• Gene id: 285521

Gene Summary

• Gene Symbol: COX18   Gene   UCSC   Ensembl
• Aliases: COX18HS
• Gene name: cytochrome c oxidase assembly factor COX18
• Alternate names: cytochrome c oxidase assembly protein COX18, mitochondrial, COX18, cytochrome c oxidase assembly factor, cytochrome c oxidase assembly homolog 18, cytochrome c oxidase assembly protein 18, mitochondrial inner membrane protein COX18,
• Gene location: 4q13.3 (73069776: 73052361)     Exons: 6     NC_000004.12
• Gene summary(Entrez): This gene encodes a cytochrome c oxidase assembly protein. The encoded protein is essential for integral membrane protein insertion into the mitochondrial inner membrane. It is also required for cytochrome c oxidase assembly and activity. Alternative spli
• OMIM: 610428

Protein Summary

• Protein general information: Q8N8Q8  
  • Name: Cytochrome c oxidase assembly protein COX18, mitochondrial (COX18Hs) (Cytochrome c oxidase assembly protein 18)
  • Length: 333  
  • Mass: 37063
• Sequence:

  MLCRLGGRWLRPLPALQLWARDLPLAPVPTSGAKRPTLPVWAVAPVSAVHANGWYEALAASSPVRVAEEVLLGVH
  AATGLPWWGSILLSTVALRGAVTLPLAAYQHYILAKVENLQPEIKTIARHLNQEVAVRANQLGWSKRDARLTYLK
  NMRRLISELYVRDNCHPFKATVLVWIQLPMWIFMSFALRNLSTGAAHSEGFSVQEQLATGGILWFPDLTAPDSTW
  ILPISVGVINLLIVEICALQKIGMSRFQTYITYFVRAMSVLMIPIAATVPSSIVLYWLCSSFVGLSQNLLLRSPG
  FRQLCRIPSTKSDSETPYKDIFAAFNTKFISRK

• Structural information:
  • Interpro: IPR001708  
  • STRING: ENSP00000425261
• Other Databases: GeneCards:  COX18  Malacards:  COX18

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0031305	integral component of mitochondrial inner membrane	IBA	cellular component
GO:0032977	membrane insertase activity	IBA	molecular function
GO:0033617	mitochondrial cytochrome c oxidase assembly	IBA	biological process
GO:0032979	protein insertion into mitochondrial inner membrane from matrix	IBA	biological process
GO:0051205	protein insertion into membrane	IBA	biological process
GO:0032979	protein insertion into mitochondrial inner membrane from matrix	IDA	biological process
GO:0032977	membrane insertase activity	IDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0033617	mitochondrial cytochrome c oxidase assembly	IMP	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0032977	membrane insertase activity	IEA	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0031305	integral component of mitochondrial inner membrane	IDA	cellular component
GO:0051204	protein insertion into mitochondrial membrane	IGI	biological process
GO:0032977	membrane insertase activity	IGI	molecular function
GO:0008535	respiratory chain complex IV assembly	IGI	biological process

KEGG pathways

Pathway id	Pathway name
hsa04714	Thermogenesis

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
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