Gene Gene information from NCBI Gene database. Download as csv Download as pdf
Entrez ID	1327
Gene name	Cytochrome c oxidase subunit 4I1
Gene symbol	COX4I1
Synonyms (NCBI Gene)	COX IV-1COX4COX4-1COXIVCOXIV-1MC4DN16
Chromosome	16
Chromosome location	16q24.1
Summary	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

73 Show/Hide all (73)

miRTarBase ID	miRNA	Experiments	Reference
MIRT049222	hsa-miR-92a-3p	CLASH	23622248
MIRT905277	hsa-miR-1271	CLIP-seq
MIRT905278	hsa-miR-145	CLIP-seq
MIRT905279	hsa-miR-182	CLIP-seq
MIRT905280	hsa-miR-1972	CLIP-seq
MIRT905281	hsa-miR-3121-3p	CLIP-seq
MIRT905282	hsa-miR-3180-5p	CLIP-seq
MIRT905283	hsa-miR-338-3p	CLIP-seq
MIRT905284	hsa-miR-3622b-5p	CLIP-seq
MIRT905285	hsa-miR-3665	CLIP-seq
MIRT905286	hsa-miR-4274	CLIP-seq
MIRT905287	hsa-miR-4519	CLIP-seq
MIRT905288	hsa-miR-452	CLIP-seq
MIRT905289	hsa-miR-4524	CLIP-seq
MIRT905290	hsa-miR-4642	CLIP-seq
MIRT905291	hsa-miR-4653-3p	CLIP-seq
MIRT905292	hsa-miR-4676-3p	CLIP-seq
MIRT905293	hsa-miR-4712-5p	CLIP-seq
MIRT905294	hsa-miR-4729	CLIP-seq
MIRT905295	hsa-miR-4755-3p	CLIP-seq
MIRT905296	hsa-miR-542-3p	CLIP-seq
MIRT905297	hsa-miR-548g	CLIP-seq
MIRT905298	hsa-miR-582-3p	CLIP-seq
MIRT905299	hsa-miR-764	CLIP-seq
MIRT905300	hsa-miR-770-5p	CLIP-seq
MIRT905301	hsa-miR-96	CLIP-seq
MIRT905277	hsa-miR-1271	CLIP-seq
MIRT905278	hsa-miR-145	CLIP-seq
MIRT905279	hsa-miR-182	CLIP-seq
MIRT905281	hsa-miR-3121-3p	CLIP-seq
MIRT905282	hsa-miR-3180-5p	CLIP-seq
MIRT905284	hsa-miR-3622b-5p	CLIP-seq
MIRT905285	hsa-miR-3665	CLIP-seq
MIRT905286	hsa-miR-4274	CLIP-seq
MIRT905287	hsa-miR-4519	CLIP-seq
MIRT905288	hsa-miR-452	CLIP-seq
MIRT905289	hsa-miR-4524	CLIP-seq
MIRT905290	hsa-miR-4642	CLIP-seq
MIRT905291	hsa-miR-4653-3p	CLIP-seq
MIRT905292	hsa-miR-4676-3p	CLIP-seq
MIRT905293	hsa-miR-4712-5p	CLIP-seq
MIRT905294	hsa-miR-4729	CLIP-seq
MIRT905295	hsa-miR-4755-3p	CLIP-seq
MIRT905296	hsa-miR-542-3p	CLIP-seq
MIRT905297	hsa-miR-548g	CLIP-seq
MIRT905298	hsa-miR-582-3p	CLIP-seq
MIRT905299	hsa-miR-764	CLIP-seq
MIRT905300	hsa-miR-770-5p	CLIP-seq
MIRT905301	hsa-miR-96	CLIP-seq
MIRT905277	hsa-miR-1271	CLIP-seq
MIRT905278	hsa-miR-145	CLIP-seq
MIRT905279	hsa-miR-182	CLIP-seq
MIRT905281	hsa-miR-3121-3p	CLIP-seq
MIRT905282	hsa-miR-3180-5p	CLIP-seq
MIRT905284	hsa-miR-3622b-5p	CLIP-seq
MIRT905286	hsa-miR-4274	CLIP-seq
MIRT905287	hsa-miR-4519	CLIP-seq
MIRT905288	hsa-miR-452	CLIP-seq
MIRT905289	hsa-miR-4524	CLIP-seq
MIRT905290	hsa-miR-4642	CLIP-seq
MIRT905291	hsa-miR-4653-3p	CLIP-seq
MIRT905292	hsa-miR-4676-3p	CLIP-seq
MIRT905293	hsa-miR-4712-5p	CLIP-seq
MIRT905294	hsa-miR-4729	CLIP-seq
MIRT905296	hsa-miR-542-3p	CLIP-seq
MIRT905297	hsa-miR-548g	CLIP-seq
MIRT905298	hsa-miR-582-3p	CLIP-seq
MIRT905300	hsa-miR-770-5p	CLIP-seq
MIRT905301	hsa-miR-96	CLIP-seq
MIRT905286	hsa-miR-4274	CLIP-seq
MIRT905287	hsa-miR-4519	CLIP-seq
MIRT905289	hsa-miR-4524	CLIP-seq
MIRT905294	hsa-miR-4729	CLIP-seq

