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

• Q9H3L0
• B2R895
• D3DP91
• O95891

Gene Name

• MMADHC

Ensembl ID

• ENST00000303319
• ENSP00000301920
• ENSG00000168288
• ENST00000428879
• ENSP00000389060

Symbol

• C2orf25
• CL25022
• cblD
• C2orf25
• CL25022

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

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: 46.55   (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: 46.55   (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 Sequence and Structure

Residue Counts

Protein Sequence

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Expression Data (0 Tissues)

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No expression data found

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Approved Drugs (0)

No approved drugs found

Active Ligands (0)

No active ligands found

Protein-Protein Interactions (89)

Explore Interacting Targets

1 – 10 of 89

• See Interactions on String-DB

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

Nearest Tclin Targets

Nearest Tclin calculations are only available for targets with KEGG Pathway annotations.

Pathways (11)

Reactome (9)

WikiPathways (2)

Cobalamin (Cbl, vitamin B12) transport and metabolism (R-HSA-196741)

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5

1 – 5 of 9

Data Source	Name	Explore in Pharos	Explore in Source
Reactome	Cobalamin (Cbl, vitamin B12) transport and metabolism	19 targets	R-HSA-196741
Reactome	Defective MMADHC causes methylmalonic aciduria and homocystinuria type cblD	2 targets	R-HSA-3359473
Reactome	Defects in cobalamin (B12) metabolism	12 targets	R-HSA-3296469
Reactome	Defects in vitamin and cofactor metabolism	20 targets	R-HSA-3296482
Reactome	Disease	1105 targets	R-HSA-1643685

Name	Explore in Pharos	Explore in Source
Cobalamin (Cbl, vitamin B12) transport and metabolism	19 targets	R-HSA-196741
Defective MMADHC causes methylmalonic aciduria and homocystinuria type cblD	2 targets	R-HSA-3359473
Defects in cobalamin (B12) metabolism	12 targets	R-HSA-3296469
Defects in vitamin and cofactor metabolism	20 targets	R-HSA-3296482
Disease	1105 targets	R-HSA-1643685

Viral Interactions (0)

No viral interactions found

Gene Ontology Terms (5)

Components (3)

Processes (2)

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1 – 3 of 3

GO Term	Evidence	Assigned by
cytoplasm	Inferred from Direct Assay (IDA)	UniProtKB
mitochondrion	Inferred from Direct Assay (IDA)	UniProtKB
cytosol	Traceable Author Statement (TAS)	Reactome

Disease Associations ()

No disease associations found

GWAS Traits (0)

No GWAS traits found

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UniProt Keyword Find Similar Targets

No Header	No Header
3D-structure
Acetylation
Complete proteome
Cytoplasm
Disease mutation
Mitochondrion
Reference proteome
Transit peptide

IDG Resources

No IDG generated resources found

Orthologs (14)

1 – 5 of 14

Species	Name	Source ID	Gene ID	OMA	EggNOG	Inparanoid
Chimp	methylmalonic aciduria and homocystinuria, cblD type	VGNC:6369	459653
Macaque	methylmalonic aciduria and homocystinuria, cblD type		693783
Mouse	methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria	MGI:1923786	109129
Rat	methylmalonic aciduria and homocystinuria, cblD type	RGD:1303272	362134
Dog	methylmalonic aciduria and homocystinuria, cblD type		476145

Species	Name	OMA	EggNOG	Inparanoid
Chimp	methylmalonic aciduria and homocystinuria, cblD type
Macaque	methylmalonic aciduria and homocystinuria, cblD type
Mouse	methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria
Rat	methylmalonic aciduria and homocystinuria, cblD type
Dog	methylmalonic aciduria and homocystinuria, cblD type

Publication Statistics

PubMed Score 46.55

PubMed score by year

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PubTator Score 23.66

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Related Publications

Text Mined References (19)

GeneRif Annotations (12)

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10

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PMID	Year	Title