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Aliases for COA1 Gene

Aliases for COA1 Gene

  • Cytochrome C Oxidase Assembly Factor 1 Homolog 2 3 3 5
  • Mitochondrial Translation Regulation Assembly Intermediate Of Cytochrome C Oxidase Protein Of 15 KDa 3 4
  • MITRAC15 3 4
  • C7orf44 3 4
  • Cytochrome C Oxidase Assembly Factor 1 Homolog (S. Cerevisiae) 2
  • Cytochrome C Oxidase Assembly Protein 1 Homolog 3
  • Chromosome 7 Open Reading Frame 44 2

External Ids for COA1 Gene

Previous HGNC Symbols for COA1 Gene

  • C7orf44

Previous GeneCards Identifiers for COA1 Gene

  • GC07M043648

Summaries for COA1 Gene

GeneCards Summary for COA1 Gene

COA1 (Cytochrome C Oxidase Assembly Factor 1 Homolog) is a Protein Coding gene. Among its related pathways are Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins..

UniProtKB/Swiss-Prot for COA1 Gene

  • 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 assembly of mitochondrial respiratory chain complex I and complex IV.

Additional gene information for COA1 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for COA1 Gene

Genomics for COA1 Gene

GeneHancer (GH) Regulatory Elements for COA1 Gene

Promoters and enhancers for COA1 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
GH07J043728 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 666.6 +0.1 81 2.5 CLOCK SMAD1 ARNT ARID4B SIN3A DMAP1 ZNF2 IRF4 YY1 POLR2B COA1 DDX56 ENSG00000228434 POLM STK17A BLVRA SPDYE1 TMED4 LINC00957 GC07M043624
GH07J043582 Promoter/Enhancer 2.8 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 27.1 +141.7 141703 11.1 HDGF PKNOX1 FOXA2 SMAD1 ARID4B SIN3A FEZF1 ZNF2 IRF4 YY1 STK17A COA1 DDX56 BLVRA POLM URGCP PIR39554
GH07J043642 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 23.7 +81.9 81935 10.4 HDGF PKNOX1 SIN3A IRF4 BRCA1 ETS1 ATF7 FOS RUNX3 DEK STK17A COA1 BLVRA TMED4 DDX56 ENSG00000241057 DBNL POLM GC07M043624
GH07J043567 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 21.6 +159.0 158997 6.6 ATF1 IRF4 ZNF766 FOS ATF7 RUNX3 JUNB ZNF592 MAFF SMARCA4 COA1 LUARIS BLVRA STK17A DBNL
GH07J043668 Enhancer 1.1 Ensembl ENCODE dbSUPER 28.8 +59.8 59835 1.9 SRF PKNOX1 NANOG JUNB MAFG BATF ZNF316 EGR1 POU5F1 FOSL2 COA1 STK17A BLVRA GC07M043624
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around COA1 on UCSC Golden Path with GeneCards custom track

Genomic Locations for COA1 Gene

Genomic Locations for COA1 Gene
chr7:43,608,452-43,729,717
(GRCh38/hg38)
Size:
121,266 bases
Orientation:
Minus strand
chr7:43,648,055-43,769,316
(GRCh37/hg19)

Genomic View for COA1 Gene

Genes around COA1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
COA1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for COA1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for COA1 Gene

Proteins for COA1 Gene

  • Protein details for COA1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9GZY4-COA1_HUMAN
    Recommended name:
    Cytochrome c oxidase assembly factor 1 homolog
    Protein Accession:
    Q9GZY4
    Secondary Accessions:
    • A6NJU8
    • A8KAH8
    • Q9HAB7
    • Q9NVD2

    Protein attributes for COA1 Gene

    Size:
    146 amino acids
    Molecular mass:
    16694 Da
    Quaternary structure:
    • Component of the MITRAC (mitochondrial translation regulation assembly intermediate of cytochrome c oxidase complex) complex, the core components of this complex being COA3/MITRAC12 and COX14. Interacts with COX17 and COA6.

