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Aliases for COA3 Gene

Aliases for COA3 Gene

  • Cytochrome C Oxidase Assembly Factor 3 2 3 5
  • Mitochondrial Translation Regulation Assembly Intermediate Of Cytochrome C Oxidase Protein Of 12 KDa 3 4
  • Coiled-Coil Domain-Containing Protein 56 3 4
  • MITRAC12 3 4
  • CCDC56 3 4
  • Cytochrome C Oxidase Assembly Protein 3 Homolog, Mitochondrial 3
  • Cytochrome C Oxidase Assembly Factor 3 Homolog, Mitochondrial 3
  • Coiled-Coil Domain Containing 56 2
  • HSPC009 3
  • COX25 3

External Ids for COA3 Gene

Previous HGNC Symbols for COA3 Gene

  • CCDC56

Previous GeneCards Identifiers for COA3 Gene

  • GC17M040950

Summaries for COA3 Gene

Entrez Gene Summary for COA3 Gene

  • This gene encodes a member of the cytochrome c oxidase assembly factor family. Studies of a related gene in fly suggest that the encoded protein is localized to mitochondria and is essential for cytochrome c oxidase function. [provided by RefSeq, Nov 2012]

GeneCards Summary for COA3 Gene

COA3 (Cytochrome C Oxidase Assembly Factor 3) is a Protein Coding gene. Diseases associated with COA3 include Mitochondrial Complex Iv Deficiency.

UniProtKB/Swiss-Prot for COA3 Gene

  • Core component of the MITRAC (mitochondrial translation regulation assembly intermediate of cytochrome c oxidase complex) complex, that regulates cytochrome c oxidase assembly. MITRAC complexes regulate both translation of mitochondrial encoded components and assembly of nuclear-encoded components imported in mitochondrion. Required for efficient translation of MT-CO1 and mitochondrial respiratory chain complex IV assembly.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for COA3 Gene

Genomics for COA3 Gene

Regulatory Elements for COA3 Gene

Enhancers for COA3 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
GH17F042885 1.5 FANTOM5 Ensembl ENCODE 10.2 -87.9 -87876 1.6 MLX ARID4B DMAP1 ZNF48 YY1 SLC30A9 SP5 MIER2 PPARG KAT8 CNTD1 COA3 MLX STAT3 EZH1 NBR1 BECN1 RUNDC1 TMEM106A RNU6-287P
GH17F042772 1.2 ENCODE 11.9 +24.3 24311 4.0 HDGF PKNOX1 ARNT CREB3L1 MLX WRNIP1 ZFP64 ARID4B SIN3A DMAP1 HMGN2P15 LINC00910 AOC4P CNTNAP1 MEOX1 DHX8 HMGN1P29 RAMP2-AS1 NAGLU CCR10
GH17F042928 1.3 Ensembl ENCODE 10.8 -130.3 -130343 1.8 HDGF ATF1 ARNT ZFP64 ARID4B DMAP1 SLC30A9 GATA2 ZNF143 JUNB G6PC LINC00671 RNU6-287P AOC3 AOC2 CNTD1 COA3 VPS25 RAMP2-AS1 HMGN2P15
GH17F042823 1.1 ENCODE 11.9 -25.4 -25353 1.7 HDGF MLX ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 ZNF207 ZNF143 CNTD1 COA3 AOC2 AOC3 VPS25 RAMP2-AS1 RAMP2 HMGN2P15 WNK4 AARSD1
GH17F042832 1.1 ENCODE 11.6 -34.9 -34917 3.1 HDGF PKNOX1 ARNT CREB3L1 MLX ZFP64 ARID4B SIN3A DMAP1 ZNF2 RPL27 AOC4P MEOX1 NAGLU ENSG00000212149 AOC3 PTGES3L-AARSD1 CNTD1 COA3 LOC108783654
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around COA3 on UCSC Golden Path with GeneCards custom track

Promoters for COA3 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001535981 125 1200 HDGF CREB3L1 MLX ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9

