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Tbio
MMACHC
Methylmalonic aciduria and homocystinuria type C protein

Protein Summary
Description
Catalyzes the reductive dealkylation of cyanocobalamin to cob(II)alamin, using FAD or FMN as cofactor and NADPH as cosubstrate (PubMed:19700356, PubMed:21697092, PubMed:22642810). Can also catalyze the glutathione-dependent reductive demethylation of methylcobalamin, and, with much lower efficiency, the glutathione-dependent reductive demethylation of adenosylcobalamin (PubMed:19801555, PubMed:22642810, PubMed:25809485). Under anaerobic conditions cob(I)alamin is the first product; it is highly reactive and is converted to aquocob(II)alamin in the presence of oxygen (PubMed:19801555). Binds cyanocobalamin, adenosylcobalamin, methylcobalamin and other, related vitamin B12 derivatives (PubMed:21071249). The exact function of the protein encoded by this gene is not known, however, its C-terminal region shows similarity to TonB, a bacterial protein involved in energy transduction for cobalamin (vitamin B12) uptake. Hence, it is postulated that this protein may have a role in the binding an ...more
Uniprot Accession IDs
Gene Name
Ensembl ID
  • ENST00000401061
  • ENSP00000383840
  • ENSG00000132763

Symbol
  • cblC
Illumination Graph
Knowledge Table
Most Knowledge About
Knowledge Value (0 to 1 scale)
virus perturbation
0.97
transcription factor binding site profile
0.82
pathway
0.78
histone modification site profile
0.77
cell type or tissue
0.68


Related Tools
Target Illumination GWAS Analytics (TIGA)
TIGA scores and ranks GWAS discovered associations according to the quantity and quality of the evidence supporting the association.
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
GlyGen is a data integration and dissemination project for carbohydrate and glycoconjugate related data.
ARCHS4
ARCHS4 provides access to gene-function predictions based on RNA-seq co-expression, and gene expression levels across cell and tissues.
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: 138.03   (req: < 5)
Gene RIFs: 37   (req: <= 3)
Antibodies: 336   (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: 138.03   (req: >= 5)
Gene RIFs: 37   (req: > 3)
Antibodies: 336   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 12
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
GWAS Traits (1)
GWAS Trait
EFO ID
Study Count
SNP Count
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
homocysteine measurement
1
1
1
47.9
GWAS Trait
EFO ID
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
homocysteine measurement
1
47.9
Orthologs (11)
1 – 5 of 11
Species
Name
Source ID
Gene ID
OMA
EggNOG
Inparanoid
Macaque
methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria
706247
Mouse
MGI:1914346
67096
Rat
RGD:1310806
313520
Dog
methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria
482514
Horse
methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria
100065336
Species
Name
OMA
EggNOG
Inparanoid
Macaque
methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria
Mouse
Rat
Dog
methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria
Horse
methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria
Protein Structure (5 Structures, 1 AlphaFold Model)
RepresentationColor Scheme

Click on a row in the table to change the structure displayed.
More information can be found at RCSB PDB

AF-Q9Y4U1-F1-model_v1

AlphaFold Structures Developed by DeepMind and EMBL-EBI

1 – 5 of 5
PDB Structure Id
Ligand
Method
Resolution (Å)
Residues
Fraction of Total Protein
Pub Year
Title
PDB Structure Id
Fraction of Total Protein
Resolution
Pub Year
Pathways (13)
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 10
Data Source
Name
Explore in Pharos
Explore in Source
Reactome
Cobalamin (Cbl, vitamin B12) transport and metabolism
Reactome
Defective MMACHC causes methylmalonic aciduria and homocystinuria type cblC
Reactome
Defective MMADHC causes methylmalonic aciduria and homocystinuria type cblD
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 MMACHC causes methylmalonic aciduria and homocystinuria type cblC
Defective MMADHC causes methylmalonic aciduria and homocystinuria type cblD
Defects in cobalamin (B12) metabolism
Defects in vitamin and cofactor metabolism
Gene Ontology Terms (14)
Items per page:
10
1 – 7 of 7
GO Term
Evidence
Assigned by
Inferred from Direct Assay (IDA)
UniProtKB
Inferred from Direct Assay (IDA)
UniProtKB
Inferred from Direct Assay (IDA)
UniProtKB
Inferred from Direct Assay (IDA)
UniProtKB
Inferred from Direct Assay (IDA)
UniProtKB
Inferred from Physical Interaction (IPI)
UniProtKB
Inferred from Electronic Annotation (IEA)
UniProtKB-KW
Protein-Protein Interactions (66)
1 – 10 of 66
TEPSIN
Tdark
Novelty: 0.48775142
p_int: 0.99999949
p_ni: 1.5e-8
p_wrong: 4.95e-7
Data Source: BioPlex
SELENBP1
Tbio
Novelty: 0.00758018
p_int: 0.99998484
p_ni: 7e-9
p_wrong: 0.000015153
Score: 0.345
Data Source: BioPlex,STRINGDB
C6orf222
Tdark
Novelty: 37
p_int: 0.999898518
p_ni: 1.23e-7
p_wrong: 0.000101358
Data Source: BioPlex
MMADHC
Tbio
Novelty: 0.02299238
Score: 0.993
Data Source: Reactome,STRINGDB
MTRR
Tbio
Family: Enzyme
Novelty: 0.00231914
Score: 0.988
Data Source: STRINGDB
MTR
Tbio
Family: Enzyme
Novelty: 0.0006987
Score: 0.983
Data Source: STRINGDB
MMAA
Tbio
Novelty: 0.00965052
Score: 0.864
Data Source: STRINGDB
MUT
Tbio
Family: Enzyme
Novelty: 0.00074807
Score: 0.859
Data Source: STRINGDB
MMAB
Tbio
Family: Enzyme
Novelty: 0.01681296
Score: 0.843
Data Source: STRINGDB
GRHL2
Tbio
Family: TF
Novelty: 0.01092611
Score: 0.756
Data Source: STRINGDB
Publication Statistics
PubMed Score  138.03

PubMed score by year
PubTator Score  67.3

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