Version 5.4
Homo sapiens Gene: MMAA
Summary
InnateDB Gene IDBG-39992.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol MMAA
Gene Name methylmalonic aciduria (cobalamin deficiency) cblA type
Synonyms
Species Homo sapiens
Ensembl Gene ENSG00000151611
Encoded Proteins
IDBP-39994
methylmalonic aciduria (cobalamin deficiency) cblA type
IDBP-479041
methylmalonic aciduria (cobalamin deficiency) cblA type
IDBP-602139
methylmalonic aciduria (cobalamin deficiency) cblA type
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary The protein encoded by this gene is involved in the translocation of cobalamin into the mitochondrion, where it is used in the final steps of adenosylcobalamin synthesis. Adenosylcobalamin is a coenzyme required for the activity of methylmalonyl-CoA mutase. Defects in this gene are a cause of methylmalonic aciduria. [provided by RefSeq, Jul 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome 4:145618263-145660035
Strand Forward strand
Band q31.21
Transcripts
ENST00000281317 ENSP00000281317
ENST00000506919
ENST00000511969 ENSP00000427422
ENST00000503730
ENST00000541599 ENSP00000442284
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 4 experimentally validated interaction(s) in this database.
Experimentally validated
Total 4 [view]
Protein-Protein 4 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0005525 GTP binding
GO:0017111 nucleoside-triphosphatase activity
Biological Process
GO:0006635 fatty acid beta-oxidation
GO:0006766 vitamin metabolic process
GO:0006767 water-soluble vitamin metabolic process
GO:0009235 cobalamin metabolic process
GO:0009236 cobalamin biosynthetic process
GO:0019626 short-chain fatty acid catabolic process
GO:0044255 cellular lipid metabolic process
GO:0044281 small molecule metabolic process
Cellular Component
GO:0005759 mitochondrial matrix
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000037022
View Gene Order
ENSBTAG00000012800
Not yet available
Pathways
NETPATH
REACTOME
REACT_993
Propionyl-CoA catabolism pathway
REACT_22279
Fatty acid, triacylglycerol, and ketone body metabolism pathway
REACT_22258
Metabolism of lipids and lipoproteins pathway
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_1473
Mitochondrial Fatty Acid Beta-Oxidation 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
INOH
PID NCI
Cross-References
SwissProt
TrEMBL Q495G5
UniProt Splice Variant
Entrez Gene 166785
UniGene Hs.452864 Hs.599597
RefSeq NM_172250 XM_006714118
HUGO HGNC:18871
OMIM 607481
CCDS CCDS3766
HPRD 07394
IMGT
EMBL BC101181
GenPept AAI01182
RNA Seq Atlas 166785

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