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

Gene ID: 1355, updated on 5-Aug-2022

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; 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
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

See COX15 in Genome Data Viewer
Location:
10q24.2
Exon count:
10
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (99694293..99732127, complement)
110 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 small nucleolar RNA U13 Neighboring gene solute carrier family 25 member 28 Neighboring gene uncharacterized LOC105378450 Neighboring gene Sharpr-MPRA regulatory region 10719 Neighboring gene ectonucleoside triphosphate diphosphohydrolase 7 Neighboring gene EBAG9 pseudogene 1 Neighboring gene cutC copper transporter Neighboring gene MED14-independent group 3 enhancer GRCh37_chr10:101544125-101545324 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
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2
MedGen: C3554534 OMIM: 615119 GeneReviews: Not available
Compare labs

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

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)

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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_001320974.2NP_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, Q9NTN0
    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 Annotation Release 110 details...Open this link in a new tab

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_006717634.4XP_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

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060934.1 Alternate T2T-CHM13v2.0

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