KEGG   Homo sapiens (human): 25974Help
Entry
25974             CDS       T01001                                 

Gene name
MMACHC, cblC
Definition
(RefSeq) methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria
  KO
K14618  methylmalonic aciduria homocystinuria type C protein
Organism
hsa  Homo sapiens (human)
Pathway
hsa04977  Vitamin digestion and absorption
Disease
H00174  Methylmalonic aciduria (MMA)
Brite
KEGG Orthology (KO) [BR:hsa00001]
 Organismal Systems
  Digestive system
   04977 Vitamin digestion and absorption
    25974 (MMACHC)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: MMACHC
Motif
Other DBs
NCBI-GeneID: 25974
NCBI-ProteinID: NP_056321
OMIM: 609831
HGNC: 24525
Ensembl: ENSG00000132763
Vega: OTTHUMG00000007742
Pharos: Q9Y4U1(Tbio)
UniProt: Q9Y4U1
Structure
PDB: 

Jmol
Position
1p34.1
AA seq 282 aa AA seqDB search
MEPKVAELKQKIEDTLCPFGFEVYPFQVAWYNELLPPAFHLPLPGPTLAFLVLSTPAMFD
RALKPFLQSCHLRMLTDPVDQCVAYHLGRVRESLPELQIEIIADYEVHPNRRPKILAQTA
AHVAGAAYYYQRQDVEADPWGNQRISGVCIHPRFGGWFAIRGVVLLPGIEVPDLPPRKPH
DCVPTRADRIALLEGFNFHWRDWTYRDAVTPQERYSEEQKAYFSTPPAQRLALLGLAQPS
EKPSSPSPDLPFTTPAPKKPGNPSRARSWLSPRVSPPASPGP
NT seq 849 nt NT seq  +upstreamnt  +downstreamnt
atggagccgaaagtcgcagagctgaagcagaagatcgaggacacgctatgtccttttggc
ttcgaggtttaccccttccaggtggcatggtacaatgaactcttgcctccagccttccac
ctaccgctgccaggacctaccctggccttcctggtactcagcacgcctgccatgtttgac
cgggccctcaagcccttcttgcagagctgccacctccgaatgctgactgacccagtggac
cagtgtgtggcctaccatctgggccgtgttagagagagcctcccagagctgcagatagaa
atcattgctgactacgaggtgcaccccaaccgacgccccaagatcctggcccagacagca
gcccatgtagctggggctgcttactactaccaacgacaagatgtggaggctgacccatgg
gggaaccagcgcatatcaggtgtgtgcatacacccccgatttgggggctggtttgccatc
cgaggggtagtgctgctgccagggatagaggtgccagatctgccacccagaaaacctcat
gactgtgtacctacaagagctgaccgtatcgccctactcgaaggcttcaatttccactgg
cgtgattggacttaccgggatgctgtgacaccccaggagcgctactcagaagagcagaag
gcctacttctccactccacctgcccaacgattggccctattgggcttggctcagccctca
gagaagcctagttctccctccccggaccttccctttaccacacccgcccccaagaagcct
gggaatcccagcagagcccggagctggctcagccccagggtctcaccacctgcatcccct
ggcccttga

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