KEGG   Homo sapiens (human): 4211
Entry
4211              CDS       T01001                                 
Symbol
MEIS1
Name
(RefSeq) Meis homeobox 1
  KO
K15613  homeobox protein Meis1
Organism
hsa  Homo sapiens (human)
Pathway
hsa04550  Signaling pathways regulating pluripotency of stem cells
hsa05202  Transcriptional misregulation in cancer
Network
nt06240  Transcription (cancer)
  Element
N00120  MLL-ENL fusion to transcriptional activation
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09140 Cellular Processes
  09144 Cellular community - eukaryotes
   04550 Signaling pathways regulating pluripotency of stem cells
    4211 (MEIS1)
 09160 Human Diseases
  09161 Cancer: overview
   05202 Transcriptional misregulation in cancer
    4211 (MEIS1)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03000 Transcription factors [BR:hsa03000]
    4211 (MEIS1)
Transcription factors [BR:hsa03000]
 Eukaryotic type
  Helix-turn-helix
   Homeo domain TALE
    4211 (MEIS1)
SSDB
Motif
Pfam: Meis_PKNOX_N Homeobox_KN Homeodomain
Other DBs
NCBI-GeneID: 4211
NCBI-ProteinID: NP_002389
OMIM: 601739
HGNC: 7000
Ensembl: ENSG00000143995
UniProt: O00470
Structure
LinkDB
Position
2:66435125..66573869
AA seq 390 aa
MAQRYDDLPHYGGMDGVGIPSTMYGDPHAARSMQPVHHLNHGPPLHSHQYPHTAHTNAMA
PSMGSSVNDALKRDKDAIYGHPLFPLLALIFEKCELATCTPREPGVAGGDVCSSESFNED
IAVFAKQIRAEKPLFSSNPELDNLMIQAIQVLRFHLLELEKVHELCDNFCHRYISCLKGK
MPIDLVIDDREGGSKSDSEDITRSANLTDQPSWNRDHDDTASTRSGGTPGPSSGGHTSHS
GDNSSEQGDGLDNSVASPSTGDDDDPDKDKKRHKKRGIFPKVATNIMRAWLFQHLTHPYP
SEEQKKQLAQDTGLTILQVNNWFINARRRIVQPMIDQSNRAVSQGTPYNPDGQPMGGFVM
DGQQHMGIRAPGPMSGMGMNMGMEGQWHYM
NT seq 1173 nt   +upstreamnt  +downstreamnt
atggcgcaaaggtacgacgatctaccccattacgggggcatggatggagtaggcatcccc
tccacgatgtatggggacccgcatgcagccaggtccatgcagccggtccaccacctgaac
cacgggcctcctctgcactcgcatcagtacccgcacacagctcataccaacgccatggcc
cccagcatgggctcctctgtcaatgacgctttaaagagagataaagatgccatttatgga
caccccctcttccctctcttagcactgatttttgagaaatgtgaattagctacttgtacc
ccccgcgagccgggggtggcgggcggggacgtctgctcgtcagagtcattcaatgaagat
atagccgtgttcgccaaacagattcgcgcagaaaaacctctattttcttctaatccagaa
ctggataacttgatgattcaagccatacaagtattaaggtttcatctattggaattagag
aaggtacacgaattatgtgacaatttctgccaccggtatattagctgtttgaaagggaaa
atgcctatcgatttggtgatagacgatagagaaggaggatcaaaatcagacagtgaagat
ataacaagatcagcaaatctaactgaccagccctcttggaacagagatcatgatgacacg
gcatctactcgttcaggaggaaccccaggcccttccagcggtggccacacgtcacacagt
ggggacaacagcagtgagcaaggtgatggcttggacaacagtgtagcttcccccagcaca
ggtgacgatgatgaccctgataaggacaaaaagcgtcacaaaaagcgtggcatctttccc
aaagtagccacaaatatcatgagggcgtggctgttccagcatctaacacacccttaccct
tctgaagaacagaaaaagcagttggcacaagacacgggactcaccatccttcaagtgaac
aattggtttattaatgcccggagaagaatagtgcagcccatgatagaccagtccaaccga
gcagtaagtcaaggaacaccttataatcctgatggacagcccatgggaggtttcgtaatg
gacggtcagcaacatatgggaattagagcaccaggacctatgagtggaatgggcatgaat
atgggcatggaggggcagtggcactacatgtaa

KEGG   Homo sapiens (human): 3205
Entry
3205              CDS       T01001                                 
Symbol
HOXA9, ABD-B, HOX1, HOX1.7, HOX1G
Name
(RefSeq) homeobox A9
  KO
K21950  homeobox protein Hox-A9
Organism
hsa  Homo sapiens (human)
Pathway
hsa05202  Transcriptional misregulation in cancer
Network
nt06240  Transcription (cancer)
  Element
N00119  MLL-AF4 fusion to transcriptional activation
N00120  MLL-ENL fusion to transcriptional activation
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09160 Human Diseases
  09161 Cancer: overview
   05202 Transcriptional misregulation in cancer
    3205 (HOXA9)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03000 Transcription factors [BR:hsa03000]
    3205 (HOXA9)
Transcription factors [BR:hsa03000]
 Eukaryotic type
  Helix-turn-helix
   Homeo domain ANTP: HOXL
    3205 (HOXA9)
SSDB
Motif
Pfam: Hox9_act Homeodomain Homeobox_KN
Other DBs
NCBI-GeneID: 3205
NCBI-ProteinID: NP_689952
OMIM: 142956
HGNC: 5109
Ensembl: ENSG00000078399
UniProt: P31269
LinkDB
Position
7:complement(27162438..27165537)
AA seq 272 aa
MATTGALGNYYVDSFLLGADAADELSVGRYAPGTLGQPPRQAATLAEHPDFSPCSFQSKA
TVFGASWNPVHAAGANAVPAAVYHHHHHHPYVHPQAPVAAAAPDGRYMRSWLEPTPGALS
FAGLPSSRPYGIKPEPLSARRGDCPTLDTHTLSLTDYACGSPPVDREKQPSEGAFSENNA
ENESGGDKPPIDPNNPAANWLHARSTRKKRCPYTKHQTLELEKEFLFNMYLTRDRRYEVA
RLLNLTERQVKIWFQNRRMKMKKINKDRAKDE
NT seq 819 nt   +upstreamnt  +downstreamnt
atggccaccactggggccctgggcaactactacgtggactcgttcctgctgggcgccgac
gccgcggatgagctgagcgttggccgctatgcgccggggaccctgggccagcctccccgg
caggcggcgacgctggccgagcaccccgacttcagcccgtgcagcttccagtccaaggcg
acggtgtttggcgcctcgtggaacccagtgcacgcggcgggcgccaacgctgtacccgct
gcggtgtaccaccaccatcaccaccacccctacgtgcacccccaggcgcccgtggcggcg
