctggctactgcgtacatccacaggttcactaacgggggcaaggaaaaaagggttgctcat
tttgggtatcactggagtctgatggaaagagataggcgcatctctggagttgatcgttac
tatgtgtcaaagggtttggagaacattgattaa

KEGG   Homo sapiens (human): 4695
Entry
4695              CDS       T01001                                 
Symbol
NDUFA2, B8, CD14, CIB8, MC1DN13
Name
(RefSeq) NADH:ubiquinone oxidoreductase subunit A2
  KO
K03946  NADH dehydrogenase (ubiquinone) 1 alpha subcomplex subunit 2
Organism
hsa  Homo sapiens (human)
Pathway
hsa00190  Oxidative phosphorylation
hsa01100  Metabolic pathways
hsa04714  Thermogenesis
hsa04723  Retrograde endocannabinoid signaling
hsa04932  Non-alcoholic fatty liver disease
hsa05010  Alzheimer disease
hsa05012  Parkinson disease
hsa05014  Amyotrophic lateral sclerosis
hsa05016  Huntington disease
hsa05020  Prion disease
hsa05022  Pathways of neurodegeneration - multiple diseases
hsa05208  Chemical carcinogenesis - reactive oxygen species
hsa05415  Diabetic cardiomyopathy
Module
hsa_M00146  NADH dehydrogenase (ubiquinone) 1 alpha subcomplex
Network
nt06460  Alzheimer disease
nt06463  Parkinson disease
nt06464  Amyotrophic lateral sclerosis
nt06466  Pathways of neurodegeneration
nt06529  Thermogenesis
  Element
N00995  Electron transfer in Complex I
N00997  Mutation-caused aberrant Abeta to electron transfer in Complex I
N01042  Mutation-caused aberrant SNCA to electron transfer in Complex I
N01043  Mutation-inactivated PINK1 to electron transfer in Complex I
N01044  MPP+ to electron transfer in Complex I
N01045  Rotenone to electron transfer in Complex I
N01136  Mutation-caused aberrant TDP43 to electron transfer in Complex I
N01691  mitochondrial complex - UCP1 in Thermogenesis
Disease
H00473  Mitochondrial complex I deficiency
H01354  Leigh syndrome
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09100 Metabolism
  09102 Energy metabolism
   00190 Oxidative phosphorylation
    4695 (NDUFA2)
 09150 Organismal Systems
  09156 Nervous system
   04723 Retrograde endocannabinoid signaling
    4695 (NDUFA2)
  09159 Environmental adaptation
   04714 Thermogenesis
    4695 (NDUFA2)
 09160 Human Diseases
  09161 Cancer: overview
   05208 Chemical carcinogenesis - reactive oxygen species
    4695 (NDUFA2)
  09164 Neurodegenerative disease
   05010 Alzheimer disease
    4695 (NDUFA2)
   05012 Parkinson disease
    4695 (NDUFA2)
   05014 Amyotrophic lateral sclerosis
    4695 (NDUFA2)
   05016 Huntington disease
    4695 (NDUFA2)
   05020 Prion disease
    4695 (NDUFA2)
   05022 Pathways of neurodegeneration - multiple diseases
    4695 (NDUFA2)
  09166 Cardiovascular disease
   05415 Diabetic cardiomyopathy
    4695 (NDUFA2)
  09167 Endocrine and metabolic disease
   04932 Non-alcoholic fatty liver disease
    4695 (NDUFA2)
SSDB
Motif
Pfam: L51_S25_CI-B8
Other DBs
NCBI-GeneID: 4695
NCBI-ProteinID: NP_002479
OMIM: 602137
HGNC: 7685
Ensembl: ENSG00000131495
UniProt: O43678
Structure
LinkDB
Position
5:complement(140645285..140647630)
AA seq 99 aa
MAAAAASRGVGAKLGLREIRIHLCQRSPGSQGVRDFIEKRYVELKKANPDLPILIRECSD
VQPKLWARYAFGQETNVPLNNFSADQVTRALENVLSGKA
NT seq 300 nt   +upstreamnt  +downstreamnt
atggcggcggccgcagcaagtcgaggagtcggggcaaagctgggcctgcgtgagattcgc
atccacttatgtcagcgctcgcccggcagccagggcgtcagggacttcattgagaaacgc
tacgtggagctgaagaaggcgaatcccgacctacccatcctaatccgcgaatgctccgat
gtgcagcccaagctctgggcccgctacgcatttggccaagagacgaatgtccctttgaac
aacttcagtgctgatcaggtaaccagagccctggagaacgttctaagtggtaaagcctga

KEGG   Homo sapiens (human): 4700
Entry
4700              CDS       T01001                                 
Symbol
NDUFA6, B14, CI-B14, LYRM6, MC1DN33, NADHB14
Name
(RefSeq) NADH:ubiquinone oxidoreductase subunit A6
  KO
K03950  NADH dehydrogenase (ubiquinone) 1 alpha subcomplex subunit 6
Organism
hsa  Homo sapiens (human)
Pathway
hsa00190  Oxidative phosphorylation
hsa01100  Metabolic pathways
hsa04714  Thermogenesis
hsa04723  Retrograde endocannabinoid signaling
hsa04932  Non-alcoholic fatty liver disease
hsa05010  Alzheimer disease
hsa05012  Parkinson disease
hsa05014  Amyotrophic lateral sclerosis
hsa05016  Huntington disease
hsa05020  Prion disease
hsa05022  Pathways of neurodegeneration - multiple diseases
hsa05208  Chemical carcinogenesis - reactive oxygen species
hsa05415  Diabetic cardiomyopathy
Module
hsa_M00146  NADH dehydrogenase (ubiquinone) 1 alpha subcomplex
Network
nt06460  Alzheimer disease
nt06463  Parkinson disease
nt06464  Amyotrophic lateral sclerosis
nt06466  Pathways of neurodegeneration
nt06529  Thermogenesis
  Element
N00995  Electron transfer in Complex I
N00997  Mutation-caused aberrant Abeta to electron transfer in Complex I
N01042  Mutation-caused aberrant SNCA to electron transfer in Complex I
N01043  Mutation-inactivated PINK1 to electron transfer in Complex I
N01044  MPP+ to electron transfer in Complex I
N01045  Rotenone to electron transfer in Complex I
N01136  Mutation-caused aberrant TDP43 to electron transfer in Complex I
N01691  mitochondrial complex - UCP1 in Thermogenesis
Disease
H00473  Mitochondrial complex I deficiency
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09100 Metabolism
  09102 Energy metabolism
   00190 Oxidative phosphorylation
    4700 (NDUFA6)
 09150 Organismal Systems
  09156 Nervous system
   04723 Retrograde endocannabinoid signaling
    4700 (NDUFA6)
  09159 Environmental adaptation
   04714 Thermogenesis
    4700 (NDUFA6)
 09160 Human Diseases
  09161 Cancer: overview
   05208 Chemical carcinogenesis - reactive oxygen species
    4700 (NDUFA6)
  09164 Neurodegenerative disease
   05010 Alzheimer disease
    4700 (NDUFA6)
   05012 Parkinson disease
    4700 (NDUFA6)
   05014 Amyotrophic lateral sclerosis
    4700 (NDUFA6)
   05016 Huntington disease
    4700 (NDUFA6)
   05020 Prion disease
    4700 (NDUFA6)
   05022 Pathways of neurodegeneration - multiple diseases
    4700 (NDUFA6)
  09166 Cardiovascular disease
   05415 Diabetic cardiomyopathy
    4700 (NDUFA6)
  09167 Endocrine and metabolic disease
   04932 Non-alcoholic fatty liver disease
    4700 (NDUFA6)
SSDB
Motif
Pfam: Complex1_LYR Complex1_LYR_2 GH115_C
Other DBs
NCBI-GeneID: 4700
NCBI-ProteinID: NP_002481
OMIM: 602138
HGNC: 7690
Ensembl: ENSG00000184983
UniProt: P56556 A0A2Y9D025
Structure
LinkDB
Position
22:complement(42085526..42090772)
AA seq 128 aa
MAGSGVRQATSTASTFVKPIFSRDMNEAKRRVRELYRAWYREVPNTVHQFQLDITVKMGR
DKVREMFMKNAHVTDPRVVDLLVIKGKIELEETIKVWKQRTHVMRFFHETEAPRPKDFLS
KFYVGHDP
NT seq 387 nt   +upstreamnt  +downstreamnt
atggcggggagcggcgtccgccaagctacttctaccgccagcaccttcgtgaagcccatt
ttcagtcgggacatgaacgaggccaagcggagggtgcgcgagctctaccgcgcctggtat
cgggaggtgccgaacactgtgcaccaattccagctggacatcactgtgaaaatgggacgg
gataaagtccgagaaatgtttatgaagaatgcccatgtcacagaccccagggtggttgat
cttctggtcattaagggaaagatcgaactggaagaaacaattaaagtatggaagcagcgg
acacatgttatgcggttcttccatgaaacagaagcgccaaggccaaaggatttcctatcc
aagttctatgttggccacgatccatga

KEGG   Homo sapiens (human): 4702
Entry
4702              CDS       T01001                                 
Symbol
NDUFA8, CI-19KD, CI-PGIV, MC1DN37, PGIV
Name
(RefSeq) NADH:ubiquinone oxidoreductase subunit A8
  KO
K03952  NADH dehydrogenase (ubiquinone) 1 alpha subcomplex subunit 8
Organism
hsa  Homo sapiens (human)
Pathway
hsa00190  Oxidative phosphorylation
hsa01100  Metabolic pathways
hsa04714  Thermogenesis
hsa04723  Retrograde endocannabinoid signaling
hsa04932  Non-alcoholic fatty liver disease
hsa05010  Alzheimer disease
hsa05012  Parkinson disease
hsa05014  Amyotrophic lateral sclerosis
hsa05016  Huntington disease
hsa05020  Prion disease
hsa05022  Pathways of neurodegeneration - multiple diseases
hsa05208  Chemical carcinogenesis - reactive oxygen species
hsa05415  Diabetic cardiomyopathy
Module
hsa_M00146  NADH dehydrogenase (ubiquinone) 1 alpha subcomplex
Network
nt06460  Alzheimer disease
nt06463  Parkinson disease
nt06464  Amyotrophic lateral sclerosis
nt06466  Pathways of neurodegeneration
nt06529  Thermogenesis
  Element
N00995  Electron transfer in Complex I
N00997  Mutation-caused aberrant Abeta to electron transfer in Complex I
N01042  Mutation-caused aberrant SNCA to electron transfer in Complex I
N01043  Mutation-inactivated PINK1 to electron transfer in Complex I
N01044  MPP+ to electron transfer in Complex I
N01045  Rotenone to electron transfer in Complex I
N01136  Mutation-caused aberrant TDP43 to electron transfer in Complex I
N01691  mitochondrial complex - UCP1 in Thermogenesis
Disease
H00473  Mitochondrial complex I deficiency
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09100 Metabolism
  09102 Energy metabolism
   00190 Oxidative phosphorylation
    4702 (NDUFA8)
 09150 Organismal Systems
  09156 Nervous system
   04723 Retrograde endocannabinoid signaling
    4702 (NDUFA8)
  09159 Environmental adaptation
   04714 Thermogenesis
    4702 (NDUFA8)
 09160 Human Diseases
  09161 Cancer: overview
   05208 Chemical carcinogenesis - reactive oxygen species
    4702 (NDUFA8)
  09164 Neurodegenerative disease
   05010 Alzheimer disease
    4702 (NDUFA8)
   05012 Parkinson disease
    4702 (NDUFA8)
   05014 Amyotrophic lateral sclerosis
    4702 (NDUFA8)
   05016 Huntington disease
    4702 (NDUFA8)
   05020 Prion disease
    4702 (NDUFA8)
   05022 Pathways of neurodegeneration - multiple diseases
    4702 (NDUFA8)
  09166 Cardiovascular disease
   05415 Diabetic cardiomyopathy
    4702 (NDUFA8)
  09167 Endocrine and metabolic disease
   04932 Non-alcoholic fatty liver disease
    4702 (NDUFA8)
SSDB
Motif
Pfam: CHCH CX9C COX6B Cmc1
Other DBs
NCBI-GeneID: 4702
NCBI-ProteinID: NP_055037
OMIM: 603359
HGNC: 7692
Ensembl: ENSG00000119421
UniProt: P51970
Structure
LinkDB
Position
9:complement(122132466..122159779)
AA seq 172 aa
MPGIVELPTLEELKVDEVKISSAVLKAAAHHYGAQCDKPNKEFMLCRWEEKDPRRCLEEG
KLVNKCALDFFRQIKRHCAEPFTEYWTCIDYTGQQLFRHCRKQQAKFDECVLDKLGWVRP
DLGELSKVTKVKTDRPLPENPYHSRPRPDPSPEIEGDLQPATHGSRFYFWTK
NT seq 519 nt   +upstreamnt  +downstreamnt
atgccggggatagtggagctgcccactctagaggagctgaaagtagatgaggtgaaaatt
agttctgctgtgcttaaagctgcggcccatcactatggagctcaatgtgataagcccaac
aaggagtttatgctctgccgctgggaagagaaagatccgaggcggtgtttagaggaaggc
aaactggtcaacaagtgtgctttggacttctttaggcagataaaacgtcactgtgcagag
ccttttacagaatattggacttgcattgattatactggccagcagttatttcgtcactgt
cgcaaacagcaggcaaagtttgacgagtgtgtgctggacaaactgggctgggtgcggcct
gacctgggagaactgtcaaaggtcaccaaagtgaaaacagatcgacctttaccggagaat
ccctatcactcaagaccaagaccggatcccagccctgagatcgagggagatctgcagcct
gccacacatggcagccgcttttatttctggaccaagtaa