Genomic Location for COA3 Gene

Chromosome:
17
Start:
42,795,147 bp from pter
End:
42,798,725 bp from pter
Size:
3,579 bases
Orientation:
Minus strand

Genomic View for COA3 Gene

Genes around COA3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
COA3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for COA3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for COA3 Gene

Proteins for COA3 Gene

  • Protein details for COA3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y2R0-COA3_HUMAN
    Recommended name:
    Cytochrome c oxidase assembly factor 3 homolog, mitochondrial
    Protein Accession:
    Q9Y2R0
    Secondary Accessions:
    • A8K498

    Protein attributes for COA3 Gene

    Size:
    106 amino acids
    Molecular mass:
    11731 Da
    Quaternary structure:
    • Along with COX14, core component of the MITRAC (mitochondrial translation regulation assembly intermediate of cytochrome c oxidase complex) complex (Probable) (PubMed:23260140). Interacts with MT-CO1/COX1, SMIM20, SURF1 and TIMM21 (PubMed:26321642).

neXtProt entry for COA3 Gene

Post-translational modifications for COA3 Gene

  • Ubiquitination at Lys 48
  • Modification sites at PhosphoSitePlus

Other Protein References for COA3 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for COA3 Gene

Domains & Families for COA3 Gene

Protein Domains for COA3 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for COA3 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9Y2R0

UniProtKB/Swiss-Prot:

COA3_HUMAN :
  • Belongs to the COA3 family.
Family:
  • Belongs to the COA3 family.
genes like me logo Genes that share domains with COA3: view

Function for COA3 Gene

Molecular function for COA3 Gene

UniProtKB/Swiss-Prot Function:
Core component of the MITRAC (mitochondrial translation regulation assembly intermediate of cytochrome c oxidase complex) complex, that regulates cytochrome c oxidase assembly. MITRAC complexes regulate both translation of mitochondrial encoded components and assembly of nuclear-encoded components imported in mitochondrion. Required for efficient translation of MT-CO1 and mitochondrial respiratory chain complex IV assembly.

Gene Ontology (GO) - Molecular Function for COA3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 23260140
genes like me logo Genes that share ontologies with COA3: view
genes like me logo Genes that share phenotypes with COA3: view

Human Phenotype Ontology for COA3 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

miRNA for COA3 Gene

miRTarBase miRNAs that target COA3

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for COA3 Gene

Localization for COA3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for COA3 Gene

Mitochondrion inner membrane; Single-pass membrane protein.

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 COA3 gene
Compartment Confidence
mitochondrion 5
plasma membrane 2
nucleus 1
cytosol 1

Gene Ontology (GO) - Cellular Components for COA3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IDA --
GO:0005743 mitochondrial inner membrane IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0031305 integral component of mitochondrial inner membrane IDA 23260140
genes like me logo Genes that share ontologies with COA3: view

Pathways & Interactions for COA3 Gene

No Data Available

Gene Ontology (GO) - Biological Process for COA3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0033617 mitochondrial respiratory chain complex IV assembly IMP 23260140
GO:0070131 positive regulation of mitochondrial translation IMP 23260140
genes like me logo Genes that share ontologies with COA3: view

No data available for Pathways by source and SIGNOR curated interactions for COA3 Gene

Transcripts for COA3 Gene

mRNA/cDNA for COA3 Gene

Unigene Clusters for COA3 Gene

Cytochrome c oxidase assembly factor 3:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for COA3 Gene

No ASD Table

Relevant External Links for COA3 Gene

GeneLoc Exon Structure for
COA3
ECgene alternative splicing isoforms for
COA3

Expression for COA3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for COA3 Gene

Protein differential expression in normal tissues from HIPED for COA3 Gene

This gene is overexpressed in Bone (20.7) and Peripheral blood mononuclear cells (7.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for COA3 Gene



Protein tissue co-expression partners for COA3 Gene

NURSA nuclear receptor signaling pathways regulating expression of COA3 Gene:

COA3

SOURCE GeneReport for Unigene cluster for COA3 Gene:

Hs.16059
genes like me logo Genes that share expression patterns with COA3: 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 COA3 Gene

Orthologs for COA3 Gene

This gene was present in the common ancestor of chordates.

