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Aliases for COA5 Gene

Aliases for COA5 Gene

  • Cytochrome C Oxidase Assembly Factor 5 2 3
  • C2orf64 3 4 6
  • Pet191 3 6
  • Chromosome 2 Open Reading Frame 64 2
  • Protein C2orf64 3
  • 6330578E17Rik 3

External Ids for COA5 Gene

Previous Symbols for COA5 Gene

  • C2orf64

Summaries for COA5 Gene

Entrez Gene Summary for COA5 Gene

  • 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]

GeneCards Summary for COA5 Gene

COA5 (Cytochrome C Oxidase Assembly Factor 5) is a Protein Coding gene. Diseases associated with COA5 include mitochondrial complex iv deficiency and isolated cytochrome c oxidase deficiency.

UniProtKB/Swiss-Prot for COA5 Gene

  • Involved in an early step of the mitochondrial complex IV assembly process.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for COA5 Gene

Genomics for COA5 Gene

Genomic Location for COA5 Gene

Start:
98,599,310 bp from pter
End:
98,608,518 bp from pter
Size:
9,209 bases
Orientation:
Minus strand

Genomic View for COA5 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for COA5 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for COA5 Gene

No data available for Regulatory Elements for COA5 Gene

Proteins for COA5 Gene

  • Protein details for COA5 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q86WW8-COA5_HUMAN
    Recommended name:
    Cytochrome c oxidase assembly factor 5
    Protein Accession:
    Q86WW8
    Secondary Accessions:

    Protein attributes for COA5 Gene

    Size:
    74 amino acids
    Molecular mass:
    8376 Da
    Quaternary structure:
    No Data Available

neXtProt entry for COA5 Gene

Proteomics data for COA5 Gene at MOPED

Post-translational modifications for COA5 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for COA5 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for COA5 Gene

Domains for COA5 Gene

Gene Families for COA5 Gene

HGNC:
  • MITOAF :Mitochondrial respiratory chain complex assembly factors

Protein Domains for COA5 Gene

InterPro:
ProtoNet:

UniProtKB/Swiss-Prot:

COA5_HUMAN
Family:
  • Belongs to the PET191 family.:
    • Q86WW8
genes like me logo Genes that share domains with COA5: view

Function for COA5 Gene

Molecular function for COA5 Gene

UniProtKB/Swiss-Prot Function: Involved in an early step of the mitochondrial complex IV assembly process.

Gene Ontology (GO) - Molecular Function for COA5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25416956
genes like me logo Genes that share ontologies with COA5: view

No data available for Enzyme Numbers (IUBMB) , Phenotypes , Animal Models , miRNA , Transcription Factor Targeting and HOMER Transcription for COA5 Gene

Localization for COA5 Gene

Gene Ontology (GO) - Cellular Components for COA5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IDA --
genes like me logo Genes that share ontologies with COA5: view

Pathways for COA5 Gene

SuperPathways for COA5 Gene

No Data Available

Interacting Proteins for COA5 Gene

Gene Ontology (GO) - Biological Process for COA5 Gene

None

No data available for Pathways by source for COA5 Gene

Transcripts for COA5 Gene

mRNA/cDNA for COA5 Gene

(1) REFSEQ mRNAs :
(2) Additional mRNA sequences :
(5) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for COA5 Gene

Cytochrome c oxidase assembly factor 5:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for COA5 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3 ^ 4a · 4b ^ 5a · 5b · 5c
SP1: - - - -
SP2: - -
SP3: - - -
SP4: -
SP5: - -

Relevant External Links for COA5 Gene

GeneLoc Exon Structure for
COA5
ECgene alternative splicing isoforms for
COA5

Expression for COA5 Gene

mRNA expression in normal human tissues for COA5 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for COA5 Gene

SOURCE GeneReport for Unigene cluster for COA5 Gene Hs.596537

genes like me logo Genes that share expressions with COA5: view

Orthologs for COA5 Gene

This gene was present in the common ancestor of animals.

