• Gene id: 55744

Gene Summary

• Gene Symbol: COA1   Gene   UCSC   Ensembl
• Aliases: C7orf44, MITRAC15
• Gene name: cytochrome c oxidase assembly factor 1 homolog
• Alternate names: cytochrome c oxidase assembly factor 1 homolog, cytochrome c oxidase assembly protein 1 homolog, mitochondrial translation regulation assembly intermediate of cytochrome c oxidase protein of 15 kDa,
• Gene location: 7p13 (43729540: 43608451)     Exons: 17     NC_000007.14
• OMIM: 614769

Protein Summary

• Protein general information: Q9GZY4  
  • Name: Cytochrome c oxidase assembly factor 1 homolog (Mitochondrial translation regulation assembly intermediate of cytochrome c oxidase protein of 15 kDa)
  • Length: 146  
  • Mass: 16694
• Sequence:

  MMWQKYAGSRRSMPLGARILFHGVFYAGGFAIVYYLIQKFHSRALYYKLAVEQLQSHPEAQEALGPPLNIHYLKL
  IDRENFVDIVDAKLKIPVSGSKSEGLLYVHSSRGGPFQRWHLDEVFLELKDGQQIPVFKLSGENGDEVKKE

• Structural information:
  • Interpro: IPR014807  
  • STRING: ENSP00000379218
• Other Databases: GeneCards:  COA1  Malacards:  COA1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0031305	integral component of mitochondrial inner membrane	IBA	cellular component
GO:0032981	mitochondrial respiratory chain complex I assembly	IBA	biological process
GO:0033617	mitochondrial cytochrome c oxidase assembly	IBA	biological process
GO:0031305	integral component of mitochondrial inner membrane	IDA	cellular component
GO:0033617	mitochondrial cytochrome c oxidase assembly	IMP	biological process
GO:0032981	mitochondrial respiratory chain complex I assembly	IMP	biological process
GO:0005739	mitochondrion	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04714	Thermogenesis

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
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)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq