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COX6B1 cytochrome c oxidase subunit 6B1 [ Homo sapiens (human) ]

Gene ID: 1340, updated on 18-Aug-2020

Summary

Official Symbol
COX6B1provided by HGNC
Official Full Name
cytochrome c oxidase subunit 6B1provided by HGNC
Primary source
HGNC:HGNC:2280
See related
Ensembl:ENSG00000126267 MIM:124089
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
COXG; COX6B; COXVIb1
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 electron transfer, and the nuclear-encoded subunits may be involved in the regulation and assembly of the complex. This nuclear gene encodes subunit VIb. Mutations in this gene are associated with severe infantile encephalomyopathy. Three pseudogenes COX6BP-1, COX6BP-2 and COX6BP-3 have been found on chromosomes 7, 17 and 22q13.1-13.2, respectively. [provided by RefSeq, Jan 2010]
Expression
Ubiquitous expression in heart (RPKM 214.0), colon (RPKM 139.3) and 25 other tissues See more
Orthologs

Genomic context

See COX6B1 in Genome Data Viewer
Location:
19q13.12
Exon count:
4
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 19 NC_000019.10 (35648323..35658782)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (36139125..36149686)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 5913 Neighboring gene RNA binding motif protein 42 Neighboring gene ETS variant transcription factor 2 Neighboring gene UPK1A antisense RNA 1 Neighboring gene uroplakin 1A Neighboring gene thymidylate synthetase pseudogene 2

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

Replication interactions

Interaction Pubs
HIV-1 subtype C Env gp120 induces COX6B1 (cytochrome C) release in cardiomyocytes and it is inhibited with the HIV-1 neutralizing aptamer UCLA1 PubMed

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 VIb polypeptide 1 (COX6B1) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses PubMed
Tat tat HIV-1 Tat downregulates BCL2 and upregulates BAX and COX6B1 (cytochrome c), which induces apoptosis of Human Brain Microvascular Endothelial Cells (HBMECs) PubMed
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

Gene Ontology Provided by GOA

Function Evidence Code Pubs
cytochrome-c oxidase activity NAS
Non-traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
mitochondrial inner membrane TAS
Traceable Author Statement
more info
 
mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
respiratory chain complex IV IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
cytochrome c oxidase subunit 6B1
Names
COX VIb-1
cytochrome c oxidase subunit VIb polypeptide 1 (ubiquitous)
NP_001854.1

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_012193.1 RefSeqGene

    Range
    5071..15530
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_1246

mRNA and Protein(s)

  1. NM_001863.5NP_001854.1  cytochrome c oxidase subunit 6B1

    See identical proteins and their annotated locations for NP_001854.1

    Status: REVIEWED

    Source sequence(s)
    BC001015
    Consensus CDS
    CCDS12469.1
    UniProtKB/Swiss-Prot
    P14854
    Related
    ENSP00000497926.1, ENST00000649813.2
    Conserved Domains (1) summary
    cd00926
    Location:885
    Cyt_c_Oxidase_VIb; Cytochrome c oxidase subunit VIb. 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_000019.10 Reference GRCh38.p13 Primary Assembly

    Range
    35648323..35658782
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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