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Tbio
MMADHC
Methylmalonic aciduria and homocystinuria type D protein, mitochondrial

Protein Summary
Description
Involved in cobalamin metabolism (PubMed:18385497, PubMed:23415655, PubMed:24722857, PubMed:26364851). Plays a role in regulating the biosynthesis of two coenzymes, methylcobalamin and adenosylcobalamin (PubMed:18385497, PubMed:24722857). Plays a role in regulating the proportion of methylcobalamin and adenosylcobalamin (PubMed:23415655, PubMed:24722857). Promotes oxidation of cob(II)alamin bound to MMACHC (PubMed:26364851). This gene encodes a mitochondrial protein that is involved in an early step of vitamin B12 metabolism. Vitamin B12 (cobalamin) is essential for normal development and survival in humans. Mutations in this gene cause methylmalonic aciduria and homocystinuria type cblD (MMADHC), a disorder of cobalamin metabolism that is characterized by decreased levels of the coenzymes adenosylcobalamin and methylcobalamin. Pseudogenes have been identified on chromosomes 11 and X.[provided by RefSeq, Nov 2008]
Uniprot Accession IDs
Gene Name
Ensembl ID
  • ENST00000303319
  • ENSP00000301920
  • ENSG00000168288
  • ENST00000428879
  • ENSP00000389060

Symbol
  • C2orf25
  • CL25022
  • cblD
  • C2orf25
  • CL25022
Illumination Graph
Knowledge Table
Most Knowledge About
Knowledge Value (0 to 1 scale)
kinase perturbation
1
disease perturbation
0.9
pathway
0.78
phenotype
0.68
transcription factor binding site profile
0.68


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: 44.93   (req: < 5)
Gene RIFs: 12   (req: <= 3)
Antibodies: 193   (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: 44.93   (req: >= 5)
Gene RIFs: 12   (req: > 3)
Antibodies: 193   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 2
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 (2)
1 – 2 of 2
PDB Structure Id
Ligand
Method
Resolution (Å)
M.W. (kDa)
Pub Year
Title
PDB Structure Id
M.W.
Resolution
Pub Year
Pathways (11)
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 9
Data Source
Name
Explore in Pharos
Explore in Source
Reactome
Cobalamin (Cbl, vitamin B12) transport and metabolism
Reactome
Defective MMADHC causes methylmalonic aciduria and homocystinuria type cblD
Reactome
Defects in cobalamin (B12) metabolism
Reactome
Defects in vitamin and cofactor metabolism
Reactome
Disease
Name
Explore in Pharos
Explore in Source
Cobalamin (Cbl, vitamin B12) transport and metabolism
Defective MMADHC causes methylmalonic aciduria and homocystinuria type cblD
Defects in cobalamin (B12) metabolism
Defects in vitamin and cofactor metabolism
Disease
Gene Ontology Terms (5)
Items per page:
10
1 – 3 of 3
GO Term
Evidence
Assigned by
Inferred from Direct Assay (IDA)
UniProtKB
Inferred from Direct Assay (IDA)
UniProtKB
Traceable Author Statement (TAS)
Reactome
Protein-Protein Interactions (89)
1 – 10 of 89
MAP7
Tbio
Novelty: 0.01976296
p_int: 0.999995353
p_ni: 0.000004636
p_wrong: 1.2e-8
Data Source: BioPlex
AURKAIP1
Tchem
Family: Enzyme
Novelty: 0.19241693
p_int: 0.999989564
p_ni: 0.000010436
Data Source: BioPlex
SMRP1
Tdark
Novelty: 0.06822838
p_int: 0.999979161
p_ni: 0.000020709
p_wrong: 1.29e-7
Score: 0.241
Data Source: BioPlex,STRINGDB
SFPQ
Tbio
Novelty: 0.01207637
p_int: 0.999918674
p_ni: 0.000081325
p_wrong: 1e-9
Data Source: BioPlex
CCDC69
Tdark
Novelty: 0.37983713
p_int: 0.999887805
p_ni: 0.000111992
p_wrong: 2.04e-7
Score: 0.183
Data Source: BioPlex,STRINGDB
RASL10B
Tdark
Family: Enzyme
Novelty: 0.36095886
p_int: 0.999621138
p_ni: 0.000363736
p_wrong: 0.000015126
Score: 0.19
Data Source: BioPlex,STRINGDB
TSGA10IP
Tdark
Novelty: 20.75428866
p_int: 0.999465271
p_ni: 0.00053413
p_wrong: 5.99e-7
Data Source: BioPlex
C1orf94
Tdark
Novelty: 23
p_int: 0.999460308
p_ni: 0.000490969
p_wrong: 0.000048723
Score: 0.19
Data Source: BioPlex,STRINGDB
NDUFS7
Tclin
Family: Enzyme
Novelty: 0.01562198
p_int: 0.998294726
p_ni: 0.000077739
p_wrong: 0.001627535
Data Source: BioPlex
ODF3
Tbio
Novelty: 0.08747036
p_int: 0.997066779
p_ni: 0.002047061
p_wrong: 0.00088616
Data Source: BioPlex
Publication Statistics
PubMed Score  44.93

PubMed score by year
PubTator Score  23.66

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