COX10 cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10 [Homo sapiens (human)] - Gene

Summary

Official Symbol: COX10provided by HGNC
Official Full Name: cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10provided by HGNC
Primary source: HGNC:HGNC:2260
See related: Ensembl:ENSG00000006695 MIM:602125; AllianceGenome:HGNC:2260
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: MC4DN3
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 heme A:farnesyltransferase, which is not a structural subunit but required for the expression of functional COX and functions in the maturation of the heme A prosthetic group of COX. This protein is predicted to contain 7-9 transmembrane domains localized in the mitochondrial inner membrane. A gene mutation, which results in the substitution of a lysine for an asparagine (N204K), is identified to be responsible for cytochrome c oxidase deficiency. In addition, this gene is disrupted in patients with CMT1A (Charcot-Marie-Tooth type 1A) duplication and with HNPP (hereditary neuropathy with liability to pressure palsies) deletion. [provided by RefSeq, Jul 2008]
Expression: Broad expression in testis (RPKM 12.8), heart (RPKM 8.8) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 17p12

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	17	NC_000017.11 (14069504..14208677)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	17	NC_060941.1 (13977314..14116468)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	17	NC_000017.10 (13972821..14111994)

Chromosome 17 - NC_000017.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

A Novel COX10 Deletion Polymorphism as a Susceptibility Factor for Sudden Cardiac Death Risk in Chinese Populations.
Title: A Novel COX10 Deletion Polymorphism as a Susceptibility Factor for Sudden Cardiac Death Risk in Chinese Populations.
On the basis of its pivotal role in regulating cell death upon COX dysfunction, CerS6 might potentially represent a novel target for therapeutic intervention in mitochondrial diseases caused by COX dysfunction.
Title: Cytochrome c oxidase deficiency accelerates mitochondrial apoptosis by activating ceramide synthase 6.
ISCU and COX10 are target genes of miR-210 related to mitochondrial metabolism
Title: Hypoxia-regulated microRNA-210 modulates mitochondrial function and decreases ISCU and COX10 expression.
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.
Geranylgeranyltransferase inhibitor-2147 (GGTI-2147), an inhibitor of this enzyme prenylation, elicited significant inhibition of glucose-stimulated insulin secretion from INS 832/13 islet cells.
Title: Dominant-negative alpha-subunit of farnesyl- and geranyltransferase inhibits glucose-stimulated, but not KCl-stimulated, insulin secretion in INS 832/13 cells.
This study report a cytochrome c oxidase (COX)-deficient patient, clinically affected with Leigh-like disease, with a homozygous mutation in the COX10 start codon.
Title: Cytochrome c oxidase biogenesis in a patient with a mutation in COX10 gene.
Cytochrome c oxidase is decreased significantly in platelets and hippocampus in Alzheimer patients compared to controls.
Title: Cytochrome c oxidase and mitochondrial F1F0-ATPase (ATP synthase) activities in platelets and brain from patients with Alzheimer's disease.
COX10 has a role in mitochondrial heme A biosynthesis
Title: Mutations in COX10 result in a defect in mitochondrial heme A biosynthesis and account for multiple, early-onset clinical phenotypes associated with isolated COX deficiency.

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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
Mitochondrial complex 4 deficiency, nuclear type 3 MedGen: C5436682 OMIM: 619046 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

Description
A genome-wide meta-analysis of association studies of Cloninger's Temperament Scales. 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

L29898 (e-PCR)
- UniSTS:17190

WI-20772 (e-PCR)
- UniSTS:72803

G54161 (e-PCR)
- UniSTS:109464

COX10_8270 (e-PCR)
- UniSTS:467615

D17S922 (e-PCR), detects polymorphism
- UniSTS:15012

G31031 (e-PCR)
- UniSTS:63674

RH122489 (e-PCR)
- UniSTS:135362

D17S922 (e-PCR), detects polymorphism
- UniSTS:79599

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables farnesyltranstransferase activity	IGI Inferred from Genetic Interaction more info	PubMed
enables protoheme IX farnesyltransferase activity	IBA Inferred from Biological aspect of Ancestor more info
enables protoheme IX farnesyltransferase activity	TAS Traceable Author Statement more info

Process	Evidence Code	Pubs
involved_in aerobic respiration	IEA Inferred from Electronic Annotation more info
involved_in heme A biosynthetic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in heme A biosynthetic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in heme O biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in heme biosynthetic process	TAS Traceable Author Statement more info
involved_in lipid metabolic process	IEA Inferred from Electronic Annotation more info
involved_in mitochondrial fission	IEA Inferred from Electronic Annotation more info
involved_in respiratory chain complex IV assembly	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
part_of cytochrome complex	IMP Inferred from Mutant Phenotype more info	PubMed
located_in cytosol	IDA Inferred from Direct Assay more info
located_in mitochondrial inner membrane	TAS Traceable Author Statement more info
located_in mitochondrial matrix	IEA Inferred from Electronic Annotation more info
is_active_in mitochondrion	IBA Inferred from Biological aspect of Ancestor more info
located_in mitochondrion	IC Inferred by Curator more info	PubMed
located_in mitochondrion	IDA Inferred from Direct Assay more info
located_in nucleolus	IDA Inferred from Direct Assay more info

General protein information

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Preferred Names: protoheme IX farnesyltransferase, mitochondrial

Names: COX10 homolog, cytochrome c oxidase assembly protein, heme A: farnesyltransferase; COX10, heme A:farnesyltransferase cytochrome c oxidase assembly factor; cytochrome c oxidase assembly homolog 10; cytochrome c oxidase assembly protein; cytochrome c oxidase subunit X; heme A: farnesyltransferase; heme O synthase

NP_001294.2

EC 2.5.1.141

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.