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

Gene ID: 1355, updated on 14-Apr-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
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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_2023_10 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (99694293..99732127, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (100577297..100615117, complement)
105.20220307 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. 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
  2. Phenotypic variability and mutation hotspot in COX15-related Leigh syndrome. Halperin D, et al. Am J Med Genet A, 2020 Jun. PMID 32232962
  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 (47) 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
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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)

Genotypes

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 cytochrome-c oxidase activity TAS
Traceable Author Statement
more info
 PubMed 
enables enzyme regulator activity IMP
Inferred from Mutant Phenotype
more info
 PubMed 
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 TAS
Traceable Author Statement
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
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
  
acts_upstream_of_positive_effect mitochondrial electron transport, cytochrome c to oxygen TAS
Traceable Author Statement
more info
 PubMed 
involved_in proton transmembrane transport IEA
Inferred from Electronic Annotation
more info
  
involved_in respiratory chain complex IV assembly IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in respiratory gaseous exchange by respiratory system TAS
Traceable Author Statement
more info
 PubMed 
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 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

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Preferred Names
heme A synthase COX15; 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)

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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_2023_10

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  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: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  cytochrome c oxidase assembly protein COX15 homolog isoform X1

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

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