• Gene id: 25974

Gene Summary

• Gene Symbol: MMACHC   Gene   UCSC   Ensembl
• Aliases: cblC
• Gene name: metabolism of cobalamin associated C
• Alternate names: methylmalonic aciduria and homocystinuria type C protein, cyanocobalamin reductase (cyanide-eliminating), methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria,
• Gene location: 1p34.1 (45500228: 45513381)     Exons: 4     NC_000001.11
• Gene summary(Entrez): 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
• OMIM: 618305

Protein Summary

• Protein general information: Q9Y4U1  
  • Name: Methylmalonic aciduria and homocystinuria type C protein (EC 1.16.1. ) (CblC) (Cyanocobalamin reductase (cyanide eliminating))
  • Length: 282  
  • Mass: 31728
  • Tissue specificity: Widely expressed. Expressed at higher level in fetal liver. Also expressed in spleen, lymph node, thymus and bone marrow. Weakly or not expressed in peripheral blood leukocytes. {ECO
• Sequence:

  MEPKVAELKQKIEDTLCPFGFEVYPFQVAWYNELLPPAFHLPLPGPTLAFLVLSTPAMFDRALKPFLQSCHLRML
  TDPVDQCVAYHLGRVRESLPELQIEIIADYEVHPNRRPKILAQTAAHVAGAAYYYQRQDVEADPWGNQRISGVCI
  HPRFGGWFAIRGVVLLPGIEVPDLPPRKPHDCVPTRADRIALLEGFNFHWRDWTYRDAVTPQERYSEEQKAYFST
  PPAQRLALLGLAQPSEKPSSPSPDLPFTTPAPKKPGNPSRARSWLSPRVSPPASPGP

• Structural information:
  • Interpro: IPR032037  
  • CDD: cd12959
  • PDB: 3SBY 3SBZ 3SC0 3SOM 5UOS
  • PDBsum: 3SBY 3SBZ 3SC0 3SOM 5UOS
  • STRING: ENSP00000383840
• Other Databases: GeneCards:  MMACHC  Malacards:  MMACHC

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0071949	FAD binding	IBA	molecular function
GO:0055114	oxidation-reduction process	IBA	biological process
GO:0033787	cyanocobalamin reductase (cyanide-eliminating) activity	IBA	molecular function
GO:0009235	cobalamin metabolic process	IBA	biological process
GO:0032451	demethylase activity	IBA	molecular function
GO:0005737	cytoplasm	IBA	cellular component
GO:0071949	FAD binding	IDA	molecular function
GO:0009235	cobalamin metabolic process	IDA	biological process
GO:0033787	cyanocobalamin reductase (cyanide-eliminating) activity	IDA	molecular function
GO:0009235	cobalamin metabolic process	IDA	biological process
GO:0043295	glutathione binding	IDA	molecular function
GO:0055114	oxidation-reduction process	IDA	biological process
GO:0070988	demethylation	IDA	biological process
GO:0005737	cytoplasm	IDA	cellular component
GO:0006749	glutathione metabolic process	IDA	biological process
GO:0016491	oxidoreductase activity	IDA	molecular function
GO:0032451	demethylase activity	IDA	molecular function
GO:0006749	glutathione metabolic process	IDA	biological process
GO:0042803	protein homodimerization activity	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0016740	transferase activity	IEA	molecular function
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0031419	cobalamin binding	IEA	molecular function
GO:0033787	cyanocobalamin reductase (cyanide-eliminating) activity	IEA	molecular function
GO:0016491	oxidoreductase activity	TAS	molecular function
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0009235	cobalamin metabolic process	TAS	biological process
GO:0033787	cyanocobalamin reductase (cyanide-eliminating) activity	TAS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0009235	cobalamin metabolic process	IMP	biological process
GO:0005829	cytosol	IEA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04977	Vitamin digestion and absorption

Diseases

Associated diseases	References
Methylmalonic aciduria and homocystinuria	KEGG:H02221
Methylmalonic aciduria and homocystinuria	KEGG:H02221
Male factor infertility	MIK: 29961538

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
29961538	Male factor infertility			318 (128 couples presenting with OAT (MF) and 118 maternal age-matched control (no MF) subjects undergoing infertility treatment, 72 surplus cryopreserved blastocysts)	Male infertility	RNA-seq