28 Show/Hide all (28)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004129	Function	Cytochrome-c oxidase activity	TAS	2157630
GO:0005515	Function	Protein binding	IPI	23260140, 25416956, 26321642, 26759378, 28514442, 31515488, 32814053, 33961781
GO:0005654	Component	Nucleoplasm	IDA
GO:0005739	Component	Mitochondrion	HDA	20833797
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IDA	15565177, 26746385
GO:0005739	Component	Mitochondrion	IEA
GO:0005743	Component	Mitochondrial inner membrane	IEA
GO:0005743	Component	Mitochondrial inner membrane	ISS
GO:0005743	Component	Mitochondrial inner membrane	TAS
GO:0005758	Component	Mitochondrial intermembrane space	IEA
GO:0005758	Component	Mitochondrial intermembrane space	TAS
GO:0005829	Component	Cytosol	IEA
GO:0006091	Process	Generation of precursor metabolites and energy	TAS	2157630
GO:0006119	Process	Oxidative phosphorylation	IEA
GO:0006123	Process	Mitochondrial electron transport, cytochrome c to oxygen	IBA
GO:0006123	Process	Mitochondrial electron transport, cytochrome c to oxygen	IEA
GO:0006123	Process	Mitochondrial electron transport, cytochrome c to oxygen	NAS	30030519
GO:0007584	Process	Response to nutrient	IEA
GO:0016020	Component	Membrane	HDA	19946888
GO:0016020	Component	Membrane	IEA
GO:0031966	Component	Mitochondrial membrane	IDA	30030519
GO:0031966	Component	Mitochondrial membrane	IEA
GO:0045277	Component	Respiratory chain complex IV	IBA
GO:0045277	Component	Respiratory chain complex IV	IEA
GO:0045277	Component	Respiratory chain complex IV	IMP	19393246
GO:0045333	Process	Cellular respiration	NAS	30030519
GO:1902600	Process	Proton transmembrane transport	IEA

MIM	HGNC	e!Ensembl
123864	2265	ENSG00000131143

P13073

Protein name

Cytochrome c oxidase subunit 4 isoform 1, mitochondrial (Cytochrome c oxidase polypeptide IV) (Cytochrome c oxidase subunit IV isoform 1) (COX IV-1)

Protein function

Component of the cytochrome c oxidase, the last enzyme in the mitochondrial electron transport chain which drives oxidative phosphorylation. The respiratory chain contains 3 multisubunit complexes succinate dehydrogenase (complex II, CII), ubiqu

PDB

5Z62

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF02936	COX4	30 → 168	Cytochrome c oxidase subunit IV	Family

Tissue specificity

TISSUE SPECIFICITY: Ubiquitous.

