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    COA3 cytochrome c oxidase assembly factor 3 [ Homo sapiens (human) ]

    Gene ID: 28958, updated on 3-Nov-2024

    Summary

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    Official Symbol
    COA3provided by HGNC
    Official Full Name
    cytochrome c oxidase assembly factor 3provided by HGNC
    Primary source
    HGNC:HGNC:24990
    See related
    Ensembl:ENSG00000183978 MIM:614775; AllianceGenome:HGNC:24990
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    COX25; hCOA3; CCDC56; HSPC009; MC4DN14; MITRAC12
    Summary
    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]
    Expression
    Ubiquitous expression in kidney (RPKM 59.3), duodenum (RPKM 48.8) and 25 other tissues See more
    Orthologs
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    Genomic context

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    See COA3 in Genome Data Viewer
    Location:
    17q21.2
    Exon count:
    2
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (42797625..42798704, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (43654765..43655844, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (40949643..40950722, complement)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12222 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:40925642-40926189 Neighboring gene Sharpr-MPRA regulatory region 12532 Neighboring gene vacuolar protein sorting 25 homolog Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:40932701-40933658 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:40934948-40936147 Neighboring gene WNK lysine deficient protein kinase 4 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12223 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12224 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12225 Neighboring gene cyclin N-terminal domain containing 1 Neighboring gene beclin 1 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:40969798-40970997 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8548 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:40975527-40976093 Neighboring gene microRNA 6781

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Human COA3 Is an Oligomeric Highly Flexible Protein in Solution. Neira JL, et al. Biochemistry, 2016 Nov 15. PMID 27791355
    2. Mutations in COA3 cause isolated complex IV deficiency associated with neuropathy, exercise intolerance, obesity, and short stature. Ostergaard E, et al. J Med Genet, 2015 Mar. PMID 25604084
    3. COX assembly factor ccdc56 regulates mitochondrial morphology by affecting mitochondrial recruitment of Drp1. Ban-Ishihara R, et al. FEBS Lett, 2015 Oct 7. PMID 26358295
    4. MITRAC7 Acts as a COX1-Specific Chaperone and Reveals a Checkpoint during Cytochrome c Oxidase Assembly. Dennerlein S, et al. Cell Rep, 2015 Sep 8. PMID 26321642
    5. Generation of a transcription map at the HSD17B locus centromeric to BRCA1 at 17q21. Rommens JM, et al. Genomics, 1995 Aug 10. PMID 7490091

    See all (37) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Data suggest that COX assembly factor 3 (hCOA3) is a disordered protein and that the flexibility of hCOA3 is crucial for its interaction with other proteins to favor mitochondrial protein translocation and assembly of proteins involved in the respiratory chain.
      Title: Human COA3 Is an Oligomeric Highly Flexible Protein in Solution.
    2. COX14 was undetectable in COA3 subject fibroblasts, and that COA3 was undetectable in fibroblasts from a COX14 subject, demonstrating the interdependence of these two COX assembly factors
      Title: Mutations in COA3 cause isolated complex IV deficiency associated with neuropathy, exercise intolerance, obesity, and short stature.
    3. Data show that mitochondrial protein ccdc56/MITRAC12/COA3 positively regulates mitochondrial fission by recruiting the fission factor Drp1.
      Title: COX assembly factor ccdc56 regulates mitochondrial morphology by affecting mitochondrial recruitment of Drp1.
    4. hCOA3 stabilizes COX1 co-translationally and promotes its assembly with COX partner subunits.
      Title: hCOA3 stabilizes cytochrome c oxidase 1 (COX1) and promotes cytochrome c oxidase assembly in human mitochondria.
    5. Study comprehensively identified mammalian cytochrome c oxidase assembly factors. These analyses led to the discoveryof MITRAC12, which defines the MITRAC (mitochondrial translation regulation assembly intermediate of cytochrome c oxidase)complexes.
      Title: MITRAC links mitochondrial protein translocation to respiratory-chain assembly and translational regulation.
    6. Human ortholog of fungal COA3 (Cytochrome oxidase assembly)
      Title: 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.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Mitochondrial complex 4 deficiency, nuclear type 14
    MedGen: C5436710 OMIM: 619058 GeneReviews: Not available
    		Compare labs

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ50764

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in mitochondrial cytochrome c oxidase assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in mitochondrial cytochrome c oxidase assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of mitochondrial translation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in mitochondrial inner membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in mitochondrial inner membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in mitochondrial inner membrane TAS
    Traceable Author Statement
    more info
    		  
    located_in mitochondrion HTP PubMed 
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    		  

    General protein information

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    Preferred Names
    cytochrome c oxidase assembly factor 3 homolog, mitochondrial
    Names
    coiled-coil domain-containing protein 56
    cytochrome C oxidase assembly factor 3 homolog, mitochondrial
    cytochrome c oxidase assembly protein 3 homolog, mitochondrial
    mitochondrial translation regulation assembly intermediate of cytochrome c oxidase protein of 12 kDa

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_046771.1 RefSeqGene

      Range
      5022..6101
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001040431.3 → NP_001035521.1  cytochrome c oxidase assembly factor 3 homolog, mitochondrial

      See identical proteins and their annotated locations for NP_001035521.1

      Status: REVIEWED

      Source sequence(s)
      AC016889, AL524532, BC002698
      Consensus CDS
      CCDS32660.1
      UniProtKB/Swiss-Prot
      A8K498, Q9Y2R0
      Related
      ENSP00000354762.5, ENST00000328434.8
      Conserved Domains (1) summary
      pfam09813
      Location:9 → 91
      Coiled-coil_56; Coiled-coil domain-containing protein 56

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      42797625..42798704 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      43654765..43655844 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_014019.1: Suppressed sequence

      Description
      NM_014019.1: This RefSeq record was removed by NCBI staff. Contact info@ncbi.nlm.nih.gov for further information.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9Y2R0.1 GenPept UniProtKB/Swiss-Prot:Q9Y2R0

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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