Format

Send to:

Choose Destination

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

Gene ID: 1352, updated on 20-Dec-2019

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
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 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

Genomic context

See COX10 in Genome Data Viewer
Location:
17p12
Exon count:
7
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 17 NC_000017.11 (14069504..14208677)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (13972719..14111996)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene CMT1A duplicated region transcript 15 pseudogene 1 Neighboring gene COX10 antisense RNA 1 Neighboring gene distal CMT1A-REP Neighboring gene CMT1A duplicated region transcript 15 Neighboring gene heparan sulfate-glucosamine 3-sulfotransferase 3B1 Neighboring gene uncharacterized protein MGC12916

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?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • AC005224.2

Gene Ontology Provided by GOA

Function Evidence Code Pubs
contributes_to cytochrome-c oxidase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
farnesyltranstransferase activity TAS
Traceable Author Statement
more info
PubMed 
protoheme IX farnesyltransferase activity TAS
Traceable Author Statement
more info
 
Process Evidence Code Pubs
cellular respiration IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cellular respiration IGI
Inferred from Genetic Interaction
more info
PubMed 
heme O biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
heme a biosynthetic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
heme biosynthetic process TAS
Traceable Author Statement
more info
 
mitochondrial electron transport, cytochrome c to oxygen IC
Inferred by Curator
more info
PubMed 
mitochondrial fission IEA
Inferred from Electronic Annotation
more info
 
proton transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
respiratory chain complex IV assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
cytochrome complex IMP
Inferred from Mutant Phenotype
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
mitochondrial inner membrane TAS
Traceable Author Statement
more info
 
mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mitochondrion IC
Inferred by Curator
more info
PubMed 
mitochondrion IDA
Inferred from Direct Assay
more info
 
nucleolus IDA
Inferred from Direct Assay
more info
 

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)

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
    Q12887
    Related
    ENSP00000261643.3, ENST00000261643.8
    Conserved Domains (1) summary
    cd13957
    Location:160415
    PT_UbiA_Cox10; Protoheme IX farnesyltransferase

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20191205

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p13 Primary Assembly

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