KEGG   Homo sapiens (human): 4704
Entry
4704              CDS       T01001                                 
Symbol
NDUFA9, CC6, CI-39k, CI39k, COQ11, MC1DN26, NDUFS2L, SDR22E1
Name
(RefSeq) NADH:ubiquinone oxidoreductase subunit A9
  KO
K03953  NADH dehydrogenase (ubiquinone) 1 alpha subcomplex subunit 9
Organism
hsa  Homo sapiens (human)
Pathway
hsa00190  Oxidative phosphorylation
hsa01100  Metabolic pathways
hsa04714  Thermogenesis
hsa04723  Retrograde endocannabinoid signaling
hsa04932  Non-alcoholic fatty liver disease
hsa05010  Alzheimer disease
hsa05012  Parkinson disease
hsa05014  Amyotrophic lateral sclerosis
hsa05016  Huntington disease
hsa05020  Prion disease
hsa05022  Pathways of neurodegeneration - multiple diseases
hsa05208  Chemical carcinogenesis - reactive oxygen species
hsa05415  Diabetic cardiomyopathy
Module
hsa_M00146  NADH dehydrogenase (ubiquinone) 1 alpha subcomplex
Network
nt06460  Alzheimer disease
nt06463  Parkinson disease
nt06464  Amyotrophic lateral sclerosis
nt06466  Pathways of neurodegeneration
nt06529  Thermogenesis
  Element
N00995  Electron transfer in Complex I
N00997  Mutation-caused aberrant Abeta to electron transfer in Complex I
N01042  Mutation-caused aberrant SNCA to electron transfer in Complex I
N01043  Mutation-inactivated PINK1 to electron transfer in Complex I
N01044  MPP+ to electron transfer in Complex I
N01045  Rotenone to electron transfer in Complex I
N01136  Mutation-caused aberrant TDP43 to electron transfer in Complex I
N01691  mitochondrial complex - UCP1 in Thermogenesis
Disease
H00473  Mitochondrial complex I deficiency
H01354  Leigh syndrome
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09100 Metabolism
  09102 Energy metabolism
   00190 Oxidative phosphorylation
    4704 (NDUFA9)
 09150 Organismal Systems
  09156 Nervous system
   04723 Retrograde endocannabinoid signaling
    4704 (NDUFA9)
  09159 Environmental adaptation
   04714 Thermogenesis
    4704 (NDUFA9)
 09160 Human Diseases
  09161 Cancer: overview
   05208 Chemical carcinogenesis - reactive oxygen species
    4704 (NDUFA9)
  09164 Neurodegenerative disease
   05010 Alzheimer disease
    4704 (NDUFA9)
   05012 Parkinson disease
    4704 (NDUFA9)
   05014 Amyotrophic lateral sclerosis
    4704 (NDUFA9)
   05016 Huntington disease
    4704 (NDUFA9)
   05020 Prion disease
    4704 (NDUFA9)
   05022 Pathways of neurodegeneration - multiple diseases
    4704 (NDUFA9)
  09166 Cardiovascular disease
   05415 Diabetic cardiomyopathy
    4704 (NDUFA9)
  09167 Endocrine and metabolic disease
   04932 Non-alcoholic fatty liver disease
    4704 (NDUFA9)
SSDB
Motif
Pfam: Epimerase 3Beta_HSD NmrA NAD_binding_10 RmlD_sub_bind GDP_Man_Dehyd NAD_binding_4 adh_short
Other DBs
NCBI-GeneID: 4704
NCBI-ProteinID: NP_004993
OMIM: 603834
HGNC: 7693
Ensembl: ENSG00000139180
UniProt: Q16795
Structure
LinkDB
Position
12:4649114..4694317
AA seq 377 aa
MAAAAQSRVVRVLSMSRSAITAIATSVCHGPPCRQLHHALMPHGKGGRSSVSGIVATVFG
ATGFLGRYVVNHLGRMGSQVIIPYRCDKYDIMHLRPMGDLGQLLFLEWDARDKDSIRRVV
QHSNVVINLIGRDWETKNFDFEDVFVKIPQAIAQLSKEAGVEKFIHVSHLNANIKSSSRY
LRNKAVGEKVVRDAFPEAIIVKPSDIFGREDRFLNSFASMHRFGPIPLGSLGWKTVKQPV
YVVDVSKGIVNAVKDPDANGKSFAFVGPSRYLLFHLVKYIFAVAHRLFLPFPLPLFAYRW
VARVFEISPFEPWITRDKVERMHITDMKLPHLPGLEDLGIQATPLELKAIEVLRRHRTYR
WLSAEIEDVKPAKTVNI
NT seq 1134 nt   +upstreamnt  +downstreamnt
atggcggctgccgcacaatcccgggttgtccgggtcctgtcaatgtcacgttctgccatt
actgcaatagccacatctgtgtgtcacggcccaccctgtcgccagcttcatcatgccctc
atgcctcatgggaaaggtggacgttcctcagtcagtgggattgtggccactgtgtttgga
gcaacaggattcctggggcgatatgttgtcaaccaccttggacgcatggggtcacaggta
atcataccctatcggtgtgataaatatgacatcatgcaccttcgtcccatgggtgacctg
ggccagcttctgtttctggaatgggacgcgagagataaagattctatccgacgagtagta
caacacagcaatgtggtcatcaatcttattggacgagactgggaaaccaaaaactttgat
tttgaggatgtttttgtgaagattccccaagcaattgctcaactgtccaaggaagctgga
gttgaaaaattcattcatgtttcacatctgaatgcgaatattaaaagctcttctagatat
ttgagaaataaggctgttggagagaaagtagtgagagatgcatttccggaagccattatc
gtaaagccgtcggacatctttggaagagaggatagattccttaattcttttgcaagtatg
catcggtttggtcctataccccttggttccttgggctggaagacagttaaacaaccagta
tatgtcgtagatgtatccaaaggaattgttaatgcagttaaggatcctgatgccaatggg
aaatcctttgctttcgttggtcccagtcggtacctccttttccacctggtgaagtacatc
tttgctgtggctcacagattgttcctcccattccccttgccgctttttgcctatcgatgg
gtagcaagagtctttgaaataagcccatttgagccctggataacaagggataaagtggag
cggatgcacatcacagacatgaaattgcctcacctgcctggcttagaagaccttggtatt
caggcaacaccactggaactcaaggccattgaggtgctgcggcgtcatcgcacttaccgc
tggctgtctgctgaaattgaggatgtgaagccggccaagaccgtcaacatttag

KEGG   Homo sapiens (human): 4705
Entry
4705              CDS       T01001                                 
Symbol
NDUFA10, CI-42KD, CI-42k, MC1DN22
Name
(RefSeq) NADH:ubiquinone oxidoreductase subunit A10
  KO
K03954  NADH dehydrogenase (ubiquinone) 1 alpha subcomplex subunit 10
Organism
hsa  Homo sapiens (human)
Pathway
hsa00190  Oxidative phosphorylation
hsa01100  Metabolic pathways
hsa04714  Thermogenesis
hsa04723  Retrograde endocannabinoid signaling
hsa04932  Non-alcoholic fatty liver disease
hsa05010  Alzheimer disease
hsa05012  Parkinson disease
hsa05014  Amyotrophic lateral sclerosis
hsa05016  Huntington disease
hsa05020  Prion disease
hsa05022  Pathways of neurodegeneration - multiple diseases
hsa05208  Chemical carcinogenesis - reactive oxygen species
hsa05415  Diabetic cardiomyopathy
Module
hsa_M00146  NADH dehydrogenase (ubiquinone) 1 alpha subcomplex
Network
nt06460  Alzheimer disease
nt06463  Parkinson disease
nt06464  Amyotrophic lateral sclerosis
nt06466  Pathways of neurodegeneration
nt06529  Thermogenesis
  Element
N00995  Electron transfer in Complex I
N00997  Mutation-caused aberrant Abeta to electron transfer in Complex I
N01042  Mutation-caused aberrant SNCA to electron transfer in Complex I
N01043  Mutation-inactivated PINK1 to electron transfer in Complex I
N01044  MPP+ to electron transfer in Complex I
N01045  Rotenone to electron transfer in Complex I
N01136  Mutation-caused aberrant TDP43 to electron transfer in Complex I
N01691  mitochondrial complex - UCP1 in Thermogenesis
Disease
H00473  Mitochondrial complex I deficiency
H01354  Leigh syndrome
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09100 Metabolism
  09102 Energy metabolism
   00190 Oxidative phosphorylation
    4705 (NDUFA10)
 09150 Organismal Systems
  09156 Nervous system
   04723 Retrograde endocannabinoid signaling
    4705 (NDUFA10)
  09159 Environmental adaptation
   04714 Thermogenesis
    4705 (NDUFA10)
 09160 Human Diseases
  09161 Cancer: overview
   05208 Chemical carcinogenesis - reactive oxygen species
    4705 (NDUFA10)
  09164 Neurodegenerative disease
   05010 Alzheimer disease
    4705 (NDUFA10)
   05012 Parkinson disease
    4705 (NDUFA10)
   05014 Amyotrophic lateral sclerosis
    4705 (NDUFA10)
   05016 Huntington disease
    4705 (NDUFA10)
   05020 Prion disease
    4705 (NDUFA10)
   05022 Pathways of neurodegeneration - multiple diseases
    4705 (NDUFA10)
  09166 Cardiovascular disease
   05415 Diabetic cardiomyopathy
    4705 (NDUFA10)
  09167 Endocrine and metabolic disease
   04932 Non-alcoholic fatty liver disease
    4705 (NDUFA10)
SSDB
Motif
Pfam: dNK AAA_28 AAA_17 Thymidylate_kin Cytidylate_kin TsaE Cytidylate_kin2 AAA_18
Other DBs
NCBI-GeneID: 4705
NCBI-ProteinID: NP_004535
OMIM: 603835
HGNC: 7684
Ensembl: ENSG00000130414
UniProt: O95299
Structure
LinkDB
Position
2:complement(239892442..240025342)
AA seq 355 aa
MALRLLKLAATSASARVVAAGAQRVRGIHSSVQCKLRYGMWHFLLGDKASKRLTERSRVI
TVDGNICTGKGKLAKEIAEKLGFKHFPEAGIHYPDSTTGDGKPLATDYNGNCSLEKFYDD
PRSNDGNSYRLQSWLYSSRLLQYSDALEHLLTTGQGVVLERSIFSDFVFLEAMYNQGFIR
KQCVDHYNEVKSVTICDYLPPHLVIYIDVPVPEVQRRIQKKGDPHEMKITSAYLQDIENA
YKKTFLPEMSEKCEVLQYSAREAQDSKKVVEDIEYLKFDKGPWLKQDNRTLYHLRLLVQD
KFEVLNYTSIPIFLPEVTIGAHQTDRVLHQFRELPGRKYSPGYNTEVGDKWIWLK
NT seq 1068 nt   +upstreamnt  +downstreamnt
atggccttgcggctcctgaagctggcagcgacgtccgcgtccgcccgggtcgtggcggcg
ggcgcccagcgcgtgagaggaattcatagcagtgtgcagtgcaaactgcgctatggaatg
tggcatttcctacttggggataaagcaagcaaaagactgacagaacgcagcagagtgata
actgtagatggcaatatatgtactggaaaaggcaaacttgcaaaagaaatagcagagaaa
ctaggcttcaagcactttcctgaagcggggattcattatccagacagtaccacaggagat
gggaagcccctcgccaccgactataatggcaactgtagtttggagaaattttacgatgat
ccgagaagcaatgatggcaacagttaccgcctgcagtcctggttgtacagcagtcgcctg
ctgcagtactcagatgccttggagcacttgctgaccacaggacaaggtgttgtgttggag
cgctccatcttcagtgactttgtgttcctggaggcgatgtacaaccagggattcatccga
aagcagtgtgtggaccactacaacgaggtgaagagcgtcaccatctgcgattacctgccc
ccccacctggtgatttacatcgatgtgcccgttccagaggtccagaggcggattcagaag
aaaggagatccacatgaaatgaagatcacctctgcctatctacaggacattgagaatgcc
tataagaaaacctttctccctgagatgagtgaaaaatgtgaggttttacaatattctgca
agggaagctcaagattcaaaaaaggtggtagaggacattgaatacctgaagttcgataaa
gggccgtggctcaagcaggacaatcgcactttataccacctgcgattactggttcaggat
aagtttgaggtgctgaattacacaagcattcctatctttctcccggaagtcaccattgga
gctcatcagactgaccgtgtcttacatcagttcagagagctgccgggccgcaagtacagc
cctgggtacaacaccgaggtgggagacaagtggatctggctgaagtga

