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

    Gene ID: 1355, updated on 10-Dec-2024

    Summary

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    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; AllianceGenome:HGNC:2263
    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
    HAS; 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
    mouse all
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    Genomic context

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    See COX15 in Genome Data Viewer
    Location:
    10q24.2
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (99694293..99732127, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (100577297..100615117, complement)
    RS_2024_09 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 H3K27ac hESC enhancer GRCh37_chr10:101380588-101381170 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:101381171-101381752 Neighboring gene SLC25A28 divergent transcript Neighboring gene solute carrier family 25 member 28 Neighboring gene uncharacterized LOC105378450 Neighboring gene Sharpr-MPRA regulatory region 10719 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2696 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2697 Neighboring gene ectonucleoside triphosphate diphosphohydrolase 7 Neighboring gene EBAG9 pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3872 Neighboring gene cutC copper transporter Neighboring gene MPRA-validated peak1067 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2698 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr10:101544125-101545324 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr10:101545341-101545842 Neighboring gene Nanog homeobox pseudogene 6 Neighboring gene ATP binding cassette subfamily C member 2

    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
    • 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. Phenotypic variability and mutation hotspot in COX15-related Leigh syndrome. Halperin D, et al. Am J Med Genet A, 2020 Jun. PMID 32232962
    2. Cox15 is a novel oncogene that required for lung cancer cell proliferation. Zhang C, et al. Biochem Biophys Res Commun, 2021 Nov 12. PMID 34547626
    3. Analysis of Oligomerization Properties of Heme a Synthase Provides Insights into Its Function in Eukaryotes. Swenson S, et al. J Biol Chem, 2016 May 6. PMID 26940873, Free PMC Article
    4. Expression of the alternative oxidase complements cytochrome c oxidase deficiency in human cells. Dassa EP, et al. EMBO Mol Med, 2009 Apr. PMID 20049701, Free PMC Article
    5. Analysis of the genes coding for subunit 10 and 15 of cytochrome c oxidase in Alzheimer's disease. Vitali M, et al. J Neural Transm (Vienna), 2009 Dec. PMID 19826901

    See all (57) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Cox15 is a novel oncogene that required for lung cancer cell proliferation.
      Title: Cox15 is a novel oncogene that required for lung cancer cell proliferation.
    2. Phenotypic variability and mutation hotspot in COX15-related Leigh syndrome.
      Title: Phenotypic variability and mutation hotspot in COX15-related Leigh syndrome.
    3. Mutations of COX15 causing single amino acid conversions are associated with fatal infantile hypertrophic cardiomyopathy and the neurological disorder Leigh syndrome.
      Title: Analysis of Oligomerization Properties of Heme a Synthase Provides Insights into Its Function in Eukaryotes.
    4. COX 15 mRNA was significantly more abundant in the cerebral tissue of Alzheimer's disease (AD) patients and COX10 and COX15 SNP were significantly less represented in the patient group, suggesting a possible protective role toward the risk for AD
      Title: Analysis of the genes coding for subunit 10 and 15 of cytochrome c oxidase in Alzheimer's disease.
    5. The expression of the AOX, well-tolerated by the cells, compensates for both the growth defect and the pronounced oxidant-sensitivity of COX-deficient human cells.
      Title: Expression of the alternative oxidase complements cytochrome c oxidase deficiency in human cells.
    6. Observational study of gene-disease association. (HuGE Navigator)
      Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
    7. cdkl3 transfected in anchorage-independent (suspension) HeLa cells overexpressed relative to attached cells and lead to elevated proliferation and viability relative to untransfected. Same in two HEK-293 and a CHO cell lines.
      Title: Enhancement of cell proliferation in various mammalian cell lines by gene insertion of a cyclin-dependent kinase homolog.
    8. Mutations in COX15 produce a defect in the mitochondrial heme biosynthetic pathway, causing early-onset fatal hypertrophic cardiomyopathy
      Title: Mutations in COX15 produce a defect in the mitochondrial heme biosynthetic pathway, causing early-onset fatal hypertrophic cardiomyopathy.
    9. A patient with typical clinical and neuroradiological features of Leigh syndrome and cytochrome oxidase deficiency was found to have a mutation in the COX15 gene.
      Title: Functional and genetic studies demonstrate that mutation in the COX15 gene can cause Leigh syndrome.
    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
    Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2
    MedGen: C3554534 OMIM: 615119 GeneReviews: Not available
    		not available

    EBI GWAS Catalog

    Description
    A genome-wide scan of Ashkenazi Jewish Crohn's disease suggests novel susceptibility loci.
    EBI GWAS Catalog
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    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 heme binding TAS
    Traceable Author Statement
    more info
    		 PubMed 
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables oxidoreductase activity, acting on NAD(P)H, heme protein as acceptor IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables oxidoreductase activity, acting on the CH-CH group of donors IMP
    Inferred from Mutant Phenotype
    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 
    Process Evidence Code Pubs
    involved_in cytochrome complex assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in heme A biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in heme A biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in heme A biosynthetic process IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    involved_in heme biosynthetic process TAS
    Traceable Author Statement
    more info
    		  
