Format

Send to:

Choose Destination

COX5A cytochrome c oxidase subunit 5A [ Homo sapiens (human) ]

Gene ID: 9377, updated on 12-May-2019

Summary

Official Symbol
COX5Aprovided by HGNC
Official Full Name
cytochrome c oxidase subunit 5Aprovided by HGNC
Primary source
HGNC:HGNC:2267
See related
Ensembl:ENSG00000178741 MIM:603773
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
VA; COX; COX-VA
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 gradient across the inner mitochondrial membrane. The complex consists of 13 mitochondrial- and nuclear-encoded subunits. The mitochondrially-encoded subunits perform the electron transfer of proton pumping activities. The functions of the nuclear-encoded subunits are unknown but they may play a role in the regulation and assembly of the complex. This gene encodes the nuclear-encoded subunit Va of the human mitochondrial respiratory chain enzyme. A pseudogene COX5AP1 has been found in chromosome 14q22. [provided by RefSeq, Jul 2008]
Expression
Broad expression in heart (RPKM 144.5), colon (RPKM 144.4) and 25 other tissues See more
Orthologs

Genomic context

See COX5A in Genome Data Viewer
Location:
15q24.2
Exon count:
5
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 15 NC_000015.10 (74920275..74938154, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (75212616..75230495, complement)

Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene secretory carrier membrane protein 2 Neighboring gene mannose phosphate isomerase Neighboring gene family with sequence similarity 219 member B Neighboring gene uncharacterized LOC107984731 Neighboring gene ribonuclease P and MRP subunit p25

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
Genome-wide meta-analysis identifies regions on 7p21 (AHR) and 15q24 (CYP1A2) as determinants of habitual caffeine consumption.
NHGRI GWA Catalog

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Envelope transmembrane glycoprotein gp41 env HIV-1 gp41 is identified to have a physical interaction with cytochrome c oxidase subunit Va (COX5A) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses PubMed
Tat tat Tat-induced mitochondrial membrane permeabilization is associated with inhibition of cytochrome c oxidase (COX) activity by Tat in disrupted mitochondria from human samples PubMed

