• Gene id: 84334

Gene Summary

• Gene Symbol: COA8   Gene   UCSC   Ensembl
• Aliases: APOP, APOP1, APOPT1, C14orf153
• Gene name: cytochrome c oxidase assembly factor 8
• Alternate names: cytochrome c oxidase assembly factor 8, UPF0671 protein C14orf153, apoptogenic 1, mitochondrial,
• Gene location: 14q32.33 (103562959: 103590898)     Exons: 8     NC_000014.9
• Gene summary(Entrez): This gene encodes a protein that localizes to the mitochondria, where it stimulates the release of cytochrome c, thereby promoting programmed cell death. Mutations in this gene have been found in individuals with mitochondrial complex IV deficiency. Alter
• OMIM: 616003

Protein Summary

• Protein general information: Q96IL0  
  • Name: Cytochrome c oxidase assembly factor 8 (COA8) (Apoptogenic protein 1, mitochondrial) (APOP 1)
  • Length: 206  
  • Mass: 24153
  • Tissue specificity: Expressed in fibroblasts. {ECO
• Sequence:

  MLPCAAGARGRGAMVVLRAGKKTFLPPLCRAFACRGCQLAPERGAERRDTAPSGVSRFCPPRKSCHDWIGPPDKY
  SNLRPVHFYIPENESPLEQKLRKLRQETQEWNQQFWANQNLTFSKEKEEFIHSRLKTKGLGLRTESGQKATLNAE
  EMADFYKEFLSKNFQKHMYYNRDWYKRNFAITFFMGKVALERIWNKLKQKQKKRSN

• Structural information:
  • Interpro: IPR018796  
  • STRING: ENSP00000386485
• Other Databases: GeneCards:  COA8  Malacards:  COA8

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0097193	intrinsic apoptotic signaling pathway	IEA	biological process
GO:0005739	mitochondrion	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0006915	apoptotic process	IEA	biological process
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0005739	mitochondrion	IBA	cellular component
GO:0000302	response to reactive oxygen species	IEA	biological process
GO:0050821	protein stabilization	IEA	biological process
GO:0097193	intrinsic apoptotic signaling pathway	IEA	biological process
GO:1904960	positive regulation of cytochrome-c oxidase activity	IEA	biological process
GO:0005739	mitochondrion	IEA	cellular component
GO:0033617	mitochondrial cytochrome c oxidase assembly	IEA	biological process
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0099617	matrix side of mitochondrial inner membrane	IDA	cellular component
GO:0000302	response to reactive oxygen species	IDA	biological process
GO:0050821	protein stabilization	IDA	biological process
GO:1904960	positive regulation of cytochrome-c oxidase activity	IDA	biological process
GO:0005739	mitochondrion	IDA	cellular component
GO:0033617	mitochondrial cytochrome c oxidase assembly	IDA	biological process
GO:1903427	negative regulation of reactive oxygen species biosynthetic process	IMP	biological process
GO:1904960	positive regulation of cytochrome-c oxidase activity	IMP	biological process
GO:0033617	mitochondrial cytochrome c oxidase assembly	IMP	biological process

Diseases

Associated diseases	References
Cytochrome c oxidase	KEGG:H01368
Cytochrome c oxidase	KEGG:H01368
Spermatogenic defects	MIK: 31037746
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)
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R