KEGG   Homo sapiens (human): 126328
Entry
126328            CDS       T01001                                 
Symbol
NDUFA11, B14.7, CI-B14.7, MC1DN14
Name
(RefSeq) NADH:ubiquinone oxidoreductase subunit A11
  KO
K03956  NADH dehydrogenase (ubiquinone) 1 alpha subcomplex subunit 11
Organism
hsa  Homo sapiens (human)
Pathway
hsa00190  Oxidative phosphorylation
hsa01100  Metabolic pathways
hsa04714  Thermogenesis
hsa04723  Retrograde endocannabinoid signaling
hsa04932  Non-alcoholic fatty liver disease
hsa05010  Alzheimer disease
hsa05012  Parkinson disease
hsa05014  Amyotrophic lateral sclerosis
hsa05016  Huntington disease
hsa05020  Prion disease
hsa05022  Pathways of neurodegeneration - multiple diseases
hsa05208  Chemical carcinogenesis - reactive oxygen species
hsa05415  Diabetic cardiomyopathy
Module
hsa_M00146  NADH dehydrogenase (ubiquinone) 1 alpha subcomplex
Network
nt06460  Alzheimer disease
nt06463  Parkinson disease
nt06464  Amyotrophic lateral sclerosis
nt06466  Pathways of neurodegeneration
nt06529  Thermogenesis
  Element
N00995  Electron transfer in Complex I
N00997  Mutation-caused aberrant Abeta to electron transfer in Complex I
N01042  Mutation-caused aberrant SNCA to electron transfer in Complex I
N01043  Mutation-inactivated PINK1 to electron transfer in Complex I
N01044  MPP+ to electron transfer in Complex I
N01045  Rotenone to electron transfer in Complex I
N01136  Mutation-caused aberrant TDP43 to electron transfer in Complex I
N01691  mitochondrial complex - UCP1 in Thermogenesis
Disease
H00473  Mitochondrial complex I deficiency
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09100 Metabolism
  09102 Energy metabolism
   00190 Oxidative phosphorylation
    126328 (NDUFA11)
 09150 Organismal Systems
  09156 Nervous system
   04723 Retrograde endocannabinoid signaling
    126328 (NDUFA11)
  09159 Environmental adaptation
   04714 Thermogenesis
    126328 (NDUFA11)
 09160 Human Diseases
  09161 Cancer: overview
   05208 Chemical carcinogenesis - reactive oxygen species
    126328 (NDUFA11)
  09164 Neurodegenerative disease
   05010 Alzheimer disease
    126328 (NDUFA11)
   05012 Parkinson disease
    126328 (NDUFA11)
   05014 Amyotrophic lateral sclerosis
    126328 (NDUFA11)
   05016 Huntington disease
    126328 (NDUFA11)
   05020 Prion disease
    126328 (NDUFA11)
   05022 Pathways of neurodegeneration - multiple diseases
    126328 (NDUFA11)
  09166 Cardiovascular disease
   05415 Diabetic cardiomyopathy
    126328 (NDUFA11)
  09167 Endocrine and metabolic disease
   04932 Non-alcoholic fatty liver disease
    126328 (NDUFA11)
SSDB
Motif
Pfam: Tim17
Other DBs
NCBI-GeneID: 126328
NCBI-ProteinID: NP_783313
OMIM: 612638
HGNC: 20371
Ensembl: ENSG00000174886
UniProt: Q86Y39
Structure
LinkDB
Position
19:complement(5891229..5903790)
AA seq 141 aa
MAPKVFRQYWDIPDGTDCHRKAYSTTSIASVAGLTAAAYRVTLNPPGTFLEGVAKVGQYT
FTAAAVGAVFGLTTCISAHVREKPDDPLNYFLGGCAGGLTLGARTHNYGIGAAACVYFGI
AASLVKMGRLEGWEVFAKPKV
NT seq 426 nt   +upstreamnt  +downstreamnt
atggcgccgaaggtttttcgtcagtactgggatatccccgatggcaccgattgccaccgc
aaagcctacagcaccaccagtattgccagcgtcgctggcctgaccgccgctgcctacaga
gtcacactcaatcctccgggcaccttccttgaaggagtggctaaggttggacaatacacg
ttcactgcagctgctgtcggggccgtgtttggcctcaccacctgcatcagcgcccatgtc
cgcgagaagcccgacgaccccctgaactacttcctcggtggctgcgccggaggcctgact
ctgggagcacgcacgcacaactacgggattggcgccgccgcctgcgtgtactttggcata
gcggcctccctggtcaagatgggccggctggagggctgggaggtgtttgcaaaacccaag
gtgtga

KEGG   Homo sapiens (human): 55967
Entry
55967             CDS       T01001                                 
Symbol
NDUFA12, B17.2, DAP13, MC1DN23
Name
(RefSeq) NADH:ubiquinone oxidoreductase subunit A12
  KO
K11352  NADH dehydrogenase (ubiquinone) 1 alpha subcomplex subunit 12
Organism
hsa  Homo sapiens (human)
Pathway
hsa00190  Oxidative phosphorylation
hsa01100  Metabolic pathways
hsa04714  Thermogenesis
hsa04723  Retrograde endocannabinoid signaling
hsa04932  Non-alcoholic fatty liver disease
hsa05010  Alzheimer disease
hsa05012  Parkinson disease
hsa05014  Amyotrophic lateral sclerosis
hsa05016  Huntington disease
hsa05020  Prion disease
hsa05022  Pathways of neurodegeneration - multiple diseases
hsa05208  Chemical carcinogenesis - reactive oxygen species
hsa05415  Diabetic cardiomyopathy
Module
hsa_M00146  NADH dehydrogenase (ubiquinone) 1 alpha subcomplex
Network
nt06460  Alzheimer disease
nt06463  Parkinson disease
nt06464  Amyotrophic lateral sclerosis
nt06466  Pathways of neurodegeneration
nt06529  Thermogenesis
  Element
N00995  Electron transfer in Complex I
N00997  Mutation-caused aberrant Abeta to electron transfer in Complex I
N01042  Mutation-caused aberrant SNCA to electron transfer in Complex I
N01043  Mutation-inactivated PINK1 to electron transfer in Complex I
N01044  MPP+ to electron transfer in Complex I
N01045  Rotenone to electron transfer in Complex I
N01136  Mutation-caused aberrant TDP43 to electron transfer in Complex I
N01691  mitochondrial complex - UCP1 in Thermogenesis
Disease
H00473  Mitochondrial complex I deficiency
H01354  Leigh syndrome
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09100 Metabolism
  09102 Energy metabolism
   00190 Oxidative phosphorylation
    55967 (NDUFA12)
 09150 Organismal Systems
  09156 Nervous system
   04723 Retrograde endocannabinoid signaling
    55967 (NDUFA12)
  09159 Environmental adaptation
   04714 Thermogenesis
    55967 (NDUFA12)
 09160 Human Diseases
  09161 Cancer: overview
   05208 Chemical carcinogenesis - reactive oxygen species
    55967 (NDUFA12)
  09164 Neurodegenerative disease
   05010 Alzheimer disease
    55967 (NDUFA12)
   05012 Parkinson disease
    55967 (NDUFA12)
   05014 Amyotrophic lateral sclerosis
    55967 (NDUFA12)
   05016 Huntington disease
    55967 (NDUFA12)
   05020 Prion disease
    55967 (NDUFA12)
   05022 Pathways of neurodegeneration - multiple diseases
    55967 (NDUFA12)
  09166 Cardiovascular disease
   05415 Diabetic cardiomyopathy
    55967 (NDUFA12)
  09167 Endocrine and metabolic disease
   04932 Non-alcoholic fatty liver disease
    55967 (NDUFA12)
SSDB
Motif
Pfam: NDUFA12
Other DBs
NCBI-GeneID: 55967
NCBI-ProteinID: NP_061326
OMIM: 614530
HGNC: 23987
Ensembl: ENSG00000184752
UniProt: Q9UI09
Structure
LinkDB
Position
12:complement(94971333..95003697)
AA seq 145 aa
MELVQVLKRGLQQITGHGGLRGYLRVFFRTNDAKVGTLVGEDKYGNKYYEDNKQFFGRHR
WVVYTTEMNGKNTFWDVDGSMVPPEWHRWLHSMTDDPPTTKPLTARKFIWTNHKFNVTGT
PEQYVPYSTTRKKIQEWIPPSTPYK
NT seq 438 nt   +upstreamnt  +downstreamnt
atggagttagtgcaggtcctgaaacgcgggctgcagcagatcaccggccacggcggtctc
cgaggctatctacgggtttttttcaggacaaatgatgcgaaggttggtacattagtgggg
gaagacaaatatggaaacaaatactatgaagacaacaagcaattttttggccgtcaccga
tgggttgtatatactactgaaatgaatggcaaaaacacattctgggatgtggatggaagc
atggtgcctcctgaatggcatcgttggcttcacagtatgactgatgatcctccaacaaca
aaaccacttactgctcgtaaattcatttggacgaaccataaattcaacgtgactggcacc
ccagaacaatatgtaccttattctaccactagaaagaagattcaggagtggatcccacct
tcaacaccttacaagtaa

KEGG   Homo sapiens (human): 51079
Entry
51079             CDS       T01001                                 
Symbol
NDUFA13, B16.6, CDA016, CGI-39, GRIM-19, GRIM19, MC1DN28
Name
(RefSeq) NADH:ubiquinone oxidoreductase subunit A13
  KO
K11353  NADH dehydrogenase (ubiquinone) 1 alpha subcomplex subunit 13
Organism
hsa  Homo sapiens (human)
Pathway
hsa00190  Oxidative phosphorylation
hsa01100  Metabolic pathways
hsa04714  Thermogenesis
hsa04723  Retrograde endocannabinoid signaling
hsa04932  Non-alcoholic fatty liver disease
hsa05010  Alzheimer disease
hsa05012  Parkinson disease
hsa05014  Amyotrophic lateral sclerosis
hsa05016  Huntington disease
hsa05020  Prion disease
hsa05022  Pathways of neurodegeneration - multiple diseases
hsa05208  Chemical carcinogenesis - reactive oxygen species
hsa05415  Diabetic cardiomyopathy
Module
hsa_M00146  NADH dehydrogenase (ubiquinone) 1 alpha subcomplex
Network
nt06460  Alzheimer disease
nt06463  Parkinson disease
nt06464  Amyotrophic lateral sclerosis
nt06466  Pathways of neurodegeneration
nt06529  Thermogenesis
  Element
N00995  Electron transfer in Complex I
N00997  Mutation-caused aberrant Abeta to electron transfer in Complex I
N01042  Mutation-caused aberrant SNCA to electron transfer in Complex I
N01043  Mutation-inactivated PINK1 to electron transfer in Complex I
N01044  MPP+ to electron transfer in Complex I
N01045  Rotenone to electron transfer in Complex I
N01136  Mutation-caused aberrant TDP43 to electron transfer in Complex I
N01691  mitochondrial complex - UCP1 in Thermogenesis
Disease
H00473  Mitochondrial complex I deficiency
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09100 Metabolism
  09102 Energy metabolism
   00190 Oxidative phosphorylation
    51079 (NDUFA13)
 09150 Organismal Systems
  09156 Nervous system
   04723 Retrograde endocannabinoid signaling
    51079 (NDUFA13)
  09159 Environmental adaptation
   04714 Thermogenesis
    51079 (NDUFA13)
 09160 Human Diseases
  09161 Cancer: overview
   05208 Chemical carcinogenesis - reactive oxygen species
    51079 (NDUFA13)
  09164 Neurodegenerative disease
   05010 Alzheimer disease
    51079 (NDUFA13)
   05012 Parkinson disease
    51079 (NDUFA13)
   05014 Amyotrophic lateral sclerosis
    51079 (NDUFA13)
   05016 Huntington disease
    51079 (NDUFA13)
   05020 Prion disease
    51079 (NDUFA13)
   05022 Pathways of neurodegeneration - multiple diseases
    51079 (NDUFA13)
  09166 Cardiovascular disease
   05415 Diabetic cardiomyopathy
    51079 (NDUFA13)
  09167 Endocrine and metabolic disease
   04932 Non-alcoholic fatty liver disease
    51079 (NDUFA13)
SSDB
Motif
Pfam: GRIM-19 COX14 CSTF_C
Other DBs
NCBI-GeneID: 51079
NCBI-ProteinID: NP_057049
OMIM: 609435
HGNC: 17194
Ensembl: ENSG00000186010
UniProt: Q9P0J0
Structure
LinkDB
Position
19:19516225..19528198
AA seq 144 aa
MAASKVKQDMPPPGGYGPIDYKRNLPRRGLSGYSMLAIGIGTLIYGHWSIMKWNRERRRL
QIEDFEARIALLPLLQAETDRRTLQMLRENLEEEAIIMKDVPDWKVGESVFHTTRWVPPL
IGELYGLRTTEEALHASHGFMWYT
NT seq 435 nt   +upstreamnt  +downstreamnt
atggcggcgtcaaaggtgaagcaggacatgcctccgccggggggctatgggcccatcgac
tacaaacggaacttgccgcgtcgaggactgtcgggctacagcatgctggccatagggatt
ggaaccctgatctacgggcactggagcataatgaagtggaaccgtgagcgcaggcgccta
caaatcgaggacttcgaggctcgcatcgcgctgttgccactgttacaggcagaaaccgac
cggaggaccttgcagatgcttcgggagaacctggaggaggaggccatcatcatgaaggac
gtgcccgactggaaggtgggggagtctgtgttccacacaacccgctgggtgccccccttg
atcggggagctgtacgggctgcgcaccacagaggaggctctccatgccagccacggcttc
atgtggtacacgtag

KEGG   Homo sapiens (human): 4709
Entry
4709              CDS       T01001                                 
Symbol
NDUFB3, B12, CI-B12, MC1DN25
Name
(RefSeq) NADH:ubiquinone oxidoreductase subunit B3
  KO
K03959  NADH dehydrogenase (ubiquinone) 1 beta subcomplex subunit 3
Organism
hsa  Homo sapiens (human)
Pathway
hsa00190  Oxidative phosphorylation
hsa01100  Metabolic pathways
hsa04714  Thermogenesis
hsa04723  Retrograde endocannabinoid signaling
hsa04932  Non-alcoholic fatty liver disease
hsa05010  Alzheimer disease
hsa05012  Parkinson disease
hsa05014  Amyotrophic lateral sclerosis
hsa05016  Huntington disease
hsa05020  Prion disease
hsa05022  Pathways of neurodegeneration - multiple diseases
hsa05208  Chemical carcinogenesis - reactive oxygen species
hsa05415  Diabetic cardiomyopathy
Module
hsa_M00147  NADH dehydrogenase (ubiquinone) 1 beta subcomplex
Network
nt06460  Alzheimer disease
nt06463  Parkinson disease
nt06464  Amyotrophic lateral sclerosis
nt06466  Pathways of neurodegeneration
nt06529  Thermogenesis
  Element
N00995  Electron transfer in Complex I
N00997  Mutation-caused aberrant Abeta to electron transfer in Complex I
N01042  Mutation-caused aberrant SNCA to electron transfer in Complex I
N01043  Mutation-inactivated PINK1 to electron transfer in Complex I
N01044  MPP+ to electron transfer in Complex I
N01045  Rotenone to electron transfer in Complex I
N01136  Mutation-caused aberrant TDP43 to electron transfer in Complex I
N01691  mitochondrial complex - UCP1 in Thermogenesis
Disease
H00473  Mitochondrial complex I deficiency
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09100 Metabolism
  09102 Energy metabolism
   00190 Oxidative phosphorylation
    4709 (NDUFB3)
 09150 Organismal Systems
  09156 Nervous system
   04723 Retrograde endocannabinoid signaling
    4709 (NDUFB3)
  09159 Environmental adaptation
   04714 Thermogenesis
    4709 (NDUFB3)
 09160 Human Diseases
  09161 Cancer: overview
   05208 Chemical carcinogenesis - reactive oxygen species
    4709 (NDUFB3)
  09164 Neurodegenerative disease
   05010 Alzheimer disease
    4709 (NDUFB3)
   05012 Parkinson disease
    4709 (NDUFB3)
   05014 Amyotrophic lateral sclerosis
    4709 (NDUFB3)
   05016 Huntington disease
    4709 (NDUFB3)
   05020 Prion disease
    4709 (NDUFB3)
   05022 Pathways of neurodegeneration - multiple diseases
    4709 (NDUFB3)
  09166 Cardiovascular disease
   05415 Diabetic cardiomyopathy
    4709 (NDUFB3)
  09167 Endocrine and metabolic disease
   04932 Non-alcoholic fatty liver disease
    4709 (NDUFB3)
SSDB
Motif
Pfam: NDUF_B12
Other DBs
NCBI-GeneID: 4709
NCBI-ProteinID: NP_001244031
OMIM: 603839
HGNC: 7698
Ensembl: ENSG00000119013
UniProt: O43676
Structure
LinkDB
Position
2:201072001..201085750
AA seq 98 aa
MAHEHGHEHGHHKMELPDYRQWKIEGTPLETIQKKLAAKGLRDPWGRNEAWRYMGGFAKS
VSFSDVFFKGFKWGFAAFVVAVGAEYYLESLNKDKKHH
NT seq 297 nt   +upstreamnt  +downstreamnt
atggcccatgaacatggacatgagcatggacatcataaaatggaacttccagattataga
caatggaagatagaagggacaccattagaaactatccagaagaagctggctgcaaaaggg
ctaagggatccatggggccgcaatgaagcttggagatacatgggtggctttgcaaagagt
gtttccttttctgatgtattctttaaaggattcaaatggggatttgctgcatttgtggta
gctgtaggagctgaatattacctggagtccctgaataaagataagaagcatcactga

KEGG   Homo sapiens (human): 4714
Entry
4714              CDS       T01001                                 
Symbol
NDUFB8, ASHI, CI-ASHI, MC1DN32
Name
(RefSeq) NADH:ubiquinone oxidoreductase subunit B8
  KO
K03964  NADH dehydrogenase (ubiquinone) 1 beta subcomplex subunit 8
Organism
hsa  Homo sapiens (human)
Pathway
hsa00190  Oxidative phosphorylation
hsa01100  Metabolic pathways
hsa04714  Thermogenesis
hsa04723  Retrograde endocannabinoid signaling
hsa04932  Non-alcoholic fatty liver disease
hsa05010  Alzheimer disease
hsa05012  Parkinson disease
hsa05014  Amyotrophic lateral sclerosis
hsa05016  Huntington disease
hsa05020  Prion disease
hsa05022  Pathways of neurodegeneration - multiple diseases
hsa05208  Chemical carcinogenesis - reactive oxygen species
hsa05415  Diabetic cardiomyopathy
Module
hsa_M00147  NADH dehydrogenase (ubiquinone) 1 beta subcomplex
Network
nt06460  Alzheimer disease
nt06463  Parkinson disease
nt06464  Amyotrophic lateral sclerosis
nt06466  Pathways of neurodegeneration
nt06529  Thermogenesis
  Element
N00995  Electron transfer in Complex I
N00997  Mutation-caused aberrant Abeta to electron transfer in Complex I
N01042  Mutation-caused aberrant SNCA to electron transfer in Complex I
N01043  Mutation-inactivated PINK1 to electron transfer in Complex I
N01044  MPP+ to electron transfer in Complex I
N01045  Rotenone to electron transfer in Complex I
N01136  Mutation-caused aberrant TDP43 to electron transfer in Complex I
N01691  mitochondrial complex - UCP1 in Thermogenesis
Disease
H00473  Mitochondrial complex I deficiency
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09100 Metabolism
  09102 Energy metabolism
   00190 Oxidative phosphorylation
    4714 (NDUFB8)
 09150 Organismal Systems
  09156 Nervous system
   04723 Retrograde endocannabinoid signaling
    4714 (NDUFB8)
  09159 Environmental adaptation
   04714 Thermogenesis
    4714 (NDUFB8)
 09160 Human Diseases
  09161 Cancer: overview
   05208 Chemical carcinogenesis - reactive oxygen species
    4714 (NDUFB8)
  09164 Neurodegenerative disease
   05010 Alzheimer disease
    4714 (NDUFB8)
   05012 Parkinson disease
    4714 (NDUFB8)
   05014 Amyotrophic lateral sclerosis
    4714 (NDUFB8)
   05016 Huntington disease
    4714 (NDUFB8)
   05020 Prion disease
    4714 (NDUFB8)
   05022 Pathways of neurodegeneration - multiple diseases
    4714 (NDUFB8)
  09166 Cardiovascular disease
   05415 Diabetic cardiomyopathy
    4714 (NDUFB8)
  09167 Endocrine and metabolic disease
   04932 Non-alcoholic fatty liver disease
    4714 (NDUFB8)
SSDB
Motif
Pfam: NDUF_B8
Other DBs
NCBI-GeneID: 4714
NCBI-ProteinID: NP_004995
OMIM: 602140
HGNC: 7703
Ensembl: ENSG00000166136
UniProt: O95169
Structure
LinkDB
Position
10:complement(100523729..100529923)
AA seq 186 aa
MAVARAGVLGVQWLQRASRNVMPLGARTASHMTKDMFPGPYPRTPEERAAAAKKYNMRVE
DYEPYPDDGMGYGDYPKLPDRSQHERDPWYSWDQPGLRLNWGEPMHWHLDMYNRNRVDTS
PTPVSWHVMCMQLFGFLAFMIFMCWVGDVYPVYQPVGPKQYPYNNLYLERGGDPSKEPER
VVHYEI
NT seq 561 nt   +upstreamnt  +downstreamnt
atggcggtggccagggccggggtcttgggagtccagtggctgcaaagggcatcccggaac
gtgatgccgctgggcgcacggacagcctcccacatgaccaaggacatgttcccggggccc
tatcctaggaccccagaagaacgggccgccgccgccaagaagtataatatgcgtgtggaa
gactacgaaccttacccggatgatggcatggggtatggcgactacccgaagctccctgac
cgctcacagcatgagagagatccatggtatagctgggaccagccgggcctgaggttgaac
tggggtgaaccgatgcactggcacctagacatgtacaacaggaaccgtgtggatacatcc
cccacacctgtttcttggcatgtcatgtgtatgcagctcttcggtttcctggctttcatg
atattcatgtgctgggtgggggacgtgtaccctgtctaccagcctgtgggaccaaagcag
tatccttacaataatctgtacctggaacgaggcggtgatccctccaaagaaccagagcgg
gtggttcactatgagatctga