Go to the HIV-1, Human Interaction Database

Pathways from BioSystems

  • Alzheimer's disease, organism-specific biosystem (from KEGG)
    Alzheimer's disease, organism-specific biosystemAlzheimer's disease (AD) is a chronic disorder that slowly destroys neurons and causes serious cognitive disability. AD is associated with senile plaques and neurofibrillary tangles (NFTs). Amyloid-b...
  • Alzheimer's disease, conserved biosystem (from KEGG)
    Alzheimer's disease, conserved biosystemAlzheimer's disease (AD) is a chronic disorder that slowly destroys neurons and causes serious cognitive disability. AD is associated with senile plaques and neurofibrillary tangles (NFTs). Amyloid-b...
  • Arachidonate Epoxygenase / Epoxide Hydrolase, organism-specific biosystem (from WikiPathways)
    Arachidonate Epoxygenase / Epoxide Hydrolase, organism-specific biosystemThe cytochrome P450-dependent formation of polyunsaturated fatty acid epoxides is an important biochemical pathway creating mediators of inflammation and blood pressure regulation. Once formed these...
  • Cardiac muscle contraction, organism-specific biosystem (from KEGG)
    Cardiac muscle contraction, organism-specific biosystemContraction of the heart is a complex process initiated by the electrical excitation of cardiac myocytes (excitation-contraction coupling, ECC). In cardiac myocytes, Ca2+ influx induced by activation...
  • Cardiac muscle contraction, conserved biosystem (from KEGG)
    Cardiac muscle contraction, conserved biosystemContraction of the heart is a complex process initiated by the electrical excitation of cardiac myocytes (excitation-contraction coupling, ECC). In cardiac myocytes, Ca2+ influx induced by activation...
  • Cytochrome c oxidase, organism-specific biosystem (from KEGG)
    Cytochrome c oxidase, organism-specific biosystemStructural complex; Energy metabolism; ATP synthesis
  • Cytochrome c oxidase, conserved biosystem (from KEGG)
    Cytochrome c oxidase, conserved biosystemStructural complex; Energy metabolism; ATP synthesis
  • Electron Transport Chain, organism-specific biosystem (from WikiPathways)
    Electron Transport Chain, organism-specific biosystemAn electron transport chain(ETC) couples a chemical reaction between an electron donor (such as NADH) and an electron acceptor (such as O2) to the transfer of H+ ions across a membrane, through a set...
  • Gene Expression, organism-specific biosystem (from REACTOME)
    Gene Expression, organism-specific biosystemGene Expression covers the pathways by which genomic DNA is transcribed to yield RNA, the regulation of these transcription processes, and the pathways by which newly-made RNA Transcripts are process...
  • Generic Transcription Pathway, organism-specific biosystem (from REACTOME)
    Generic Transcription Pathway, organism-specific biosystemOVERVIEW OF TRANSCRIPTION REGULATION: Detailed studies of gene transcription regulation in a wide variety of eukaryotic systems has revealed the general principles and mechanisms by which cell- or t...
  • Huntington's disease, organism-specific biosystem (from KEGG)
    Huntington's disease, organism-specific biosystemHuntington disease (HD) is an autosomal-dominant neurodegenerative disorder that primarily affects medium spiny striatal neurons (MSN). The symptoms are choreiform, involuntary movements, personality...
  • Huntington's disease, conserved biosystem (from KEGG)
    Huntington's disease, conserved biosystemHuntington disease (HD) is an autosomal-dominant neurodegenerative disorder that primarily affects medium spiny striatal neurons (MSN). The symptoms are choreiform, involuntary movements, personality...
  • Metabolic pathways, organism-specific biosystem (from KEGG)
    Metabolic pathways, organism-specific biosystem
    Metabolic pathways
  • Metabolism, organism-specific biosystem (from REACTOME)
    Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
  • Non-alcoholic fatty liver disease (NAFLD), organism-specific biosystem (from KEGG)
    Non-alcoholic fatty liver disease (NAFLD), organism-specific biosystemNon-alcoholic fatty liver disease (NAFLD) represents a spectrum ranging from simple steatosis to more severe steatohepatitis with hepatic inflammation and fibrosis, known as nonalcoholic steatohepati...
  • Non-alcoholic fatty liver disease (NAFLD), conserved biosystem (from KEGG)
    Non-alcoholic fatty liver disease (NAFLD), conserved biosystemNon-alcoholic fatty liver disease (NAFLD) represents a spectrum ranging from simple steatosis to more severe steatohepatitis with hepatic inflammation and fibrosis, known as nonalcoholic steatohepati...
  • Oxidative phosphorylation, organism-specific biosystem (from KEGG)
    Oxidative phosphorylation, organism-specific biosystem
    Oxidative phosphorylation
  • Oxidative phosphorylation, conserved biosystem (from KEGG)
    Oxidative phosphorylation, conserved biosystem
    Oxidative phosphorylation
  • Parkinson's disease, organism-specific biosystem (from KEGG)
    Parkinson's disease, organism-specific biosystemParkinson's disease (PD) is a progressive neurodegenerative movement disorder that results primarily from the death of dopaminergic (DA) neurons in the substantia nigra pars compacta (SNc). Mutations...
  • Respiratory electron transport, organism-specific biosystem (from REACTOME)
    Respiratory electron transport, organism-specific biosystemMitochondria are often described as the "powerhouse" of a cell as it is here that energy is largely released from the oxidation of food. Reducing equivalents generated from beta-oxidation of fatty ac...
  • Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins., organism-specific biosystem (from REACTOME)
    Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins., organism-specific biosystemOxidation of fatty acids and pyruvate in the mitochondrial matrix yield large amounts of NADH. The respiratory electron transport chain couples the re-oxidation of this NADH to NAD+ to the export of ...
  • TP53 Regulates Metabolic Genes, organism-specific biosystem (from REACTOME)
    TP53 Regulates Metabolic Genes, organism-specific biosystemWhile the p53 tumor suppressor protein (TP53) is known to inhibit cell growth by inducing apoptosis, senescence and cell cycle arrest, recent studies have found that p53 is also able to influence cel...
  • The citric acid (TCA) cycle and respiratory electron transport, organism-specific biosystem (from REACTOME)
    The citric acid (TCA) cycle and respiratory electron transport, organism-specific biosystemThe metabolism of pyruvate provides one source of acetyl-CoA which enters the citric acid (TCA, tricarboxylic acid) cycle to generate energy and the reducing equivalent NADH. These reducing equivalen...
  • Transcriptional Regulation by TP53, organism-specific biosystem (from REACTOME)
    Transcriptional Regulation by TP53, organism-specific biosystemThe tumor suppressor TP53 (encoded by the gene p53) is a transcription factor. Under stress conditions, it recognizes specific responsive DNA elements and thus regulates the transcription of many gen...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
cytochrome-c oxidase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
electron transfer activity TAS
Traceable Author Statement
more info
PubMed 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
mitochondrial electron transport, cytochrome c to oxygen IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mitochondrial electron transport, cytochrome c to oxygen TAS
Traceable Author Statement
more info
 
proton transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
mitochondrial inner membrane IDA
Inferred from Direct Assay
more info
PubMed 
mitochondrial inner membrane TAS
Traceable Author Statement
more info
 
mitochondrial respiratory chain complex IV IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mitochondrial respiratory chain complex IV IMP
Inferred from Mutant Phenotype
more info
PubMed 

General protein information

Preferred Names
cytochrome c oxidase subunit 5A, mitochondrial
Names
cytochrome c oxidase polypeptide Va
cytochrome c oxidase polypeptide, mitochondrial
cytochrome c oxidase subunit Va
mitochondrial cytochrome c oxidase subunit Va
NP_004246.2

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_004255.4NP_004246.2  cytochrome c oxidase subunit 5A, mitochondrial precursor

    See identical proteins and their annotated locations for NP_004246.2

    Status: REVIEWED

    Source sequence(s)
    AC125435, AI815421, AK026623
    Consensus CDS
    CCDS10273.1
    UniProtKB/Swiss-Prot
    P20674
    Related
    ENSP00000317780.6, ENST00000322347.11
    Conserved Domains (1) summary
    cd00923
    Location:45146
    Cyt_c_Oxidase_Va; Cytochrome c oxidase subunit Va. Cytochrome c oxidase (CcO), the terminal oxidase in the respiratory chains of eukaryotes and most bacteria, is a multi-chain transmembrane protein located in the inner membrane of mitochondria and the cell membrane of ...

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000015.10 Reference GRCh38.p12 Primary Assembly

    Range
    74920275..74938154 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Support Center