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

Gene ID: 1352, updated on 4-Jan-2025

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
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Genomic context

See COX10 in Genome Data Viewer
Location:
17p12
Exon count:
7
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (14069504..14208677)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (13977314..14116468)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (13972821..14111994)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene CDRT15 pseudogene 1 Neighboring gene COX10 divergent transcript Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11742 Neighboring gene distal CMT1A-REP Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_47071 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:14109359-14109859 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:14139403-14139910 Neighboring gene CMT1A duplicated region transcript 15 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8208 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:14206998-14207498 Neighboring gene heparan sulfate-glucosamine 3-sulfotransferase 3B1 Neighboring gene uncharacterized protein MGC12916

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

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

Pathways from PubChem

Interactions

General gene information

Clone Names

  • AC005224.2

Gene Ontology Provided by GOA

Process Evidence Code Pubs
involved_in aerobic respiration  
involved_in copper ion homeostasis  
involved_in heme A biosynthetic process  
involved_in heme A biosynthetic process PubMed 
involved_in heme O biosynthetic process  
involved_in heme biosynthetic process  
involved_in leukocyte differentiation  
involved_in lipid metabolic process  
involved_in mitochondrial fission  
involved_in multicellular organism growth  
involved_in respiratory chain complex IV assembly PubMed 
Component Evidence Code Pubs
part_of cytochrome complex PubMed 
located_in cytosol  
located_in mitochondrial inner membrane  
located_in mitochondrial matrix  
located_in mitochondrion PubMed 
is_active_in mitochondrion  
located_in mitochondrion PubMed 
located_in mitochondrion  
located_in nucleolus  

General protein information

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

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_008034.1 RefSeqGene

    Range
    5103..144276
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001303.4NP_001294.2  protoheme IX farnesyltransferase, mitochondrial

    See identical proteins and their annotated locations for NP_001294.2

    Status: REVIEWED

    Source sequence(s)
    AC005389, AK312718, BC000060, DA200545, U09466
    Consensus CDS
    CCDS11166.1
    UniProtKB/Swiss-Prot
    B2R6U5, B4DJ50, O15334, Q12887, Q969F7
    Related
    ENSP00000261643.3, ENST00000261643.8
    Conserved Domains (1) summary
    cd13957
    Location:160415
    PT_UbiA_Cox10; Protoheme IX farnesyltransferase

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

    Range
    14069504..14208677
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060941.1 Alternate T2T-CHM13v2.0

    Range
    13977314..14116468
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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