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Aliases for COA6 Gene

Aliases for COA6 Gene

  • Cytochrome C Oxidase Assembly Factor 6 2 3 5
  • C1orf31 3 4
  • 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
  • CEMCOX4 3

External Ids for COA6 Gene

Previous HGNC Symbols for COA6 Gene

  • C1orf31

Previous GeneCards Identifiers for COA6 Gene

  • GC01P234510

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. Diseases associated with COA6 include Cardioencephalomyopathy, Fatal Infantile, Due To Cytochrome C Oxidase Deficiency 4 and Fatal Infantile Cytochrome C Oxidase Deficiency. Among its related pathways are Mitochondrial protein import and Metabolism of proteins. GO annotations related to this gene include poly(A) RNA binding and cytochrome-c oxidase activity.

UniProtKB/Swiss-Prot for COA6 Gene

  • Involved in the maturation of the mitochondrial respiratory chain complex IV subunit MT-CO2/COX2. Thereby, may regulate early steps of complex IV assembly. Mitochondrial respiratory chain complex IV or cytochrome c oxidase is the component of the respiratory chain that catalyzes the transfer of electrons from intermembrane space cytochrome c to molecular oxygen in the matrix and as a consequence contributes to the proton gradient involved in mitochondrial ATP synthesis. May also be required for efficient formation of respiratory supercomplexes comprised of complexes III and IV.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for COA6 Gene

Genomics for COA6 Gene

Regulatory Elements for COA6 Gene

Enhancers for COA6 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01F234368 1.5 Ensembl ENCODE 47.9 -1.5 -1452 6.0 CREB3L1 MLX FEZF1 DMAP1 YY1 SLC30A9 ZNF416 ZNF143 ZNF548 ZNF263 COA6 LOC101927765 TBCE IRF2BP2 TOMM20 LINC01354 ENSG00000273367 RPS15P2
GH01F234398 1.6 FANTOM5 Ensembl ENCODE 22.2 +25.4 25408 1.5 PKNOX1 FEZF1 ZNF2 YY1 ZNF302 CBX5 JUNB ZNF488 TSHZ1 TBX21 LOC101927765 COA6 PIR42213
GH01F234396 0.8 Ensembl 24.4 +23.6 23564 0.4 PKNOX1 RAD21 ZNF48 YY1 ZNF324 ZNF335 ZNF366 ZBTB48 SCRT2 HNF4G COA6 LOC101927765 IRF2BP2 PIR42213
GH01F234313 1.6 FANTOM5 Ensembl ENCODE 11.1 -58.6 -58621 3.6 MLX ARID4B DMAP1 SP5 MXD4 MIER2 PPARG KAT8 MIER3 ETV4 SLC35F3 ENSG00000236358 RPS15P2 COA6 LOC101927765 LOC102724100 IRF2BP2 MIR4671
GH01F234400 1.1 Ensembl ENCODE 12.7 +27.7 27708 1.9 TBP IRF2 KLF1 MXI1 ZNF146 ATF1 ASH2L FEZF1 ZIC2 ZBTB40 LOC101927765 COA6 PIR42213
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around COA6 on UCSC Golden Path with GeneCards custom track

Promoters for COA6 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000083691 63 2601 CREB3L1 MLX FEZF1 DMAP1 YY1 SLC30A9 ZNF143 ZNF416 ZNF263 SP3

Genomic Location for COA6 Gene

Chromosome:
1
Start:
234,373,437 bp from pter
End:
234,384,049 bp from pter
Size:
10,613 bases
Orientation:
Plus strand

Genomic View for COA6 Gene

Genes around COA6 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
COA6 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for COA6 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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 (PubMed:22356826). Interacts with MT-CO2 (PubMed:25959673). Interacts with SCO2 (PubMed:25959673). Interacts with SCO1 (PubMed:26160915).
    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

Post-translational modifications for COA6 Gene

  • Ubiquitination at Lys 96 and Lys 110
  • Modification sites at PhosphoSitePlus

Other Protein References for COA6 Gene

No data available for DME Specific Peptides for COA6 Gene

Domains & Families for COA6 Gene

Protein Domains for COA6 Gene

Graphical View of Domain Structure for InterPro Entry

Q5JTJ3

UniProtKB/Swiss-Prot:

COA6_HUMAN :
  • Contains 1 CHCH (coiled coil-helix-coiled coil-helix) domain.
  • Belongs to the cytochrome c oxidase subunit 6B family.
Domain:
  • Contains 1 CHCH (coiled coil-helix-coiled coil-helix) domain.
Family:
  • Belongs to the cytochrome c oxidase subunit 6B family.
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

Molecular function for COA6 Gene

UniProtKB/Swiss-Prot Function:
Involved in the maturation of the mitochondrial respiratory chain complex IV subunit MT-CO2/COX2. Thereby, may regulate early steps of complex IV assembly. Mitochondrial respiratory chain complex IV or cytochrome c oxidase is the component of the respiratory chain that catalyzes the transfer of electrons from intermembrane space cytochrome c to molecular oxygen in the matrix and as a consequence contributes to the proton gradient involved in mitochondrial ATP synthesis. May also be required for efficient formation of respiratory supercomplexes comprised of complexes III and IV.

