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COX17 COX17, cytochrome c oxidase copper chaperone [ Homo sapiens (human) ]

Gene ID: 10063, updated on 3-Jun-2018
Official Symbol
COX17provided by HGNC
Official Full Name
COX17, cytochrome c oxidase copper chaperoneprovided by HGNC
Primary source
HGNC:HGNC:2264
See related
Ensembl:ENSG00000138495 MIM:604813; Vega:OTTHUMG00000159433
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 involved in the recruitment of copper to mitochondria for incorporation into the COX apoenzyme. This protein shares 92% amino acid sequence identity with mouse and rat Cox17 proteins. This gene is no longer considered to be a candidate gene for COX deficiency. A pseudogene COX17P has been found on chromosome 13. [provided by RefSeq, Jul 2008]
Expression
Ubiquitous expression in heart (RPKM 52.4), adrenal (RPKM 37.4) and 25 other tissues See more
Orthologs
See COX17 in Genome Data Viewer
Location:
3q13.33
Exon count:
3
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 3 NC_000003.12 (119669525..119677396, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (119388372..119396243, complement)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene popeye domain containing 2 Neighboring gene uncharacterized LOC105374063 Neighboring gene uncharacterized LOC105374064 Neighboring gene MYCBP associated and testis expressed 1

  • 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 Jun 15 11:32:44 2016

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • MGC104397, MGC117386

Gene Ontology Provided by GOA

Function Evidence Code Pubs
copper chaperone activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
copper chaperone activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
copper chaperone activity ISS
Inferred from Sequence or Structural Similarity
more info
 
copper ion binding TAS
Traceable Author Statement
more info
PubMed 
cuprous ion binding IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
brain development IEA
Inferred from Electronic Annotation
more info
 
copper ion transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
generation of precursor metabolites and energy TAS
Traceable Author Statement
more info
PubMed 
heart development IEA
Inferred from Electronic Annotation
more info
 
mitochondrial respiratory chain complex IV assembly IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mitochondrial respiratory chain complex IV assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of cell proliferation IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of cytochrome-c oxidase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
mitochondrial intermembrane space IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mitochondrial intermembrane space IDA
Inferred from Direct Assay
more info
PubMed 
Preferred Names
cytochrome c oxidase copper chaperone
Names
COX17 cytochrome c oxidase assembly homolog
cytochrome c oxidase 17 copper chaperone
cytochrome c oxidase assembly homolog 17
human homolog of yeast mitochondrial copper recruitment

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.

mRNA and Protein(s)

  1. NM_005694.1NP_005685.1  cytochrome c oxidase copper chaperone

    See identical proteins and their annotated locations for NP_005685.1

    Status: REVIEWED

    Source sequence(s)
    L77701
    Consensus CDS
    CCDS2993.1
    UniProtKB/Swiss-Prot
    Q14061
    Related
    ENSP00000261070.2, OTTHUMP00000215283, ENST00000261070.6, OTTHUMT00000355297
    Conserved Domains (1) summary
    pfam05051
    Location:1862
    COX17; Cytochrome C oxidase copper chaperone (COX17)

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p12 Primary Assembly

    Range
    119669525..119677396 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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