gcggcgccggacggcaggtacatgcgctcctggctggagcccacgcccggtgcgctctcc
ttcgcgggcttgccctccagccggccttatggcattaaacctgaaccgctgtcggccaga
aggggtgactgtcccacgcttgacactcacactttgtccctgactgactatgcttgtggt
tctcctccagttgatagagaaaaacaacccagcgaaggcgccttctctgaaaacaatgct
gagaatgagagcggcggagacaagccccccatcgatcccaataacccagcagccaactgg
cttcatgcgcgctccactcggaaaaagcggtgcccctatacaaaacaccagaccctggaa
ctggagaaagagtttctgttcaacatgtacctcaccagggaccgcaggtacgaggtggct
cgactgctcaacctcaccgagaggcaggtcaagatctggttccagaaccgcaggatgaaa
atgaagaaaatcaacaaagaccgagcaaaagacgagtga

KEGG   Homo sapiens (human): 3206
Entry
3206              CDS       T01001                                 
Symbol
HOXA10, HOX1, HOX1.8, HOX1H, PL
Name
(RefSeq) homeobox A10
  KO
K17443  homrobox protein Hox-A10
Organism
hsa  Homo sapiens (human)
Pathway
hsa05202  Transcriptional misregulation in cancer
Network
nt06240  Transcription (cancer)
  Element
N00119  MLL-AF4 fusion to transcriptional activation
N00120  MLL-ENL fusion to transcriptional activation
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09160 Human Diseases
  09161 Cancer: overview
   05202 Transcriptional misregulation in cancer
    3206 (HOXA10)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03000 Transcription factors [BR:hsa03000]
    3206 (HOXA10)
Transcription factors [BR:hsa03000]
 Eukaryotic type
  Helix-turn-helix
   Homeo domain ANTP: HOXL
    3206 (HOXA10)
SSDB
Motif
Pfam: Homeodomain Homeobox_KN
Other DBs
NCBI-GeneID: 3206
NCBI-ProteinID: NP_061824
OMIM: 142957
HGNC: 5100
Ensembl: ENSG00000253293
UniProt: P31260
LinkDB
Position
7:complement(27170605..27179861)
AA seq 410 aa
MSARKGYLLPSPNYPTTMSCSESPAANSFLVDSLISSGRGEAGGGGGGAGGGGGGGYYAH
GGVYLPPAADLPYGLQSCGLFPTLGGKRNEAASPGSGGGGGGLGPGAHGYGPSPIDLWLD
APRSCRMEPPDGPPPPPQQQPPPPPQPPQPAPQATSCSFAQNIKEESSYCLYDSADKCPK
VSATAAELAPFPRGPPPDGCALGTSSGVPVPGYFRLSQAYGTAKGYGSGGGGAQQLGAGP
FPAQPPGRGFDLPPALASGSADAARKERALDSPPPPTLACGSGGGSQGDEEAHASSSAAE
ELSPAPSESSKASPEKDSLGNSKGENAANWLTAKSGRKKRCPYTKHQTLELEKEFLFNMY
LTRERRLEISRSVHLTDRQVKIWFQNRRMKLKKMNRENRIRELTANFNFS
NT seq 1233 nt   +upstreamnt  +downstreamnt
atgtcagccagaaagggctatctgctcccttcgccaaattatcccacaacaatgtcatgc
tcggagagccccgccgcgaactcttttttggtcgactcgctcatcagctcgggcagaggc
gaggcaggcggcggtggtggtggcgcggggggcggcggcggtggcggttactacgcccac
ggcggggtctacctgccgcccgccgccgacctgccctacgggctgcagagctgcgggctc
ttccccacgctgggcggcaagcgcaatgaggcagcgtcgccgggcagcggtggcggtggc
gggggtctaggtcccggggcgcacggctacgggccctcgcccatagacctgtggctagac
gcgccccggtcttgccggatggagccgcctgacgggccgccgccgccgccccagcagcag
ccgccgcccccgccgcaaccaccccagccagcgccgcaggccacctcgtgctctttcgcg
cagaacatcaaagaagagagctcctactgcctctacgactcggcggacaaatgccccaaa
gtctcggccaccgccgccgaactggctcccttcccgcggggcccgccgcccgacggctgc
gccctgggcacctccagcggggtgccagtgcctggctacttccgcctttctcaggcctac
ggcaccgccaagggctatggcagcggcggcggcggcgcgcagcaactcggggctggcccg
ttccccgcgcagcccccggggcgcggtttcgatctcccgcccgcgctagcctccggctcg
gccgatgcggcccggaaggagcgagccctcgattcgccgccgccccccacgctggcttgc
ggcagcggcgggggctcgcagggcgacgaggaggcgcacgcgtcgtcctcggccgcggag
gagctctccccggccccttccgagagcagcaaagcctcgccggagaaggattccctgggc
aattccaaaggtgaaaacgcagccaactggctcacggcaaagagtggtcggaagaagcgc
tgcccctacacgaagcaccagacactggagctggagaaggagtttctgttcaatatgtac
cttactcgagagcggcgcctagagattagccgcagcgtccacctcacggacagacaagtg
aaaatctggtttcagaaccgcaggatgaaactgaagaaaatgaatcgagaaaaccggatc
cgggagctcacagccaactttaatttttcctga

KEGG   Homo sapiens (human): 3207
Entry
3207              CDS       T01001                                 
Symbol
HOXA11, HOX1, HOX1I, RUSAT1
Name
(RefSeq) homeobox A11
  KO
K21951  homeobox protein Hox-A11
Organism
hsa  Homo sapiens (human)
Pathway
hsa05202  Transcriptional misregulation in cancer
Network
nt06240  Transcription (cancer)
  Element
N00120  MLL-ENL fusion to transcriptional activation
Disease
H00867  Radioulnar synostosis with amegakaryocytic thrombocytopenia
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09160 Human Diseases
  09161 Cancer: overview
   05202 Transcriptional misregulation in cancer
    3207 (HOXA11)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03000 Transcription factors [BR:hsa03000]
    3207 (HOXA11)
Transcription factors [BR:hsa03000]
 Eukaryotic type
  Helix-turn-helix
   Homeo domain ANTP: HOXL
    3207 (HOXA11)
SSDB
Motif
Pfam: DUF3528 Homeodomain DTHCT Homeobox_KN
Other DBs
NCBI-GeneID: 3207
NCBI-ProteinID: NP_005514
OMIM: 142958
HGNC: 5101
Ensembl: ENSG00000005073
UniProt: P31270
LinkDB
Position
7:complement(27181157..27185232)
AA seq 313 aa
MDFDERGPCSSNMYLPSCTYYVSGPDFSSLPSFLPQTPSSRPMTYSYSSNLPQVQPVREV
TFREYAIEPATKWHPRGNLAHCYSAEELVHRDCLQAPSAAGVPGDVLAKSSANVYHHPTP
