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    COX6C cytochrome c oxidase subunit 6C [ Homo sapiens (human) ]

    Gene ID: 1345, updated on 5-Mar-2024

    Summary

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    Official Symbol
    COX6Cprovided by HGNC
    Official Full Name
    cytochrome c oxidase subunit 6Cprovided by HGNC
    Primary source
    HGNC:HGNC:2285
    See related
    Ensembl:ENSG00000164919 MIM:124090; AllianceGenome:HGNC:2285
    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
    Summary
    Cytochrome c oxidase, 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 VIc, which has 77% amino acid sequence identity with mouse subunit VIc. This gene is up-regulated in prostate cancer cells. A pseudogene has been found on chromosomes 16p12. [provided by RefSeq, Jul 2010]
    Expression
    Ubiquitous expression in heart (RPKM 104.1), colon (RPKM 92.2) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    8q22.2
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (99877865..99893707, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (101002824..101018666, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (100890093..100905935, complement)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene vacuolar protein sorting 13 homolog B Neighboring gene uncharacterized LOC124901989 Neighboring gene VISTA enhancer hs909 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr8:100782591-100783790 Neighboring gene leucine zipper and EF-hand containing transmembrane protein 1 pseudogene 3 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:100871617-100872116 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:100880771-100881278 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:100883624-100884124 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:100904777-100905425 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:100905426-100906073 Neighboring gene MPRA-validated peak7123 silencer Neighboring gene ReSE screen-validated silencer GRCh37_chr8:100947244-100947479 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr8:100955411-100956610 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:100959374-100959874 Neighboring gene small nucleolar RNA, C/D box 77B Neighboring gene regulator of G protein signaling 22 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27684 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19407 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19408 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:101162699-101163202 Neighboring gene F-box protein 43

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. Decreased brain protein levels of cytochrome oxidase subunits in Alzheimer's disease and in hereditary spinocerebellar ataxia disorders: a nonspecific change? Kish SJ, et al. J Neurochem, 1999 Feb. PMID 9930743
    2. Two differentially expressed genes in normal human prostate tissue and in carcinoma. Wang FL, et al. Cancer Res, 1996 Aug 15. PMID 8705997
    3. Nucleotide sequence of cDNA encoding human cytochrome c oxidase subunit VIc. Otsuka M, et al. Nucleic Acids Res, 1988 Nov 25. PMID 2849755, Free PMC Article
    4. Specific intron-dependent loading of DAZAP1 onto the cox6c transcript suppresses pre-mRNA splicing efficacy and induces cell growth retardation. Sasaki K, et al. Gene, 2018 May 30. PMID 29505834
    5. Lung epithelial cells resist influenza A infection by inducing the expression of cytochrome c oxidase VIc which is modulated by miRNA 4276. Othumpangat S, et al. Virology, 2014 Nov. PMID 25203353, Free PMC Article

    See all (51) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. COX6C expression driven by copy amplification of 8q22.2 regulates cell proliferation via mediation of mitosis by ROS-AMPK signaling in lung adenocarcinoma.
      Title: COX6C expression driven by copy amplification of 8q22.2 regulates cell proliferation via mediation of mitosis by ROS-AMPK signaling in lung adenocarcinoma.
    2. Results report that a DAZAP1-targeted transcript, the cox6c mRNA, carries the E1 and E2 elements. Cox6c is a nuclear gene that encodes a subunit of complex IV in the mitochondrial respiratory chain.
      Title: Specific intron-dependent loading of DAZAP1 onto the cox6c transcript suppresses pre-mRNA splicing efficacy and induces cell growth retardation.
    3. Within the first 3h of infection with influenza virus, significant down-regulation of hsa-miRNA-4276 is followed by a 2-fold increase in cytochrome c oxidase VIc mRNA was found to occur in human alveolar and bronchial epithelial cells.
      Title: Lung epithelial cells resist influenza A infection by inducing the expression of cytochrome c oxidase VIc which is modulated by miRNA 4276.
    4. Data indicate that recombinant (r)IL-24 stimulated the mitochondrial apoptotic pathway genes Bax, Bid, Casp8, COX6C, COX7B after 36 h.
      Title: Interleukin-24 mediates apoptosis in human B-cells through early activation of cell cycle arrest followed by late induction of the mitochondrial apoptosis pathway.
    5. Data found that subunits Cox6a, Cox6b and Cox7a assembled into pre-existing complex IV, while Cox4-1 and Cox6c subunits assembled into subcomplexes that may represent rate-limiting intermediates.
      Title: Assembly of nuclear DNA-encoded subunits into mitochondrial complex IV, and their preferential integration into supercomplex forms in patient mitochondria.
    6. Observational study of gene-disease association. (HuGE Navigator)
      Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    HIV-1 interactions

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    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

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    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 generation of precursor metabolites and energy TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in mitochondrial electron transport, cytochrome c to oxygen NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in mitochondrial inner membrane TAS
    Traceable Author Statement
    more info
    		  
    located_in mitochondrial membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of mitochondrial respiratory chain complex IV IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    		  

    General protein information

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    Preferred Names
    cytochrome c oxidase subunit 6C
    Names
    cytochrome c oxidase polypeptide VIc
    cytochrome c oxidase subunit VIc preprotein
    epididymis secretory sperm binding protein
    NP_004365.1
    XP_016868509.1
    XP_054215715.1

    NCBI Reference Sequences (RefSeq)

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    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_004374.4 → NP_004365.1  cytochrome c oxidase subunit 6C

      See identical proteins and their annotated locations for NP_004365.1

      Status: REVIEWED

      Source sequence(s)
      AC105328
      Consensus CDS
      CCDS6284.1
      UniProtKB/Swiss-Prot
      B2R4D7, P09669
      UniProtKB/TrEMBL
      A0A024R9B7
      Related
      ENSP00000428895.1, ENST00000520468.7
      Conserved Domains (1) summary
      pfam02937
      Location:5 → 74
      COX6C; Cytochrome c oxidase subunit VIc

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000008.11 Reference GRCh38.p14 Primary Assembly

      Range
      99877865..99893707 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017013020.2 → XP_016868509.1  cytochrome c oxidase subunit 6C isoform X1

      UniProtKB/Swiss-Prot
      B2R4D7, P09669
      UniProtKB/TrEMBL
      A0A024R9B7
      Related
      ENSP00000428150.1, ENST00000520271.5
      Conserved Domains (1) summary
      pfam02937
      Location:5 → 74
      COX6C; Cytochrome c oxidase subunit VIc

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060932.1 Alternate T2T-CHM13v2.0

      Range
      101002824..101018666 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054359740.1 → XP_054215715.1  cytochrome c oxidase subunit 6C isoform X1

      UniProtKB/Swiss-Prot
      B2R4D7, P09669
      UniProtKB/TrEMBL
      A0A024R9B7
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P09669.2 GenPept UniProtKB/Swiss-Prot:P09669

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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