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COA6 cytochrome c oxidase assembly factor 6 [ Homo sapiens (human) ]

Gene ID: 388753, updated on 5-Aug-2018

Summary

Official Symbol
COA6provided by HGNC
Official Full Name
cytochrome c oxidase assembly factor 6provided by HGNC
Primary source
HGNC:HGNC:18025
See related
Ensembl:ENSG00000168275 MIM:614772; Vega:OTTHUMG00000037945
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
C1orf31; CEMCOX4
Summary
This gene encodes a member of the cytochrome c oxidase subunit 6B family. The encoded protein associates with cytochrome c oxidase may act has an cytochrome c oxidase mitochondrial respiratory complex VI assembly factor. Mutations in this gene may be associated with fatal infantile cardiomyopathy. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2014]
Expression
Ubiquitous expression in duodenum (RPKM 9.1), colon (RPKM 8.2) and 25 other tissues See more
Orthologs

Genomic context

See COA6 in Genome Data Viewer
Location:
1q42.2
Exon count:
4
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 1 NC_000001.11 (234373437..234384049)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (234508932..234519795)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene solute carrier family 35 member F3 Neighboring gene microRNA 4671 Neighboring gene ribosomal protein S15 pseudogene 2 Neighboring gene COA6 antisense RNA 1 Neighboring gene TAR (HIV-1) RNA binding protein 1 Neighboring gene long intergenic non-protein coding RNA 1354

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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Pathways from BioSystems

  • Metabolism of proteins, organism-specific biosystem (from REACTOME)
    Metabolism of proteins, organism-specific biosystemProtein metabolism comprises the pathways of translation, post-translational modification and protein folding.
  • Mitochondrial protein import, organism-specific biosystem (from REACTOME)
    Mitochondrial protein import, organism-specific biosystemA human mitochondrion contains about 1500 proteins, more than 99% of which are encoded in the nucleus, synthesized in the cytosol and imported into the mitochondrion. Proteins are targeted to four lo...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Gene Ontology Provided by GOA

Function Evidence Code Pubs
RNA binding HDA PubMed 
copper ion binding IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
plasma membrane ATP synthesis coupled electron transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
respiratory chain complex IV assembly IDA
Inferred from Direct Assay
more info
PubMed 
respiratory chain complex IV assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
mitochondrial intermembrane space IDA
Inferred from Direct Assay
more info
PubMed 
mitochondrion ISS
Inferred from Sequence or Structural Similarity
more info
 
plasma membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
cytochrome c oxidase assembly factor 6 homolog

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_034250.1 RefSeqGene

    Range
    5001..15613
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001012985.2NP_001013003.1  cytochrome c oxidase assembly factor 6 homolog isoform 1

    See identical proteins and their annotated locations for NP_001013003.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes isoform (1).
    Source sequence(s)
    BC116455, BG195363
    Consensus CDS
    CCDS31059.1
    UniProtKB/Swiss-Prot
    Q5JTJ3
    Related
    ENSP00000355572.1, OTTHUMP00000036046, ENST00000366613.1, OTTHUMT00000092613
    Conserved Domains (1) summary
    cd00926
    Location:29110
    Cyt_c_Oxidase_VIb; Cytochrome c oxidase subunit VIb. Cytochrome c oxidase (CcO), the terminal oxidase in the respiratory chains of eukaryotes and most bacteria, is a multi-chain transmembrane protein located in the inner membrane of mitochondria and the cell membrane of ...
  2. NM_001206641.2NP_001193570.2  cytochrome c oxidase assembly factor 6 homolog isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate 5' most exon which results in the use of an alternate AUG, compared to variant 1. The resulting isoform (2) has a distinct and longer N-terminus, compared to isoform 1.
    Source sequence(s)
    BC035925, BG204581, HY169996
    Consensus CDS
    CCDS76275.1
    UniProtKB/TrEMBL
    X6R5Z6
    Related
    ENSP00000355574.4, OTTHUMP00000036045, ENST00000366615.8, OTTHUMT00000092612
    Conserved Domains (1) summary
    cd00926
    Location:80140
    Cyt_c_Oxidase_VIb; Cytochrome c oxidase subunit VIb. Cytochrome c oxidase (CcO), the terminal oxidase in the respiratory chains of eukaryotes and most bacteria, is a multi-chain transmembrane protein located in the inner membrane of mitochondria and the cell membrane of ...
  3. NM_001301733.1NP_001288662.1  cytochrome c oxidase assembly factor 6 homolog isoform 3

    See identical proteins and their annotated locations for NP_001288662.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) uses an alternate 5' structure which results in the use of a downstream AUG compared to variant 1. The encoded isoform (3) has a shorter N-terminus compared to isoform 1.
    Source sequence(s)
    BC064905, BG204581
    Consensus CDS
    CCDS55690.1
    UniProtKB/Swiss-Prot
    Q5JTJ3
    Related
    ENSP00000355571.1, OTTHUMP00000036047, ENST00000366612.1, OTTHUMT00000092614
    Conserved Domains (1) summary
    cd00926
    Location:464
    Cyt_c_Oxidase_VIb; Cytochrome c oxidase subunit VIb. Cytochrome c oxidase (CcO), the terminal oxidase in the respiratory chains of eukaryotes and most bacteria, is a multi-chain transmembrane protein located in the inner membrane of mitochondria and the cell membrane of ...

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_000001.11 Reference GRCh38.p12 Primary Assembly

    Range
    234373437..234384049
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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