neXtProt entry for COA1 Gene

Post-translational modifications for COA1 Gene

  • Ubiquitination at posLast=125125
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for COA1 Gene

Domains & Families for COA1 Gene

Gene Families for COA1 Gene

Protein Domains for COA1 Gene

InterPro:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

Q9GZY4

UniProtKB/Swiss-Prot:

COA1_HUMAN :
  • Belongs to the COA1 family.
Family:
  • Belongs to the COA1 family.
genes like me logo Genes that share domains with COA1: view

No data available for Suggested Antigen Peptide Sequences for COA1 Gene

Function for COA1 Gene

Molecular function for COA1 Gene

UniProtKB/Swiss-Prot Function:
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 assembly of mitochondrial respiratory chain complex I and complex IV.

Gene Ontology (GO) - Molecular Function for COA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding IBA --
GO:0003735 structural constituent of ribosome IBA --
genes like me logo Genes that share ontologies with COA1: view
genes like me logo Genes that share phenotypes with COA1: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for COA1

Clone Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for COA1 Gene

Localization for COA1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for COA1 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 COA1 gene
Compartment Confidence
mitochondrion 5
cytosol 5

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for COA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA,IDA --
GO:0005743 mitochondrial inner membrane IEA --
GO:0005829 cytosol IDA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with COA1: view

Pathways & Interactions for COA1 Gene

genes like me logo Genes that share pathways with COA1: view

Pathways by source for COA1 Gene

1 KEGG pathway for COA1 Gene

Gene Ontology (GO) - Biological Process for COA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006412 translation IBA --
GO:0032981 mitochondrial respiratory chain complex I assembly IMP 23260140
GO:0033617 mitochondrial respiratory chain complex IV assembly IMP 23260140
genes like me logo Genes that share ontologies with COA1: view

No data available for SIGNOR curated interactions for COA1 Gene

Drugs & Compounds for COA1 Gene

No Compound Related Data Available

Transcripts for COA1 Gene

Unigene Clusters for COA1 Gene

Cytochrome c oxidase assembly factor 1 homolog (S. cerevisiae):
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for COA1

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for COA1 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9a · 9b · 9c ^ 10a · 10b · 10c · 10d ^ 11a · 11b · 11c · 11d · 11e · 11f · 11g · 11h ^
SP1: - - - - - - - - - - - - - - - - - -
SP2: - - - - - - - - - - - - - - - - -
SP3: - - - - - - - - - - - - - - - - - -
SP4: - - - - - - - - - - - - - - - - - -
SP5: - - - - - - - - - - - - - - - - - - -
SP6: - - - - - - - - - - - - - - - -
SP7: - - - - - - - - - - - - - - - - - - - -
SP8: - - - - - - - - - - - - - - - - - - - -
SP9: - - - - - - - - - - - - - - - - - -
SP10: - - - - - - - - - - - - - - - - -
SP11: - - - - - - - - -
SP12: - - - - - - - - - - - - - - - -
SP13: - - - - - - - - - - - - - - - - - -
SP14: - - - - - - -
SP15: - - - - - - - - - - - - -
SP16: - - - - - - - - - - - -
SP17: -
SP18: - - - - - - - - - - - - -
SP19: - - - - - - -
SP20: - - - - - - - - - - - - - -
SP21: - - - -
SP22: - - - - -
SP23:
SP24: - - - - - - - - - - - -
SP25: - -
SP26:

ExUns: 12 ^ 13a · 13b · 13c · 13d ^ 14 ^ 15a · 15b · 15c ^ 16a · 16b · 16c · 16d · 16e · 16f
SP1: - - - - -
SP2: - - - - -
SP3: - - - - -
SP4: - - - - -
SP5: - - - - -
SP6: - -
SP7: - - - - -
SP8: - - - - -
SP9: - - - - - - -
SP10: - - - - -
SP11: - - - - -
SP12: - -
SP13:
SP14: - - - - -
SP15:
SP16:
SP17:
SP18:
SP19: - - - -
SP20:
SP21:
SP22: - - - - -
SP23:
SP24:
SP25:
SP26: - - -

