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COX6A1 cytochrome c oxidase subunit 6A1 [ Homo sapiens (human) ]

Gene ID: 1337, updated on 4-Oct-2020

Summary

Official Symbol
COX6A1provided by HGNC
Official Full Name
cytochrome c oxidase subunit 6A1provided by HGNC
Primary source
HGNC:HGNC:2277
See related
Ensembl:ENSG00000111775 MIM:602072
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
COX6A; CMTRID; COX6AL
Summary
Cytochrome c oxidase (COX), the terminal enzyme of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. It is a heteromeric complex consisting of 3 catalytic subunits encoded by mitochondrial genes and multiple structural subunits encoded by nuclear genes. The mitochondrially-encoded subunits function in the electron transfer and the nuclear-encoded subunits may function in the regulation and assembly of the complex. This nuclear gene encodes polypeptide 1 (liver isoform) of subunit VIa, and polypeptide 1 is found in all non-muscle tissues. Polypeptide 2 (heart/muscle isoform) of subunit VIa is encoded by a different gene, and is present only in striated muscles. These two polypeptides share 66% amino acid sequence identity. It has been reported that there may be several pseudogenes on chromosomes 1, 6, 7q21, 7q31-32 and 12. However, only one pseudogene (COX6A1P) on chromosome 1p31.1 has been documented. [provided by RefSeq, Jul 2008]
Expression
Ubiquitous expression in colon (RPKM 215.0), duodenum (RPKM 185.5) and 25 other tissues See more
Orthologs

Genomic context

See COX6A1 in Genome Data Viewer
Location:
12q24.31; 12q24.2
Exon count:
3
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 12 NC_000012.12 (120438113..120440730)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (120875893..120878545)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene musashi RNA binding protein 1 Neighboring gene ribosomal protein S27 pseudogene 25 Neighboring gene Sharpr-MPRA regulatory region 3971 Neighboring gene TP53 regulated inhibitor of apoptosis 1 Neighboring gene ribosomal protein L31 pseudogene 52 Neighboring gene glutamyl-tRNA amidotransferase subunit C

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?

HIV-1 interactions

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC104500

Gene Ontology Provided by GOA

Function Evidence Code Pubs
contributes_to cytochrome-c oxidase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enzyme regulator activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
aerobic respiration IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
generation of precursor metabolites and energy TAS
Traceable Author Statement
more info
PubMed 
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
 
regulation of catalytic activity IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
mitochondrial inner membrane TAS
Traceable Author Statement
more info
 
mitochondrial respiratory chain complex IV IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mitochondrion IDA
Inferred from Direct Assay
more info
 

General protein information

Preferred Names
cytochrome c oxidase subunit 6A1, mitochondrial
Names
COX VIa-L
cytochrome C oxidase subunit VIa homolog
cytochrome c oxidase polypeptide VIa-liver
cytochrome c oxidase subunit VIA-liver
cytochrome c oxidase subunit VIa polypeptide 1
NP_004364.2

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.

Genomic

  1. NG_034299.1 RefSeqGene

    Range
    5024..7641
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_004373.4NP_004364.2  cytochrome c oxidase subunit 6A1, mitochondrial

    See identical proteins and their annotated locations for NP_004364.2

    Status: REVIEWED

    Source sequence(s)
    AK312009, BC107861
    Consensus CDS
    CCDS9197.1
    UniProtKB/Swiss-Prot
    P12074
    UniProtKB/TrEMBL
    H6SG15
    Related
    ENSP00000229379.2, ENST00000229379.3
    Conserved Domains (1) summary
    cd00925
    Location:22107
    Cyt_c_Oxidase_VIa; Cytochrome c oxidase subunit VIa. 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 Updated Annotation Release 109.20200815

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p13 Primary Assembly

    Range
    120438113..120440730
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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