KEGG   Homo sapiens (human): 25974
Entry
25974             CDS       T01001                                 
Symbol
MMACHC, cblC
Name
(RefSeq) metabolism of cobalamin associated C
  KO
K14618  cyanocobalamin reductase (cyanide-eliminating) / alkylcobalamin dealkylase [EC:1.16.1.6 2.5.1.151]
Organism
hsa  Homo sapiens (human)
Pathway
hsa04977  Vitamin digestion and absorption
hsa04980  Cobalamin transport and metabolism
Network
nt06538  Cobalamin transport and metabolism
  Element
N01808  Intracellular processing of cobalamin (reduction)
N01809  Mutation-caused epigenetic silencing of MMACHC
N01810  Regulation of MMACHC expression
Disease
H00174  Methylmalonic aciduria
H02221  Methylmalonic aciduria and homocystinuria
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09150 Organismal Systems
  09154 Digestive system
   04977 Vitamin digestion and absorption
    25974 (MMACHC)
   04980 Cobalamin transport and metabolism
    25974 (MMACHC)
Enzymes [BR:hsa01000]
 1. Oxidoreductases
  1.16  Oxidizing metal ions
   1.16.1  With NAD+ or NADP+ as acceptor
    1.16.1.6  cyanocobalamin reductase
     25974 (MMACHC)
 2. Transferases
  2.5  Transferring alkyl or aryl groups, other than methyl groups
   2.5.1  Transferring alkyl or aryl groups, other than methyl groups (only sub-subclass identified to date)
    2.5.1.151  alkylcobalamin dealkylase
     25974 (MMACHC)
SSDB
Motif
Pfam: MMACHC
Other DBs
NCBI-GeneID: 25974
NCBI-ProteinID: NP_056321
OMIM: 609831
HGNC: 24525
Ensembl: ENSG00000132763
UniProt: Q9Y4U1
Structure
LinkDB
Position
1:45500300..45513382
AA seq 282 aa
MEPKVAELKQKIEDTLCPFGFEVYPFQVAWYNELLPPAFHLPLPGPTLAFLVLSTPAMFD
RALKPFLQSCHLRMLTDPVDQCVAYHLGRVRESLPELQIEIIADYEVHPNRRPKILAQTA
AHVAGAAYYYQRQDVEADPWGNQRISGVCIHPRFGGWFAIRGVVLLPGIEVPDLPPRKPH
DCVPTRADRIALLEGFNFHWRDWTYRDAVTPQERYSEEQKAYFSTPPAQRLALLGLAQPS
EKPSSPSPDLPFTTPAPKKPGNPSRARSWLSPRVSPPASPGP
NT seq 849 nt   +upstreamnt  +downstreamnt
atggagccgaaagtcgcagagctgaagcagaagatcgaggacacgctatgtccttttggc
ttcgaggtttaccccttccaggtggcatggtacaatgaactcttgcctccagccttccac
ctaccgctgccaggacctaccctggccttcctggtactcagcacgcctgccatgtttgac
cgggccctcaagcccttcttgcagagctgccacctccgaatgctgactgacccagtggac
cagtgtgtggcctaccatctgggccgtgttagagagagcctcccagagctgcagatagaa
atcattgctgactacgaggtgcaccccaaccgacgccccaagatcctggcccagacagca
gcccatgtagctggggctgcttactactaccaacgacaagatgtggaggctgacccatgg
gggaaccagcgcatatcaggtgtgtgcatacacccccgatttgggggctggtttgccatc
cgaggggtagtgctgctgccagggatagaggtgccagatctgccacccagaaaacctcat
gactgtgtacctacaagagctgaccgtatcgccctactcgaaggcttcaatttccactgg
cgtgattggacttaccgggatgctgtgacaccccaggagcgctactcagaagagcagaag
gcctacttctccactccacctgcccaacgattggccctattgggcttggctcagccctca
gagaagcctagttctccctccccggaccttccctttaccacacccgcccccaagaagcct
gggaatcccagcagagcccggagctggctcagccccagggtctcaccacctgcatcccct
ggcccttga

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