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

Gene name
MMAB, ATR, CFAP23, cblB, cob
Definition
(RefSeq) metabolism of cobalamin associated B
  KO
K00798  cob(I)alamin adenosyltransferase [EC:2.5.1.17]
Organism
hsa  Homo sapiens (human)
Pathway
hsa00860  Porphyrin and chlorophyll metabolism
hsa01100  Metabolic pathways
Disease
H00174  Methylmalonic aciduria
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09100 Metabolism
  09108 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  corrinoid adenosyltransferase
     326625 (MMAB)
SSDB
Motif
Pfam: Cob_adeno_trans
Other DBs
NCBI-GeneID: 326625
NCBI-ProteinID: NP_443077
OMIM: 607568
HGNC: 19331
Ensembl: ENSG00000139428
Vega: OTTHUMG00000169255
Pharos: Q96EY8(Tbio)
UniProt: Q96EY8
Structure
PDB: 
6D5X 2IDX 6D5K

Position
12q24.11
AA seq 250 aa
MAVCGLGSRLGLGSRLGLRGCFGAARLLYPRFQSRGPQGVEDGDRPQPSSKTPRIPKIYT
KTGDKGFSSTFTGERRPKDDQVFEAVGTTDELSSAIGFALELVTEKGHTFAEELQKIQCT
LQDVGSALATPCSSAREAHLKYTTFKAGPILELEQWIDKYTSQLPPLTAFILPSGGKISS
ALHFCRAVCRRAERRVVPLVQMGETDANVAKFLNRLSDYLFTLARYAAMKEGNQEKIYMK
NDPSAESEGL
NT seq 753 nt   +upstreamnt  +downstreamnt
atggctgtgtgcggcctggggagccgtcttggcctggggagccgtcttggcctgcgcggg
tgcttcggcgccgccaggctcctgtatccccgtttccagagccgcggccctcagggcgtg
gaagacggggacaggccacagccttcctcgaagacacccaggatccccaagatttacacc
aaaacgggagacaaagggttttctagtaccttcacaggagaaaggagacccaaagatgac
caagtgtttgaagccgtgggaactacagatgaattaagttcagctattgggtttgctctg
gaattagtcacagaaaagggccatacatttgccgaagagcttcagaaaatccagtgcaca
ttgcaggacgtcggctcggccctggcgacaccatgctcctcggcccgggaggctcactta
aagtataccacgttcaaggcggggcccatcctggagctggagcagtggatcgacaagtac
accagccagctcccaccactcacggccttcatcctgccttcgggaggcaagatcagctcg
gcgctgcatttctgccgggccgtgtgccgccgggccgagagacgtgtggtgcctcttgtc
cagatgggagagaccgatgcgaacgtggccaagttcttaaacagactcagtgactatctc
ttcacgctagccagatatgcagccatgaaggaggggaatcaagagaaaatatacatgaaa
aatgacccatcggccgagtctgagggactctga

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