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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


Protein Classes
No PANTHER Classes or DTO Classes found
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: 110.28   (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: 110.28   (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 Sequence and Structure
Residue Counts
Protein Sequence
ProtVista Viewer
Expression Data (0 Tissues)
No expression data found
Related Tools
Target Illumination GWAS Analytics (TIGA)
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TIGA scores and ranks GWAS discovered associations according to the quantity and quality of the evidence supporting the association.
GENEVA
Thumbnail image for GENEVA
GENEVA (GENe Expression Variance Analysis) allows you to identify RNA-sequencing datasets from the Gene Expression Omnibus (GEO) that contain conditions modulating a gene or a gene signature.
GlyGen
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GlyGen is a data integration and dissemination project for carbohydrate and glycoconjugate related data.
ARCHS4
Thumbnail image for ARCHS4
ARCHS4 provides access to gene-function predictions based on RNA-seq co-expression, and gene expression levels across cell and tissues.
Approved Drugs (0)
No approved drugs found
Active Ligands (0)
No active ligands found
Protein-Protein Interactions (28)
MUT
Tbio
Family:  Enzyme
Novelty:  0.00074807
Score:  0.998
Data Source:  Reactome,STRINGDB
MMAB
Tbio
Family:  Enzyme
Novelty:  0.01681296
Score:  0.969
Data Source:  STRINGDB
MMADHC
Tbio
Novelty:  0.02299238
Score:  0.94
Data Source:  STRINGDB
MCEE
Tbio
Family:  Enzyme
Novelty:  0.03190645
Score:  0.88
Data Source:  STRINGDB
MMACHC
Tbio
Novelty:  0.00896291
Score:  0.864
Data Source:  STRINGDB
MTRR
Tbio
Family:  Enzyme
Novelty:  0.00231914
Score:  0.84
Data Source:  STRINGDB
LMBRD1
Tbio
Novelty:  0.02503332
Score:  0.837
Data Source:  STRINGDB
PCCB
Tbio
Family:  Enzyme
Novelty:  0.01085161
Score:  0.809
Data Source:  STRINGDB
MMD
Tbio
Novelty:  0.02646322
Score:  0.803
Data Source:  STRINGDB
MTR
Tbio
Family:  Enzyme
Novelty:  0.0006987
Score:  0.743
Data Source:  STRINGDB
Nearest Tclin Targets
Nearest Tclin calculations are only available for targets with KEGG Pathway annotations.
Pathways (16)
Cobalamin (Cbl, vitamin B12) transport and metabolism (R-HSA-196741)

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

Find Similar Targets
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
Viral Interactions (0)
No viral interactions found
Disease Associations ()
No disease associations found
GWAS Traits (3)
GWAS Trait
EFO ID
Study Count
SNP Count
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
hemoglobin measurement
2
2
2
64.4
red blood cell distribution width
2
1
2
45.2
reticulocyte count
1
1
1
40.7
GWAS Trait
EFO ID
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
hemoglobin measurement
2
64.4
red blood cell distribution width
2
45.2
reticulocyte count
1
40.7
Find similar targets by:
IDG Resources
No IDG generated resources found
Orthologs (15)
1 – 5 of 15
Species
Name
Source ID
Gene ID
OMA
EggNOG
Inparanoid
Chimp
methylmalonic aciduria (cobalamin deficiency) cblA type
471315
Macaque
methylmalonic aciduria (cobalamin deficiency) cblA type
702634
Mouse
MGI:1923805
109136
Rat
RGD:1305035
291939
Dog
methylmalonic aciduria (cobalamin deficiency) cblA type
482635
Species
Name
OMA
EggNOG
Inparanoid
Chimp
methylmalonic aciduria (cobalamin deficiency) cblA type
Macaque
methylmalonic aciduria (cobalamin deficiency) cblA type
Mouse
Rat
Dog
methylmalonic aciduria (cobalamin deficiency) cblA type
Publication Statistics
PubMed Score 110.28
PubMed score by year
PubTator Score 60.26
PubTator score by year
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Related Publications
Items per page:
0 of 0
PMID
Year
Title