Version 5.4
Homo sapiens Gene: MMAB
Summary
InnateDB Gene IDBG-56263.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol MMAB
Gene Name methylmalonic aciduria (cobalamin deficiency) cblB type
Synonyms
Species Homo sapiens
Ensembl Gene ENSG00000139428
Encoded Proteins
IDBP-376633
methylmalonic aciduria (cobalamin deficiency) cblB type
IDBP-812260
methylmalonic aciduria (cobalamin deficiency) cblB type
IDBP-594185
methylmalonic aciduria (cobalamin deficiency) cblB type
IDBP-812250
methylmalonic aciduria (cobalamin deficiency) cblB type
IDBP-585880
methylmalonic aciduria (cobalamin deficiency) cblB type
IDBP-588725
methylmalonic aciduria (cobalamin deficiency) cblB type
IDBP-812257
methylmalonic aciduria (cobalamin deficiency) cblB type
IDBP-812261
methylmalonic aciduria (cobalamin deficiency) cblB type
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene encodes a protein that catalyzes the final step in the conversion of vitamin B(12) into adenosylcobalamin (AdoCbl), a vitamin B12-containing coenzyme for methylmalonyl-CoA mutase. Mutations in the gene are the cause of vitamin B12-dependent methylmalonic aciduria linked to the cblB complementation group. Alternatively spliced transcript variants have been found. [provided by RefSeq, Apr 2011]
Gene Information
Type Protein coding
Genomic Location Chromosome 12:109553737-109573874
Strand Reverse strand
Band q24.11
Transcripts
ENST00000420167 ENSP00000416136
ENST00000503497 ENSP00000474881
ENST00000545712 ENSP00000445920
ENST00000540016 ENSP00000474582
ENST00000537496 ENSP00000444793
ENST00000544051 ENSP00000438079
ENST00000541763 ENSP00000474981
ENST00000542390
ENST00000536760
ENST00000537236 ENSP00000483818
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 3 experimentally validated interaction(s) in this database.
Experimentally validated
Total 3 [view]
Protein-Protein 3 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0005524 ATP binding
GO:0008817 cob(I)yrinic acid a,c-diamide adenosyltransferase activity
Biological Process
GO:0006766 vitamin metabolic process
GO:0006767 water-soluble vitamin metabolic process
GO:0009235 cobalamin metabolic process
GO:0009236 cobalamin biosynthetic process
GO:0044281 small molecule metabolic process
Cellular Component
GO:0005739 mitochondrion
GO:0005759 mitochondrial matrix
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000029575
View Gene Order
ENSBTAG00000005178
Not yet available
Pathways
NETPATH
REACTOME
REACT_169312
Defective HLCS causes multiple carboxylase deficiency pathway
REACT_169313
Defective MUT causes methylmalonic aciduria mut type pathway
REACT_169316
Defective MMAA causes methylmalonic aciduria type cblA pathway
REACT_169120
Defective TCN2 causes hereditary megaloblastic anemia pathway
REACT_11238
Metabolism of water-soluble vitamins and cofactors pathway
REACT_169280
Defective AMN causes hereditary megaloblastic anemia 1 pathway
REACT_169149
Defective MTR causes methylmalonic aciduria and homocystinuria type cblG pathway
REACT_169363
Defective LMBRD1 causes methylmalonic aciduria and homocystinuria type cblF pathway
REACT_169178
Defective CD320 causes methylmalonic aciduria pathway
REACT_169429
Defects in cobalamin (B12) metabolism pathway
REACT_163862
Cobalamin (Cbl, vitamin B12) transport and metabolism pathway
REACT_169169
Defective MMACHC causes methylmalonic aciduria and homocystinuria type cblC pathway
REACT_169238
Defects in biotin (Btn) metabolism pathway
REACT_169403
Defective BTD causes biotidinase deficiency pathway
REACT_169415
Defective GIF causes intrinsic factor deficiency pathway
REACT_169385
Defects in vitamin and cofactor metabolism pathway
REACT_169132
Defective CUBN causes hereditary megaloblastic anemia 1 pathway
REACT_169256
Defective MMADHC causes methylmalonic aciduria and homocystinuria type cblD pathway
REACT_169439
Defective MTRR causes methylmalonic aciduria and homocystinuria type cblE pathway
REACT_111217
Metabolism pathway
REACT_169318
Defective MMAB causes methylmalonic aciduria type cblB pathway
REACT_116125
Disease pathway
REACT_11193
Metabolism of vitamins and cofactors pathway
KEGG
hsa00860
Porphyrin and chlorophyll metabolism pathway
INOH
PID NCI
Cross-References
SwissProt Q96EY8
TrEMBL F5H4Z7
UniProt Splice Variant
Entrez Gene 326625
UniGene
RefSeq NM_052845
HUGO HGNC:19331
OMIM 607568
CCDS CCDS9131
HPRD 07398
IMGT
EMBL AC007570 AF550396 AF550397 AF550398 AF550399 AF550400 AF550401 AF550402 AF550403 AF550404 BC005054 BC011831 FJ515859
GenPept AAH05054 AAH11831 AAN85091 ACS13749
RNA Seq Atlas 326625

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca