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    COX10 cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10 [ Homo sapiens (human) ]

    Gene ID: 1352, updated on 17-Jun-2019

    Summary

    Official Symbol
    COX10provided by HGNC
    Official Full Name
    cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10provided by HGNC
    Primary source
    HGNC:HGNC:2260
    See related
    Ensembl:ENSG00000006695 MIM:602125
    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 (COX), the terminal component of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. This component 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 function in the regulation and assembly of the complex. This nuclear gene encodes heme A:farnesyltransferase, which is not a structural subunit but required for the expression of functional COX and functions in the maturation of the heme A prosthetic group of COX. This protein is predicted to contain 7-9 transmembrane domains localized in the mitochondrial inner membrane. A gene mutation, which results in the substitution of a lysine for an asparagine (N204K), is identified to be responsible for cytochrome c oxidase deficiency. In addition, this gene is disrupted in patients with CMT1A (Charcot-Marie-Tooth type 1A) duplication and with HNPP (hereditary neuropathy with liability to pressure palsies) deletion. [provided by RefSeq, Jul 2008]
    Expression
    Broad expression in testis (RPKM 12.8), heart (RPKM 8.8) and 25 other tissues See more
    Orthologs

    Genomic context

    See COX10 in Genome Data Viewer
    Location:
    17p12
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    109.20190607 current GRCh38.p13 (GCF_000001405.39) 17 NC_000017.11 (14069504..14208677)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (13972719..14111996)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC100506974 Neighboring gene COX10 antisense RNA 1 Neighboring gene CMT1A duplicated region transcript 15 pseudogene 1 Neighboring gene distal CMT1A-REP Neighboring gene CMT1A duplicated region transcript 15 Neighboring gene heparan sulfate-glucosamine 3-sulfotransferase 3B1 Neighboring gene uncharacterized protein MGC12916

    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 FunctionsWhat's a GeneRIF?

    Pathways from BioSystems

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • AC005224.2

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    contributes_to cytochrome-c oxidase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    farnesyltranstransferase activity TAS
    Traceable Author Statement
    more info
    PubMed 
    protoheme IX farnesyltransferase activity TAS
    Traceable Author Statement
    more info
     
    Process Evidence Code Pubs
    cellular respiration IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    cellular respiration IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    heme O biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
     
    heme a biosynthetic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    heme biosynthetic process TAS
    Traceable Author Statement
    more info
     
    mitochondrial electron transport, cytochrome c to oxygen IC
    Inferred by Curator
    more info
    PubMed 
    mitochondrial fission IEA
    Inferred from Electronic Annotation
    more info
     
    proton transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
     
    respiratory chain complex IV assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    cytochrome complex IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    cytosol IDA
    Inferred from Direct Assay
    more info
     
    integral component of membrane IEA
    Inferred from Electronic Annotation
    more info
     
    mitochondrial inner membrane TAS
    Traceable Author Statement
    more info
     
    mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    mitochondrion IC
    Inferred by Curator
    more info
    PubMed 
    mitochondrion IDA
    Inferred from Direct Assay
    more info
     
    nucleolus IDA
    Inferred from Direct Assay
    more info
     

    General protein information

    Preferred Names
    protoheme IX farnesyltransferase, mitochondrial
    Names
    COX10 homolog, cytochrome c oxidase assembly protein, heme A: farnesyltransferase
    COX10, heme A:farnesyltransferase cytochrome c oxidase assembly factor
    cytochrome c oxidase assembly homolog 10
    cytochrome c oxidase assembly protein
    cytochrome c oxidase subunit X
    heme A: farnesyltransferase
    heme O synthase
    NP_001294.2

    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_008034.1 RefSeqGene

      Range
      5001..144278
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001303.4NP_001294.2  protoheme IX farnesyltransferase, mitochondrial

      See identical proteins and their annotated locations for NP_001294.2

      Status: REVIEWED

      Source sequence(s)
      AC005389, AK312718, BC000060, DA200545, U09466
      Consensus CDS
      CCDS11166.1
      UniProtKB/Swiss-Prot
      Q12887
      Related
      ENSP00000261643.3, ENST00000261643.8
      Conserved Domains (1) summary
      cd13957
      Location:160415
      PT_UbiA_Cox10; Protoheme IX farnesyltransferase

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000017.11 Reference GRCh38.p13 Primary Assembly

      Range
      14069504..14208677
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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