    Component Evidence Code Pubs
    part_of cytochrome complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in mitochondrial inner membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in mitochondrial inner membrane TAS
    Traceable Author Statement
    more info
    		  
    located_in mitochondrion HTP PubMed 
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    part_of respiratory chain complex TAS
    Traceable Author Statement
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    heme A synthase COX15
    Names
    COX15 homolog, cytochrome c oxidase assembly protein
    COX15, cytochrome c oxidase assembly homolog
    cytochrome c oxidase assembly homolog 15
    cytochrome c oxidase assembly protein COX15 homolog
    cytochrome c oxidase subunit 15
    NP_001307903.1
    NP_001307904.1
    NP_001307905.1
    NP_001358953.1
    NP_001358954.1
    NP_001358955.1
    NP_001358956.1
    NP_001358957.1
    NP_004367.2
    NP_510870.1
    XP_006717697.1
    XP_054220810.1

    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_008986.1 RefSeqGene

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

    mRNA and Protein(s)

    1. NM_001320974.2 → NP_001307903.1  heme A synthase COX15 isoform 9

      Status: REVIEWED

      Source sequence(s)
      AL133353
      UniProtKB/Swiss-Prot
      Q7KZN9
      Conserved Domains (1) summary
      cl19388
      Location:66 → 367
      COX15-CtaA; Cytochrome oxidase assembly protein

    2. NM_001320975.2 → NP_001307904.1  heme A synthase COX15 isoform 3

      Status: REVIEWED

      Source sequence(s)
      AL133353
      UniProtKB/Swiss-Prot
      Q7KZN9
      Conserved Domains (1) summary
      cl19388
      Location:66 → 278
      COX15-CtaA; Cytochrome oxidase assembly protein

    3. NM_001320976.2 → NP_001307905.1  heme A synthase COX15 isoform 4

      Status: REVIEWED

      Source sequence(s)
      AL133353
      UniProtKB/TrEMBL
      B4DQM2
      Conserved Domains (1) summary
      pfam02628
      Location:1 → 217
      COX15-CtaA; Cytochrome oxidase assembly protein

    4. NM_001372024.1 → NP_001358953.1  heme A synthase COX15 isoform 5

      Status: REVIEWED

      Source sequence(s)
      AL133353
      Conserved Domains (1) summary
      cl19388
      Location:66 → 367
      COX15-CtaA; Cytochrome oxidase assembly protein

    5. NM_001372025.1 → NP_001358954.1  heme A synthase COX15 isoform 6

      Status: REVIEWED

      Source sequence(s)
      AL133353
      Conserved Domains (1) summary
      cl19388
      Location:66 → 413
      COX15-CtaA; Cytochrome oxidase assembly protein

    6. NM_001372026.1 → NP_001358955.1  heme A synthase COX15 isoform 7

      Status: REVIEWED

      Source sequence(s)
      AL133353
      Conserved Domains (1) summary
      cl19388
      Location:66 → 398
      COX15-CtaA; Cytochrome oxidase assembly protein

    7. NM_001372027.1 → NP_001358956.1  heme A synthase COX15 isoform 8

      Status: REVIEWED

      Source sequence(s)
      AL133353
      Conserved Domains (1) summary
      cl19388
      Location:66 → 354
      COX15-CtaA; Cytochrome oxidase assembly protein

    8. NM_001372028.1 → NP_001358957.1  heme A synthase COX15 isoform 3

      Status: REVIEWED

      Source sequence(s)
      AL133353
      Conserved Domains (1) summary
      cl19388
      Location:66 → 278
      COX15-CtaA; Cytochrome oxidase assembly protein

    9. NM_004376.7 → NP_004367.2  heme A synthase COX15 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:66 → 367
      COX15-CtaA; Cytochrome oxidase assembly protein

    10. NM_078470.6 → NP_510870.1  heme A synthase COX15 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
      A8K6I9, O60556, O75878, Q5TD00, Q5TD01, Q7KZN9, Q7Z3Q3, Q9NTN0
      Related
      ENSP00000016171.6, ENST00000016171.6
      Conserved Domains (1) summary
      cl19388
      Location:66 → 407
      COX15-CtaA; Cytochrome oxidase assembly protein

    RNA

    1. NR_164009.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL133353

    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_000010.11 Reference GRCh38.p14 Primary Assembly

      Range
      99694293..99732127 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006717634.4 → XP_006717697.1  heme A synthase COX15 isoform X1

      See identical proteins and their annotated locations for XP_006717697.1

      Conserved Domains (1) summary
      cl19388
      Location:66 → 278
      COX15-CtaA; Cytochrome oxidase assembly protein

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060934.1 Alternate T2T-CHM13v2.0

      Range
      100577297..100615117 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054364835.1 → XP_054220810.1  heme A synthase COX15 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q7KZN9.1 GenPept UniProtKB/Swiss-Prot:Q7KZN9

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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