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Tbio
MMAA
Methylmalonic aciduria type A protein, mitochondrial

Protein Summary
Description
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 (MUT) and reactivation of the enzyme during catalysis (PubMed:28497574, PubMed:20876572). 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]
Uniprot Accession IDs
Gene Name
Ensembl ID
  • ENST00000281317
  • ENSP00000281317
  • ENSG00000151611
  • ENST00000648388
  • ENSP00000497046
  • ENST00000649156
  • ENSP00000497008
  • ENST00000649704
  • ENSP00000497680

Symbol
  • cblA
Illumination Graph
Knowledge Table
Most Knowledge About
Knowledge Value (0 to 1 scale)
histone modification site profile
0.92
transcription factor binding site profile
0.86
pathway
0.85
molecular function
0.79
virus perturbation
0.79


IDG Development Level Summary
Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 183.83   (req: < 5)
Gene RIFs: 11   (req: <= 3)
Antibodies: 138   (req: <= 50)
Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 183.83   (req: >= 5)
Gene RIFs: 11   (req: > 3)
Antibodies: 138   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 6
Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 0
Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0
Protein Data Bank (1)
1 – 1 of 1
PDB Structure Id
Ligand
Method
Resolution (Å)
M.W. (kDa)
Pub Year
Title
PDB Structure Id
M.W.
Resolution
Pub Year
Pathways (16)
Cobalamin (Cbl, vitamin B12) transport and metabolism (R-HSA-196741)

Click on a row in the table to change the structure displayed.

Items per page:
1 – 5 of 14
Data Source
Name
Explore in Pharos
Explore in Source
Reactome
Cobalamin (Cbl, vitamin B12) transport and metabolism
Reactome
Defective MMAA causes methylmalonic aciduria type cblA
Reactome
Defective MUT causes methylmalonic aciduria mut type
Reactome
Defects in cobalamin (B12) metabolism
Reactome
Defects in vitamin and cofactor metabolism
Name
Explore in Pharos
Explore in Source
Cobalamin (Cbl, vitamin B12) transport and metabolism
Defective MMAA causes methylmalonic aciduria type cblA
Defective MUT causes methylmalonic aciduria mut type
Defects in cobalamin (B12) metabolism
Defects in vitamin and cofactor metabolism
Protein-Protein Interactions (28)
1 – 10 of 28
MUT
Tbio
Family: Enzyme
Novelty: 0.00172221
Score: 0.998
Data Source: Reactome,STRINGDB
MMAB
Tbio
Family: Enzyme
Novelty: 0.01573568
Score: 0.969
Data Source: STRINGDB
MMADHC
Tbio
Novelty: 0.03382644
Score: 0.94
Data Source: STRINGDB
MCEE
Tbio
Family: Enzyme
Novelty: 0.07926976
Score: 0.88
Data Source: STRINGDB
MMACHC
Tbio
Novelty: 0.01333275
Score: 0.864
Data Source: STRINGDB
MTRR
Tbio
Family: Enzyme
Novelty: 0.00281033
Score: 0.84
Data Source: STRINGDB
LMBRD1
Tbio
Novelty: 0.00701187
Score: 0.837
Data Source: STRINGDB
PCCB
Tbio
Family: Enzyme
Novelty: 0.01510921
Score: 0.809
Data Source: STRINGDB
MMD
Tbio
Novelty: 0.0002942
Score: 0.803
Data Source: STRINGDB
MTR
Tbio
Family: Enzyme
Novelty: 0.00105146
Score: 0.743
Data Source: STRINGDB
Publication Statistics
PubMed Score  183.83

PubMed score by year
PubTator Score  60.26

PubTator score by year
Amino Acid Sequence
Residue Counts
Protein Sequence
ProtVista Viewer