KEGG   Homo sapiens (human): 326625Help
Entry
326625            CDS       T01001                                 

Gene name
MMAB, ATR, cblB, cob
Definition
methylmalonic aciduria (cobalamin deficiency) cblB type (EC:2.5.1.17)
Orthology
K00798  
cob(I)alamin adenosyltransferase [EC:2.5.1.17]
Organism
hsa  Homo sapiens (human)
Pathway
Porphyrin and chlorophyll metabolism
Metabolic pathways
Disease
H00174  
Methylmalonic aciduria (MMA)
Brite
KEGG Orthology (KO) [BR:hsa00001]
 Metabolism
  Metabolism of cofactors and vitamins
   00860 Porphyrin and chlorophyll metabolism
    326625 (MMAB)
Enzymes [BR:hsa01000]
 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)
    2.5.1.17  cob(I)yrinic acid a,c-diamide adenosyltransferase
     326625 (MMAB)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif Motif
Other DBs
NCBI-GI: 
NCBI-GeneID: 
OMIM: 
HGNC: 
HPRD: 
Ensembl: 
Vega: 
UniProt: 
Structure
PDB: 

Jmol
Position
12q24
AA seq 250 aa AA seqDB search
MAVCGLGSRLGLGSRLGLRGCFGAARLLYPRFQSRGPQGVEDGDRPQPSSKTPRIPKIYT
KTGDKGFSSTFTGERRPKDDQVFEAVGTTDELSSAIGFALELVTEKGHTFAEELQKIQCT
LQDVGSALATPCSSAREAHLKYTTFKAGPILELEQWIDKYTSQLPPLTAFILPSGGKISS
ALHFCRAVCRRAERRVVPLVQMGETDANVAKFLNRLSDYLFTLARYAAMKEGNQEKIYMK
NDPSAESEGL
NT seq 753 nt NT seq  +upstreamnt  +downstreamnt
atggctgtgtgcggcctggggagccgtcttggcctggggagccgtcttggcctgcgcggg
tgcttcggcgccgccaggctcctgtatccccgtttccagagccgcggccctcagggcgtg
gaagacggggacaggccacagccttcctcgaagacacccaggatccccaagatttacacc
aaaacgggagacaaagggttttctagtaccttcacaggagaaaggagacccaaagatgac
caagtgtttgaagccgtgggaactacagatgaattaagttcagctattgggtttgctctg
gaattagtcacagaaaagggccatacatttgccgaagagcttcagaaaatccagtgcaca
ttgcaggacgtcggctcggccctggcgacaccatgctcctcggcccgggaggctcactta
aagtataccacgttcaaggcggggcccatcctggagctggagcagtggatcgacaagtac
accagccagctcccaccactcacggccttcatcctgccttcgggaggcaagatcagctcg
gcgctgcatttctgccgggccgtgtgccgccgggccgagagacgtgtggtgcctcttgtc
cagatgggagagaccgatgcgaacgtggccaagttcttaaacagactcagtgactatctc
ttcacgctagccagatatgcagccatgaaggaggggaatcaagagaaaatatacatgaaa
aatgacccatcggccgagtctgagggactctga

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