COX15 COX15 homolog, cytochrome c oxidase assembly protein (yeast) [Homo sapiens] - Gene

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Summary

Official Symbol: COX15provided by HGNC
Official Full Name: COX15 homolog, cytochrome c oxidase assembly protein (yeast)provided by HGNC
Primary source: HGNC:2263
See related: Ensembl:ENSG00000014919; HPRD:04707; MIM:603646; Vega:OTTHUMG00000018893
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
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]

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Genomic context

Location :: 10q24

Sequence :: Chromosome: 10; NC_000010.10 (101468505..101492423, complement)

See COX15 in Epigenomics, MapViewer

Chromosome 10 - NC_000010.10 Genomic Context describing neighboring genes

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

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.

Submit: New GeneRIF Correction

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Phenotypes

Review eQTL and phenotype association data in this region using PheGenI

Cardiomyopathy, hypertrophic, early-onset fatal

MIM: 603646

Leigh syndrome due to cytochrome c oxidase deficiency

MIM: 256000

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description
BioGRID:107747	BioGRID:107612	CLN3		BioGRID	PubMed	Affinity Capture-MS
BioGRID:107747	BioGRID:113164	UBC		BioGRID	PubMed	Affinity Capture-MS

Function	Evidence Code	Pubs
catalytic activity	IEA Inferred from Electronic Annotation more info
contributes_to cytochrome-c oxidase activity	IGI Inferred from Genetic Interaction more info	PubMed
cytochrome-c oxidase activity	TAS Traceable Author Statement more info	PubMed
oxidoreductase activity, acting on the CH-CH group of donors	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
cellular respiration	IC Inferred by Curator more info	PubMed
heme a biosynthetic process	IGI Inferred from Genetic Interaction more info	PubMed
mitochondrial electron transport, cytochrome c to oxygen	IC Inferred by Curator more info	PubMed
oxidation-reduction process	TAS Traceable Author Statement more info	PubMed
respiratory chain complex IV assembly	IMP Inferred from Mutant Phenotype more info	PubMed
respiratory gaseous exchange	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
integral to membrane	IEA Inferred from Electronic Annotation more info
membrane	IEA Inferred from Electronic Annotation more info
mitochondrial part	IDA Inferred from Direct Assay more info	PubMed
mitochondrial respiratory chain	TAS Traceable Author Statement more info	PubMed

General protein information

Preferred Names: cytochrome c oxidase assembly protein COX15 homolog

Names: cytochrome c oxidase assembly protein COX15 homolog; cytochrome c oxidase subunit 15

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NCBI Reference Sequences (RefSeq)

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)

mRNA and Protein(s)

NM_004376.5 → NP_004367.2 cytochrome c oxidase assembly protein COX15 homolog isoform 2

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks an internal segment in the 3' region, as compared to variant 1. The encoded isoform 2 has a shorter and distinct C-terminus, as compared to isoform 1.

Source sequence(s)

AF044323, AL133353, BC078161, BX537557, DB094258

Consensus CDS

CCDS7481.1

UniProtKB/Swiss-Prot

Q7KZN9

Related

ENSP00000359514, OTTHUMP00000020264, ENST00000370483, OTTHUMT00000049819

Conserved Domains (1) summary

cl15852
Location:66 – 367
Blast Score: 982

COX15-CtaA; Cytochrome oxidase assembly protein
NM_078470.4 → NP_510870.1 cytochrome c oxidase assembly protein COX15 homolog isoform 1

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes the longer isoform (1).

Source sequence(s)

AL133353, BC002382, BC078161, BX537557, DB094258

Consensus CDS

CCDS7482.1

UniProtKB/Swiss-Prot

Q7KZN9

Related

ENSP00000016171, OTTHUMP00000020263, ENST00000016171, OTTHUMT00000049818

Conserved Domains (2) summary

COG1612
Location:67 – 407
Blast Score: 476

CtaA; Uncharacterized protein required for cytochrome oxidase assembly [Posttranslational modification, protein turnover, chaperones]

cl15852
Location:66 – 407
Blast Score: 1108

COX15-CtaA; Cytochrome oxidase assembly protein

RefSeqs of Annotated Genomes: Build 37.3

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

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000010.10 Reference GRCh37.p5 Primary Assembly

Range

101468505..101492423, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000142.1 Alternate HuRef

Range

95095974..95119811, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AL133353.6	CAB88197.1
		CAB88198.1
genomic	CH471066.2	EAW49857.1
		EAW49858.1
mRNA	AF026850.1	AAD08639.1
mRNA	AF044323.1	AAD08646.1
mRNA	AK291654.1	BAF84343.1
mRNA	AK298864.1	BAG60984.1
mRNA	BC002382.2	AAH02382.3
mRNA	BC013403.2	AAH13403.1
mRNA	BC078161.1	AAH78161.1
mRNA	BT007129.1	AAP35793.1
mRNA	BX413913.2	None
mRNA	BX537557.1	CAD97781.1
mRNA	DB094258.1	None
other-genetic	DQ890710.2	ABM81636.1
other-genetic	DQ893892.2	ABM84818.1