• Gene id: 4512

Gene Summary

• Gene Symbol: COX1   Gene   UCSC   Ensembl
• Aliases: COI, MTCO1
• Gene name: mitochondrially encoded cytochrome c oxidase I
• OMIM: 0

Protein Summary

• Protein general information: P00395  
  • Name: Cytochrome c oxidase subunit 1 (EC 1.9.3.1) (Cytochrome c oxidase polypeptide I)
  • Length: 513  
  • Mass: 57,041
• Sequence:

  MFADRWLFSTNHKDIGTLYLLFGAWAGVLGTALSLLIRAELGQPGNLLGNDHIYNVIVTAHAFVMIFFMVMPIMI
  GGFGNWLVPLMIGAPDMAFPRMNNMSFWLLPPSLLLLLASAMVEAGAGTGWTVYPPLAGNYSHPGASVDLTIFSL
  HLAGVSSILGAINFITTIINMKPPAMTQYQTPLFVWSVLITAVLLLLSLPVLAAGITMLLTDRNLNTTFFDPAGG
  GDPILYQHLFWFFGHPEVYILILPGFGMISHIVTYYSGKKEPFGYMGMVWAMMSIGFLGFIVWAHHMFTVGMDVD
  TRAYFTSATMIIAIPTGVKVFSWLATLHGSNMKWSAAVLWALGFIFLFTVGGLTGIVLANSSLDIVLHDTYYVVA
  HFHYVLSMGAVFAIMGGFIHWFPLFSGYTLDQTYAKIHFTIMFIGVNLTFFPQHFLGLSGMPRRYSDYPDAYTTW
  NILSSVGSFISLTAVMLMIFMIWEAFASKRKVLMVEEPSMNLEWLYGCPPPYHTFEEPVYMKS

• Structural information:
  • Interpro: IPR023616  IPR036927  IPR000883  IPR023615  IPR033944  
  • Prosite: PS50855 PS00077
  • CDD: cd01663
  • STRING: ENSP00000354499
• Other Databases: GeneCards:  COX1  Malacards:  COX1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005506	iron ion binding	IEA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005743	mitochondrial inner membrane	TAS	cellular component
GO:0005751	mitochondrial respiratory chain complex IV	IEA	cellular component
GO:0006123	mitochondrial electron transport, cytochrome c to oxygen	TAS	biological process
GO:0006979	response to oxidative stress	IEA	biological process
GO:0007568	aging	IEA	biological process
GO:0009060	aerobic respiration	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0020037	heme binding	IEA	molecular function
GO:0021549	cerebellum development	IEA	biological process
GO:0045277	respiratory chain complex IV	IDA	cellular component
GO:0046688	response to copper ion	IEA	biological process
GO:0051602	response to electrical stimulus	IEA	biological process
GO:1902600	hydrogen ion transmembrane transport	IEA	biological process
GO:0004129	cytochrome-c oxidase activity	IMP	molecular function
GO:0004129	cytochrome-c oxidase activity	IEA	molecular function
GO:0004129	cytochrome-c oxidase activity	IEA	molecular function
GO:0004129	cytochrome-c oxidase activity	IEA	molecular function
GO:0005506	iron ion binding	IEA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005739	mitochondrion	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0005743	mitochondrial inner membrane	TAS	cellular component
GO:0005751	mitochondrial respiratory chain complex IV	IEA	cellular component
GO:0006119	oxidative phosphorylation	IEA	biological process
GO:0006123	mitochondrial electron transport, cytochrome c to oxygen	TAS	biological process
GO:0006979	response to oxidative stress	IEA	biological process
GO:0007568	aging	IEA	biological process
GO:0009055	electron carrier activity	IEA	molecular function
GO:0009060	aerobic respiration	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0020037	heme binding	IEA	molecular function
GO:0021549	cerebellum development	IEA	biological process
GO:0045277	respiratory chain complex IV	IDA	cellular component
GO:0046688	response to copper ion	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0051602	response to electrical stimulus	IEA	biological process
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0070469	respiratory chain	IEA	cellular component
GO:1902600	hydrogen ion transmembrane transport	IEA	biological process
GO:0004129	cytochrome-c oxidase activity	IMP	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005743	mitochondrial inner membrane	TAS	cellular component
GO:0006123	mitochondrial electron transport, cytochrome c to oxygen	TAS	biological process
GO:0045277	respiratory chain complex IV	IDA	cellular component
GO:0004129	cytochrome-c oxidase activity	IMP	molecular function

KEGG pathways

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

Diseases

Associated diseases	References
Cancer	GAD: 19267350
Cancer (colorectal)	GAD: 19050702
Cancer (ovarian)	GAD: 18662401
Cancer (prostate)	GAD: 19267350
Gastrointestinal Diseases	GAD: 19147801
Diabetes	GAD: 18251004
Leber hereditary optic atrophy	KEGG: H00068
Parkinson disease	GAD: 15931342
Alzheimer's disease	GAD: 19758471
Cognitive function	GAD: 19449098
Premature ovarian failure (POF)	GAD: 20680310
Premature ovarian insufficiency (POI)	INFBASE: 26225554
Oocyte maturation	INFBASE: 25605486
Asthenozoospermia	MIK: 23712756
Asthenoozoospermia	MIK: 32167074
Asthenospermia	MIK: 23030649
Asthenospermia	MIK: 23645088
Asthenozoospermia	MIK: 23712756

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
23645088	Asthenospermia	(m.9387 G>A) in COXIII	Tunisia n	166 (66 infertile men suffering from asthenospermia (n=34) in comparison to normospermic infertile men (n=32) and fertile men (n=100))	Male infertility	cytochrome oxidase I cytochrome oxidase II cytochrome oxidase III adenosine triphosphate synthase6 ATP synthase8 and cytochrome b
23712756	Asthenozoospermia	m.6307A>G	Tunisia n	133 (33 normozoospermic infertile men, 100 fertile men)	Male infertility	COXI
23030649	Asthenospermia	m.6375A>G	Tunisia n	166 (34 patients with asthenospermia, 32 normozoospermic infertile men, 100 controls)	Male infertility	COXI COXII and COXIII
32167074	Asthenoozoospermia			12 (6controls, 6 cases)	Male infertility	Microarray