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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.

Additional gene information for COA3 Gene

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

Genomics for COA3 Gene

GeneHancer (GH) Regulatory Elements for COA3 Gene

Promoters and enhancers for COA3 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
GH17I042796 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 550.8 +0.8 785 2.8 HDGF FOXA2 MLX ZFP64 ARID4B SIN3A DMAP1 ZNF2 IRF4 YY1 CNTD1 COA3 ENSG00000267340 PLEKHH3 NKIRAS2 MEOX1 HMGN2P15 RAMP2-AS1 ENSG00000267765 PTP4A2P1
GH17I042772 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 11.9 +24.3 24311 4 MLX ZFP64 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF143 SP3 VPS25 HMGN1P29 DHX8 ENSG00000267758 LINC00910 HMGN2P15 NBR2 NKIRAS2 CNTNAP1 MEOX1
GH17I042832 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 11.6 -34.9 -34916 3.1 HDGF PKNOX1 CLOCK FOXA2 MLX ARNT ZFP64 ARID4B SIN3A DMAP1 BECN1 PSME3 NKIRAS2 MEOX1 ENSG00000212149 PTGES3L-AARSD1 RPL27 CNTD1 COA3 STAT3
GH17I042823 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 12 -25.4 -25352 1.7 HDGF MLX ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 POLR2B MIR6781 PSME3 BECN1 CNTD1 COA3 AOC2 AOC3 VPS25 RAMP2-AS1 RAMP2
GH17I042576 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 10 +220.5 220541 4.2 HDGF PKNOX1 FOXA2 MLX ARNT ZFP64 ARID4B SIN3A DMAP1 ZNF2 GC17P042577 GC17P042580 PSMC3IP DHX8 HMGN1P29 ENSG00000267758 TUBG2 NBR2 MLX STAT5A
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around COA3 on UCSC Golden Path with GeneCards custom track

Genomic Locations for COA3 Gene

Genomic Locations for COA3 Gene
chr17:42,795,147-42,798,725
(GRCh38/hg38)
Size:
3,579 bases
Orientation:
Minus strand
chr17:40,947,165-40,950,722
(GRCh37/hg19)

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

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

Gene 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

Animal Model Products

CRISPR Products

miRNA for COA3 Gene

miRTarBase miRNAs that target COA3

Inhibitory RNA Products

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

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for COA3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IDA,IEA --
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

Drugs & Compounds for COA3 Gene

No Compound Related Data Available

Transcripts for COA3 Gene

mRNA/cDNA for COA3 Gene

Unigene Clusters for COA3 Gene

Cytochrome c oxidase assembly factor 3:
Representative Sequences:

CRISPR Products

Inhibitory RNA 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 CGAP 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

Evidence on tissue expression from TISSUES for COA3 Gene

  • Blood(4.1)
  • Stomach(3)
  • Kidney(2.9)
  • Muscle(2.9)
  • Nervous system(2.9)
  • Liver(2.6)
  • Heart(2.5)
  • Intestine(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for COA3 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
  • urinary
Organs:
Head and neck:
  • brain
  • cerebrospinal fluid
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • head
  • meninges
  • neck
Thorax:
  • bronchus
  • heart
  • heart valve
  • lung
  • trachea
Abdomen:
  • kidney
  • liver
General:
  • blood
  • blood vessel
  • coagulation system
  • peripheral nervous system
  • red blood cell
  • skin
genes like me logo Genes that share expression patterns with COA3: 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 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 33 34
  • 99.69 (n)
cow
(Bos Taurus)
Mammalia COA3 33 34
  • 84.76 (n)
dog
(Canis familiaris)
Mammalia CCDC56 33 34
  • 84.76 (n)
-- 34
  • 77 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Coa3 33 16 34
  • 83.15 (n)
rat
(Rattus norvegicus)
Mammalia Coa3 33
  • 83.15 (n)
oppossum
(Monodelphis domestica)
Mammalia COA3 34
  • 74 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia COA3 34
  • 72 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ccdc56 33
  • 64.63 (n)
zebrafish
(Danio rerio)
Actinopterygii coa3 33 34
  • 61.11 (n)
COA3 (2 of 2) 34
  • 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 Variation AA Info Type
rs139877390 pathogenic, Cytochrome-c oxidase deficiency 42,798,167(-) T/C coding_sequence_variant, missense_variant
rs757472611 pathogenic, Cytochrome-c oxidase deficiency 42,798,483(-) GGG/GGGG coding_sequence_variant, frameshift
rs1000388767 -- 42,800,324(-) T/C upstream_transcript_variant
rs1000665020 -- 42,799,680(-) A/T upstream_transcript_variant
rs1001127334 -- 42,798,636(-) C/G coding_sequence_variant, missense_variant

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)

Additional Variant Information 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
- elite association - COSMIC cancer census association via MalaCards
Search COA3 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for 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 reports 2015) 3 4 58
  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 MA (Genome biology 2012) 2 3 58
  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 (The Journal of biological chemistry 2012) 2 3 58
  4. MITRAC links mitochondrial protein translocation to respiratory-chain assembly and translational regulation. (PMID: 23260140) Mick DU … Rehling P (Cell 2012) 3 4 58
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58

Products for COA3 Gene

Sources for COA3 Gene

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