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

    Gene ID: 1352, updated on 23-Nov-2023

    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; AllianceGenome:HGNC:2260
    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
    MC4DN3
    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
    NEW
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    Genomic context

    See COX10 in Genome Data Viewer
    Location:
    17p12
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (14069504..14208677)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (13977314..14116468)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (13972821..14111994)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene CDRT15 pseudogene 1 Neighboring gene COX10 divergent transcript Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11742 Neighboring gene distal CMT1A-REP Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_47071 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:14109359-14109859 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:14139403-14139910 Neighboring gene CMT1A duplicated region transcript 15 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8208 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:14206998-14207498 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 Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Mitochondrial complex 4 deficiency, nuclear type 3
    MedGen: C5436682 OMIM: 619046 GeneReviews: Not available
    Compare labs

    EBI GWAS Catalog

    Description
    A genome-wide meta-analysis of association studies of Cloninger's Temperament Scales.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • AC005224.2

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables farnesyltranstransferase activity IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    enables protoheme IX farnesyltransferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables protoheme IX farnesyltransferase activity TAS
    Traceable Author Statement
    more info
     
    Process Evidence Code Pubs
    involved_in aerobic respiration IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in heme A biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in heme A biosynthetic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in heme biosynthetic process TAS
    Traceable Author Statement
    more info
     
    involved_in lipid metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in mitochondrial fission IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in respiratory chain complex IV assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    part_of cytochrome complex IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
     
    located_in mitochondrial inner membrane TAS
    Traceable Author Statement
    more info
     
    is_active_in mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in mitochondrion IC
    Inferred by Curator
    more info
    PubMed 
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
     
    located_in 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)

    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_008034.1 RefSeqGene

      Range
      5103..144276
      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
      B2R6U5, B4DJ50, O15334, Q12887, Q969F7
      Related
      ENSP00000261643.3, ENST00000261643.8
      Conserved Domains (1) summary
      cd13957
      Location:160415
      PT_UbiA_Cox10; Protoheme IX farnesyltransferase

    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_000017.11 Reference GRCh38.p14 Primary Assembly

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

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      13977314..14116468
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)