Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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

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

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		Reactome
	Oxidative phosphorylation Metabolic pathways 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		TP53 Regulates Metabolic Genes Respiratory electron transport

Show/Hide Causal Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Mitochondrial complex IV deficiency, nuclear type 1	Pathogenic	rs1906146144	RCV001034697
Mitochondrial complex IV deficiency, nuclear type 16	Pathogenic	rs1906247824	RCV001034698

Show/Hide Unknown Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
COX4I1-related disorder	Likely benign; Benign	rs750829937, rs11557187, rs184745241, rs4885, rs755549888	RCV003896809 RCV003982367 RCV003961395 RCV003970828 RCV003975544

Show/Hide Text Mining Associations (34)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Adrenal Insufficiency	Associate	30223867
Adrenocortical Carcinoma	Associate	33776902
Anemia	Associate	29886046
Anorchia	Associate	31290619
Asthenozoospermia	Associate	31268247
Atrial Fibrillation	Associate	38149324
Atrophy	Associate	40095452
Bone Marrow Failure Disorders	Associate	35456968
Brain Diseases	Associate	31290619
Chromosome Breakage	Associate	29886046
Chronic Kidney Disease Mineral and Bone Disorder	Stimulate	19698090
Congenital Abnormalities	Associate	28766551, 31290619
Coronary Artery Disease	Inhibit	31979197
Cytochrome c Oxidase Deficiency	Associate	29396562, 35456968
Epilepsy	Associate	40095452
Fanconi Anemia	Associate	28766551, 29396562, 29886046, 31290619, 35456968, 40095452
Genetic Diseases Inborn	Associate	40095452
Growth Disorders	Associate	28766551, 31290619, 35456968, 40095452
Hypoxia	Stimulate	37927240
Immunologic Deficiency Syndromes	Stimulate	31290619
Immunologic Deficiency Syndromes	Inhibit	40095452
Intellectual Disability	Associate	31290619, 40095452
Leigh Disease	Associate	31290619
Lung Diseases Interstitial	Associate	30940853
Microcephaly	Associate	40095452
Mitochondrial Diseases	Associate	18332166, 25844556, 28766551, 29396562, 33578848
Mitochondrial Myopathy with a Defect in Mitochondrial Protein Transport	Associate	33578848
Muscle Hypotonia	Associate	40095452
Neoplasms	Associate	37927240
Nervous System Diseases	Associate	40095452
Obesity	Associate	28730835
Ovarian Neoplasms	Associate	36012230
Seizures	Associate	31290619, 40095452
Weight Gain	Associate	28766551, 31290619, 40095452

COX4I1 (cytochrome c oxidase subunit 4I1)