• Gene id: 10063

Gene Summary

• Gene Symbol: COX17   Gene   UCSC   Ensembl
• Gene name: cytochrome c oxidase copper chaperone COX17
• Alternate names: cytochrome c oxidase copper chaperone, COX17 cytochrome c oxidase assembly homolog, COX17, cytochrome c oxidase copper chaperone, cytochrome c oxidase 17 copper chaperone, cytochrome c oxidase assembly homolog 17, human homolog of yeast mitochondrial copper re,
• Gene location: 3q13.33 (119677395: 119669524)     Exons: 3     NC_000003.12
• Gene summary(Entrez): Cytochrome c oxidase (COX), the terminal component of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. This component is a heteromeric complex consisting of 3 catalytic subunits encoded by mitochond
• OMIM: 604813

Protein Summary

• Protein general information: Q14061  
  • Name: Cytochrome c oxidase copper chaperone
  • Length: 63  
  • Mass: 6915
  • Tissue specificity: Ubiquitous. {ECO
• Sequence:

  MPGLVDSNPAPPESQEKKPLKPCCACPETKKARDACIIEKGEEHCGHLIEAHKECMRALGFKI

• Structural information:
  • Protein Domains: (23..6-)
    (/note="CHCH-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU01150"-)
  • Interpro: IPR009069  IPR007745  
  • Prosite: PS51808
  • PDB: 2L0Y 2LGQ 2RN9 2RNB
  • PDBsum: 2L0Y 2LGQ 2RN9 2RNB
  • DIP: 46087
  • STRING: ENSP00000261070
• Other Databases: GeneCards:  COX17  Malacards:  COX17

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0033617	mitochondrial cytochrome c oxidase assembly	IBA	biological process
GO:0016531	copper chaperone activity	IBA	molecular function
GO:0005758	mitochondrial intermembrane space	IBA	cellular component
GO:0016531	copper chaperone activity	ISS	molecular function
GO:0005507	copper ion binding	IEA	molecular function
GO:0006825	copper ion transport	IEA	biological process
GO:0005758	mitochondrial intermembrane space	IEA	cellular component
GO:0016531	copper chaperone activity	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0005739	mitochondrion	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005507	copper ion binding	TAS	molecular function
GO:0005737	cytoplasm	TAS	cellular component
GO:0006091	generation of precursor metabolites and energy	TAS	biological process
GO:0006825	copper ion transport	TAS	biological process
GO:0005515	protein binding	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:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0007507	heart development	IEA	biological process
GO:0007420	brain development	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005758	mitochondrial intermembrane space	IEA	cellular component
GO:0008284	positive regulation of cell population proliferation	IMP	biological process
GO:1904960	positive regulation of cytochrome-c oxidase activity	IMP	biological process
GO:0005737	cytoplasm	IDA	cellular component
GO:0005758	mitochondrial intermembrane space	IDA	cellular component
GO:0033617	mitochondrial cytochrome c oxidase assembly	IMP	biological process
GO:1903136	cuprous ion binding	IDA	molecular function
GO:0016531	copper chaperone activity	IMP	molecular function

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa04714	Thermogenesis
hsa00190	Oxidative phosphorylation

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			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881