Molecular Target Synopsis
Overview
Domains and Structures
Drugs and Clinical Candidates
Druggability
Chemistry
Ligand Efficiency Plot
Pathways
Family Cladogram
Interaction Network
Gene Expression
Gene Copy Number Variation
RNAi
Mutations
Germline Genetics

MMAA (Q8IVH4) - Overview - Molecular Target Synopsis

Protein


MMAA, Methylmalonic aciduria type A protein, mitochondrial
Enzyme Classification 3.6.-.-
UniProt Q8IVH4

Also Known as MMAA_HUMAN, MMAA

GTPase, binds and hydrolyzes GTP (PubMed:28497574, PubMed:20876572). Involved in intracellular vitamin B12 metabolism, mediates the transport of cobalamin (Cbl) into mitochondria for the final steps of adenosylcobalamin (AdoCbl) synthesis. Functions as a G-protein chaperone that assists AdoCbl cofactor delivery from MMAB to the methylmalonyl-CoA mutase (MMUT) and reactivation of the enzyme during catalysis (PubMed:28497574, PubMed:20876572). Homodimer (PubMed:20876572). Interacts with MMUT (the apoenzyme form); the interaction is GTP dependent (PubMed:20876572, PubMed:28497574).

2WWW
CRYSTAL STRUCTURE OF METHYLMALONIC ACIDEMIA TYPE A PROTEIN
RCSB/PDB
Inspect Structure
See all 3D Structures for MMAA

Isoforms / Transcripts (Protein Coding)


Sub-cellular localization


UniProt: MMAA is active in the following subcellular-locations: mitochondrion.
GO terms: MMAA is active in the following subcellular-locations: mitochondrial matrix.



UniProt
GO terms

Gene Copy Number Variation


In COSMIC - Cell Lines Project MMAA has gain in 0 cell-lines, loss in 3 cell-lines and no signal in 1002 cell-lines. (see details)

Gene Expression


In NCI60, the highest expressing cell lines are: COLO205, HCC_2998, TK_10

In Array Express (RNA-seq of 675 commonly used human cancer cell lines), the highest expressing cell lines are: Pfeiffer, COR-L26, NCI-H1581

In Array Express (RNA-seq of long poly adenylated RNA and long non poly adenylated RNA from ENCODE cell lines), the highest expressing cell lines are: SK-N-SH, HSMM, NHLF

(see details)

3D Structures


For MMAA there are:
1 structures (4 chains) solved
1 are solved in complex with at least one small molecule ligand



(see details)
Molecular Target 3D Synopsis