• Gene id: 493753

Gene Summary

• Gene Symbol: COA5   Gene   UCSC   Ensembl
• Aliases: 6330578E17Rik, C2orf64, CEMCOX3, Pet191
• Gene name: cytochrome c oxidase assembly factor 5
• Alternate names: cytochrome c oxidase assembly factor 5, protein C2orf64,
• Gene location: 2q11.2 (98608511: 98599313)     Exons: 3     NC_000002.12
• Gene summary(Entrez): This gene encodes an ortholog of yeast Pet191, which in yeast is a subunit of a large oligomeric complex associated with the mitochondrial inner membrane, and required for the assembly of the cytochrome c oxidase complex. Mutations in this gene are associ
• OMIM: 613920

Protein Summary

• Protein general information: Q86WW8  
  • Name: Cytochrome c oxidase assembly factor 5
  • Length: 74  
  • Mass: 8376
• Sequence:

  MPKYYEDKPQGGACAGLKEDLGACLLQSDCVVQEGKSPRQCLKEGYCNSLKYAFFECKRSVLDNRARFRGRKGY

• Structural information:
  • Protein Domains: (27..6-)
    (/note="CHCH-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU01150"-)
  • Interpro: IPR018793  
  • Prosite: PS51808
  • STRING: ENSP00000330730
• Other Databases: GeneCards:  COA5  Malacards:  COA5

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0033617	mitochondrial cytochrome c oxidase assembly	IBA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005739	mitochondrion	IEA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04714	Thermogenesis

Diseases

Associated diseases	References
Cytochrome c oxidase	KEGG:H01368
Fatal infantile cardioencephalomyopathy	KEGG:H01200
Cytochrome c oxidase	KEGG:H01368
Fatal infantile cardioencephalomyopathy	KEGG:H01200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)