AVSSNFYSTVGRNGVLPQAFDQFFETAYGTPENLASSDYPGDKSAEKGPPAATATSAAAA
AAATGAPATSSSDSGGGGGCRETAAAAEEKERRRRPESSSSPESSSGHTEDKAGGSSGQR
TRKKRCPYTKYQIRELEREFFFSVYINKEKRLQLSRMLNLTDRQVKIWFQNRRMKEKKIN
RDRLQYYSANPLL
NT seq 942 nt   +upstreamnt  +downstreamnt
atggattttgatgagcgtggtccctgctcctctaacatgtatttgccaagttgtacttac
tacgtctcgggtccagatttctccagcctcccttcttttctgccccagaccccgtcttcg
cgcccaatgacatactcctactcctccaacctgccccaggtccaacccgtgcgcgaagtg
accttcagagagtacgccattgagcccgccactaaatggcacccccgcggcaatctggcc
cactgctactccgcggaggagctcgtgcacagagactgcctgcaggcgcccagcgcggcc
ggcgtgcctggcgacgtgctggccaagagctcggccaacgtctaccaccaccccaccccc
gcagtctcgtccaatttctatagcaccgtgggcaggaacggcgtcctgccacaggctttc
gaccagtttttcgagacagcctacggcaccccggaaaacctcgcctcctccgactacccc
ggggacaagagcgccgagaaggggcccccggcggccacggcgacctccgcggcggcggcg
gcggctgcaacgggcgcgccggcaacttcaagttcggacagcggcggcggcggcggctgc
cgggagacggcggcggcagcagaggagaaagagcggcggcggcgccccgagagcagcagc
agccccgagtcgtcttccggccacactgaggacaaggccggcggctccagtggccaacgc
acccgcaaaaagcgctgcccctataccaagtaccagatccgagagctggaacgggagttc
ttcttcagcgtctacattaacaaagagaagcgcctgcaactgtcccgcatgctcaacctc
actgatcgtcaagtcaaaatctggtttcagaacaggagaatgaaggaaaaaaaaattaac
agagaccgtttacagtactactcagcaaatccactcctctaa

KEGG   Homo sapiens (human): 6495
Entry
6495              CDS       T01001                                 
Symbol
SIX1, BOS3, DFNA23, TIP39
Name
(RefSeq) SIX homeobox 1
  KO
K15614  homeobox protein SIX1
Organism
hsa  Homo sapiens (human)
Pathway
hsa05202  Transcriptional misregulation in cancer
Network
nt06240  Transcription (cancer)
  Element
N00120  MLL-ENL fusion to transcriptional activation
Disease
H00453  Branchio-oto-renal syndrome
H00604  Deafness, autosomal dominant
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09160 Human Diseases
  09161 Cancer: overview
   05202 Transcriptional misregulation in cancer
    6495 (SIX1)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03000 Transcription factors [BR:hsa03000]
    6495 (SIX1)
Transcription factors [BR:hsa03000]
 Eukaryotic type
  Helix-turn-helix
   Homeo domain SINE
    6495 (SIX1)
SSDB
Motif
Pfam: SIX1_SD Homeodomain Homeobox_KN HTH_3 YdaS_toxin Phage_mat-A
Other DBs
NCBI-GeneID: 6495
NCBI-ProteinID: NP_005973
OMIM: 601205
HGNC: 10887
Ensembl: ENSG00000126778
UniProt: Q15475
Structure
LinkDB
Position
14:complement(60643421..60649477)
AA seq 284 aa
MSMLPSFGFTQEQVACVCEVLQQGGNLERLGRFLWSLPACDHLHKNESVLKAKAVVAFHR
GNFRELYKILESHQFSPHNHPKLQQLWLKAHYVEAEKLRGRPLGAVGKYRVRRKFPLPRT
IWDGEETSYCFKEKSRGVLREWYAHNPYPSPREKRELAEATGLTTTQVSNWFKNRRQRDR
AAEAKERENTENNNSSSNKQNQLSPLEGGKPLMSSSEEEFSPPQSPDQNSVLLLQGNMGH
ARSSNYSLPGLTASQPSHGLQTHQHQLQDSLLGPLTSSLVDLGS
NT seq 855 nt   +upstreamnt  +downstreamnt
atgtcgatgctgccgtcgtttggctttacgcaggagcaagtggcgtgcgtgtgcgaggtt
ctgcagcaaggcggaaacctggagcgcctgggcaggttcctgtggtcactgcccgcctgc
gaccacctgcacaagaacgagagcgtactcaaggccaaggcggtggtcgccttccaccgc
ggcaacttccgtgagctctacaagatcctggagagccaccagttctcgcctcacaaccac
cccaaactgcagcaactgtggctgaaggcgcattacgtggaggccgagaagctgcgcggc
cgacccctgggcgccgtgggcaaatatcgggtgcgccgaaaatttccactgccgcgcacc
atctgggacggcgaggagaccagctactgcttcaaggagaagtcgaggggtgtcctgcgg
gagtggtacgcgcacaatccctacccatcgccgcgtgagaagcgggagctggccgaggcc
accggcctcaccaccacccaggtcagcaactggtttaagaaccggaggcaaagagaccgg
gccgcggaggccaaggaaagggagaacaccgaaaacaataactcctcctccaacaagcag
aaccaactctctcctctggaagggggcaagccgctcatgtccagctcagaagaggaattc
tcacctccccaaagtccagaccagaactcggtccttctgctgcagggcaatatgggccac
gccaggagctcaaactattctctcccgggcttaacagcctcgcagcccagtcacggcctg
cagacccaccagcatcagctccaagactctctgctcggccccctcacctccagtctggtg
gacttggggtcctaa

KEGG   Homo sapiens (human): 51804
Entry
51804             CDS       T01001                                 
Symbol
SIX4, AREC3
Name
(RefSeq) SIX homeobox 4
  KO
K15615  homeobox protein SIX4
Organism
hsa  Homo sapiens (human)
Pathway
hsa05202  Transcriptional misregulation in cancer
Network
nt06240  Transcription (cancer)
  Element
N00120  MLL-ENL fusion to transcriptional activation
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09160 Human Diseases
  09161 Cancer: overview
   05202 Transcriptional misregulation in cancer
    51804 (SIX4)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03000 Transcription factors [BR:hsa03000]
    51804 (SIX4)
Transcription factors [BR:hsa03000]
 Eukaryotic type
  Helix-turn-helix
   Homeo domain SINE
    51804 (SIX4)
SSDB
Motif
Pfam: SIX1_SD Homeodomain Homeobox_KN
Other DBs
NCBI-GeneID: 51804
NCBI-ProteinID: NP_059116
OMIM: 606342
HGNC: 10890
Ensembl: ENSG00000100625
UniProt: Q9UIU6
LinkDB
Position
14:complement(60709539..60724351)
