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

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: 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

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_000010.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
Phenotypic variability and mutation hotspot in COX15-related Leigh syndrome.
Title: Phenotypic variability and mutation hotspot in COX15-related Leigh syndrome.
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.
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.
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.
Observational study of gene-disease association. (HuGE Navigator)
Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
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.
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.
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.

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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 EBI GWAS CatalogPubMed
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D8S2279 (e-PCR)
- UniSTS:473907

WI-13735 (e-PCR)
- UniSTS:83539

D10S1633 (e-PCR)
- UniSTS:154228

RH65628 (e-PCR)
- UniSTS:73963

RH44559 (e-PCR)
- UniSTS:58606

A008T04 (e-PCR)
- UniSTS:17407

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 more info	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

EC 1.17.99.9

NP_001307904.1

EC 1.17.99.9

NP_001307905.1

EC 1.17.99.9

NP_001358953.1

EC 1.17.99.9

NP_001358954.1

EC 1.17.99.9

NP_001358955.1

EC 1.17.99.9

NP_001358956.1

EC 1.17.99.9

NP_001358957.1

EC 1.17.99.9

NP_004367.2

EC 1.17.99.9

NP_510870.1

EC 1.17.99.9

XP_006717697.1

EC 1.17.99.9

XP_054220810.1

EC 1.17.99.9

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

NG_008986.1 RefSeqGene

Range

5001..28919

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_406

mRNA and Protein(s)

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
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
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
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
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
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
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
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
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
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