• Gene id: 100131801

Gene Summary

• Gene Symbol: PET100   Gene   UCSC   Ensembl
• Aliases: C19orf79
• Gene name: PET100 cytochrome c oxidase chaperone
• Alternate names: protein PET100 homolog, mitochondrial, PET100 homolog,
• Gene location: 19p13.2 (7629792: 7631955)     Exons: 68     NC_000019.10
• Gene summary(Entrez): Mitochondrial complex IV, or cytochrome c oxidase, is a large transmembrane protein complex that is part of the respiratory electron transport chain of mitochondria. The small protein encoded by this gene plays a role in the biogenesis of mitochondrial co
• OMIM: 614770

Protein Summary

• Protein general information: P0DJ07  
  • Name: Protein PET100 homolog, mitochondrial
  • Length: 73  
  • Mass: 9114
• Sequence:

  MGVKLEIFRMIIYLTFPVAMFWVSNQAEWFEDDVIQRKRELWPPEKLQEIEEFKERLRKRREEKLLRDAQQNS

• Structural information:
  • Interpro: IPR018625  
  • STRING: ENSP00000470539
• Other Databases: GeneCards:  PET100  Malacards:  PET100

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0051082	unfolded protein binding	IBA	molecular function
GO:0031305	integral component of mitochondrial inner membrane	IBA	cellular component
GO:0033617	mitochondrial cytochrome c oxidase assembly	IBA	biological process
GO:0005739	mitochondrion	IEA	cellular component
GO:0033617	mitochondrial cytochrome c oxidase assembly	IEA	biological process
GO:0005739	mitochondrion	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0016020	membrane	IEA	cellular component

Diseases

Associated diseases	References
Cytochrome c oxidase	KEGG:H01368
Cytochrome c oxidase	KEGG:H01368
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)