• Gene id: 1327

Gene Summary

• Gene Symbol: COX4I1   Gene   UCSC   Ensembl
• Aliases: COX IV-1, COX4, COX4-1, COXIV, COXIV-1
• Gene name: cytochrome c oxidase subunit 4I1
• Alternate names: cytochrome c oxidase subunit 4 isoform 1, mitochondrial, cytochrome c oxidase polypeptide IV, cytochrome c oxidase subunit IV,
• Gene location: 16q24.1 (85799694: 85807067)     Exons: 6     NC_000016.10
• Gene summary(Entrez): Cytochrome c oxidase (COX) is the terminal enzyme of the mitochondrial respiratory chain. It is a multi-subunit enzyme complex that couples the transfer of electrons from cytochrome c to molecular oxygen and contributes to a proton electrochemical gradien
• OMIM: 605721

Protein Summary

• Protein general information: P13073  
  • Name: Cytochrome c oxidase subunit 4 isoform 1, mitochondrial (Cytochrome c oxidase polypeptide IV) (Cytochrome c oxidase subunit IV isoform 1) (COX IV 1)
  • Length: 169  
  • Mass: 19577
  • Tissue specificity: Ubiquitous.
• Sequence:

  MLATRVFSLVGKRAISTSVCVRAHESVVKSEDFSLPAYMDRRDHPLPEVAHVKHLSASQKALKEKEKASWSSLSM
  DEKVELYRIKFKESFAEMNRGSNEWKTVVGGAMFFIGFTALVIMWQKHYVYGPLPQSFDKEWVAKQTKRMLDMKV
  NPIQGLASKWDYEKNEWKK

• Structural information:
  • Interpro: IPR013288  IPR004203  IPR036639  
  • CDD: cd00922
  • PDB: 5Z62
  • PDBsum: 5Z62
  • STRING: ENSP00000457513
• Other Databases: GeneCards:  COX4I1  Malacards:  COX4I1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005739	mitochondrion	IDA	cellular component
GO:0005751	mitochondrial respiratory chain complex IV	IBA	cellular component
GO:0006123	mitochondrial electron transport, cytochrome c to oxygen	IBA	biological process
GO:0005743	mitochondrial inner membrane	ISS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0004129	cytochrome-c oxidase activity	IEA	molecular function
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0004129	cytochrome-c oxidase activity	TAS	molecular function
GO:0006091	generation of precursor metabolites and energy	TAS	biological process
GO:0005743	mitochondrial inner membrane	TAS	cellular component
GO:0006123	mitochondrial electron transport, cytochrome c to oxygen	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:0007584	response to nutrient	IEA	biological process
GO:0005829	cytosol	IEA	cellular component
GO:0031966	mitochondrial 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:0005654	nucleoplasm	IDA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:1902600	proton transmembrane transport	IEA	biological process
GO:1902600	proton transmembrane transport	IEA	biological process
GO:0006119	oxidative phosphorylation	IEA	biological process
GO:0005751	mitochondrial respiratory chain complex IV	IMP	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0005739	mitochondrion	HDA	cellular component
GO:0016020	membrane	HDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa05010	Alzheimer disease
hsa05016	Huntington disease
hsa05012	Parkinson disease
hsa04714	Thermogenesis
hsa00190	Oxidative phosphorylation
hsa04932	Non-alcoholic fatty liver disease
hsa04260	Cardiac muscle contraction

Diseases

Associated diseases	References
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)