KEGG   Homo sapiens (human): 4715
Entry
4715              CDS       T01001                                 
Symbol
NDUFB9, B22, CI-B22, LYRM3, MC1DN24, UQOR22
Name
(RefSeq) NADH:ubiquinone oxidoreductase subunit B9
  KO
K03965  NADH dehydrogenase (ubiquinone) 1 beta subcomplex subunit 9
Organism
hsa  Homo sapiens (human)
Pathway
hsa00190  Oxidative phosphorylation
hsa01100  Metabolic pathways
hsa04714  Thermogenesis
hsa04723  Retrograde endocannabinoid signaling
hsa04932  Non-alcoholic fatty liver disease
hsa05010  Alzheimer disease
hsa05012  Parkinson disease
hsa05014  Amyotrophic lateral sclerosis
hsa05016  Huntington disease
hsa05020  Prion disease
hsa05022  Pathways of neurodegeneration - multiple diseases
hsa05208  Chemical carcinogenesis - reactive oxygen species
hsa05415  Diabetic cardiomyopathy
Module
hsa_M00147  NADH dehydrogenase (ubiquinone) 1 beta subcomplex
Network
nt06460  Alzheimer disease
nt06463  Parkinson disease
nt06464  Amyotrophic lateral sclerosis
nt06466  Pathways of neurodegeneration
nt06529  Thermogenesis
  Element
N00995  Electron transfer in Complex I
N00997  Mutation-caused aberrant Abeta to electron transfer in Complex I
N01042  Mutation-caused aberrant SNCA to electron transfer in Complex I
N01043  Mutation-inactivated PINK1 to electron transfer in Complex I
N01044  MPP+ to electron transfer in Complex I
N01045  Rotenone to electron transfer in Complex I
N01136  Mutation-caused aberrant TDP43 to electron transfer in Complex I
N01691  mitochondrial complex - UCP1 in Thermogenesis
Disease
H00473  Mitochondrial complex I deficiency
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09100 Metabolism
  09102 Energy metabolism
   00190 Oxidative phosphorylation
    4715 (NDUFB9)
 09150 Organismal Systems
  09156 Nervous system
   04723 Retrograde endocannabinoid signaling
    4715 (NDUFB9)
  09159 Environmental adaptation
   04714 Thermogenesis
    4715 (NDUFB9)
 09160 Human Diseases
  09161 Cancer: overview
   05208 Chemical carcinogenesis - reactive oxygen species
    4715 (NDUFB9)
  09164 Neurodegenerative disease
   05010 Alzheimer disease
    4715 (NDUFB9)
   05012 Parkinson disease
    4715 (NDUFB9)
   05014 Amyotrophic lateral sclerosis
    4715 (NDUFB9)
   05016 Huntington disease
    4715 (NDUFB9)
   05020 Prion disease
    4715 (NDUFB9)
   05022 Pathways of neurodegeneration - multiple diseases
    4715 (NDUFB9)
  09166 Cardiovascular disease
   05415 Diabetic cardiomyopathy
    4715 (NDUFB9)
  09167 Endocrine and metabolic disease
   04932 Non-alcoholic fatty liver disease
    4715 (NDUFB9)
SSDB
Motif
Pfam: Complex1_LYR Complex1_LYR_2 ImpA_N
Other DBs
NCBI-GeneID: 4715
NCBI-ProteinID: NP_004996
OMIM: 601445
HGNC: 7704
Ensembl: ENSG00000147684
UniProt: Q9Y6M9
Structure
LinkDB
Position
8:124539123..124549979
AA seq 179 aa
MAFLASGPYLTHQQKVLRLYKRALRHLESWCVQRDKYRYFACLMRARFEEHKNEKDMAKA
TQLLKEAEEEFWYRQHPQPYIFPDSPGGTSYERYDCYKVPEWCLDDWHPSEKAMYPDYFA
KREQWKKLRRESWEREVKQLQEETPPGGPLTEALPPARKEGDLPPLWWYIVTRPRERPM
NT seq 540 nt   +upstreamnt  +downstreamnt
atggcgttcttggcgtcgggaccctacctgacccatcagcaaaaggtgttgcggctttat
aagcgggcgctacgccacctcgagtcgtggtgcgtccagagagacaaataccgatacttt
gcttgtttgatgagagcccggtttgaagaacataagaatgaaaaggatatggcgaaggcc
acccagctgctgaaggaggccgaggaagaattctggtaccgtcagcatccacagccatac
atcttccctgactctcctgggggcacctcctatgagagatacgattgctacaaggtccca
gaatggtgcttagatgactggcatccttctgagaaggcaatgtatcctgattactttgcc
aagagagaacagtggaagaaactgcggagggaaagctgggaacgagaggttaagcagctg
caggaggaaacgccacctggtggtcctttaactgaagctttgccccctgcccgaaaggaa
ggtgatttgcccccactgtggtggtatattgtgaccagaccccgggagcggcccatgtag

KEGG   Homo sapiens (human): 4716
Entry
4716              CDS       T01001                                 
Symbol
NDUFB10, MC1DN35, PDSW
Name
(RefSeq) NADH:ubiquinone oxidoreductase subunit B10
  KO
K03966  NADH dehydrogenase (ubiquinone) 1 beta subcomplex subunit 10
Organism
hsa  Homo sapiens (human)
Pathway
hsa00190  Oxidative phosphorylation
hsa01100  Metabolic pathways
hsa04714  Thermogenesis
hsa04723  Retrograde endocannabinoid signaling
hsa04932  Non-alcoholic fatty liver disease
hsa05010  Alzheimer disease
hsa05012  Parkinson disease
hsa05014  Amyotrophic lateral sclerosis
hsa05016  Huntington disease
hsa05020  Prion disease
hsa05022  Pathways of neurodegeneration - multiple diseases
hsa05208  Chemical carcinogenesis - reactive oxygen species
hsa05415  Diabetic cardiomyopathy
Module
hsa_M00147  NADH dehydrogenase (ubiquinone) 1 beta subcomplex
Network
nt06460  Alzheimer disease
nt06463  Parkinson disease
nt06464  Amyotrophic lateral sclerosis
nt06466  Pathways of neurodegeneration
nt06529  Thermogenesis
  Element
N00995  Electron transfer in Complex I
N00997  Mutation-caused aberrant Abeta to electron transfer in Complex I
N01042  Mutation-caused aberrant SNCA to electron transfer in Complex I
N01043  Mutation-inactivated PINK1 to electron transfer in Complex I
N01044  MPP+ to electron transfer in Complex I
N01045  Rotenone to electron transfer in Complex I
N01136  Mutation-caused aberrant TDP43 to electron transfer in Complex I
N01691  mitochondrial complex - UCP1 in Thermogenesis
Disease
H00473  Mitochondrial complex I deficiency
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09100 Metabolism
  09102 Energy metabolism
   00190 Oxidative phosphorylation
    4716 (NDUFB10)
 09150 Organismal Systems
  09156 Nervous system
   04723 Retrograde endocannabinoid signaling
    4716 (NDUFB10)
  09159 Environmental adaptation
   04714 Thermogenesis
    4716 (NDUFB10)
 09160 Human Diseases
  09161 Cancer: overview
   05208 Chemical carcinogenesis - reactive oxygen species
    4716 (NDUFB10)
  09164 Neurodegenerative disease
   05010 Alzheimer disease
    4716 (NDUFB10)
   05012 Parkinson disease
    4716 (NDUFB10)
   05014 Amyotrophic lateral sclerosis
    4716 (NDUFB10)
   05016 Huntington disease
    4716 (NDUFB10)
   05020 Prion disease
    4716 (NDUFB10)
   05022 Pathways of neurodegeneration - multiple diseases
    4716 (NDUFB10)
  09166 Cardiovascular disease
   05415 Diabetic cardiomyopathy
    4716 (NDUFB10)
  09167 Endocrine and metabolic disease
   04932 Non-alcoholic fatty liver disease
    4716 (NDUFB10)
SSDB
Motif
Pfam: NDUFB10
Other DBs
NCBI-GeneID: 4716
NCBI-ProteinID: NP_004539
OMIM: 603843
HGNC: 7696
Ensembl: ENSG00000140990
UniProt: O96000 A8K761
Structure
LinkDB
Position
16:1959538..1961975
AA seq 172 aa
MPDSWDKDVYPEPPRRTPVQPNPIVYMMKAFDLIVDRPVTLVREFIERQHAKNRYYYYHR
QYRRVPDITECKEEDIMCMYEAEMQWKRDYKVDQEIINIMQDRLKACQQREGQNYQQNCI
KEVEQFTQVAKAYQDRYQDLGAYSSARKCLAKQRQRMLQERKAAKEAAAATS
NT seq 519 nt   +upstreamnt  +downstreamnt
atgccggacagctgggacaaggatgtgtaccctgagcccccgcgccgcacgccggtgcag
cccaatcccatcgtctacatgatgaaagcgttcgacctcatcgtggaccgacccgtgacc
ctcgtgagagaatttatagagcggcagcacgcaaagaacaggtattactactaccaccgg
cagtaccgccgcgtgccagacatcactgagtgcaaggaggaggacatcatgtgcatgtat
gaagccgaaatgcagtggaagagggactacaaagtcgaccaagaaattatcaacattatg
caggatcggctcaaagcctgtcagcagagggaaggacagaactaccagcagaactgtatc
aaggaagtggagcagttcacccaggtggccaaggcctaccaggaccgctatcaggacctg
ggggcctacagttctgccaggaagtgcctggccaaacagaggcagaggatgctgcaagag
agaaaagctgcaaaagaggccgccgctgccacctcctga