Relevant External Links for COA1 Gene

GeneLoc Exon Structure for
COA1
ECgene alternative splicing isoforms for
COA1

Expression for COA1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for COA1 Gene

Protein differential expression in normal tissues from HIPED for COA1 Gene

This gene is overexpressed in Bone (22.8), Lung (13.6), Vitreous humor (8.7), and Fetal ovary (6.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for COA1 Gene



NURSA nuclear receptor signaling pathways regulating expression of COA1 Gene:

COA1

SOURCE GeneReport for Unigene cluster for COA1 Gene:

Hs.654779

Evidence on tissue expression from TISSUES for COA1 Gene

  • Skin(4.2)
  • Nervous system(3.6)
genes like me logo Genes that share expression patterns with COA1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for COA1 Gene

Orthologs for COA1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for COA1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia C7H7orf44 33
  • 99.09 (n)
C7ORF44 34
  • 98 (a)
OneToOne
dog
(Canis familiaris)
Mammalia COA1 34 33
  • 80.85 (n)
OneToOne
cow
(Bos Taurus)
Mammalia COA1 33
  • 79.35 (n)
FLJ10803 34
  • 71 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia COA1 34
  • 38 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia COA1 34
  • 42 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100492393 33
  • 56.64 (n)
zebrafish
(Danio rerio)
Actinopterygii rpl37 34
  • 40 (a)
OneToOne
Species where no ortholog for COA1 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)
  • mouse (Mus musculus)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • 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 COA1 Gene

ENSEMBL:
Gene Tree for COA1 (if available)
TreeFam:
Gene Tree for COA1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for COA1: view image

Paralogs for COA1 Gene

Pseudogenes.org Pseudogenes for COA1 Gene

genes like me logo Genes that share paralogs with COA1: view

No data available for Paralogs for COA1 Gene

Variants for COA1 Gene

Sequence variations from dbSNP and Humsavar for COA1 Gene

SNP ID Clin Chr 07 pos Variation AA Info Type
rs1000008037 -- 43,615,780(-) A/G genic_downstream_transcript_variant, intron_variant
rs1000027965 -- 43,713,844(-) G/C genic_upstream_transcript_variant, intron_variant
rs1000029352 -- 43,650,833(-) AGAAGAA/AGAA genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs1000079443 -- 43,704,547(-) G/A genic_upstream_transcript_variant, intron_variant
rs1000086702 -- 43,720,054(-) G/A genic_upstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for COA1 Gene

Variant ID Type Subtype PubMed ID
dgv1905e212 CNV loss 25503493
esv2673882 CNV deletion 23128226
esv2734316 CNV deletion 23290073
esv2734318 CNV deletion 23290073
esv3571825 CNV loss 25503493
esv3576355 CNV gain 25503493
esv3612996 CNV gain 21293372
esv3613000 CNV loss 21293372
esv3613001 CNV loss 21293372
esv997089 CNV deletion 20482838
nsv1124191 CNV deletion 24896259
nsv464441 CNV loss 19166990
nsv5721 CNV insertion 18451855
nsv606745 CNV loss 21841781

Variation tolerance for COA1 Gene

Residual Variation Intolerance Score: 78.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.29; 6.53% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for COA1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
COA1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for COA1 Gene

Disorders for COA1 Gene

Additional Disease Information for COA1

No disorders were found for COA1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for COA1 Gene

Publications for COA1 Gene

  1. 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 4 58
  2. MITRAC links mitochondrial protein translocation to respiratory-chain assembly and translational regulation. (PMID: 23260140) Mick DU … Rehling P (Cell 2012) 3 4 58
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  4. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58
  5. R2TP/Prefoldin-like component RUVBL1/RUVBL2 directly interacts with ZNHIT2 to regulate assembly of U5 small nuclear ribonucleoprotein. (PMID: 28561026) Cloutier P … Coulombe B (Nature communications 2017) 3 58

Products for COA1 Gene

Sources for COA1 Gene

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