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    COQ5 coenzyme Q5, methyltransferase [ Homo sapiens (human) ]

    Gene ID: 84274, updated on 11-Apr-2024

    Summary

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    Official Symbol
    COQ5provided by HGNC
    Official Full Name
    coenzyme Q5, methyltransferaseprovided by HGNC
    Primary source
    HGNC:HGNC:28722
    See related
    Ensembl:ENSG00000110871 MIM:616359; AllianceGenome:HGNC:28722
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    COQ10D9
    Summary
    Enables 2-octaprenyl-6-methoxy-1,4-benzoquinone methylase activity. Involved in methylation and ubiquinone biosynthetic process. Located in mitochondrial matrix. Part of protein-containing complex. Colocalizes with mitochondrial inner membrane. Implicated in primary coenzyme Q10 deficiency 9. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in kidney (RPKM 15.5), liver (RPKM 13.7) and 25 other tissues See more
    Orthologs
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    Genomic context

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    Location:
    12q24.31
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (120503279..120529158, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (120492451..120518340, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (120941082..120966961, complement)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene glutamyl-tRNA amidotransferase subunit C Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4950 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4951 Neighboring gene serine and arginine rich splicing factor 9 Neighboring gene dynein light chain LC8-type 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4952 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:120933574-120934240 Neighboring gene negative regulator of antiviral response Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:120965951-120966721 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:120966722-120967491 Neighboring gene ribosomal protein L29 pseudogene 24 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:120972057-120972210 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4954 Neighboring gene uncharacterized LOC128071547 Neighboring gene ring finger protein 10 Neighboring gene POP5 homolog, ribonuclease P/MRP subunit

    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
    • 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. A novel inborn error of the coenzyme Q10 biosynthesis pathway: cerebellar ataxia and static encephalomyopathy due to COQ5 C-methyltransferase deficiency. Malicdan MCV, et al. Hum Mutat, 2018 Jan. PMID 29044765, Free PMC Article
    2. Disruption of the human COQ5-containing protein complex is associated with diminished coenzyme Q10 levels under two different conditions of mitochondrial energy deficiency. Yen HC, et al. Biochim Biophys Acta, 2016 Sep. PMID 27155576
    3. Detection of suppressed maturation of the human COQ5 protein in the mitochondria following mitochondrial uncoupling by an antibody recognizing both precursor and mature forms of COQ5. Chen SW, et al. Mitochondrion, 2013 Mar. PMID 23354120
    4. Defining mitochondrial protein functions through deep multiomic profiling. Rensvold JW, et al. Nature, 2022 Jun. PMID 35614220, Free PMC Article
    5. Molecular characterization of the human COQ5 C-methyltransferase in coenzyme Q10 biosynthesis. Nguyen TP, et al. Biochim Biophys Acta, 2014 Nov. PMID 25152161, Free PMC Article

    See all (33) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. This is the first report of primary CoQ10 deficiency caused by loss of function of COQ5, with delineation of the clinical, laboratory, histological, and molecular features, and insights regarding targeted treatment with CoQ10 supplementation.
      Title: A novel inborn error of the coenzyme Q10 biosynthesis pathway: cerebellar ataxia and static encephalomyopathy due to COQ5 C-methyltransferase deficiency.
    2. The expression of COQ5 was increased.
      Title: Disruption of the human COQ5-containing protein complex is associated with diminished coenzyme Q10 levels under two different conditions of mitochondrial energy deficiency.
    3. The results that knockdown of the COQ5 gene reduced CoQ10 levels further indicated the critical role of COQ5 in the biosynthesis of CoQ10.
      Title: Detection of suppressed maturation of the human COQ5 protein in the mitochondria following mitochondrial uncoupling by an antibody recognizing both precursor and mature forms of COQ5.
    4. Observational study of gene-disease association. (HuGE Navigator)
      Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
    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
    Coenzyme q10 deficiency, primary, 9
    MedGen: C5436638 OMIM: 619028 GeneReviews: Primary Coenzyme Q10 Deficiency Overview
    		Compare labs

    EBI GWAS Catalog

    Description
    New susceptibility loci associated with kidney disease in type 1 diabetes.
    EBI GWAS Catalog

    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

    • MGC4767, MGC104303

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables 2-polyprenyl-6-methoxy-1,4-benzoquinone methyltransferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables 2-polyprenyl-6-methoxy-1,4-benzoquinone methyltransferase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in methylation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in ubiquinone biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in ubiquinone biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in ubiquinone biosynthetic process IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    involved_in ubiquinone biosynthetic process NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in extrinsic component of mitochondrial inner membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    colocalizes_with mitochondrial inner membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in mitochondrial inner membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in mitochondrial matrix IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of protein-containing complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of ubiquinone biosynthesis complex IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    2-methoxy-6-polyprenyl-1,4-benzoquinol methylase, mitochondrial
    Names
    coenzyme Q5 homolog, methyltransferase
    ubiquinone biosynthesis methyltransferase COQ5, mitochondrial
    NP_115690.3
    XP_006719702.1
    XP_054229444.1

    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.

    mRNA and Protein(s)

    1. NM_032314.4 → NP_115690.3  2-methoxy-6-polyprenyl-1,4-benzoquinol methylase, mitochondrial precursor

      See identical proteins and their annotated locations for NP_115690.3

      Status: VALIDATED

      Source sequence(s)
      AK222610, BC107874, BP307378
      Consensus CDS
      CCDS31912.1
      UniProtKB/Swiss-Prot
      B2RDU9, B3GK62, B4DEJ4, Q32Q28, Q53HH0, Q5HYK3, Q96LV1, Q9BSP8
      Related
      ENSP00000288532.6, ENST00000288532.11
      Conserved Domains (1) summary
      PRK00216
      Location:56 → 327
      ubiE; ubiquinone/menaquinone biosynthesis methyltransferase; Reviewed

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      120503279..120529158 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006719639.3 → XP_006719702.1  2-methoxy-6-polyprenyl-1,4-benzoquinol methylase, mitochondrial isoform X1

      UniProtKB/TrEMBL
      F8VVX6
      Related
      ENSP00000449863.1, ENST00000552443.5
      Conserved Domains (1) summary
      PRK00216
      Location:1 → 246
      ubiE; bifunctional demethylmenaquinone methyltransferase/2-methoxy-6-polyprenyl-1,4-benzoquinol methylase UbiE

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      120492451..120518340 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054373469.1 → XP_054229444.1  2-methoxy-6-polyprenyl-1,4-benzoquinol methylase, mitochondrial isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q5HYK3.2 GenPept UniProtKB/Swiss-Prot:Q5HYK3

    Gene LinkOut

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

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