KEGG   Homo sapiens (human): 54539
Entry
54539             CDS       T01001                                 
Symbol
NDUFB11, CI-ESSS, ESSS, MC1DN30, NP17.3, Np15, P17.3
Name
(RefSeq) NADH:ubiquinone oxidoreductase subunit B11
  KO
K11351  NADH dehydrogenase (ubiquinone) 1 beta subcomplex subunit 11
Organism
hsa  Homo sapiens (human)
Pathway
hsa00190  Oxidative phosphorylation
hsa01100  Metabolic pathways
hsa04714  Thermogenesis
hsa04723  Retrograde endocannabinoid signaling
hsa04932  Non-alcoholic fatty liver disease
hsa05010  Alzheimer disease
hsa05012  Parkinson disease
hsa05014  Amyotrophic lateral sclerosis
hsa05016  Huntington disease
hsa05020  Prion disease
hsa05022  Pathways of neurodegeneration - multiple diseases
hsa05208  Chemical carcinogenesis - reactive oxygen species
hsa05415  Diabetic cardiomyopathy
Module
hsa_M00147  NADH dehydrogenase (ubiquinone) 1 beta subcomplex
Network
nt06460  Alzheimer disease
nt06463  Parkinson disease
nt06464  Amyotrophic lateral sclerosis
nt06466  Pathways of neurodegeneration
nt06529  Thermogenesis
  Element
N00995  Electron transfer in Complex I
N00997  Mutation-caused aberrant Abeta to electron transfer in Complex I
N01042  Mutation-caused aberrant SNCA to electron transfer in Complex I
N01043  Mutation-inactivated PINK1 to electron transfer in Complex I
N01044  MPP+ to electron transfer in Complex I
N01045  Rotenone to electron transfer in Complex I
N01136  Mutation-caused aberrant TDP43 to electron transfer in Complex I
N01691  mitochondrial complex - UCP1 in Thermogenesis
Disease
H00473  Mitochondrial complex I deficiency
H01904  Microphthalmia with linear skin defects syndrome
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09100 Metabolism
  09102 Energy metabolism
   00190 Oxidative phosphorylation
    54539 (NDUFB11)
 09150 Organismal Systems
  09156 Nervous system
   04723 Retrograde endocannabinoid signaling
    54539 (NDUFB11)
  09159 Environmental adaptation
   04714 Thermogenesis
    54539 (NDUFB11)
 09160 Human Diseases
  09161 Cancer: overview
   05208 Chemical carcinogenesis - reactive oxygen species
    54539 (NDUFB11)
  09164 Neurodegenerative disease
   05010 Alzheimer disease
    54539 (NDUFB11)
   05012 Parkinson disease
    54539 (NDUFB11)
   05014 Amyotrophic lateral sclerosis
    54539 (NDUFB11)
   05016 Huntington disease
    54539 (NDUFB11)
   05020 Prion disease
    54539 (NDUFB11)
   05022 Pathways of neurodegeneration - multiple diseases
    54539 (NDUFB11)
  09166 Cardiovascular disease
   05415 Diabetic cardiomyopathy
    54539 (NDUFB11)
  09167 Endocrine and metabolic disease
   04932 Non-alcoholic fatty liver disease
    54539 (NDUFB11)
SSDB
Motif
Pfam: ESSS
Other DBs
NCBI-GeneID: 54539
NCBI-ProteinID: NP_001129470
OMIM: 300403
HGNC: 20372
Ensembl: ENSG00000147123
UniProt: Q9NX14
Structure
LinkDB
Position
X:complement(47142216..47145491)
AA seq 153 aa
MAAGLFGLSARRLLAAAATRGLPAARVRWESSFSRTVVAPSAVAGKRPPEPTTPWQEDPE
PEDENLYEKNPDSHGYDKDPVLDVWNMRLVFFFGVSIILVLGSTFVAYLPDYRMKEWSRR
EAERLVKYREANGLPIMESNCFDPSKIQLPEDE
NT seq 462 nt   +upstreamnt  +downstreamnt
atggcggctgggctgtttggtttgagcgctcgccgtcttttggcggcagcggcgacgcga
gggctcccggccgcccgcgtccgctgggaatctagcttctccaggactgtggtcgccccg
tccgctgtggcgggaaagcggcccccagaaccgaccacaccgtggcaagaggacccagaa
cccgaggacgaaaacttgtatgagaagaacccagactcccatggttatgacaaggacccc
gttttggacgtctggaacatgcgacttgtcttcttctttggcgtctccatcatcctggtc
cttggcagcacctttgtggcctatctgcctgactacaggatgaaagagtggtcccgccgc
gaagctgagaggcttgtgaaataccgagaggccaatggccttcccatcatggaatccaac
tgcttcgaccccagcaagatccagctgccagaggatgagtga

KEGG   Homo sapiens (human): 4718
Entry
4718              CDS       T01001                                 
Symbol
NDUFC2, B14.5b, CI-B14.5b, HLC-1, MC1DN36, NADHDH2
Name
(RefSeq) NADH:ubiquinone oxidoreductase subunit C2
  KO
K03968  NADH dehydrogenase (ubiquinone) 1 subunit C2
Organism
hsa  Homo sapiens (human)
Pathway
hsa00190  Oxidative phosphorylation
hsa01100  Metabolic pathways
hsa04714  Thermogenesis
hsa04723  Retrograde endocannabinoid signaling
hsa04932  Non-alcoholic fatty liver disease
hsa05010  Alzheimer disease
hsa05012  Parkinson disease
hsa05014  Amyotrophic lateral sclerosis
hsa05016  Huntington disease
hsa05020  Prion disease
hsa05022  Pathways of neurodegeneration - multiple diseases
hsa05208  Chemical carcinogenesis - reactive oxygen species
hsa05415  Diabetic cardiomyopathy
Module
hsa_M00147  NADH dehydrogenase (ubiquinone) 1 beta subcomplex
Network
nt06460  Alzheimer disease
nt06463  Parkinson disease
nt06464  Amyotrophic lateral sclerosis
nt06466  Pathways of neurodegeneration
nt06529  Thermogenesis
  Element
N00995  Electron transfer in Complex I
N00997  Mutation-caused aberrant Abeta to electron transfer in Complex I
N01042  Mutation-caused aberrant SNCA to electron transfer in Complex I
N01043  Mutation-inactivated PINK1 to electron transfer in Complex I
N01044  MPP+ to electron transfer in Complex I
N01045  Rotenone to electron transfer in Complex I
N01136  Mutation-caused aberrant TDP43 to electron transfer in Complex I
N01691  mitochondrial complex - UCP1 in Thermogenesis
Disease
H00473  Mitochondrial complex I deficiency
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09100 Metabolism
  09102 Energy metabolism
   00190 Oxidative phosphorylation
    4718 (NDUFC2)
 09150 Organismal Systems
  09156 Nervous system
   04723 Retrograde endocannabinoid signaling
    4718 (NDUFC2)
  09159 Environmental adaptation
   04714 Thermogenesis
    4718 (NDUFC2)
 09160 Human Diseases
  09161 Cancer: overview
   05208 Chemical carcinogenesis - reactive oxygen species
    4718 (NDUFC2)
  09164 Neurodegenerative disease
   05010 Alzheimer disease
    4718 (NDUFC2)
   05012 Parkinson disease
    4718 (NDUFC2)
   05014 Amyotrophic lateral sclerosis
    4718 (NDUFC2)
   05016 Huntington disease
    4718 (NDUFC2)
   05020 Prion disease
    4718 (NDUFC2)
   05022 Pathways of neurodegeneration - multiple diseases
    4718 (NDUFC2)
  09166 Cardiovascular disease
   05415 Diabetic cardiomyopathy
    4718 (NDUFC2)
  09167 Endocrine and metabolic disease
   04932 Non-alcoholic fatty liver disease
    4718 (NDUFC2)
SSDB
Motif
Pfam: NDUF_C2 HL_N-beta
Other DBs
NCBI-GeneID: 4718
NCBI-ProteinID: NP_004540
OMIM: 603845
HGNC: 7706
Ensembl: ENSG00000151366
UniProt: O95298
Structure
LinkDB
Position
11:complement(78068297..78079862)
AA seq 119 aa
MIARRNPEPLRFLPDEARSLPPPKLTDPRLLYIGFLGYCSGLIDNLIRRRPIATAGLHRQ
LLYITAFFFAGYYLVKREDYLYAVRDREMFGYMKLHPEDFPEEDKKTYGEIFEKFHPIR
NT seq 360 nt   +upstreamnt  +downstreamnt
atgatcgcacggcggaacccagaacccttacggtttctgccggatgaggcccggagcctg
cccccgcccaagctgaccgacccgcggctcctctacatcggcttcttgggctactgctcc
ggcctgattgataacctaatccggcggaggccgatcgcgacggctggtttgcatcgccag
cttctatatattacggcctttttttttgctggatattatcttgtaaaacgtgaagactac
ctgtatgctgtgagggaccgtgaaatgtttggatatatgaaattacatccagaggatttt
cctgaagaagataagaaaacatatggtgaaatttttgaaaaattccatccaatacgttga

KEGG   Homo sapiens (human): 51103
Entry
51103             CDS       T01001                                 
Symbol
NDUFAF1, CGI-65, CGI65, CIA30, MC1DN11
Name
(RefSeq) NADH:ubiquinone oxidoreductase complex assembly factor 1
  KO
K18159  NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 1
Organism
hsa  Homo sapiens (human)
Pathway
hsa04714  Thermogenesis
Network
nt06529  Thermogenesis
  Element
N01691  mitochondrial complex - UCP1 in Thermogenesis
Disease
H00473  Mitochondrial complex I deficiency
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09150 Organismal Systems
  09159 Environmental adaptation
   04714 Thermogenesis
    51103 (NDUFAF1)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03029 Mitochondrial biogenesis [BR:hsa03029]
    51103 (NDUFAF1)
Mitochondrial biogenesis [BR:hsa03029]
 Mitochondrial quality control factors
  Mitochondrial respiratory chain complex assembly factors
   Complex-I assembly factors
    51103 (NDUFAF1)
SSDB
Motif
Pfam: CIA30 CBM_11
Other DBs
NCBI-GeneID: 51103
NCBI-ProteinID: NP_057097
OMIM: 606934
HGNC: 18828
Ensembl: ENSG00000137806
UniProt: Q9Y375
LinkDB
Position
15:complement(41387353..41403026)
AA seq 327 aa
MALVHKLLRGTYFLRKFSKPTSALYPFLGIRFAEYSSSLQKPVASPGKASSQRKTEGDLQ
GDHQKEVALDITSSEEKPDVSFDKAIRDEAIYHFRLLKDEIVDHWRGPEGHPLHEVLLEQ
AKVVWQFRGKEDLDKWTVTSDKTIGGRSEVFLKMGKNNQSALLYGTLSSEAPQDGESTRS
GYCAMISRIPRGAFERKMSYDWSQFNTLYLRVRGDGRPWMVNIKEDTDFFQRTNQMYSYF
MFTRGGPYWQEVKIPFSKFFFSNRGRIRDVQHELPLDKISSIGFTLADKVDGPFFLEIDF
IGVFTDPAHTEEFAYENSPELNPRLFK
NT seq 984 nt   +upstreamnt  +downstreamnt
atggctttggttcacaaattgctgcgtggtacttattttctcagaaaattctctaagcca
acttctgccttgtatccatttttgggtattcgctttgcagagtattccagtagtcttcag
aaaccagtggcttctcctggcaaagcctcctcacagaggaagactgaaggggatttgcaa
ggagatcaccagaaagaagttgctttggatataacttcttctgaggagaagcctgatgtt
agtttcgataaagcaattagagatgaagcaatataccattttaggcttttgaaggatgaa
attgtggatcattggagaggaccggaaggccaccctctgcatgaggtcttgctggaacaa
gccaaggttgtctggcaattccgggggaaagaagatttggataagtggacagtgacttct
gataagacgattggaggcagaagtgaagtgtttttgaaaatgggcaagaataaccaaagt
gcactgctatatggaactctgagctctgaggcgcctcaggacggggagtctacccgaagt
gggtactgtgcaatgatatccaggattccaaggggtgcttttgagaggaagatgtcttac
gattggtcccagttcaatactctgtatctccgtgtacgtggggatggtcggccttggatg
gtgaatatcaaggaggacacagatttcttccagaggacgaatcagatgtatagttacttc
atgttcacccgcgggggaccctactggcaggaggtcaagattcctttttccaaatttttc
ttctctaatcgaggaagaatccgggatgttcagcatgagcttccgcttgataagatctct
tctataggattcaccttggctgataaagtggatggtccattcttcctggagatagatttt
attggcgtgtttactgatccagctcatacagaagaatttgcctatgaaaattctccagag
cttaacccaaggctttttaaataa

