Version 5.4
Homo sapiens Protein: MMAB
Summary
InnateDB Protein IDBP-594185.3
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol MMAB
Protein Name methylmalonic aciduria (cobalamin deficiency) cblB type
Synonyms
Species Homo sapiens
Ensembl Protein ENSP00000445920
InnateDB Gene IDBG-56263 (MMAB)
Protein Structure
UniProt Annotation
Function
Subcellular Localization Mitochondrion {ECO:0000305}.
Disease Associations Methylmalonic aciduria type cblB (MMAB) [MIM:251110]: A disorder of methylmalonate and cobalamin metabolism due to defective synthesis of adenosylcobalamin. {ECO:0000269PubMed:12471062, ECO:0000269PubMed:15781192}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Tissue Specificity Expressed in liver and skeletal muscle.
Comments
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
Protein Structure and Domains
PDB ID
InterPro IPR016030 Adenosylcobalamin biosynthesis, ATP:cob(I)alamin adenosyltransferase-like
IPR029499 ATP:cob(I)alamin adenosyltransferase, PduO-type
PFAM PF01923
PRINTS
PIRSF
SMART
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q96EY8
PhosphoSite PhosphoSite-Q96EY8
TrEMBL F5H4Z7
UniProt Splice Variant
Entrez Gene 326625
UniGene
RefSeq NP_443077
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

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