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

Gene ID: 1345, updated on 14-Nov-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
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Genomic context

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See COX6C in Genome Data Viewer
Location:
8q22.2
Exon count:
4
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (99877865..99893707, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (101002824..101018666, complement)
RS_2024_09 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 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. COX6C expression driven by copy amplification of 8q22.2 regulates cell proliferation via mediation of mitosis by ROS-AMPK signaling in lung adenocarcinoma. Liu S, et al. Cell Death Dis, 2024 Jan 19. PMID 38242874, Free PMC Article
  2. 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
  3. Two differentially expressed genes in normal human prostate tissue and in carcinoma. Wang FL, et al. Cancer Res, 1996 Aug 15. PMID 8705997
  4. 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
  5. 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

See all (61) 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)

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 intermembrane space TAS
Traceable Author Statement
more info
  
located_in mitochondrial membrane IDA
Inferred from Direct Assay
more info
 PubMed 
located_in mitochondrion HTP PubMed 
located_in mitochondrion IDA
Inferred from Direct Assay
more info
  
part_of respiratory chain complex IV IEA
Inferred from Electronic Annotation
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_2024_08

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

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