KEGG   Homo sapiens (human): 91942
Entry
91942             CDS       T01001                                 
Symbol
NDUFAF2, B17.2L, MC1DN10, MMTN, NDUFA12L, mimitin
Name
(RefSeq) NADH:ubiquinone oxidoreductase complex assembly factor 2
  KO
K18160  NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 2
Organism
hsa  Homo sapiens (human)
Pathway
hsa04714  Thermogenesis
Network
nt06529  Thermogenesis
  Element
N01691  mitochondrial complex - UCP1 in Thermogenesis
Disease
H00473  Mitochondrial complex I deficiency
H01354  Leigh syndrome
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09150 Organismal Systems
  09159 Environmental adaptation
   04714 Thermogenesis
    91942 (NDUFAF2)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03029 Mitochondrial biogenesis [BR:hsa03029]
    91942 (NDUFAF2)
Mitochondrial biogenesis [BR:hsa03029]
 Mitochondrial quality control factors
  Mitochondrial respiratory chain complex assembly factors
   Complex-I assembly factors
    91942 (NDUFAF2)
SSDB
Motif
Pfam: NDUFA12
Other DBs
NCBI-GeneID: 91942
NCBI-ProteinID: NP_777549
OMIM: 609653
HGNC: 28086
Ensembl: ENSG00000164182
UniProt: Q8N183 A0A0S2Z5U1
LinkDB
Position
5:60945205..61153026
AA seq 169 aa
MGWSQDLFRALWRSLSREVKEHVGTDQFGNKYYYIPQYKNWRGQTIREKRIVEAANKKEV
DYEAGDIPTEWEAWIRRTRKTPPTMEEILKNEKHREEIKIKSQDFYEKEKLLSKETSEEL
LPPPVQTQIKGHASAPYFGKEEPSVAPSSTGKTFQPGSWMPRDGKSHNQ
NT seq 510 nt   +upstreamnt  +downstreamnt
atgggttggtctcaggatttgttccgcgccttgtggagatcgctgtcaagggaagtgaag
gagcacgtgggcacggaccaattcgggaacaaatactactacatcccgcagtacaagaac
tggagaggacaaactattcgagagaaaagaattgtagaagcagcaaataaaaaagaagta
gactatgaagcaggggatattccaacagaatgggaagcttggattagaagaacaagaaag
actccacctactatggaggaaatactaaagaatgaaaaacacagagaagaaatcaaaata
aaaagccaagatttttatgaaaaagaaaaactccttagtaaagagaccagtgaggaactc
ctgcctccaccagttcaaactcaaattaaaggccatgcctctgctccatactttggaaag
gaagaaccctcagtggctcccagcagcactggtaaaacctttcagccaggatcctggatg
ccacgagatggcaagagccacaatcaatga

KEGG   Homo sapiens (human): 25915
Entry
25915             CDS       T01001                                 
Symbol
NDUFAF3, 2P1, C3orf60, E3-3, MC1DN18
Name
(RefSeq) NADH:ubiquinone oxidoreductase complex assembly factor 3
  KO
K09008  NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 3
Organism
hsa  Homo sapiens (human)
Pathway
hsa04714  Thermogenesis
Network
nt06529  Thermogenesis
  Element
N01691  mitochondrial complex - UCP1 in Thermogenesis
Disease
H00473  Mitochondrial complex I deficiency
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09150 Organismal Systems
  09159 Environmental adaptation
   04714 Thermogenesis
    25915 (NDUFAF3)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03029 Mitochondrial biogenesis [BR:hsa03029]
    25915 (NDUFAF3)
Mitochondrial biogenesis [BR:hsa03029]
 Mitochondrial quality control factors
  Mitochondrial respiratory chain complex assembly factors
   Complex-I assembly factors
    25915 (NDUFAF3)
SSDB
Motif
Pfam: DUF498 NAD_binding_7
Other DBs
NCBI-GeneID: 25915
NCBI-ProteinID: NP_951032
OMIM: 612911
HGNC: 29918
Ensembl: ENSG00000178057
UniProt: Q9BU61 Q9Y3Z0
LinkDB
Position
3:49020452..49023495
AA seq 184 aa
MATALALRSLYRARPSLRCPPVELPWAPRRGHRLSPADDELYQRTRISLLQREAAQAMYI
DSYNSRGFMINGNRVLGPCALLPHSVVQWNVGSHQDITEDSFSLFWLLEPRIEIVVVGTG
DRTERLQSQVLQAMRQRGIAVEVQDTPNACATFNFLCHEGRVTGAALIPPPGGTSLTSLG
QAAQ
NT seq 555 nt   +upstreamnt  +downstreamnt
atggccaccgctctcgcgctacgtagcttgtaccgagcgcgaccctcgctgcgctgtccg
cccgttgagcttccctgggccccgcggcgagggcatcggctctcgccggcggatgacgag
ctgtatcagcggacgcgcatctctctgctgcaacgcgaggccgctcaggcaatgtacatc
gacagctacaacagccgcggcttcatgataaacggaaaccgcgtgctcggcccctgcgct
ctgctcccgcactcggtggtgcagtggaacgtgggatcccaccaggacatcaccgaagac
agcttttccctcttctggttgctggagccccggatagagatcgtggtggtggggactgga
gaccggaccgagaggctgcagtcccaggtgcttcaagccatgaggcagcggggcattgct
gtggaagtgcaggacacgcccaatgcctgtgccaccttcaacttcctgtgtcatgaaggc
cgagtaactggagctgctctcatccctccaccaggagggacttcacttacatctttgggc
caagctgctcaatga

KEGG   Homo sapiens (human): 29078
Entry
29078             CDS       T01001                                 
Symbol
NDUFAF4, C6orf66, HRPAP20, HSPC125, MC1DN15, My013, bA22L21.1
Name
(RefSeq) NADH:ubiquinone oxidoreductase complex assembly factor 4
  KO
K18161  NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 4
Organism
hsa  Homo sapiens (human)
Pathway
hsa04714  Thermogenesis
Network
nt06529  Thermogenesis
  Element
N01691  mitochondrial complex - UCP1 in Thermogenesis
Disease
H00473  Mitochondrial complex I deficiency
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09150 Organismal Systems
  09159 Environmental adaptation
   04714 Thermogenesis
    29078 (NDUFAF4)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03029 Mitochondrial biogenesis [BR:hsa03029]
    29078 (NDUFAF4)
Mitochondrial biogenesis [BR:hsa03029]
 Mitochondrial quality control factors
  Mitochondrial respiratory chain complex assembly factors
   Complex-I assembly factors
    29078 (NDUFAF4)
SSDB
Motif
Pfam: UPF0240 TibC_1st
Other DBs
NCBI-GeneID: 29078
NCBI-ProteinID: NP_054884
OMIM: 611776
HGNC: 21034
Ensembl: ENSG00000123545
UniProt: Q9P032
LinkDB
Position
6:complement(96889315..96897891)
AA seq 175 aa
MGALVIRGIRNFNLENRAEREISKMKPSVAPRHPSTNSLLREQISLYPEVKGEIARKDEK
LLSFLKDVYVDSKDPVSSLQVKAAETCQEPKEFRLPKDHHFDMINIKSIPKGKISIVEAL
TLLNNHKLFPETWTAEKIMQEYQLEQKDVNSLLKYFVTFEVEIFPPEDKKAIRSK
NT seq 528 nt   +upstreamnt  +downstreamnt
atgggagcactagtgattcgcggtatcaggaatttcaacctagagaaccgagcggaacgg
gaaatcagcaagatgaagccctctgtcgctcccagacacccctctaccaacagcctcctg
cgagagcagattagtctctatccagaagttaaaggagagattgctcgtaaagatgaaaag
ctgctgtcgtttctaaaagatgtgtatgttgattccaaagatcctgtgtcttccttgcag
gtaaaagctgctgaaacatgtcaagagccgaaggaattcagattgccgaaagaccatcat
tttgatatgataaatattaagagcattcccaaaggcaaaatttccattgtagaagcattg
acacttctcaataatcataagcttttcccagaaacctggactgctgagaaaataatgcag
gaataccagttagaacagaaagatgtgaattctcttcttaaatattttgttacttttgaa
gtcgaaatcttccctcctgaagacaagaaagcaatacgatcaaaatga

KEGG   Homo sapiens (human): 79133
Entry
79133             CDS       T01001                                 
Symbol
NDUFAF5, C20orf7, MC1DN16, bA526K24.2, dJ842G6.1
Name
(RefSeq) NADH:ubiquinone oxidoreductase complex assembly factor 5
  KO
K18162  NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 5 [EC:2.1.1.-]
Organism
hsa  Homo sapiens (human)
Pathway
hsa04714  Thermogenesis
Network
nt06529  Thermogenesis
  Element
N01691  mitochondrial complex - UCP1 in Thermogenesis
Disease
H00473  Mitochondrial complex I deficiency
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09150 Organismal Systems
  09159 Environmental adaptation
   04714 Thermogenesis
    79133 (NDUFAF5)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03029 Mitochondrial biogenesis [BR:hsa03029]
    79133 (NDUFAF5)
Mitochondrial biogenesis [BR:hsa03029]
 Mitochondrial quality control factors
  Mitochondrial respiratory chain complex assembly factors
   Complex-I assembly factors
    79133 (NDUFAF5)
SSDB
Motif
Pfam: Methyltransf_11 Methyltransf_23 Methyltransf_25 Methyltransf_12 Methyltransf_31 Ubie_methyltran Methyltransf_29 mRNA_G-N7_MeTrfase MetW FtsJ MTS Methyltransf_7
Other DBs
NCBI-GeneID: 79133
NCBI-ProteinID: NP_077025
OMIM: 612360
HGNC: 15899
Ensembl: ENSG00000101247
UniProt: Q5TEU4
LinkDB
Position
20:13785028..13821580
AA seq 345 aa
MLRPAGLWRLCRRPWAARVPAENLGRREVTSGVSPRGSTSPRTLNIFDRDLKRKQKNWAA
RQPEPTKFDYLKEEVGSRIADRVYDIPRNFPLALDLGCGRGYIAQYLNKETIGKFFQADI
AENALKNSSETEIPTVSVLADEEFLPFKENTFDLVVSSLSLHWVNDLPRALEQIHYILKP
DGVFIGAMFGGDTLYELRCSLQLAETEREGGFSPHISPFTAVNDLGHLLGRAGFNTLTVD
TDEIQVNYPGMFELMEDLQGMGESNCAWNRKALLHRDTMLAAAAVYREMYRNEDGSVPAT
YQIYYMIGWKYHESQARPAERGSATVSFGELGKINNLMPPGKKSQ
NT seq 1038 nt   +upstreamnt  +downstreamnt
atgctgcggccggcagggctctggcgcttatgtcggcgaccttgggcggcgagggtccca
gcggagaatcttggccgtagggaagtcacctctggtgtctctccccgcggtagcacctcg
cccagaaccctgaatattttcgaccgggatttgaaaaggaaacagaagaactgggcagcc
cggcagcccgagccgaccaaatttgactacctgaaggaggaggttggaagtcggatcgca
gaccgtgtatatgacatacccagaaatttcccccttgctttggatcttggttgtggaaga
ggttacattgcacaatatttgaataaggaaactattggaaagtttttccaagctgacatt
gcagaaaatgctttgaaaaattcctcagaaacagaaatacctactgtcagcgttttagct
gatgaagaattccttcccttcaaagaaaatacatttgacctggtggttagcagtttaagt
ttgcattgggtgaatgaccttcctagagcacttgagcagattcattatattttaaaacca
gatggagtgtttatcggtgcaatgtttggaggcgacacactctatgaacttcggtgttcc
ttacagttagcggaaacggaaagggaaggaggattttctccacacatttctcctttcact
gctgtcaatgacctgggacatctgcttgggagagctggctttaatactctgactgtggac
actgatgaaattcaagttaactatcctggaatgtttgaattgatggaagatttacaaggt
atgggtgagagtaactgtgcttggaatagaaaagccctgctgcatcgagacacaatgctg
gcagctgcggcagtgtacagagaaatgtacagaaatgaagatggttcagtacctgctaca
taccagatctattacatgataggatggaaatatcatgagtcacaggcaagaccagctgaa
agaggttccgcaactgtgtcatttggagagctaggaaaaataaacaaccttatgccaccg
gggaaaaaatcacaataa