Orthologs for COA3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CCDC56 34 35
  • 99.69 (n)
cow
(Bos Taurus)
Mammalia COA3 34 35
  • 84.76 (n)
dog
(Canis familiaris)
Mammalia CCDC56 34 35
  • 84.76 (n)
-- 35
  • 77 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Coa3 34 16 35
  • 83.15 (n)
rat
(Rattus norvegicus)
Mammalia Coa3 34
  • 83.15 (n)
oppossum
(Monodelphis domestica)
Mammalia COA3 35
  • 74 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia COA3 35
  • 72 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ccdc56 34
  • 64.63 (n)
zebrafish
(Danio rerio)
Actinopterygii coa3 34 35
  • 61.11 (n)
COA3 (2 of 2) 35
  • 27 (a)
OneToMany
Species where no ortholog for COA3 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)
  • baker's yeast (Saccharomyces cerevisiae)
  • 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)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • 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)
  • 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 COA3 Gene

ENSEMBL:
Gene Tree for COA3 (if available)
TreeFam:
Gene Tree for COA3 (if available)

Paralogs for COA3 Gene

No data available for Paralogs for COA3 Gene

Variants for COA3 Gene

Sequence variations from dbSNP and Humsavar for COA3 Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type
rs139877390 Pathogenic 42,798,167(+) AACCA(C/T)CTGGG upstream-variant-2KB, reference, missense
rs757472611 Pathogenic 42,798,482(+) CACCA(-/G)GGGCC upstream-variant-2KB, reference, frameshift-variant
rs111461244 -- 42,799,761(+) AAAAA(A/G)AAAAA intron-variant, upstream-variant-2KB
rs111807175 -- 42,798,380(+) CCCCA(A/G)AATTA intron-variant, upstream-variant-2KB
rs112986852 -- 42,799,387(+) ATAAG(A/T)CACAA intron-variant, upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for COA3 Gene

Variant ID Type Subtype PubMed ID
esv33998 OTHER inversion 15654335
nsv1146669 OTHER inversion 26484159
nsv833450 CNV loss 17160897

Variation tolerance for COA3 Gene

Residual Variation Intolerance Score: 41.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.19; 4.25% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for COA3 Gene

Human Gene Mutation Database (HGMD)
COA3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
COA3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for COA3 Gene

Disorders for COA3 Gene

MalaCards: The human disease database

(1) MalaCards diseases for COA3 Gene - From: ClinVar and Orphanet

Disorder Aliases PubMed IDs
mitochondrial complex iv deficiency
  • cytochrome-c oxidase deficiency disease
- elite association - COSMIC cancer census association via MalaCards
Search COA3 in MalaCards View complete list of genes associated with diseases

Relevant External Links for COA3

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
COA3
genes like me logo Genes that share disorders with COA3: view

No data available for UniProtKB/Swiss-Prot and Genatlas for COA3 Gene

Publications for COA3 Gene

  1. MITRAC7 Acts as a COX1-Specific Chaperone and Reveals a Checkpoint during Cytochrome c Oxidase Assembly. (PMID: 26321642) Dennerlein S. … Rehling P. (Cell Rep 2015) 3 4 64
  2. 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) 2 3 64
  3. Coiled coil domain-containing protein 56 (CCDC56) is a novel mitochondrial protein essential for cytochrome c oxidase function. (PMID: 22610097) Peralta S. … Garesse R. (J. Biol. Chem. 2012) 2 3 64
  4. MITRAC links mitochondrial protein translocation to respiratory-chain assembly and translational regulation. (PMID: 23260140) Mick D.U. … Rehling P. (Cell 2012) 3 4 64
  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) 3 4 64

Products for COA3 Gene

Sources for COA3 Gene

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