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COA5 cytochrome c oxidase assembly factor 5 [ Homo sapiens (human) ]

Gene ID: 493753, updated on 1-Jun-2020

Summary

Official Symbol
COA5provided by HGNC
Official Full Name
cytochrome c oxidase assembly factor 5provided by HGNC
Primary source
HGNC:HGNC:33848
See related
Ensembl:ENSG00000183513 MIM:613920
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
Pet191; C2orf64; CEMCOX3; 6330578E17Rik
Summary
This gene encodes an ortholog of yeast Pet191, which in yeast is a subunit of a large oligomeric complex associated with the mitochondrial inner membrane, and required for the assembly of the cytochrome c oxidase complex. Mutations in this gene are associated with mitochondrial complex IV deficiency, a disorder of the mitochondrial respiratory chain with heterogeneous clinical manifestations, ranging from isolated myopathy to a severe disease affecting several tissues and organs. [provided by RefSeq, Dec 2011]
Expression
Ubiquitous expression in brain (RPKM 12.5), kidney (RPKM 12.0) and 25 other tissues See more
Orthologs

Genomic context

See COA5 in Genome Data Viewer
Location:
2q11.2
Exon count:
3
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (98599314..98608512, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (99215786..99224981, complement)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene cyclic nucleotide gated channel subunit alpha 3 Neighboring gene inositol polyphosphate-4-phosphatase type I A Neighboring gene unc-50 inner nuclear membrane RNA binding protein Neighboring gene alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase A Neighboring gene YWHAQ pseudogene 5

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?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Potential readthrough

Included gene: MGAT4A

Homology

Clone Names

  • MGC52110

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
mitochondrial respiratory chain complex IV assembly IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
mitochondrion IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
cytochrome c oxidase assembly factor 5
Names
protein C2orf64

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_031918.1 RefSeqGene

    Range
    5007..14205
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001008215.3NP_001008216.1  cytochrome c oxidase assembly factor 5

    See identical proteins and their annotated locations for NP_001008216.1

    Status: REVIEWED

    Source sequence(s)
    AC010134, AI002968, AK131034, BC047722
    Consensus CDS
    CCDS33257.1
    UniProtKB/Swiss-Prot
    Q86WW8
    Related
    ENSP00000330730.3, ENST00000328709.8
    Conserved Domains (1) summary
    pfam10203
    Location:1171
    Pet191_N; Cytochrome c oxidase assembly protein PET191

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

    Range
    98599314..98608512 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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