AA seq 781 aa
MSSSSPTGQIASAADIKQENGMESASEGQEAHREVAGGAAVGLSPPAPAPFPLEPGDAAT
AAARVSGEEGAVAAAAAGAAADQVQLHSELLGRHHHAAAAAAQTPLAFSPDHVACVCEAL
QQGGNLDRLARFLWSLPQSDLLRGNESLLKARALVAFHQGIYPELYSILESHSFESANHP
LLQQLWYKARYTEAERARGRPLGAVDKYRLRRKFPLPRTIWDGEETVYCFKEKSRNALKE
LYKQNRYPSPAEKRHLAKITGLSLTQVSNWFKNRRQRDRNPSETQSKSESDGNPSTEDES
SKGHEDLSPHPLSSSSDGITNLSLSSHMEPVYMQQIGNAKISLSSSGVLLNGSLVPASTS
PVFLNGNSFIQGPSGVILNGLNVGNTQAVALNPPKMSSNIVSNGISMTDILGSTSQDVKE
FKVLQSSANSATTTSYSPSVPVSFPGLIPSTEVKREGIQTVASQDGGSVVTFTTPVQINQ
YGIVQIPNSGANSQFLNGSIGFSPLQLPPVSVAASQGNISVSSSTSDGSTFTSESTTVQQ
GKVFLSSLAPSAVVYTVPNTGQTIGSVKQEGLERSLVFSQLMPVNQNAQVNANLSSENIS
GSGLHPLASSLVNVSPTHNFSLSPSTLLNPTELNRDIADSQPMSAPVASKSTVTSVSNTN
YATLQNCSLITGQDLLSVPMTQAALGEIVPTAEDQVGHPSPAVHQDFVQEHRLVLQSVAN
MKENFLSNSESKATSSLMMLDSKSKYVLDGMVDTVCEDLETDKKELAKLQTVQLDEDMQD
L
NT seq 2346 nt   +upstreamnt  +downstreamnt
atgtcctcttcctcccccaccgggcagatcgcaagtgcggcggacatcaagcaagagaat
gggatggaaagcgcctcggaagggcaggaggcgcaccgagaagtggcggggggcgcggcg
gtagggctgagccccccggctccagccccttttcccctggagccgggggacgccgcgacc
gctgccgccagggtgagcggagaggaaggggcagtggcggcggcggcggccggagcggcg
gcggatcaggtacaactccactcggaacttctgggcaggcaccaccacgccgccgccgcc
gccgcgcagaccccgctggccttctcgcccgaccacgtcgcctgcgtgtgcgaggcactg
cagcaggggggcaacctggaccgcctggcccggttcctgtggtccctgccccagagcgac
ctgctacgtggcaacgagagcctgctgaaggcgcgggcgctcgtggccttccaccagggc
atctaccccgagctctacagcatcctcgagagccacagcttcgagtcggccaaccacccg
ctgctgcagcagctctggtacaaggcgcgctacaccgaggccgagcgagcccgcggccgg
ccgctgggagccgtagacaagtaccggctgcgcaggaaattccccctgccccgcaccatc
tgggacggcgaggagacggtgtattgtttcaaggagaagtcgcgcaacgcgctcaaggag
ctctacaagcagaatcgctacccttcgcccgccgagaagcggcacctggccaagatcacc
ggcctctccctcacccaggtcagcaactggttcaagaaccgccggcagcgcgacaggaac
ccctccgagacccagtccaaaagtgagtcagatggcaaccccagcactgaagatgaatcc
agcaagggacatgaggatttatctcctcacccactctccagttcatctgatggcatcacc
aacctcagcctttccagtcatatggagccagtatatatgcaacaaattggaaatgctaag
atatcattaagctcttctggagttctgttgaatggaagcttggtacctgcaagtacttca
cctgtcttccttaatggaaattcttttattcagggacccagtggagttatccttaatgga
ttaaatgtgggaaatacacaggcagtggcattgaacccaccaaaaatgtcatcaaacatt
gtgagcaatggtatatccatgactgacatactggggtctacttcccaggacgtgaaggaa
ttcaaagtcctccagagttctgctaactcagcaaccaccacgtcctacagccccagtgtc
cctgtctcattcccaggcctgatacccagcactgaggtgaaaagagaaggcattcaaaca
gtggcttcccaagatggagggtctgtagtgacttttactacaccagtgcaaattaaccag
tatggcattgtccagatccccaattccggagcaaacagccagttccttaatgggagcatt
ggattctctccactgcagctgccccctgtgtcagtggcagcttcacaaggtaatatctca
gtaagctcaagcacttcagatggaagcacatttacaagtgagtctaccacagtccagcaa
ggaaaggttttcttgagctctcttgctcccagtgcagtggtatacacggttcctaataca
ggccagactataggatctgtgaaacaggaaggcttggaaaggagcctggtattttctcag
ttgatgcctgtcaatcagaatgcacaagtaaatgcaaacctgtcttctgaaaacatctcg
gggagtggcctgcatccactggcctcctcattagttaatgtatctccaactcacaatttt
tctctcagtccctctacactactaaatcccactgagctaaaccgcgacattgccgatagc
caaccaatgtctgcaccggtggcaagcaaatctactgtgacatctgtcagcaacactaac
tatgcaactcttcagaactgctcccttattactggtcaagacctattgtcagtccctatg
actcaggctgcccttggggaaatagttcctacagctgaagatcaggtaggtcacccctcc
ccagcagtacatcaggattttgtccaagaacatcgtttggttctgcaatcggtagctaac
atgaaagagaatttcttatcaaattctgagagcaaagcaacaagtagcttaatgatgctg
gactctaaatccaagtatgtcttagatggcatggttgatactgtctgtgaagacctggaa
acagacaaaaaagagcttgccaagctccagactgtccagctggatgaagatatgcaagac
ttatga

KEGG   Homo sapiens (human): 2138
Entry
2138              CDS       T01001                                 
Symbol
EYA1, BOP, BOR, BOS1, OFC1
Name
(RefSeq) EYA transcriptional coactivator and phosphatase 1
  KO
K15616  eyes absent homolog 1 [EC:3.1.3.48]
Organism
hsa  Homo sapiens (human)
Pathway
hsa05202  Transcriptional misregulation in cancer
Network
nt06240  Transcription (cancer)
  Element
N00120  MLL-ENL fusion to transcriptional activation
Disease
H00453  Branchio-oto-renal syndrome
H02046  OFC syndrome
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09160 Human Diseases
  09161 Cancer: overview
   05202 Transcriptional misregulation in cancer
    2138 (EYA1)
 09180 Brite Hierarchies
  09181 Protein families: metabolism
   01009 Protein phosphatases and associated proteins [BR:hsa01009]
    2138 (EYA1)
Enzymes [BR:hsa01000]
 3. Hydrolases
  3.1  Acting on ester bonds
   3.1.3  Phosphoric-monoester hydrolases
    3.1.3.48  protein-tyrosine-phosphatase
     2138 (EYA1)
Protein phosphatases and associated proteins [BR:hsa01009]
 HAD phosphatases
  EYAs
   2138 (EYA1)
SSDB
Motif
Pfam: Hydrolase
Other DBs
NCBI-GeneID: 2138
NCBI-ProteinID: NP_000494
OMIM: 601653
HGNC: 3519
Ensembl: ENSG00000104313
UniProt: Q99502 B3KXR1
LinkDB
Position
8:complement(71197433..71548094)
AA seq 592 aa
