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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 Metabolism of proteins and Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.. Gene Ontology (GO) annotations related to this gene include 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.

Additional gene information for COA6 Gene

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

Genomics for COA6 Gene

GeneHancer (GH) Regulatory Elements for COA6 Gene

Promoters and enhancers for COA6 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01J234368 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 697.9 -1.5 -1451 6 MLX DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF143 SP3 PPARGC1A COA6 LOC101927765 ENSG00000273367 ARID4B IRF2BP2 LINC01354 GGPS1 RPS15P2
GH01J234356 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE 650.4 -16.3 -16343 1 ELF3 RB1 ARID4B SIN3A DMAP1 KLF5 ZBTB40 YY1 ZNF335 ELK1 GC01M234357 RPS15P2 ENSG00000236358 COA6 LOC101927765
GH01J234398 Enhancer 1.3 FANTOM5 Ensembl ENCODE 22.3 +25.4 25407 1.5 PKNOX1 BATF ZNF766 ATF7 BCLAF1 RUNX3 CREM JUNB ELF1 PCBP2 LOC101927765 COA6 PIR42213 TARBP1
GH01J234313 Enhancer 1.4 FANTOM5 Ensembl ENCODE 11.1 -58.6 -58641 3.5 FOXA2 MLX ARID4B DMAP1 ETS1 YY1 NFKBIZ RXRA SP5 MXD4 SLC35F3 RPS15P2 ENSG00000236358 COA6 LOC101927765 LOC102724100 IRF2BP2 MIR4671
GH01J234326 Enhancer 1 Ensembl ENCODE 11 -46.7 -46654 1.2 MZF1 ZNF2 RAD21 ZNF366 ZNF350 ZNF143 ATF7 CREM SMARCA5 ZNF654 ENSG00000236358 RPS15P2 COA6 LOC101927765 LOC102724100 MIR4671
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around COA6 on UCSC Golden Path with GeneCards custom track

Genomic Locations for COA6 Gene

Genomic Locations for COA6 Gene
chr1:234,373,437-234,384,049
(GRCh38/hg38)
Size:
10,613 bases
Orientation:
Plus strand
chr1:234,509,202-234,519,795
(GRCh37/hg19)

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). Found in a complex with TMEM177, COX20, MT-CO2/COX2, COX18, SCO1 and SCO2 (PubMed:29154948). Interacts with MT-CO2/COX2 and SCO2 (PubMed:25959673). Interacts with SCO1 (PubMed:26160915). Interacts with COX20 in a MT-CO2/COX2- and COX18-dependent manner (PubMed:29154948, PubMed:28330871). Interacts with COX16 (PubMed:29381136).
    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 Lys110 and posLast=9696
  • 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

Gene Families for COA6 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for COA6 Gene

Graphical View of Domain Structure for InterPro Entry

Q5JTJ3

UniProtKB/Swiss-Prot:

COA6_HUMAN :
  • Belongs to the cytochrome c oxidase subunit 6B family.
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:0003723 RNA binding HDA 22658674
GO:0005507 copper ion binding IDA 26160915
GO:0005515 protein binding IPI 25959673
genes like me logo Genes that share ontologies with COA6: view

Phenotypes for COA6 Gene

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

Clone Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , 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

Subcellular locations from the

Human Protein Atlas (HPA)

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
1 KEGG pathway 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
genes like me logo Genes that share ontologies with COA6: view

No data available for SIGNOR curated interactions for COA6 Gene

Drugs & Compounds for COA6 Gene

No Compound Related Data Available

Transcripts for COA6 Gene

mRNA/cDNA for COA6 Gene

Unigene Clusters for COA6 Gene

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

Clone 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 CGAP 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 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

Phenotype-based relationships between genes and organs from Gene ORGANizer for COA6 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cerebrospinal fluid
  • chin
  • ear
  • eye
  • face
  • head
  • meninges
  • neck
  • skull
Thorax:
  • heart
  • heart valve
  • lung
Abdomen:
  • liver
General:
  • spinal cord
genes like me logo Genes that share expression patterns with COA6: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Evidence on tissue expression from TISSUES 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 -- 34
  • 85 (a)
OneToMany
-- 34
  • 84 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Coa6 34
  • 80 (a)
OneToOne
dog
(Canis familiaris)
Mammalia COA6 34
  • 77 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia COA6 34
  • 57 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia COA6 34
  • 68 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.1651 33
zebrafish
(Danio rerio)
Actinopterygii COA6 34
  • 52 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG42376 34
  • 43 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes COA6 36
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)
Aminode:
Evolutionary constrained regions (ECRs) for COA6: view image

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 Variation AA Info Type
rs146440690 pathogenic, Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4 234,374,366(+) G/T coding_sequence_variant, stop_gained
rs875989827 pathogenic, Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4, Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4 (CEMCOX4) [MIM:616501] 234,374,303(+) T/C coding_sequence_variant, missense_variant
VAR_075046 Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4 (CEMCOX4) [MIM:616501] p.Trp59Cys
rs147202905 likely-benign, not specified 234,373,822(+) C/G 5_prime_UTR_variant, coding_sequence_variant, intron_variant, missense_variant
rs373436327 likely-benign, not specified 234,373,754(+) C/A 5_prime_UTR_variant, coding_sequence_variant, intron_variant, synonymous_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)

Additional Variant Information for COA6 Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for COA6 Gene

MalaCards: The human disease database

(5) MalaCards diseases for COA6 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, and GeneCards

- 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, ECO:0000269 PubMed:25959673}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for 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 RJ (Human mutation 2015) 2 3 4 58
  2. COX16 promotes COX2 metallation and assembly during respiratory complex IV biogenesis. (PMID: 29381136) Aich A … Rehling P (eLife 2018) 3 4 58
  3. The mitochondrial TMEM177 associates with COX20 during COX2 biogenesis. (PMID: 29154948) Lorenzi I … Rehling P (Biochimica et biophysica acta 2018) 3 4 58
  4. Human mitochondrial cytochrome c oxidase assembly factor COX18 acts transiently as a membrane insertase within the subunit 2 maturation module. (PMID: 28330871) Bourens M … Barrientos A (The Journal of biological chemistry 2017) 3 4 58
  5. 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 metabolism 2015) 3 4 58

Products for COA6 Gene

Sources for COA6 Gene

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