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    COX15 cytochrome c oxidase assembly homolog COX15 [ Homo sapiens (human) ]

    Gene ID: 1355, updated on 8-Jul-2021

    Summary

    Official Symbol
    COX15provided by HGNC
    Official Full Name
    cytochrome c oxidase assembly homolog COX15provided by HGNC
    Primary source
    HGNC:HGNC:2263
    See related
    Ensembl:ENSG00000014919 MIM:603646
    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
    MC4DN6; CEMCOX2
    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 a protein which is not a structural subunit, but may be essential for the biogenesis of COX formation and may function in the hydroxylation of heme O, according to the yeast mutant studies. This protein is predicted to contain 5 transmembrane domains localized in the mitochondrial inner membrane. Alternative splicing of this gene generates two transcript variants diverging in the 3' region. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in adrenal (RPKM 6.2), kidney (RPKM 6.1) and 25 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See COX15 in Genome Data Viewer
    Location:
    10q24.2
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 10 NC_000010.11 (99694293..99732131, complement)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (101454050..101491884, complement)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene NK2 homeobox 3 Neighboring gene uncharacterized LOC105378450 Neighboring gene solute carrier family 25 member 28 Neighboring gene ectonucleoside triphosphate diphosphohydrolase 7 Neighboring gene EBAG9 pseudogene 1 Neighboring gene cutC copper transporter Neighboring gene ABCC2 intron CAGE-defined mid-level expression enhancer Neighboring gene ATP binding cassette subfamily C member 2

    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
    A genome-wide scan of Ashkenazi Jewish Crohn's disease suggests novel susceptibility loci.
    GeneReviews: Not available
    Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2
    MedGen: C3554534 OMIM: 615119 GeneReviews: Not available
    Compare labs
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    GeneReviews: Not available

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables cytochrome-c oxidase activity TAS
    Traceable Author Statement
    more info
    PubMed 
    enables heme binding TAS
    Traceable Author Statement
    more info
    PubMed 
    enables molecular adaptor activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables oxidoreductase activity, acting on NAD(P)H, heme protein as acceptor IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables oxidoreductase activity, acting on the CH-CH group of donors TAS
    Traceable Author Statement
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Component Evidence Code Pubs
    part_of cytochrome complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in integral component of membrane IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in mitochondrial inner membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in mitochondrial inner membrane TAS
    Traceable Author Statement
    more info
     
    located_in mitochondrial respirasome TAS
    Traceable Author Statement
    more info
    PubMed 
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     

    General protein information

    Preferred Names
    cytochrome c oxidase assembly protein COX15 homolog
    Names
    COX15 homolog, cytochrome c oxidase assembly protein
    COX15, cytochrome c oxidase assembly homolog
    cytochrome c oxidase assembly homolog 15
    cytochrome c oxidase subunit 15

    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_008986.1 RefSeqGene

      Range
      5001..28919
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_406

    mRNA and Protein(s)

    1. NM_001320974.2NP_001307903.1  cytochrome c oxidase assembly protein COX15 homolog isoform 2

      Status: REVIEWED

      Source sequence(s)
      AL133353
      UniProtKB/Swiss-Prot
      Q7KZN9
      Conserved Domains (1) summary
      cl19388
      Location:66367
      COX15-CtaA; Cytochrome oxidase assembly protein
    2. NM_001320975.2NP_001307904.1  cytochrome c oxidase assembly protein COX15 homolog isoform 3

      Status: REVIEWED

      Source sequence(s)
      AL133353
      UniProtKB/Swiss-Prot
      Q7KZN9
      Conserved Domains (1) summary
      cl19388
      Location:66278
      COX15-CtaA; Cytochrome oxidase assembly protein
    3. NM_001320976.2NP_001307905.1  cytochrome c oxidase assembly protein COX15 homolog isoform 4

      Status: REVIEWED

      Source sequence(s)
      AL133353
      UniProtKB/Swiss-Prot
      Q7KZN9
      UniProtKB/TrEMBL
      B4DQM2
      Conserved Domains (1) summary
      pfam02628
      Location:1217
      COX15-CtaA; Cytochrome oxidase assembly protein
    4. NM_001372024.1NP_001358953.1  cytochrome c oxidase assembly protein COX15 homolog isoform 5

      Status: REVIEWED

      Source sequence(s)
      AL133353
      Conserved Domains (1) summary
      cl19388
      Location:66367
      COX15-CtaA; Cytochrome oxidase assembly protein
    5. NM_001372025.1NP_001358954.1  cytochrome c oxidase assembly protein COX15 homolog isoform 6

      Status: REVIEWED

      Source sequence(s)
      AL133353
      Conserved Domains (1) summary
      cl19388
      Location:66413
      COX15-CtaA; Cytochrome oxidase assembly protein
    6. NM_001372026.1NP_001358955.1  cytochrome c oxidase assembly protein COX15 homolog isoform 7

      Status: REVIEWED

      Source sequence(s)
      AL133353
      Conserved Domains (1) summary
      cl19388
      Location:66398
      COX15-CtaA; Cytochrome oxidase assembly protein
    7. NM_001372027.1NP_001358956.1  cytochrome c oxidase assembly protein COX15 homolog isoform 8

      Status: REVIEWED

      Source sequence(s)
      AL133353
      Conserved Domains (1) summary
      cl19388
      Location:66354
      COX15-CtaA; Cytochrome oxidase assembly protein
    8. NM_001372028.1NP_001358957.1  cytochrome c oxidase assembly protein COX15 homolog isoform 3

      Status: REVIEWED

      Source sequence(s)
      AL133353
      Conserved Domains (1) summary
      cl19388
      Location:66278
      COX15-CtaA; Cytochrome oxidase assembly protein
    9. NM_004376.7NP_004367.2  cytochrome c oxidase assembly protein COX15 homolog isoform 2

      See identical proteins and their annotated locations for NP_004367.2

      Status: REVIEWED

      Source sequence(s)
      AL133353
      Consensus CDS
      CCDS7481.1
      UniProtKB/Swiss-Prot
      Q7KZN9
      Related
      ENSP00000359514.5, ENST00000370483.9
      Conserved Domains (1) summary
      cl19388
      Location:66367
      COX15-CtaA; Cytochrome oxidase assembly protein
    10. NM_078470.6NP_510870.1  cytochrome c oxidase assembly protein COX15 homolog isoform 1

      See identical proteins and their annotated locations for NP_510870.1

      Status: REVIEWED

      Source sequence(s)
      AL133353
      Consensus CDS
      CCDS7482.1
      UniProtKB/Swiss-Prot
      Q7KZN9
      Related
      ENSP00000016171.6, ENST00000016171.6
      Conserved Domains (1) summary
      cl19388
      Location:66407
      COX15-CtaA; Cytochrome oxidase assembly protein

    RNA

    1. NR_164009.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL133353

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000010.11 Reference GRCh38.p13 Primary Assembly

      Range
      99694293..99732131 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006717634.3XP_006717697.1  cytochrome c oxidase assembly protein COX15 homolog isoform X1

      See identical proteins and their annotated locations for XP_006717697.1

      Conserved Domains (1) summary
      cl19388
      Location:66278
      COX15-CtaA; Cytochrome oxidase assembly protein
    2. XM_011539298.2XP_011537600.1  cytochrome c oxidase assembly protein COX15 homolog isoform X1

      See identical proteins and their annotated locations for XP_011537600.1

      Conserved Domains (1) summary
      cl19388
      Location:66278
      COX15-CtaA; Cytochrome oxidase assembly protein
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