MEMQDLTSPHSRLSGSSESPSGPKLGNSHINSNSMTPNGTEVKTEPMSSSETASTTADGS
LNNFSGSAIGSSSFSPRPTHQFSPPQIYPSNRPYPHILPTPSSQTMAAYGQTQFTTGMQQ
ATAYATYPQPGQPYGISSYGALWAGIKTEGGLSQSQSPGQTGFLSYGTSFSTPQPGQAPY
SYQMQGSSFTTSSGIYTGNNSLTNSSGFNSSQQDYPSYPSFGQGQYAQYYNSSPYPAHYM
TSSNTSPTTPSTNATYQLQEPPSGITSQAVTDPTAEYSTIHSPSTPIKDSDSDRLRRGSD
GKSRGRGRRNNNPSPPPDSDLERVFIWDLDETIIVFHSLLTGSYANRYGRDPPTSVSLGL
RMEEMIFNLADTHLFFNDLEECDQVHIDDVSSDDNGQDLSTYNFGTDGFPAAATSANLCL
ATGVRGGVDWMRKLAFRYRRVKEIYNTYKNNVGGLLGPAKREAWLQLRAEIEALTDSWLT
LALKALSLIHSRTNCVNILVTTTQLIPALAKVLLYGLGIVFPIENIYSATKIGKESCFER
IIQRFGRKVVYVVIGDGVEEEQGAKKHAMPFWRISSHSDLMALHHALELEYL
NT seq 1779 nt   +upstreamnt  +downstreamnt
atggaaatgcaggatctaaccagcccgcatagccgtctgagtggtagtagtgaatccccc
agtggccccaaactcggtaactctcatataaatagtaattccatgactcccaatggcacc
gaagttaaaacagagccaatgagcagcagtgaaacagcttcaacgacagccgacgggtct
ttaaacaatttctcaggttcagcaattgggagcagtagtttcagcccacgaccaactcac
cagttctctccaccacagatttacccttccaacagaccatacccacatattctccctacc
ccttcctcacaaactatggctgcatatgggcaaacacagtttaccacaggaatgcaacaa
gctacagcctatgccacgtacccacagccaggacagccgtacggcatttcctcatatggt
gcattgtgggcaggcatcaagactgaaggtggattgtcacagtctcagtcacctggacag
acaggatttctcagctatggcacaagcttcagtacccctcaacctggacaggcaccatac
agctaccagatgcaaggtagcagttttacaacatcatcaggaatatatacaggaaataat
tcactcacaaattcctctggatttaatagttcacagcaggactatccgtcttatcccagt
tttggccagggtcagtacgcacagtattataacagctcaccgtatccagcacattatatg
accagcagcaacaccagcccaacgacaccatccaccaatgccacttaccagcttcaagaa
ccgccatctggcatcaccagccaagcagttacagatcccacagcagagtacagcacaatc
cacagcccatcaacacccattaaagattcagattctgatcgattgcgtcgaggttcagat
gggaaatcacgtggacggggccgaagaaacaataatccttcacctcccccagattctgat
cttgagagagtgttcatctgggacttggatgagacaatcattgttttccactccttgctt
actgggtcctacgccaacagatatgggagggatccacccacttcagtttcccttggactg
cgaatggaagaaatgattttcaacttggcagacacacatttattttttaatgacttagaa
gaatgtgaccaagtccatatagatgatgtttcttcagatgataacggacaggacctaagc
acatataactttggaacagatggctttcctgctgcagcaaccagtgctaacttatgtttg
gcaactggtgtacggggcggtgtggactggatgagaaagttggccttccgctacagacgg
gtaaaagagatctacaacacctacaaaaataatgttggaggtctgcttggtccagctaag
agggaagcctggctgcagttgagggccgaaattgaagccctgaccgactcctggttgaca
ctggccctgaaagcactctcgctcattcactcccggacaaactgtgtgaatattttagta
acaactactcagctcatcccagcattggcgaaagtcctgctgtatgggttaggaattgta
tttccaatagaaaatatttacagtgcaactaaaataggaaaagaaagctgttttgagaga
ataattcaaaggtttggaagaaaagtggtgtatgttgttataggagatggtgtagaagaa
gaacaaggagcaaaaaagcacgcgatgcccttctggaggatctccagccactcggacctc
atggccctgcaccatgccttggaactggagtacctgtaa

KEGG   Homo sapiens (human): 1031
Entry
1031              CDS       T01001                                 
Symbol
CDKN2C, INK4C, p18, p18-INK4C
Name
(RefSeq) cyclin dependent kinase inhibitor 2C
  KO
K06622  cyclin-dependent kinase inhibitor 2C
Organism
hsa  Homo sapiens (human)
Pathway
hsa01522  Endocrine resistance
hsa04110  Cell cycle
hsa04934  Cushing syndrome
hsa05166  Human T-cell leukemia virus 1 infection
hsa05202  Transcriptional misregulation in cancer
Network
nt06160  Human T-cell leukemia virus 1 (HTLV-1)
nt06240  Transcription (cancer)
nt06360  Cushing syndrome
  Element
N00120  MLL-ENL fusion to transcriptional activation
N00290  Mutation-inactivated MEN1 to transcription
N00511  HTLV-1 Tax to E47-mediated transcription
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09140 Cellular Processes
  09143 Cell growth and death
   04110 Cell cycle
    1031 (CDKN2C)
 09160 Human Diseases
  09161 Cancer: overview
   05202 Transcriptional misregulation in cancer
    1031 (CDKN2C)
  09172 Infectious disease: viral
   05166 Human T-cell leukemia virus 1 infection
    1031 (CDKN2C)
  09167 Endocrine and metabolic disease
   04934 Cushing syndrome
    1031 (CDKN2C)
  09176 Drug resistance: antineoplastic
   01522 Endocrine resistance
    1031 (CDKN2C)
SSDB
Motif
Pfam: Ank_4 Ank_2 Ank Ank_5 Ank_3 DUF1843
Other DBs
NCBI-GeneID: 1031
NCBI-ProteinID: NP_001253
OMIM: 603369
HGNC: 1789
Ensembl: ENSG00000123080
UniProt: P42773 Q6ICV4
Structure
LinkDB
Position
1:50968706..50974634
AA seq 168 aa
MAEPWGNELASAAARGDLEQLTSLLQNNVNVNAQNGFGRTALQVMKLGNPEIARRLLLRG
ANPDLKDRTGFAVIHDAARAGFLDTLQTLLEFQADVNIEDNEGNLPLHLAAKEGHLRVVE
FLVKHTASNVGHRNHKGDTACDLARLYGRNEVVSLMQANGAGGATNLQ
NT seq 507 nt   +upstreamnt  +downstreamnt
atggccgagccttgggggaacgagttggcgtccgcagctgccaggggggacctagagcaa
cttactagtttgttgcaaaataatgtaaacgtcaatgcacaaaatggatttggaaggact
gcgctgcaggttatgaaacttggaaatcccgagattgccaggagactgctacttagaggt
gctaatcccgatttgaaagaccgaactggtttcgctgtcattcatgatgcggccagagca
ggtttcctggacactttacagactttgctggagtttcaagctgatgttaacatcgaggat
aatgaagggaacctgcccttgcacttggctgccaaagaaggccacctccgggtggtggag