Orthologs for COA5 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia COA5 36
  • 100 (n)
  • 100 (a)
COA5 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia COA5 36
  • 87.84 (n)
  • 82.43 (a)
COA5 37
  • 82 (a)
OneToOne
dog
(Canis familiaris)
Mammalia COA5 36
  • 88.74 (n)
  • 86.49 (a)
COA5 37
  • 74 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Coa5 36
  • 85.59 (n)
  • 82.43 (a)
Coa5 16
Coa5 37
  • 82 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia COA5 37
  • 80 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Coa5 36
  • 86.49 (n)
  • 82.43 (a)
chicken
(Gallus gallus)
Aves COA5 36
  • 71.62 (n)
  • 70.27 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia coa5 36
  • 72.97 (n)
  • 72.97 (a)
zebrafish
(Danio rerio)
Actinopterygii coa5 36
  • 67.12 (n)
  • 72.6 (a)
coa5 37
  • 71 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG13018 37
  • 52 (a)
OneToOne
Species with no ortholog for COA5:
  • 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)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • 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)
  • lizard (Anolis carolinensis)
  • 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)
  • 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 COA5 Gene

ENSEMBL:
Gene Tree for COA5 (if available)
TreeFam:
Gene Tree for COA5 (if available)

Paralogs for COA5 Gene

Pseudogenes.org Pseudogenes for COA5 Gene

genes like me logo Genes that share paralogs with COA5: view

No data available for Paralogs for COA5 Gene

Variants for COA5 Gene

Sequence variations from dbSNP and Humsavar for COA5 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type MAF
rs1400067 -- 98,606,093(+) TCAGG(G/T)GGGTT intron-variant
rs1801398 -- 98,599,493(-) TTTTC(A/C)CCAGG utr-variant-3-prime
rs4851144 -- 98,604,244(+) CAAAG(C/T)ACAAA intron-variant
rs4851145 -- 98,606,453(+) GAGCA(C/T)TGGTA intron-variant
rs6542834 -- 98,605,476(+) GTCTG(C/T)GTTCA intron-variant

Relevant External Links for COA5 Gene

HapMap Linkage Disequilibrium report
COA5
Human Gene Mutation Database (HGMD)
COA5

No data available for Structural Variations from Database of Genomic Variants (DGV) for COA5 Gene

Disorders for COA5 Gene

(1) OMIM Diseases for COA5 Gene (613920)

UniProtKB/Swiss-Prot

COA5_HUMAN
  • Mitochondrial complex IV deficiency (MT-C4D) [MIM:220110]: A disorder of the mitochondrial respiratory chain with heterogeneous clinical manifestations, ranging from isolated myopathy to severe multisystem disease affecting several tissues and organs. Features include hypertrophic cardiomyopathy, hepatomegaly and liver dysfunction, hypotonia, muscle weakness, exercise intolerance, developmental delay, delayed motor development and mental retardation. Some affected individuals manifest a fatal hypertrophic cardiomyopathy resulting in neonatal death. A subset of patients manifest Leigh syndrome. {ECO:0000269 PubMed:21457908}. Note=The disease is caused by mutations affecting the gene represented in this entry.
genes like me logo Genes that share disorders with COA5: view

Publications for COA5 Gene

  1. A mutation in C2orf64 causes impaired cytochrome c oxidase assembly and mitochondrial cardiomyopathy. (PMID: 21457908) Huigsloot M. … Rodenburg R.J. (Am. J. Hum. Genet. 2011) 2 3 4
  2. Interactions of pathological hallmark proteins: tubulin polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PMID: 21832049) OlA!h J. … OvA!di J. (J. Biol. Chem. 2011) 3
  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. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T. … Vidal M. (Cell 2014) 3
  5. 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) 4

Products for COA5 Gene

Sources for COA5 Gene

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