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COX7A2 cytochrome c oxidase subunit 7A2 [ Homo sapiens (human) ]

Gene ID: 1347, updated on 26-May-2016
Official Symbol
COX7A2provided by HGNC
Official Full Name
cytochrome c oxidase subunit 7A2provided by HGNC
Primary source
HGNC:HGNC:2288
See related
Ensembl:ENSG00000112695 HPRD:00482; MIM:123996; Vega:OTTHUMG00000015049
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
VIIAL; COX7AL; COX7AL1; COXVIIAL; COXVIIa-L
Summary
Cytochrome c oxidase, the terminal component of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. This component is a heteromeric complex consisting of three catalytic subunits encoded by mitochondrial genes, and multiple structural subunits encoded by nuclear genes. The mitochondrially-encoded subunits function in electron transfer, while the nuclear-encoded subunits may function in the regulation and assembly of the complex. This nuclear gene encodes polypeptide 2 (liver isoform) of subunit VIIa, with this polypeptide being present in both muscle and non-muscle tissues. In addition to polypeptide 2, subunit VIIa includes polypeptide 1 (muscle isoform), which is present only in muscle tissues, and a related protein, which is present in all tissues. Alternative splicing results in multiple transcript variants. Related pseudogenes have been identified on chromosomes 4 and 14. [provided by RefSeq, Oct 2009]
Orthologs
Location:
6q12
Exon count:
5
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 6 NC_000006.12 (75237675..75254885, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (75947391..75953644, complement)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene nucleoporin 50kDa pseudogene Neighboring gene collagen type XII alpha 1 chain Neighboring gene uncharacterized LOC100506804 Neighboring gene transmembrane protein 30A Neighboring gene filamin A interacting protein 1 Neighboring gene high mobility group box 1 pseudogene 39

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Protein interactions

Protein Gene Interaction Pubs
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

  • 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...
  • 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...
  • 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...
  • 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...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • MGC118950, MGC118951, MGC118952, MGC126875, MGC126877

Gene Ontology Provided by GOA

Function Evidence Code Pubs
cytochrome-c oxidase activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
hydrogen ion transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
extracellular exosome IDA
Inferred from Direct Assay
more info
PubMed 
mitochondrial respiratory chain IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
cytochrome c oxidase subunit 7A2, mitochondrial
Names
cytochrome c oxidase polypeptide 7A2, mitochondrial
cytochrome c oxidase polypeptide VIIa-liver/heart
cytochrome c oxidase subunit VIIa polypeptide 2 (liver)
cytochrome c oxidase subunit VIIa-L
cytochrome c oxidase subunit VIIa-liver/heart
cytochrome c oxidase subunit VIIaL
hepatic cytochrome-c oxidase chain VIIa
NP_001856.2

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_001865.3NP_001856.2  cytochrome c oxidase subunit 7A2, mitochondrial precursor

    See identical proteins and their annotated locations for NP_001856.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the shorter transcript but encodes the functional protein.
    Source sequence(s)
    AA978033, BC101826, CK821341
    Consensus CDS
    CCDS34486.2
    UniProtKB/Swiss-Prot
    P14406
    UniProtKB/TrEMBL
    H0UI06
    Related
    ENSP00000359106, OTTHUMP00000016750, ENST00000370089, OTTHUMT00000041243
    Conserved Domains (1) summary
    cd00928
    Location:56110
    Cyt_c_Oxidase_VIIa; Cytochrome c oxidase subunit VIIa. 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 ...

RNA

  1. NR_029466.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate splice site in an internal exon, compared to variant 1. This variant is represented as non-coding because the use of the supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AA978033, CB139775, CK821341

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p2 Primary Assembly

    Range
    75237675..75254885 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011535446.1XP_011533748.1  

    See identical proteins and their annotated locations for XP_011533748.1

    UniProtKB/TrEMBL
    H0UI06
    Related
    ENSP00000359098, OTTHUMP00000016749, ENST00000370081, OTTHUMT00000041242
    Conserved Domains (1) summary
    cd00928
    Location:56110
    Cyt_c_Oxidase_VIIa; Cytochrome c oxidase subunit VIIa. 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 ...
  2. XM_011535445.1XP_011533747.1  

    See identical proteins and their annotated locations for XP_011533747.1

    UniProtKB/TrEMBL
    H0UI06
    Conserved Domains (1) summary
    cd00928
    Location:56110
    Cyt_c_Oxidase_VIIa; Cytochrome c oxidase subunit VIIa. 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 ...

Alternate CHM1_1.1

Genomic

  1. NC_018917.2 Alternate CHM1_1.1

    Range
    76113807..76120050 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)