InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: MMAA

Summary

InnateDB Protein

IDBP-39994.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

MMAA

Protein Name

methylmalonic aciduria (cobalamin deficiency) cblA type

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000281317

InnateDB Gene

IDBG-39992 (MMAA)

Protein Structure

UniProt Annotation

Function

Probable GTPase. May function as chaperone. May be involved in the transport of cobalamin (Cbl) into mitochondria for the final steps of adenosylcobalamin (AdoCbl) synthesis.

Subcellular Localization

Mitochondrion {ECO:0000305}.

Disease Associations

Methylmalonic aciduria type cblA (MMAA) [MIM:251100]: A disorder of methylmalonate and cobalamin metabolism due to defective synthesis of adenosylcobalamin. {ECO:0000269PubMed:12438653, ECO:0000269PubMed:15308131, ECO:0000269PubMed:15523652}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Widely expressed. Highest expression is observed in liver and skeletal muscle.

Comments

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