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    COX8A cytochrome c oxidase subunit 8A [ Homo sapiens (human) ]

    Gene ID: 1351, updated on 2-Nov-2024

    Summary

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    Official Symbol
    COX8Aprovided by HGNC
    Official Full Name
    cytochrome c oxidase subunit 8Aprovided by HGNC
    Primary source
    HGNC:HGNC:2294
    See related
    Ensembl:ENSG00000176340 MIM:123870; AllianceGenome:HGNC:2294
    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
    COX; COX8; VIII; COX8L; COX8-2; VIII-L; MC4DN15
    Summary
    The protein encoded by this gene is the terminal enzyme of the respiratory chain, coupling the transfer of electrons from cytochrome c to molecular oxygen, with the concomitant production of a proton electrochemical gradient across the inner mitochondrial membrane. In addition to 3 mitochondrially encoded subunits, which perform the catalytic function, the eukaryotic enzyme contains nuclear-encoded smaller subunits, ranging in number from 4 in some organisms to 10 in mammals. It has been proposed that nuclear-encoded subunits may be involved in the modulation of the catalytic function. This gene encodes one of the nuclear-encoded subunits. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in kidney (RPKM 159.8), colon (RPKM 143.7) and 25 other tissues See more
    Orthologs
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    Genomic context

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    See COX8A in Genome Data Viewer
    Location:
    11q13.1
    Exon count:
    2
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (63974620..63976543)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (63964325..63966248)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (63742092..63744015)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene ReSE screen-validated silencer GRCh37_chr11:63706395-63706580 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:63712515-63713444 Neighboring gene N-alpha-acetyltransferase 40, NatD catalytic subunit Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:63728699-63729256 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4880 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:63744743-63745420 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:63746097-63746774 Neighboring gene RNA, U6 small nuclear 45, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3453 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:63764275-63765212 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:63766149-63767086 Neighboring gene H3K27ac-H3K4me1 hESC enhancers GRCh37_chr11:63767087-63768022 and GRCh37_chr11:63768035-63768542 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:63775344-63775934 Neighboring gene OTU deubiquitinase, ubiquitin aldehyde binding 1 Neighboring gene mono-ADP ribosylhydrolase 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:63789022-63789720 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:63789721-63790419 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:63791118-63791816 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:63795215-63796016 Neighboring gene uncharacterized LOC124902685

    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. Peptide nucleic acid delivery to human mitochondria. Chinnery PF, et al. Gene Ther, 1999 Dec. PMID 10637443
    2. Molecular and Functional Effects of Loss of Cytochrome c Oxidase Subunit 8A. Rotko D, et al. Biochemistry (Mosc), 2021 Jan. PMID 33705280
    3. Human heart cytochrome c oxidase subunit VIII. Purification and determination of the complete amino acid sequence. Van Kuilenburg AB, et al. FEBS Lett, 1988 Nov 21. PMID 2847943
    4. Loss of the smallest subunit of cytochrome c oxidase, COX8A, causes Leigh-like syndrome and epilepsy. Hallmann K, et al. Brain, 2016 Feb. PMID 26685157
    5. A gene specifying subunit VIII of human cytochrome c oxidase is localized to chromosome 11 and is expressed in both muscle and non-muscle tissues. Rizzuto R, et al. J Biol Chem, 1989 Jun 25. PMID 2543673

    See all (23) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Molecular and Functional Effects of Loss of Cytochrome c Oxidase Subunit 8A.
      Title: Molecular and Functional Effects of Loss of Cytochrome c Oxidase Subunit 8A.
    2. COX8A is indispensable for function of human complex IV and its mutation causes Leigh-like syndrome and epilepsy.
      Title: Loss of the smallest subunit of cytochrome c oxidase, COX8A, causes Leigh-like syndrome and epilepsy.
    3. 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

    Associated conditions

    Description Tests
    Mitochondrial complex 4 deficiency, nuclear type 15
    MedGen: C5436712 OMIM: 619059 GeneReviews: Not available
    		Compare labs

    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

    Potential readthrough

    Included gene: OTUB1

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables cytochrome-c oxidase activity TAS
    Traceable Author Statement
    more info
    		 PubMed 
    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 
    involved_in proton transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    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 
    located_in mitochondrion HTP PubMed 
    is_active_in mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of respiratory chain complex IV IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    cytochrome c oxidase subunit 8A, mitochondrial
    Names
    cytochrome c oxidase polypeptide VIII-liver/heart
    cytochrome c oxidase subunit 8-2
    cytochrome c oxidase subunit 8A (ubiquitous)
    cytochrome c oxidase subunit VIII
    cytochrome c oxidase subunit VIIIA (ubiquitous)
    NP_004065.1

    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.

    Genomic

    1. NG_046750.1 RefSeqGene

      Range
      5014..6937
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_004074.3 → NP_004065.1  cytochrome c oxidase subunit 8A, mitochondrial

      See identical proteins and their annotated locations for NP_004065.1

      Status: REVIEWED

      Source sequence(s)
      BC063025
      Consensus CDS
      CCDS8054.1
      UniProtKB/Swiss-Prot
      P10176, P15955
      UniProtKB/TrEMBL
      Q53XN1
      Related
      ENSP00000321260.3, ENST00000314133.4
      Conserved Domains (1) summary
      cd00930
      Location:26 → 68
      Cyt_c_Oxidase_VIII; Cytochrome oxidase c subunit VIII. 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_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      63974620..63976543
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      63964325..63966248
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P10176.2 GenPept UniProtKB/Swiss-Prot:P10176

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