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	9377
Gene name	Cytochrome c oxidase subunit 5A
Gene symbol	COX5A
Synonyms (NCBI Gene)	COXCOX-VAMC4DN20VA
Chromosome	15
Chromosome location	15q24.2
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 (80)

miRTarBase ID	miRNA	Experiments	Reference
MIRT050490	hsa-miR-20a-5p	CLASH	23622248
MIRT048508	hsa-miR-100-5p	CLASH	23622248
MIRT043091	hsa-miR-324-5p	CLASH	23622248
MIRT042244	hsa-miR-484	CLASH	23622248
MIRT727966	hsa-miR-26a-5p	HITS-CLIP	22473208
MIRT727965	hsa-miR-26b-5p	HITS-CLIP	22473208
MIRT905383	hsa-miR-1297	CLIP-seq
MIRT905384	hsa-miR-204	CLIP-seq
MIRT905385	hsa-miR-211	CLIP-seq
MIRT905386	hsa-miR-26a	CLIP-seq
MIRT905387	hsa-miR-26b	CLIP-seq
MIRT905388	hsa-miR-377	CLIP-seq
MIRT905389	hsa-miR-3908	CLIP-seq
MIRT905390	hsa-miR-3942-5p	CLIP-seq
MIRT905391	hsa-miR-4446-5p	CLIP-seq
MIRT905392	hsa-miR-4465	CLIP-seq
MIRT905393	hsa-miR-4477a	CLIP-seq
MIRT905394	hsa-miR-4703-5p	CLIP-seq
MIRT905395	hsa-miR-4755-5p	CLIP-seq
MIRT905396	hsa-miR-4766-3p	CLIP-seq
MIRT905397	hsa-miR-562	CLIP-seq
MIRT905398	hsa-miR-623	CLIP-seq
MIRT905383	hsa-miR-1297	CLIP-seq
MIRT905386	hsa-miR-26a	CLIP-seq
MIRT905387	hsa-miR-26b	CLIP-seq
MIRT1968496	hsa-miR-3180-5p	CLIP-seq
MIRT1968497	hsa-miR-3671	CLIP-seq
MIRT905388	hsa-miR-377	CLIP-seq
MIRT905389	hsa-miR-3908	CLIP-seq
MIRT905390	hsa-miR-3942-5p	CLIP-seq
MIRT905392	hsa-miR-4465	CLIP-seq
MIRT1968498	hsa-miR-4517	CLIP-seq
MIRT905394	hsa-miR-4703-5p	CLIP-seq
MIRT905396	hsa-miR-4766-3p	CLIP-seq
MIRT1968499	hsa-miR-548ag	CLIP-seq
MIRT1968500	hsa-miR-548ai	CLIP-seq
MIRT905397	hsa-miR-562	CLIP-seq
MIRT1968501	hsa-miR-607	CLIP-seq
MIRT905383	hsa-miR-1297	CLIP-seq
MIRT2204376	hsa-miR-2110	CLIP-seq
MIRT905386	hsa-miR-26a	CLIP-seq
MIRT905387	hsa-miR-26b	CLIP-seq
MIRT2204377	hsa-miR-3150a-3p	CLIP-seq
MIRT1968496	hsa-miR-3180-5p	CLIP-seq
MIRT2204378	hsa-miR-3189-3p	CLIP-seq
MIRT2204379	hsa-miR-362-5p	CLIP-seq
MIRT905388	hsa-miR-377	CLIP-seq
MIRT905389	hsa-miR-3908	CLIP-seq
MIRT905390	hsa-miR-3942-5p	CLIP-seq
MIRT2204380	hsa-miR-4271	CLIP-seq
MIRT905392	hsa-miR-4465	CLIP-seq
MIRT1968498	hsa-miR-4517	CLIP-seq
MIRT905394	hsa-miR-4703-5p	CLIP-seq
MIRT2204381	hsa-miR-4725-3p	CLIP-seq
MIRT905396	hsa-miR-4766-3p	CLIP-seq
MIRT2204382	hsa-miR-500a	CLIP-seq
MIRT2204383	hsa-miR-500b	CLIP-seq
MIRT905397	hsa-miR-562	CLIP-seq
MIRT2204384	hsa-miR-605	CLIP-seq
MIRT2204385	hsa-miR-671-5p	CLIP-seq
MIRT905383	hsa-miR-1297	CLIP-seq
MIRT2204376	hsa-miR-2110	CLIP-seq
MIRT905386	hsa-miR-26a	CLIP-seq
MIRT905387	hsa-miR-26b	CLIP-seq
MIRT2204377	hsa-miR-3150a-3p	CLIP-seq
MIRT2204378	hsa-miR-3189-3p	CLIP-seq
MIRT2204379	hsa-miR-362-5p	CLIP-seq
MIRT905388	hsa-miR-377	CLIP-seq
MIRT905389	hsa-miR-3908	CLIP-seq
MIRT905390	hsa-miR-3942-5p	CLIP-seq
MIRT2204380	hsa-miR-4271	CLIP-seq
MIRT905392	hsa-miR-4465	CLIP-seq
MIRT905394	hsa-miR-4703-5p	CLIP-seq
MIRT2204381	hsa-miR-4725-3p	CLIP-seq
MIRT905396	hsa-miR-4766-3p	CLIP-seq
MIRT2204382	hsa-miR-500a	CLIP-seq
MIRT2204383	hsa-miR-500b	CLIP-seq
MIRT905397	hsa-miR-562	CLIP-seq
MIRT2204384	hsa-miR-605	CLIP-seq
MIRT2204385	hsa-miR-671-5p	CLIP-seq

Show/Hide all (23)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004129	Function	Cytochrome-c oxidase activity	TAS	2853101
GO:0005515	Function	Protein binding	IPI	25416956, 26759378, 31536960, 32296183, 32814053
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IEA
GO:0005743	Component	Mitochondrial inner membrane	IDA	19393246
GO:0005743	Component	Mitochondrial inner membrane	IEA
GO:0005743	Component	Mitochondrial inner membrane	IEA
GO:0005743	Component	Mitochondrial inner membrane	TAS
GO:0005758	Component	Mitochondrial intermembrane space	TAS
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:0009055	Function	Electron transfer activity	TAS	2853101
GO:0016020	Component	Membrane	IEA
GO:0031966	Component	Mitochondrial membrane	IDA	30030519
GO:0045277	Component	Respiratory chain complex IV	IBA
GO:0045277	Component	Respiratory chain complex IV	IDA	31536960
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:0046872	Function	Metal ion binding	IEA
GO:1902600	Process	Proton transmembrane transport	IEA

MIM	HGNC	e!Ensembl
603773	2267	ENSG00000178741

P20674

Protein name

Cytochrome c oxidase subunit 5A, mitochondrial (Cytochrome c oxidase polypeptide Va)

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
PF02284	COX5A	45 → 147	Cytochrome c oxidase subunit Va	Domain

Sequence

MLGAALRRCAVAATTRADPRGLLHSARTPGPAVAIQSVRCYSHGSQETDEEFDARWVTYF
NKPDIDAWELRKGINTLVTYDMVPEPKIIDAALRACRRLNDFASTVRILEVVKDKAGPHK
EIYPYVIQELRPTLNELGISTPEELGLDKV

Sequence length

150

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 (1)

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 20	Pathogenic	rs142618460, rs2065346374	RCV003890775 RCV001255880

Show/Hide Unknown Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
COX5A-related disorder	Likely benign	rs200367305	RCV003905883

Show/Hide Text Mining Associations (17)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Abruptio Placentae	Associate	30194050
Acute Disease	Associate	39596565
Adenocarcinoma of Lung	Associate	22748147
Alzheimer Disease	Associate	35432724
Breast Neoplasms	Associate	37510369
Carcinoma Non Small Cell Lung	Associate	22748147
Colitis Ulcerative	Associate	37090740
Colorectal Neoplasms	Associate	38378070
Diabetes Mellitus	Associate	29751399
Hypersensitivity Immediate	Associate	27666594
Leigh Disease	Associate	22465034
Lymphatic Metastasis	Associate	22748147
Mitochondrial complex I deficiency	Associate	27666594
Neoplasm Metastasis	Associate	22748147, 23217164
Neoplasms	Associate	22748147, 36142793
Niemann Pick Disease Type C	Associate	23217164
Primary Ovarian Insufficiency	Associate	37460774

COX5A (cytochrome c oxidase subunit 5A)