ttcctggtgaagcacacggccagcaatgtggggcatcggaaccataagggggacaccgcc
tgtgatttggccaggctctatgggaggaatgaggttgttagcctgatgcaggcaaacggg
gctgggggagccacaaatcttcaataa

KEGG   Homo sapiens (human): 3248
Entry
3248              CDS       T01001                                 
Symbol
HPGD, 15-PGDH, PGDH, PGDH1, PHOAR1, SDR36C1
Name
(RefSeq) 15-hydroxyprostaglandin dehydrogenase
  KO
K00069  15-hydroxyprostaglandin dehydrogenase (NAD) [EC:1.1.1.141]
Organism
hsa  Homo sapiens (human)
Pathway
hsa00590  Arachidonic acid metabolism
hsa05202  Transcriptional misregulation in cancer
Network
nt06240  Transcription (cancer)
  Element
N00120  MLL-ENL fusion to transcriptional activation
Disease
H00457  Primary hypertrophic osteoarthropathy
H01246  Isolated congenital nail clubbing
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09100 Metabolism
  09103 Lipid metabolism
   00590 Arachidonic acid metabolism
    3248 (HPGD)
 09160 Human Diseases
  09161 Cancer: overview
   05202 Transcriptional misregulation in cancer
    3248 (HPGD)
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   04147 Exosome [BR:hsa04147]
    3248 (HPGD)
Enzymes [BR:hsa01000]
 1. Oxidoreductases
  1.1  Acting on the CH-OH group of donors
   1.1.1  With NAD+ or NADP+ as acceptor
    1.1.1.141  15-hydroxyprostaglandin dehydrogenase (NAD+)
     3248 (HPGD)
Exosome [BR:hsa04147]
 Exosomal proteins
  Exosomal proteins of other body fluids (saliva and urine)
   3248 (HPGD)
SSDB
Motif
Pfam: adh_short adh_short_C2 KR Epimerase GDP_Man_Dehyd Lectin_leg-like 3Beta_HSD
Other DBs
NCBI-GeneID: 3248
NCBI-ProteinID: NP_000851
OMIM: 601688
HGNC: 5154
Ensembl: ENSG00000164120
UniProt: P15428
Structure
LinkDB
Position
4:complement(174490175..174522893)
AA seq 266 aa
MHVNGKVALVTGAAQGIGRAFAEALLLKGAKVALVDWNLEAGVQCKAALDEQFEPQKTLF
IQCDVADQQQLRDTFRKVVDHFGRLDILVNNAGVNNEKNWEKTLQINLVSVISGTYLGLD
YMSKQNGGEGGIIINMSSLAGLMPVAQQPVYCASKHGIVGFTRSAALAANLMNSGVRLNA
ICPGFVNTAILESIEKEENMGQYIEYKDHIKDMIKYYGILDPPLIANGLITLIEDDALNG
AIMKITTSKGIHFQDYDTTPFQAKTQ
NT seq 801 nt   +upstreamnt  +downstreamnt
atgcacgtgaacggcaaagtggcgctggtgaccggcgcggctcagggcataggcagagcc
tttgcagaggcgctgctgcttaagggcgccaaggtagcgctggtggattggaatcttgaa
gcaggtgtacagtgtaaagctgccctggatgagcagtttgaacctcagaagactctgttc
atccagtgcgatgtggctgaccagcaacaactgagagacacttttagaaaagttgtagac
cactttggaagactggacattttggtcaataatgctggagtgaataatgagaaaaactgg
gaaaaaactctgcaaattaatttggtttctgttatcagtggaacctatcttggtttggat
tacatgagtaagcaaaatggaggtgaaggcggcatcattatcaatatgtcatctttagca
ggactcatgcccgttgcacagcagccggtttattgtgcttcaaagcatggcatagttgga
ttcacacgctcagcagcgttggctgctaatcttatgaacagtggtgtgagactgaatgcc
atttgtccaggctttgttaacacagccatccttgaatcaattgaaaaagaagaaaacatg
ggacaatatatagaatataaggatcatatcaaggatatgattaaatactatggaattttg
gacccaccattgattgccaatggattgataacactcattgaagatgatgctttaaatggt
gctattatgaagatcacaacttctaagggaattcattttcaagactatgatacaactcca
tttcaagcaaaaacccaatga

KEGG   Homo sapiens (human): 2892
Entry
2892              CDS       T01001                                 
Symbol
GRIA3, GLUR-C, GLUR-K3, GLUR3, GLURC, GluA3, MRX94, MRXSW, iGluR3
Name
(RefSeq) glutamate ionotropic receptor AMPA type subunit 3
  KO
K05199  glutamate receptor 3
Organism
hsa  Homo sapiens (human)
Pathway
hsa04024  cAMP signaling pathway
hsa04080  Neuroactive ligand-receptor interaction
hsa04713  Circadian entrainment
hsa04723  Retrograde endocannabinoid signaling
hsa04724  Glutamatergic synapse
hsa04728  Dopaminergic synapse
hsa04730  Long-term depression
hsa05016  Huntington disease
hsa05017  Spinocerebellar ataxia
hsa05022  Pathways of neurodegeneration - multiple diseases
hsa05031  Amphetamine addiction
hsa05033  Nicotine addiction
hsa05202  Transcriptional misregulation in cancer
Network
nt06240  Transcription (cancer)
  Element
N00120  MLL-ENL fusion to transcriptional activation
Disease
H00658  X-linked syndromic intellectual developmental disorder
Drug target
Dasolampanel: D10107
Dasolampanel etibutil: D10108
Dasolampanel etibutil tosylate: D10109
Farampator: D04131
Mibampator: D09931
Perampanel (DG01901): D08964 D10780<JP/US>
Pesampator: D12239
Riluzole: D00775<JP/US>
Talampanel: D02696
Tezampanel: D06656
Topiramate: D00537<JP/US>
Troriluzole (DG03011): D11414 D11415
Zonampanel: D09035
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09130 Environmental Information Processing
  09132 Signal transduction
   04024 cAMP signaling pathway
    2892 (GRIA3)
  09133 Signaling molecules and interaction
   04080 Neuroactive ligand-receptor interaction
    2892 (GRIA3)
 09150 Organismal Systems
  09156 Nervous system
   04724 Glutamatergic synapse
