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Aliases for COA6 Gene

Aliases for COA6 Gene

  • Cytochrome C Oxidase Assembly Factor 6 2 3
  • C1orf31 3 4 6
  • Cytochrome C Oxidase Assembly Factor 6 Homolog (S. Cerevisiae) 2
  • Cytochrome C Oxidase Assembly Factor 6 Homolog 3
  • Chromosome 1 Open Reading Frame 31 2

External Ids for COA6 Gene

Previous Symbols for COA6 Gene

  • C1orf31

Summaries for COA6 Gene

Entrez Gene Summary for COA6 Gene

  • 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]

GeneCards Summary for COA6 Gene

COA6 (Cytochrome C Oxidase Assembly Factor 6) is a Protein Coding gene. GO annotations related to this gene include cytochrome-c oxidase activity.

No data available for UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for COA6 Gene

Genomics for COA6 Gene

Genomic Location for COA6 Gene

Start:
234,373,193 bp from pter
End:
234,384,049 bp from pter
Size:
10,857 bases
Orientation:
Plus strand

Genomic View for COA6 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for COA6 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for COA6 Gene

No data available for Regulatory Elements for COA6 Gene

Proteins for COA6 Gene

  • Protein details for COA6 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q5JTJ3-COA6_HUMAN
    Recommended name:
    Cytochrome c oxidase assembly factor 6 homolog
    Protein Accession:
    Q5JTJ3
    Secondary Accessions:
    • Q5JTJ2
    • Q5JTJ4
    • Q8TA88

    Protein attributes for COA6 Gene

    Size:
    125 amino acids
    Molecular mass:
    14116 Da
    Quaternary structure:
    • Interacts with COA1.
    SequenceCaution:
    • Sequence=AAH25793.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=AAH25793.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence.; Evidence={ECO:0000305};

    Alternative splice isoforms for COA6 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for COA6 Gene

Proteomics data for COA6 Gene at MOPED

Post-translational modifications for COA6 Gene

  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys96 and Lys110

Other Protein References for COA6 Gene

No data available for DME Specific Peptides for COA6 Gene

Domains for COA6 Gene

Gene Families for COA6 Gene

HGNC:
  • MITOAF :Mitochondrial respiratory chain complex assembly factors

Protein Domains for COA6 Gene

Graphical View of Domain Structure for InterPro Entry

Q5JTJ3

UniProtKB/Swiss-Prot:

COA6_HUMAN
Family:
  • Belongs to the cytochrome c oxidase subunit 6B family.:
    • Q5JTJ3
genes like me logo Genes that share domains with COA6: view

No data available for Suggested Antigen Peptide Sequences for COA6 Gene

Function for COA6 Gene

Gene Ontology (GO) - Molecular Function for COA6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function --
GO:0004129 cytochrome-c oxidase activity IEA --
GO:0044822 poly(A) RNA binding IDA 22658674
genes like me logo Genes that share ontologies with COA6: view

miRNA for COA6 Gene

miRTarBase miRNAs that target COA6

No data available for Molecular function , Enzyme Numbers (IUBMB) , Phenotypes , Animal Models , Transcription Factor Targeting and HOMER Transcription for COA6 Gene

Localization for COA6 Gene

Subcellular locations from UniProtKB/Swiss-Prot for COA6 Gene

Mitochondrion.

Gene Ontology (GO) - Cellular Components for COA6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005575 cellular_component --
GO:0005739 mitochondrion ISS --
genes like me logo Genes that share ontologies with COA6: view

No data available for Subcellular locations from COMPARTMENTS for COA6 Gene

Pathways for COA6 Gene

SuperPathways for COA6 Gene

No Data Available

Interacting Proteins for COA6 Gene

Gene Ontology (GO) - Biological Process for COA6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008150 biological_process ND --
GO:1902600 hydrogen ion transmembrane transport IEA --
genes like me logo Genes that share ontologies with COA6: view

No data available for Pathways by source for COA6 Gene

Transcripts for COA6 Gene

Unigene Clusters for COA6 Gene

Cytochrome c oxidase assembly factor 6 homolog (S. cerevisiae):
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for COA6 Gene

No ASD Table

Relevant External Links for COA6 Gene

GeneLoc Exon Structure for
COA6
ECgene alternative splicing isoforms for
COA6

Expression for COA6 Gene

mRNA expression in normal human tissues for COA6 Gene

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for COA6 Gene

SOURCE GeneReport for Unigene cluster for COA6 Gene Hs.23198

genes like me logo Genes that share expressions with COA6: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for COA6 Gene

Orthologs for COA6 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for COA6 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia COA6 36
  • 57 (a)
OneToOne
dog
(Canis familiaris)
Mammalia COA6 36
  • 77 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Coa6 16
Coa6 36
  • 80 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 85 (a)
OneToMany
-- 36
  • 84 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia COA6 36
  • 68 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.1651 35
zebrafish
(Danio rerio)
Actinopterygii COA6 36
  • 52 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG42376 36
  • 43 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes -- 38
Species with no ortholog for COA6:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • cow (Bos Taurus)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for COA6 Gene

ENSEMBL:
Gene Tree for COA6 (if available)
TreeFam:
Gene Tree for COA6 (if available)

Paralogs for COA6 Gene

No data available for Paralogs for COA6 Gene

Variants for COA6 Gene

Sequence variations from dbSNP and Humsavar for COA6 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type MAF
rs2752 -- 234,378,125(-) AATAC(G/T)CTTTT intron-variant
rs2991959 -- 234,376,808(+) AAATG(C/T)CCGTG intron-variant
rs2991960 -- 234,383,372(+) CACAC(C/T)GGGGC intron-variant
rs3041202 -- 234,383,032(+) agaga(-/GA)aggaa intron-variant
rs4477318 -- 234,381,481(+) AGAGG(A/T)TGGAC intron-variant

Relevant External Links for COA6 Gene

HapMap Linkage Disequilibrium report
COA6
Human Gene Mutation Database (HGMD)
COA6

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for COA6 Gene

Disorders for COA6 Gene

No disorders were found for COA6 Gene.

No data available for UniProtKB/Swiss-Prot for COA6 Gene

Publications for COA6 Gene

  1. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4
  2. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory S.G. … Bentley D.R. (Nature 2006) 3 4
  3. Iterative orthology prediction uncovers new mitochondrial proteins and identifies C12orf62 as the human ortholog of COX14, a protein involved in the assembly of cytochrome c oxidase. (PMID: 22356826) Szklarczyk R. … Huynen M.A. (Genome Biol. 2012) 3 4
  4. Intermembrane space proteome of yeast mitochondria. (PMID: 22984289) VAPgtle F.N. … Meisinger C. (Mol. Cell Proteomics 2012) 2 3
  5. Mutations in COA6 cause Cytochrome c Oxidase Deficiency and Neonatal Hypertrophic Cardiomyopathy. (PMID: 25339201) Baertling F. … Rodenburg R.J. (Hum. Mutat. 2014) 2 3

Products for COA6 Gene

Sources for COA6 Gene

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