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    COQ9 coenzyme Q9 [ Homo sapiens (human) ]

    Gene ID: 57017, updated on 12-Oct-2019

    Summary

    Official Symbol
    COQ9provided by HGNC
    Official Full Name
    coenzyme Q9provided by HGNC
    Primary source
    HGNC:HGNC:25302
    See related
    Ensembl:ENSG00000088682 MIM:612837
    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
    COQ10D5; C16orf49
    Summary
    This locus represents a mitochondrial ubiquinone biosynthesis gene. The encoded protein is likely necessary for biosynthesis of coenzyme Q10, as mutations at this locus have been associated with autosomal-recessive neonatal-onset primary coenzyme Q10 deficiency.[provided by RefSeq, Sep 2010]
    Expression
    Ubiquitous expression in heart (RPKM 47.9), kidney (RPKM 39.3) and 25 other tissues See more
    Orthologs

    Genomic context

    See COQ9 in Genome Data Viewer
    Location:
    16q21
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    109.20190905 current GRCh38.p13 (GCF_000001405.39) 16 NC_000016.10 (57447479..57461270)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (57481337..57495187)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene C-X3-C motif chemokine ligand 1 Neighboring gene C-C motif chemokine ligand 17 Neighboring gene cytokine induced apoptosis inhibitor 1 Neighboring gene Sharpr-MPRA regulatory region 5957 Neighboring gene Sharpr-MPRA regulatory region 83 Neighboring gene RNA polymerase II subunit C Neighboring gene docking protein 4

    Genomic regions, transcripts, and products

    Expression

    • Project title: 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from BioSystems

    • Metabolism, organism-specific biosystem (from REACTOME)
      Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
    • Metabolism of lipids and lipoproteins, organism-specific biosystem (from REACTOME)
      Metabolism of lipids and lipoproteins, organism-specific biosystemLipids are hydrophobic but otherwise chemically diverse molecules that play a wide variety of roles in human biology. They include ketone bodies, fatty acids, triacylglycerols, phospholipids and sphi...
    • Ubiquinol biosynthesis, organism-specific biosystem (from REACTOME)
      Ubiquinol biosynthesis, organism-specific biosystemThe length of the polyisoprenoid chain of ubiquinone aka coenzyme Q (Q), varies depending on the species involved: it is 6 in budding yeast, Saccharomyces cerevisiae, (Q6) and 10 in humans (Q10). Mo...

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • DKFZp434K046

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    lipid binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    lipid binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein homodimerization activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    mitochondrial electron transport, NADH to ubiquinone IEA
    Inferred from Electronic Annotation
    more info
     
    ubiquinone biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    ubiquinone biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
     
    ubiquinone biosynthetic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Component Evidence Code Pubs
    mitochondrial inner membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    mitochondrion HDA PubMed 

    General protein information

    Preferred Names
    ubiquinone biosynthesis protein COQ9, mitochondrial
    Names
    coenzyme Q9 homolog

    NCBI Reference Sequences (RefSeq)

    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_027696.1 RefSeqGene

      Range
      5055..18846
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_020312.4NP_064708.1  ubiquinone biosynthesis protein COQ9, mitochondrial precursor

      See identical proteins and their annotated locations for NP_064708.1

      Status: REVIEWED

      Source sequence(s)
      AK075438, BC064946, BM680448, DB513313
      Consensus CDS
      CCDS32459.1
      UniProtKB/Swiss-Prot
      O75208
      UniProtKB/TrEMBL
      A0A024R6U3
      Related
      ENSP00000262507.5, ENST00000262507.11
      Conserved Domains (1) summary
      cl21709
      Location:102281
      COQ9; COQ9

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109.20190905

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000016.10 Reference GRCh38.p13 Primary Assembly

      Range
      57447479..57461270
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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