    2892 (GRIA3)
   04728 Dopaminergic synapse
    2892 (GRIA3)
   04730 Long-term depression
    2892 (GRIA3)
   04723 Retrograde endocannabinoid signaling
    2892 (GRIA3)
  09159 Environmental adaptation
   04713 Circadian entrainment
    2892 (GRIA3)
 09160 Human Diseases
  09161 Cancer: overview
   05202 Transcriptional misregulation in cancer
    2892 (GRIA3)
  09164 Neurodegenerative disease
   05016 Huntington disease
    2892 (GRIA3)
   05017 Spinocerebellar ataxia
    2892 (GRIA3)
   05022 Pathways of neurodegeneration - multiple diseases
    2892 (GRIA3)
  09165 Substance dependence
   05031 Amphetamine addiction
    2892 (GRIA3)
   05033 Nicotine addiction
    2892 (GRIA3)
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   04040 Ion channels [BR:hsa04040]
    2892 (GRIA3)
Ion channels [BR:hsa04040]
 Ligand-gated channels
  Glutamate (ionotropic)
   2892 (GRIA3)
SSDB
Motif
Pfam: ANF_receptor Lig_chan Lig_chan-Glu_bd SBP_bac_3 NusG_add DUF2061
Other DBs
NCBI-GeneID: 2892
NCBI-ProteinID: NP_000819
OMIM: 305915
HGNC: 4573
Ensembl: ENSG00000125675
UniProt: P42263 Q17R51
LinkDB
Position
X:123184278..123490915
AA seq 894 aa
MARQKKMGQSVLRAVFFLVLGLLGHSHGGFPNTISIGGLFMRNTVQEHSAFRFAVQLYNT
NQNTTEKPFHLNYHVDHLDSSNSFSVTNAFCSQFSRGVYAIFGFYDQMSMNTLTSFCGAL
HTSFVTPSFPTDADVQFVIQMRPALKGAILSLLGHYKWEKFVYLYDTERGFSILQAIMEA
AVQNNWQVTARSVGNIKDVQEFRRIIEEMDRRQEKRYLIDCEVERINTILEQVVILGKHS
RGYHYMLANLGFTDILLERVMHGGANITGFQIVNNENPMVQQFIQRWVRLDEREFPEAKN
APLKYTSALTHDAILVIAEAFRYLRRQRVDVSRRGSAGDCLANPAVPWSQGIDIERALKM
VQVQGMTGNIQFDTYGRRTNYTIDVYEMKVSGSRKAGYWNEYERFVPFSDQQISNDSASS
ENRTIVVTTILESPYVMYKKNHEQLEGNERYEGYCVDLAYEIAKHVRIKYKLSIVGDGKY
GARDPETKIWNGMVGELVYGRADIAVAPLTITLVREEVIDFSKPFMSLGISIMIKKPQKS
KPGVFSFLDPLAYEIWMCIVFAYIGVSVVLFLVSRFSPYEWHLEDNNEEPRDPQSPPDPP
NEFGIFNSLWFSLGAFMQQGCDISPRSLSGRIVGGVWWFFTLIIISSYTANLAAFLTVER
MVSPIESAEDLAKQTEIAYGTLDSGSTKEFFRRSKIAVYEKMWSYMKSAEPSVFTKTTAD
GVARVRKSKGKFAFLLESTMNEYIEQRKPCDTMKVGGNLDSKGYGVATPKGSALRNAVNL
AVLKLNEQGLLDKLKNKWWYDKGECGSGGGDSKDKTSALSLSNVAGVFYILVGGLGLAMM
VALIEFCYKSRAESKRMKLTKNTQNFKPAPATNTQNYATYREGYNVYGTESVKI
NT seq 2685 nt   +upstreamnt  +downstreamnt
atggccaggcagaagaaaatggggcaaagcgtgctccgggcggtcttctttttagtcctg
gggcttttgggtcattctcacggaggattccccaacaccatcagcataggtggacttttc
atgagaaacacagtgcaggagcacagcgctttccgctttgccgtgcagttatacaacacc
aaccagaacaccaccgagaagcccttccatttgaattaccacgtagatcacttggattcc
tccaatagtttttccgtgacaaatgctttctgctcccagttctcgagaggggtgtatgcc
atctttggattctatgaccagatgtcaatgaacaccctgacctccttctgtggggccctg
cacacatcctttgttacgcctagcttccccactgacgcagatgtgcagtttgtcatccag
atgcgcccagccttgaagggcgctattctgagtcttctgggtcattacaagtgggagaag
tttgtgtacctctatgacacagaacgaggattttccatcctccaagcgattatggaagca
gcagtgcaaaacaactggcaagtaacagcaaggtctgtgggaaacataaaggacgtccaa
gaattcaggcgcatcattgaagaaatggacaggaggcaggaaaagcgatacttgattgac
tgcgaagtcgaaaggattaacacaattttggaacaggttgtgatcctagggaaacactca
agaggttatcactacatgctcgctaacctgggttttactgatattttactggaaagagtc
atgcatgggggagccaacattacaggtttccagattgtcaacaatgaaaaccctatggtt
cagcagttcatacagcgctgggtgaggctggatgaaagggaattccctgaagccaagaat
gcaccactaaagtatacatctgcattgacacacgacgcaatactggtcatagcagaagct
ttccgctacctgaggaggcagcgagtagatgtgtcccggagaggaagtgctggagactgc
ttagcaaatcctgctgtgccctggagtcaaggaattgatattgagagagctctgaaaatg
gtgcaagtacaaggaatgactggaaatattcaatttgacacttatggacgtaggacaaat
tataccatcgatgtgtatgaaatgaaagtcagtggctctcgaaaagctggctactggaat
gagtatgaaaggtttgtgcctttctcagatcagcaaatcagcaatgacagtgcatcctca
gagaatcggaccatagtagtgactaccattctggaatcaccatatgtaatgtacaagaag
aaccatgagcaactggaaggaaatgaacgatatgaaggctattgtgtagacctagcctat
gaaatagccaaacatgtaaggatcaaatacaaattgtccatcgttggtgacgggaaatat
ggtgcaagggatccagagactaaaatatggaacggcatggttggggaacttgtctatggg
agagctgatatagctgttgctccactcactataacattggtccgtgaagaagtcatagat
ttttcaaagccattcatgagcctgggcatctccatcatgataaagaagcctcagaaatca
aaaccaggcgtattctcatttctggatcccctggcttatgaaatctggatgtgcattgtc
tttgcttacattggagtcagcgtagttcttttcctagtcagcaggttcagtccttatgaa
tggcacttggaagacaacaatgaagaacctcgtgacccacaaagtcctcctgatcctcca
aatgaatttggaatatttaacagtctttggttttccttgggtgcctttatgcagcaagga
tgtgatatttctccaagatcactctccgggcgcattgttggaggggtttggtggttcttc
accctgatcataatttcttcctatactgccaatctcgctgctttcctgactgtggagagg
atggtttctcccatagagagtgctgaagacttagctaaacagactgaaattgcatatggg
accctggactccggttcaacaaaagaatttttcagaagatccaaaattgctgtgtacgag
aaaatgtggtcttacatgaaatcagcggagccatctgtgtttaccaaaacaacagcagac
ggagtggcccgagtgcgaaagtccaagggaaagttcgccttcctgctggagtcaaccatg
aatgagtacattgagcagagaaaaccatgtgatacgatgaaagttggtggaaatctggat
tccaaaggctatggtgtggcaacccctaaaggctcagcattaagaaatgctgttaacctg
gcagtattaaaactgaatgagcaaggcctcttggacaaattgaaaaacaaatggtggtac