Gene Ontology (GO) - Molecular Function for COA6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004129 cytochrome-c oxidase activity IEA --
GO:0005507 copper ion binding IDA 26160915
GO:0005515 protein binding IPI 25959673
GO:0044822 poly(A) RNA binding IDA 22658674
genes like me logo Genes that share ontologies with COA6: view

Phenotypes for COA6 Gene

GenomeRNAi human phenotypes for COA6:
genes like me logo Genes that share phenotypes with COA6: view

Human Phenotype Ontology for COA6 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

miRNA for COA6 Gene

miRTarBase miRNAs that target COA6

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for COA6 Gene

Localization for COA6 Gene

Subcellular locations from UniProtKB/Swiss-Prot for COA6 Gene

Mitochondrion intermembrane space.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for COA6 gene
Compartment Confidence
mitochondrion 5
plasma membrane 2
extracellular 2
nucleus 2
cytosol 1

Gene Ontology (GO) - Cellular Components for COA6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion ISS --
GO:0005758 mitochondrial intermembrane space IEA,IDA 25339201
GO:0005886 plasma membrane IEA --
genes like me logo Genes that share ontologies with COA6: view

Pathways & Interactions for COA6 Gene

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

Pathways by source for COA6 Gene

2 Reactome pathways for COA6 Gene

Gene Ontology (GO) - Biological Process for COA6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008535 respiratory chain complex IV assembly IMP 24549041
GO:0042774 plasma membrane ATP synthesis coupled electron transport IMP 24549041
GO:1902600 hydrogen ion transmembrane transport IEA --
genes like me logo Genes that share ontologies with COA6: view

No data available for SIGNOR curated interactions for COA6 Gene

Transcripts for COA6 Gene

Unigene Clusters for COA6 Gene

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

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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 from GTEx, Illumina, BioGPS, and SAGE for COA6 Gene

Protein differential expression in normal tissues from HIPED for COA6 Gene

This gene is overexpressed in Stomach (7.8) and Pancreas (6.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for COA6 Gene



Protein tissue co-expression partners for COA6 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of COA6 Gene:

COA6

SOURCE GeneReport for Unigene cluster for COA6 Gene:

Hs.23198
genes like me logo Genes that share expression patterns with COA6: view

Primer Products

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
oppossum
(Monodelphis domestica)
Mammalia -- 35
  • 85 (a)
OneToMany
-- 35
  • 84 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Coa6 35
  • 80 (a)
OneToOne
dog
(Canis familiaris)
Mammalia COA6 35
  • 77 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia COA6 35
  • 57 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia COA6 35
  • 68 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.1651 34
zebrafish
(Danio rerio)
Actinopterygii COA6 35
  • 52 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG42376 35
  • 43 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes COA6 37
Species where no ortholog for COA6 was found in the sources mined by GeneCards:
  • 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
VAR_075046 Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4 (CEMCOX4) [MIM:616501]
VAR_075047 Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4 (CEMCOX4) [MIM:616501]
rs146440690 Pathogenic 234,374,366(+) CTTTC(G/T)AATCA upstream-variant-2KB, reference, stop-gained
rs875989827 Pathogenic 234,374,303(+) AGTAC(C/T)GGAAG upstream-variant-2KB, reference, missense
rs10429821 -- 234,376,725(+) GGGTC(C/T)CTTTA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for COA6 Gene

Variant ID Type Subtype PubMed ID
dgv585n100 CNV gain 25217958
nsv1140436 CNV tandem duplication 24896259
nsv159229 CNV deletion 16902084

Variation tolerance for COA6 Gene

Residual Variation Intolerance Score: 55.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.89; 18.47% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for COA6 Gene

Human Gene Mutation Database (HGMD)
COA6
SNPedia medical, phenotypic, and genealogical associations of SNPs for
COA6

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for COA6 Gene

Disorders for COA6 Gene

MalaCards: The human disease database

(6) MalaCards diseases for COA6 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4
  • cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2
fatal infantile cytochrome c oxidase deficiency
  • fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency
mitochondrial complex iv deficiency
  • cytochrome-c oxidase deficiency disease
cardioencephalomyopathy
cardiomyopathy
  • cardiomyopathies
- elite association - COSMIC cancer census association via MalaCards
Search COA6 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

COA6_HUMAN
  • Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4 (CEMCOX4) [MIM:616501]: An infantile disorder with a fatal course in the first weeks of life, characterized by hypertrophic cardiomyopathy, left ventricular non-compaction, lactic acidosis, metabolic hypotonia, and mitochondrial complex IV deficiency. {ECO:0000269 PubMed:24549041, ECO:0000269 PubMed:25339201}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for COA6

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
COA6
genes like me logo Genes that share disorders with COA6: view

No data available for Genatlas for COA6 Gene

Publications for COA6 Gene

  1. Mutations in COA6 cause Cytochrome c Oxidase Deficiency and Neonatal Hypertrophic Cardiomyopathy. (PMID: 25339201) Baertling F. … Rodenburg R.J. (Hum. Mutat. 2014) 2 3 4 64
  2. Cooperation between COA6 and SCO2 in COX2 maturation during cytochrome c oxidase assembly links two mitochondrial cardiomyopathies. (PMID: 25959673) Pacheu-Grau D. … Deckers M. (Cell Metab. 2015) 3 4 64
  3. COA6 is a mitochondrial complex IV assembly factor critical for biogenesis of mtDNA-encoded COX2. (PMID: 26160915) Stroud D.A. … Ryan M.T. (Hum. Mol. Genet. 2015) 3 4 64
  4. Copper supplementation restores cytochrome c oxidase assembly defect in a mitochondrial disease model of COA6 deficiency. (PMID: 24549041) Ghosh A. … Gohil V.M. (Hum. Mol. Genet. 2014) 3 4 64
  5. Intermembrane space proteome of yeast mitochondria. (PMID: 22984289) VAPgtle F.N. … Meisinger C. (Mol. Cell Proteomics 2012) 2 3 64

Products for COA6 Gene

Sources for COA6 Gene

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