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

    Gene ID: 9377, updated on 9-Dec-2024

    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; AllianceGenome:HGNC:2267
    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; MC4DN20
    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
    NEW
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    Genomic context

    See COX5A in Genome Data Viewer
    Location:
    15q24.2
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (74919791..74938073, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (72789676..72807970, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (75212132..75230414, complement)

    Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9809 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9810 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9811 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9812 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9813 Neighboring gene secretory carrier membrane protein 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9814 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:75157901-75158832 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:75161878-75162388 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:75162904-75163889 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9815 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:75182299-75182832 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:75191053-75191552 Neighboring gene H3K27ac hESC enhancer GRCh37_chr15:75197802-75198608 Neighboring gene H3K27ac hESC enhancer GRCh37_chr15:75198609-75199413 Neighboring gene family with sequence similarity 219 member B Neighboring gene mannose phosphate isomerase Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6661 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9819 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:75246929-75247862 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:75247863-75248796 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:75248797-75249730 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:75250725-75251281 Neighboring gene ribonuclease P and MRP subunit p25 Neighboring gene secretory carrier membrane protein 5

    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 Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Mitochondrial complex 4 deficiency, nuclear type 20
    MedGen: C5436726 OMIM: 619064 GeneReviews: Not available
    not available

    EBI GWAS Catalog

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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables cytochrome-c oxidase activity TAS
    Traceable Author Statement
    more info
    PubMed 
    enables electron transfer activity TAS
    Traceable Author Statement
    more info
    PubMed 
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in cellular respiration NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in mitochondrial electron transport, cytochrome c to oxygen IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in mitochondrial electron transport, cytochrome c to oxygen NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in proton transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
     

    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)

    NEW Try the new Transcript table

    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, P30045, Q8TB65
      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: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000015.10 Reference GRCh38.p14 Primary Assembly

      Range
      74919791..74938073 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060939.1 Alternate T2T-CHM13v2.0

      Range
      72789676..72807970 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)