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

    Gene ID: 1340, updated on 26-Nov-2024

    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; AllianceGenome:HGNC:2280
    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; MC4DN7; 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
    NEW
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    Genomic context

    See COX6B1 in Genome Data Viewer
    Location:
    19q13.12
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (35648323..35658782)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (38193302..38203762)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (36139225..36149684)

    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 H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:36132803-36133518 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10530 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10531 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14489 Neighboring gene ETS variant transcription factor 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14490 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14491 Neighboring gene UPK1A antisense RNA 1 Neighboring gene uroplakin 1A Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:36174493-36174994 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 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)

    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.

    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
      B2R5C9, P14854, Q6IBL4
      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: 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_000019.10 Reference GRCh38.p14 Primary Assembly

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

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      38193302..38203762
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)