Sequence

MLATRVFSLVGKRAISTSVCVRAHESVVKSEDFSLPAYMDRRDHPLPEVAHVKHLSASQK
ALKEKEKASWSSLSMDEKVELYRIKFKESFAEMNRGSNEWKTVVGGAMFFIGFTALVIMW
QKHYVYGPLPQSFDKEWVAKQTKRMLDMKVNPIQGLASKWDYEKNEWKK

Sequence length

169

Interactions

View interactions

KEGG Pathway	Reactome Pathway
Oxidative phosphorylation	TP53 Regulates Metabolic Genes
Metabolic pathways	Respiratory electron transport
Cardiac muscle contraction
Thermogenesis
Non-alcoholic fatty liver disease
Alzheimer disease
Parkinson disease
Amyotrophic lateral sclerosis
Huntington disease
Prion disease
Pathways of neurodegeneration - multiple diseases
Chemical carcinogenesis - reactive oxygen species
Diabetic cardiomyopathy

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Mitochondrial complex IV deficiency, nuclear type 1	Pathogenic	rs1906146144	RCV001034697	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Mitochondrial complex IV deficiency, nuclear type 16	Pathogenic	rs1906247824	RCV001034698	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
COX4I1-related disorder	Likely benign; Benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CYTOCHROME-C OXIDASE DEFICIENCY DISEASE	—	GWAS catalog	31290619	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEIGH SYNDROME	—	ClinGen, GWAS catalog	18853439, 28593021, 31127358, 31290619	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MITOCHONDRIAL DISEASE	—	ClinGen, GWAS catalog	28766551, 30030519, 31290619, 32075102, 33578848, 33672589	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MITOCHONDRIAL DISEASES	—	Disgenet, ClinGen	ClinGen report	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining Show/Hide Text Mining Associations (47)
Adrenocortical Carcinoma	Adrenocortical carcinoma	Pubtator	33776902	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	Pubtator	29886046	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Asthenozoospermia	Asthenozoospermia	Pubtator	31268247	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial fibrillation	Pubtator	38149324	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Atrophy	Atrophy	Pubtator	40095452	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Bone Marrow Failure Disorders	Bone marrow failure syndromes	Pubtator	35456968	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Brain Diseases	Brain disease	Pubtator	31290619	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	25270118		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Familial Idiopathic	Cardiomyopathy	BEFREE	30223867		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Abnormalities	Congenital abnormalities	Pubtator	28766551, 31290619	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	Pubtator	31979197	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cytochrome c Oxidase Deficiency	Cytochrome c oxidase deficiency	Pubtator	29396562, 35456968	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cytochrome-c Oxidase Deficiency	Cytochrome-C Oxidase Deficiency	BEFREE	20812865		★★★★★ ★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	25869607		★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental regression	Developmental regression	BEFREE	31290619		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	25869607, 28730835		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	BEFREE	28766551, 31290619		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysmorphic features	Dysmorphic Features	BEFREE	28766551		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	40095452	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Fanconi Anemia	Fanconi Anemia	BEFREE	28766551, 29886046, 31290619		★★★★★ ★☆☆☆☆ Found in Text Mining only
Fanconi Anemia	Fanconi anemia	Pubtator	28766551, 29396562, 29886046, 31290619, 35456968, 40095452	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)	Anemia	BEFREE	28766551, 29886046, 31290619		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	28455961		★★★★★ ★☆☆☆☆ Found in Text Mining only
Growth Disorders	Growth disorder	Pubtator	28766551, 31290619, 35456968, 40095452	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	BEFREE	31184310		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	31679456		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	37927240	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	31290619, 40095452	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Isolated cytochrome C oxidase deficiency	Isolated Cytochrome C Oxidase Deficiency	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Leigh Disease	Leigh Syndrome	BEFREE	31290619		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leigh Disease	Leigh syndrome	Pubtator	31290619	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leprosy	Leprosy	GWASCAT_DG	25642632		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Diseases Interstitial	Lung disease	Pubtator	30940853	