gacaaaggagagtgcggcagcgggggcggtgactccaaggacaagaccagcgctctgagc
ctgagcaatgtggcaggcgttttctatatacttgtcggaggtctggggctggccatgatg
gtggctttgatagaattctgttacaaatcacgggcagagtccaaacgcatgaaactcaca
aagaacacccaaaactttaagcctgctcctgccaccaacactcagaattatgctacatac
agagaaggctacaacgtgtatggaacagagagtgttaagatctag

KEGG   Homo sapiens (human): 2530
Entry
2530              CDS       T01001                                 
Symbol
FUT8, CDGF, CDGF1
Name
(RefSeq) fucosyltransferase 8
  KO
K00717  glycoprotein 6-alpha-L-fucosyltransferase [EC:2.4.1.68]
Organism
hsa  Homo sapiens (human)
Pathway
hsa00510  N-Glycan biosynthesis
hsa00513  Various types of N-glycan biosynthesis
hsa00533  Glycosaminoglycan biosynthesis - keratan sulfate
hsa01100  Metabolic pathways
hsa05202  Transcriptional misregulation in cancer
Module
hsa_M00075  N-glycan biosynthesis, complex type
Network
nt06015  N-Glycan biosynthesis
nt06240  Transcription (cancer)
  Element
N00120  MLL-ENL fusion to transcriptional activation
N00820  N-Glycan biosynthesis
Disease
H02451  Congenital disorder of glycosylation with defective fucosylation
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09100 Metabolism
  09107 Glycan biosynthesis and metabolism
   00510 N-Glycan biosynthesis
    2530 (FUT8)
   00513 Various types of N-glycan biosynthesis
    2530 (FUT8)
   00533 Glycosaminoglycan biosynthesis - keratan sulfate
    2530 (FUT8)
 09160 Human Diseases
  09161 Cancer: overview
   05202 Transcriptional misregulation in cancer
    2530 (FUT8)
 09180 Brite Hierarchies
  09181 Protein families: metabolism
   01003 Glycosyltransferases [BR:hsa01003]
    2530 (FUT8)
Enzymes [BR:hsa01000]
 2. Transferases
  2.4  Glycosyltransferases
   2.4.1  Hexosyltransferases
    2.4.1.68  glycoprotein 6-alpha-L-fucosyltransferase
     2530 (FUT8)
Glycosyltransferases [BR:hsa01003]
 Glycan extension
  N-Glycan
   2530 (FUT8)
SSDB
Motif
Pfam: FUT8_N_cat SH3_9 SH3_1 NodZ Wtap SKI
Other DBs
NCBI-GeneID: 2530
NCBI-ProteinID: NP_835368
OMIM: 602589
HGNC: 4019
Ensembl: ENSG00000033170
UniProt: Q9BYC5 Q546E0 A8K8P8
Structure
LinkDB
Position
14:65356842..65744121
AA seq 575 aa
MRPWTGSWRWIMLILFAWGTLLFYIGGHLVRDNDHPDHSSRELSKILAKLERLKQQNEDL
RRMAESLRIPEGPIDQGPAIGRVRVLEEQLVKAKEQIENYKKQTRNGLGKDHEILRRRIE
NGAKELWFFLQSELKKLKNLEGNELQRHADEFLLDLGHHERSIMTDLYYLSQTDGAGDWR
EKEAKDLTELVQRRITYLQNPKDCSKAKKLVCNINKGCGYGCQLHHVVYCFMIAYGTQRT
LILESQNWRYATGGWETVFRPVSETCTDRSGISTGHWSGEVKDKNVQVVELPIVDSLHPR
PPYLPLAVPEDLADRLVRVHGDPAVWWVSQFVKYLIRPQPWLEKEIEEATKKLGFKHPVI
GVHVRRTDKVGTEAAFHPIEEYMVHVEEHFQLLARRMQVDKKRVYLATDDPSLLKEAKTK
YPNYEFISDNSISWSAGLHNRYTENSLRGVILDIHFLSQADFLVCTFSSQVCRVAYEIMQ
TLHPDASANFHSLDDIYYFGGQNAHNQIAIYAHQPRTADEIPMEPGDIIGVAGNHWDGYS
KGVNRKLGRTGLYPSYKVREKIETVKYPTYPEAEK
NT seq 1728 nt   +upstreamnt  +downstreamnt
atgcggccatggactggttcctggcgttggattatgctcattctttttgcctgggggacc
ttgctgttttatataggtggtcacttggtacgagataatgaccatcctgatcactctagc
cgagaactgtccaagattctggcaaagcttgaacgcttaaaacaacagaatgaagacttg
aggcgaatggccgaatctctccggataccagaaggccctattgatcaggggccagctata
ggaagagtacgcgttttagaagagcagcttgttaaggccaaagaacagattgaaaattac
aagaaacagaccagaaatggtctggggaaggatcatgaaatcctgaggaggaggattgaa
aatggagctaaagagctctggtttttcctacagagtgaattgaagaaattaaagaactta
gaaggaaatgaactccaaagacatgcagatgaatttcttttggatttaggacatcatgaa
aggtctataatgacggatctatactacctcagtcagacagatggagcaggtgattggcgg
gaaaaagaggccaaagatctgacagaactggttcagcggagaataacatatcttcagaat
cccaaggactgcagcaaagccaaaaagctggtgtgtaatatcaacaaaggctgtggctat
ggctgtcagctccatcatgtggtctactgcttcatgattgcatatggcacccagcgaaca
ctcatcttggaatctcagaattggcgctatgctactggtggatgggagactgtatttagg
cctgtaagtgagacatgcacagacagatctggcatctccactggacactggtcaggtgaa
gtgaaggacaaaaatgttcaagtggtcgagcttcccattgtagacagtcttcatccccgt
cctccatatttacccttggctgtaccagaagacctcgcagatcgacttgtacgagtgcat
ggtgaccctgcagtgtggtgggtgtctcagtttgtcaaatacttgatccgcccacagcct
tggctagaaaaagaaatagaagaagccaccaagaagcttggcttcaaacatccagttatt
ggagtccatgtcagacgcacagacaaagtgggaacagaagctgccttccatcccattgaa
gagtacatggtgcatgttgaagaacattttcagcttcttgcacgcagaatgcaagtggac
aaaaaaagagtgtatttggccacagatgacccttctttattaaaggaggcaaaaacaaag
taccccaattatgaatttattagtgataactctatttcctggtcagctggactgcacaat
cgatacacagaaaattcacttcgtggagtgatcctggatatacattttctctctcaggca
gacttcctagtgtgtactttttcatcccaggtctgtcgagttgcttatgaaattatgcaa
acactacatcctgatgcctctgcaaacttccattctttagatgacatctactattttggg
ggccagaatgcccacaatcaaattgccatttatgctcaccaaccccgaactgcagatgaa
attcccatggaacctggagatatcattggtgtggctggaaatcattgggatggctattct
aaaggtgtcaacaggaaattgggaaggacgggcctatatccctcctacaaagttcgagag
aagatagaaacggtcaagtaccccacatatcctgaggctgagaaataa

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