KEGG   Homo sapiens (human): 137682
Entry
137682            CDS       T01001                                 
Symbol
NDUFAF6, C8orf38, FRTS5, MC1DN17
Name
(RefSeq) NADH:ubiquinone oxidoreductase complex assembly factor 6
  KO
K18163  NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 6
Organism
hsa  Homo sapiens (human)
Pathway
hsa04714  Thermogenesis
Network
nt06529  Thermogenesis
  Element
N01691  mitochondrial complex - UCP1 in Thermogenesis
Disease
H00473  Mitochondrial complex I deficiency
H01198  Fanconi renotubular syndrome
H01354  Leigh syndrome
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09150 Organismal Systems
  09159 Environmental adaptation
   04714 Thermogenesis
    137682 (NDUFAF6)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03029 Mitochondrial biogenesis [BR:hsa03029]
    137682 (NDUFAF6)
Mitochondrial biogenesis [BR:hsa03029]
 Mitochondrial quality control factors
  Mitochondrial respiratory chain complex assembly factors
   Complex-I assembly factors
    137682 (NDUFAF6)
SSDB
Motif
Pfam: SQS_PSY
Other DBs
NCBI-GeneID: 137682
NCBI-ProteinID: NP_689629
OMIM: 612392
HGNC: 28625
Ensembl: ENSG00000156170
UniProt: Q330K2
LinkDB
Position
8:94895799..95118496
AA seq 333 aa
MAASAHGSVWGPLRLGIPGLCCRRPPLGLYARMRRLPGPEVSGRSVAAASGPGAWGTDHY
CLELLRKRDYEGYLCSLLLPAESRSSVFALRAFNVELAQVKDSVSEKTIGLMRMQFWKKT
VEDIYCDNPPHQPVAIELWKAVKRHNLTKRWLMKIVDEREKNLDDKAYRNIKELENYAEN
TQSSLLYLTLEILGIKDLHADHAASHIGKAQGIVTCLRATPYHGSRRKVFLPMDICMLHG
VSQEDFLRRNQDKNVRDVIYDIASQAHLHLKHARSFHKTVPVKAFPAFLQTVSLEDFLKK
IQRVDFDIFHPSLQQKNTLLPLYLYIQSWRKTY
NT seq 1002 nt   +upstreamnt  +downstreamnt
atggcggcctccgcgcacggctctgtctgggggccgttgcggcttggcatccccggcctg
tgctgccgccggccgcctctgggtctgtacgcgcgcatgcggcggctgcccgggccggag
gtgtctgggcggagcgtggctgcggccagcggaccgggcgcctggggcactgaccactac
tgcctggagctgctgcggaaacgggattatgaaggttatttatgctccctgctgctccct
gcagaatcccgaagctctgtttttgcactgagggcctttaatgtggaactggctcaggtt
aaagactcagtctctgagaaaacaattggactgatgcgaatgcagttttggaaaaaaact
gtggaagatatatactgtgacaatccaccacatcagcctgtggccattgaactatggaag
gctgttaaaagacataatctgactaaaagatggcttatgaaaatcgtcgatgaaagagaa
aaaaatctggatgacaaagcatatcgtaatatcaaggaactggaaaattatgctgaaaac
acacagagctctcttctttacttaacactagaaatattgggtataaaggatcttcatgca
gatcatgctgcaagtcatattggaaaagcacaaggcattgtcacttgcttgagagcaaca
ccatatcatgggagcagaagaaaggtgttccttcccatggatatttgtatgctgcatggt
gtttcacaagaggactttctacggaggaaccaagataaaaatgtgagagatgtaatatat
gacattgccagtcaagcacacttgcacctaaagcatgctaggtcctttcacaaaactgtt
cctgtgaaagcatttcctgcttttcttcagacggtttctctagaggactttctaaagaaa
attcagcgagtggattttgatatattccacccatctttacagcagaagaatacattactt
ccattatatttgtatattcagtcatggagaaaaacatattaa

KEGG   Homo sapiens (human): 284184
Entry
284184            CDS       T01001                                 
Symbol
NDUFAF8, C17orf89, MC1DN34
Name
(RefSeq) NADH:ubiquinone oxidoreductase complex assembly factor 8
  KO
K24726  NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 8
Organism
hsa  Homo sapiens (human)
Pathway
hsa04714  Thermogenesis
Network
nt06529  Thermogenesis
  Element
N01691  mitochondrial complex - UCP1 in Thermogenesis
Disease
H00473  Mitochondrial complex I deficiency
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09150 Organismal Systems
  09159 Environmental adaptation
   04714 Thermogenesis
    284184 (NDUFAF8)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03029 Mitochondrial biogenesis [BR:hsa03029]
    284184 (NDUFAF8)
Mitochondrial biogenesis [BR:hsa03029]
 Mitochondrial quality control factors
  Mitochondrial respiratory chain complex assembly factors
   Complex-I assembly factors
    284184 (NDUFAF8)
SSDB
Motif
Pfam: CX9C
Other DBs
NCBI-GeneID: 284184
NCBI-ProteinID: NP_001079990
OMIM: 618461
HGNC: 33551
Ensembl: ENSG00000224877
UniProt: A1L188
LinkDB
Position
17:81239311..81241310
AA seq 74 aa
MSANGAVWGRVRSRLRAFPERLAACGAEAAAYGRCVQASTAPGGRLSKDFCAREFEALRS
CFAAAAKKTLEGGC
NT seq 225 nt   +upstreamnt  +downstreamnt
atgtcggctaacggagcggtgtggggccgcgtgcgaagccgcctccgcgccttccccgag
cggctggccgcctgcggggccgaggccgcggcgtacggcaggtgcgtgcaggcctccacg
gccccgggcggccgcctgagtaaggacttctgcgcgcgggagttcgaggccctgcggagc
tgcttcgccgctgcggccaagaagacgctggagggaggctgttag

KEGG   Homo sapiens (human): 4713
Entry
4713              CDS       T01001                                 
Symbol
NDUFB7, B18, CI-B18, MC1DN39
Name
(RefSeq) NADH:ubiquinone oxidoreductase subunit B7
  KO
K03963  NADH dehydrogenase (ubiquinone) 1 beta subcomplex subunit 7
Organism
hsa  Homo sapiens (human)
Pathway
hsa00190  Oxidative phosphorylation
hsa01100  Metabolic pathways
hsa04714  Thermogenesis
hsa04723  Retrograde endocannabinoid signaling
hsa04932  Non-alcoholic fatty liver disease
hsa05010  Alzheimer disease
hsa05012  Parkinson disease
hsa05014  Amyotrophic lateral sclerosis
hsa05016  Huntington disease
hsa05020  Prion disease
hsa05022  Pathways of neurodegeneration - multiple diseases
hsa05208  Chemical carcinogenesis - reactive oxygen species
hsa05415  Diabetic cardiomyopathy
Module
hsa_M00147  NADH dehydrogenase (ubiquinone) 1 beta subcomplex
Network
nt06460  Alzheimer disease
nt06463  Parkinson disease
nt06464  Amyotrophic lateral sclerosis
nt06466  Pathways of neurodegeneration
nt06529  Thermogenesis
  Element
N00995  Electron transfer in Complex I
N00997  Mutation-caused aberrant Abeta to electron transfer in Complex I
N01042  Mutation-caused aberrant SNCA to electron transfer in Complex I
N01043  Mutation-inactivated PINK1 to electron transfer in Complex I
N01044  MPP+ to electron transfer in Complex I
N01045  Rotenone to electron transfer in Complex I
N01136  Mutation-caused aberrant TDP43 to electron transfer in Complex I
N01691  mitochondrial complex - UCP1 in Thermogenesis
Disease
H00473  Mitochondrial complex I deficiency
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09100 Metabolism
  09102 Energy metabolism
   00190 Oxidative phosphorylation
    4713 (NDUFB7)
 09150 Organismal Systems
  09156 Nervous system
   04723 Retrograde endocannabinoid signaling
    4713 (NDUFB7)
  09159 Environmental adaptation
   04714 Thermogenesis
    4713 (NDUFB7)
 09160 Human Diseases
  09161 Cancer: overview
   05208 Chemical carcinogenesis - reactive oxygen species
    4713 (NDUFB7)
  09164 Neurodegenerative disease
   05010 Alzheimer disease
    4713 (NDUFB7)
   05012 Parkinson disease
    4713 (NDUFB7)
   05014 Amyotrophic lateral sclerosis
    4713 (NDUFB7)
   05016 Huntington disease
    4713 (NDUFB7)
   05020 Prion disease
    4713 (NDUFB7)
   05022 Pathways of neurodegeneration - multiple diseases
    4713 (NDUFB7)
  09166 Cardiovascular disease
   05415 Diabetic cardiomyopathy
    4713 (NDUFB7)
  09167 Endocrine and metabolic disease
   04932 Non-alcoholic fatty liver disease
    4713 (NDUFB7)
SSDB
Motif
Pfam: NDUF_B7 OrfB_IS605 Cmc1
Other DBs
NCBI-GeneID: 4713
NCBI-ProteinID: NP_004137
OMIM: 603842
HGNC: 7702
Ensembl: ENSG00000099795
UniProt: P17568
Structure
LinkDB
Position
19:complement(14566078..14572066)
AA seq 137 aa
MGAHLVRRYLGDASVEPDPLQMPTFPPDYGFPERKEREMVATQQEMMDAQLRLQLRDYCA
HHLIRLLKCKRDSFPNFLACKQERHDWDYCEHRDYVMRMKEFERERRLLQRKKRREKKAA
ELAKGQGPGEVDPKVAL
NT seq 414 nt   +upstreamnt  +downstreamnt
atgggggcccacctggtccggcgctacctgggcgatgcctcggtggagcccgaccccctg
cagatgccaaccttcccgccagactacggcttccccgaacgcaaggagcgcgagatggtg
gccacacagcaggagatgatggacgcgcagctgaggctccagctgcgggactactgcgcc
caccacctcatccggctgctcaagtgcaagcgtgacagcttccccaacttcctggcctgc
aagcaggagcggcacgactgggactactgcgagcaccgcgactatgtgatgcgcatgaag
gagtttgagcgggagcggaggctgctccagcggaagaagcggcgggagaagaaggcggca
gagttggccaaaggccagggacccggggaagtggaccccaaggtggccctgtag

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