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	25270118		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	BEFREE	25869607		★★★★★ ★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome X	Metabolic Syndrome	BEFREE	25869607		★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	Pubtator	40095452	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	18332166, 25844556, 28766551, 29396562, 33578848	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mitochondrial Diseases	Mitochondrial Diseases	GENOMICS_ENGLAND_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myocardial Ischemia	Myocardial Ischemia	BEFREE	30744415		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	BEFREE	10912924		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	29762853		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nervous System Diseases	Nervous system disease	Pubtator	40095452	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	20200320, 25869607		★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	28730835	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	36012230	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Seizures	Seizures	Pubtator	31290619, 40095452	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathways	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
COX8A	4	["Cytochrome c oxidase deficiency","Leigh syndrome","Mitochondrial complex deficiency","Mitochondrial disease"]	10	["Oxidative phosphorylation","Cardiac muscle contraction","Thermogenesis","Non-alcoholic fatty liver disease","Parkinson disease","Prion disease","Chemical carcinogenesis - reactive oxygen species","Diabetic cardiomyopathy","TP53 Regulates Metabolic Genes","Respiratory electron transport"]	10	["GWAS catalog (Cytochrome c oxidase deficiency)","ClinGen (Leigh syndrome)","GWAS catalog (Leigh syndrome)","ClinVar (Mitochondrial complex deficiency)","Disgenet (Mitochondrial complex deficiency)","GenCC (Mitochondrial complex deficiency)","HPO (Mitochondrial complex deficiency)","ClinGen (Mitochondrial disease)","GWAS catalog (Mitochondrial disease)","Disgenet (Mitochondrial disease)"]
COX6B1	3	["Cytochrome c oxidase deficiency","Mitochondrial complex deficiency","Mitochondrial disease"]	10	["Oxidative phosphorylation","Cardiac muscle contraction","Thermogenesis","Non-alcoholic fatty liver disease","Parkinson disease","Prion disease","Chemical carcinogenesis - reactive oxygen species","Diabetic cardiomyopathy","TP53 Regulates Metabolic Genes","Respiratory electron transport"]	8	["GWAS catalog (Cytochrome c oxidase deficiency)","ClinVar (Mitochondrial complex deficiency)","Disgenet (Mitochondrial complex deficiency)","GenCC (Mitochondrial complex deficiency)","HPO (Mitochondrial complex deficiency)","ClinGen (Mitochondrial disease)","GWAS catalog (Mitochondrial disease)","Disgenet (Mitochondrial disease)"]
COX6A2	3	["Cytochrome c oxidase deficiency","Mitochondrial complex deficiency","Mitochondrial disease"]	8	["Oxidative phosphorylation","Cardiac muscle contraction","Thermogenesis","Non-alcoholic fatty liver disease","Parkinson disease","Prion disease","Chemical carcinogenesis - reactive oxygen species","Diabetic cardiomyopathy"]	8	["GWAS catalog (Cytochrome c oxidase deficiency)","ClinVar (Mitochondrial complex deficiency)","Disgenet (Mitochondrial complex deficiency)","GenCC (Mitochondrial complex deficiency)","HPO (Mitochondrial complex deficiency)","ClinGen (Mitochondrial disease)","GWAS catalog (Mitochondrial disease)","Disgenet (Mitochondrial disease)"]
COX5A	3	["Cytochrome c oxidase deficiency","Mitochondrial complex deficiency","Mitochondrial disease"]	10	["Oxidative phosphorylation","Cardiac muscle contraction","Thermogenesis","Non-alcoholic fatty liver disease","Parkinson disease","Prion disease","Chemical carcinogenesis - reactive oxygen species","Diabetic cardiomyopathy","TP53 Regulates Metabolic Genes","Respiratory electron transport"]	6	["GWAS catalog (Cytochrome c oxidase deficiency)","ClinVar (Mitochondrial complex deficiency)","Disgenet (Mitochondrial complex deficiency)","GenCC (Mitochondrial complex deficiency)","HPO (Mitochondrial complex deficiency)","ClinGen (Mitochondrial disease)"]
UQCRQ	3	["Leigh syndrome","Mitochondrial complex deficiency","Mitochondrial disease"]	9	["Oxidative phosphorylation","Cardiac muscle contraction","Thermogenesis","Non-alcoholic fatty liver disease","Parkinson disease","Prion disease","Chemical carcinogenesis - reactive oxygen species","Diabetic cardiomyopathy","Respiratory electron transport"]	6	["ClinGen (Leigh syndrome)","ClinVar (Mitochondrial complex deficiency)","Disgenet (Mitochondrial complex deficiency)","GenCC (Mitochondrial complex deficiency)","HPO (Mitochondrial complex deficiency)","ClinGen (Mitochondrial disease)"]

COX4I1 (cytochrome c oxidase subunit 4I1)

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