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    COQ3 coenzyme Q3, methyltransferase [ Homo sapiens (human) ]

    Gene ID: 51805, updated on 10-Dec-2024

    Summary

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    Official Symbol
    COQ3provided by HGNC
    Official Full Name
    coenzyme Q3, methyltransferaseprovided by HGNC
    Primary source
    HGNC:HGNC:18175
    See related
    Ensembl:ENSG00000132423 MIM:605196; AllianceGenome:HGNC:18175
    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
    DHHBMT; bA9819.1; DHHBMTASE; UG0215E05
    Summary
    Ubiquinone, also known as coenzyme Q, or Q, is a critical component of the electron transport pathways of both eukaryotes and prokaryotes (Jonassen and Clarke, 2000 [PubMed 10777520]). This lipid consists of a hydrophobic isoprenoid tail and a quinone head group. The tail varies in length depending on the organism, but its purpose is to anchor coenzyme Q to the membrane. The quinone head group is responsible for the activity of coenzyme Q in the respiratory chain. The S. cerevisiae COQ3 gene encodes an O-methyltransferase required for 2 steps in the biosynthetic pathway of coenzyme Q. This enzyme methylates an early coenzyme Q intermediate, 3,4-dihydroxy-5-polyprenylbenzoic acid, as well as the final intermediate in the pathway, converting demethyl-ubiquinone to coenzyme Q. The COQ3 gene product is also capable of methylating the distinct prokaryotic early intermediate 2-hydroxy-6-polyprenyl phenol.[supplied by OMIM, Mar 2008]
    Expression
    Ubiquitous expression in heart (RPKM 8.1), brain (RPKM 3.9) and 25 other tissues See more
    Orthologs
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    Genomic context

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    See COQ3 in Genome Data Viewer
    Location:
    6q16.2
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (99369401..99394195, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (100543769..100568541, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (99817277..99842071, complement)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene NANOG hESC enhancer GRCh37_chr6:99632134-99632702 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24853 Neighboring gene 3-hydroxybutyrate dehydrogenase 2, pseudogene 1 Neighboring gene MPRA-validated peak5979 silencer Neighboring gene failed axon connections homolog, metaxin like GST domain containing Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:99793932-99794432 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:99794433-99794933 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:99795824-99796388 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17414 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17415 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17416 Neighboring gene MPRA-validated peak5980 silencer Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:99841327-99841966 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr6:99849871-99851070 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr6:99872987-99874186 Neighboring gene PNN interacting serine and arginine rich protein Neighboring gene PNISR antisense RNA 1 Neighboring gene NANOG hESC enhancer GRCh37_chr6:99904596-99905315 Neighboring gene ubiquitin specific peptidase 45 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17417 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:99962307-99963214 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:99963215-99964120

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. Isolation and functional expression of human COQ3, a gene encoding a methyltransferase required for ubiquinone biosynthesis. Jonassen T, et al. J Biol Chem, 2000 Apr 28. PMID 10777520
    2. An association study of 45 folate-related genes in spina bifida: Involvement of cubilin (CUBN) and tRNA aspartic acid methyltransferase 1 (TRDMT1). Franke B, et al. Birth Defects Res A Clin Mol Teratol, 2009 Mar. PMID 19161160
    3. Inhibition of the Mitochondrial Protease ClpP as a Therapeutic Strategy for Human Acute Myeloid Leukemia. Cole A, et al. Cancer Cell, 2015 Jun 8. PMID 26058080, Free PMC Article
    4. Biochemistry of Mitochondrial Coenzyme Q Biosynthesis. Stefely JA, et al. Trends Biochem Sci, 2017 Oct. PMID 28927698, Free PMC Article
    5. Mitochondrial Protein Interaction Mapping Identifies Regulators of Respiratory Chain Function. Floyd BJ, et al. Mol Cell, 2016 Aug 18. PMID 27499296, Free PMC Article

    See all (29) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. 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

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    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

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables 3,4-dihydroxy-5-polyprenylbenzoic acid O-methyltransferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables 3,4-dihydroxy-5-polyprenylbenzoic acid O-methyltransferase activity TAS
    Traceable Author Statement
    more info
    		  
    enables 3-demethylubiquinol-n 3-O-methyltransferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables 3-demethylubiquinol-n 3-O-methyltransferase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables 3-demethylubiquinol-n 3-O-methyltransferase activity TAS
    Traceable Author Statement
    more info
    		  
    enables O-methyltransferase activity IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in glycerol metabolic process IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    involved_in methylation 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 
    involved_in ubiquinone biosynthetic process TAS
    Traceable Author Statement
    more info
    		  
    involved_in ubiquinone biosynthetic process via 3,4-dihydroxy-5-polyprenylbenzoate IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in extrinsic component of mitochondrial inner membrane IEA
    Inferred from Electronic Annotation
    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 
    is_active_in mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in mitochondrion 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
    ubiquinone biosynthesis O-methyltransferase, mitochondrial
    Names
    2-polyprenyl-6-hydroxyphenol methylase
    2-polyprenyl-6-hydroxyphenyl methylase
    3,4-dihydroxy-5-hexaprenylbenzoate methyltransferase
    3-demethylubiquinol 3-O-methyltransferase
    3-demethylubiquinone-10 3-methyltransferase
    DHHB methyltransferase
    DHHB-MTase
    coenzyme Q3 homolog, methyltransferase
    dihydroxyhexaprenylbenzoate methyltransferase
    hexaprenyldihydroxybenzoate methyltransferase, mitochondrial
    methyltransferase COQ3
    polyprenyldihydroxybenzoate methyltransferase
    NP_059117.3
    XP_005267075.1
    XP_006715563.1
    XP_011534200.1
    XP_011534201.1
    XP_047274827.1
    XP_054211573.1
    XP_054211574.1
    XP_054211575.1
    XP_054211576.1
    XP_054211577.1

    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_017421.4 → NP_059117.3  ubiquinone biosynthesis O-methyltransferase, mitochondrial

      See identical proteins and their annotated locations for NP_059117.3

      Status: VALIDATED

      Source sequence(s)
      AL136726, AL513550, BC001534
      Consensus CDS
      CCDS5042.1
      UniProtKB/Swiss-Prot
      B3KPX0, Q5T061, Q6P4F0, Q8IXG6, Q96BG1, Q9H0N1, Q9NZJ6
      Related
      ENSP00000254759.3, ENST00000254759.8
      Conserved Domains (2) summary
      TIGR01983
      Location:96 → 326
      UbiG; ubiquinone biosynthesis O-methyltransferase
      pfam08241
      Location:151 → 250
      Methyltransf_11; Methyltransferase domain

    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_000006.12 Reference GRCh38.p14 Primary Assembly

      Range
      99369401..99394195 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011535899.2 → XP_011534201.1  ubiquinone biosynthesis O-methyltransferase, mitochondrial isoform X4

      Conserved Domains (1) summary
      cl28104
      Location:1 → 207
      UbiG; 2-polyprenyl-3-methyl-5-hydroxy-6-metoxy-1,4-benzoquinol methylase [Coenzyme transport and metabolism]

    2. XM_005267018.5 → XP_005267075.1  ubiquinone biosynthesis O-methyltransferase, mitochondrial isoform X3

      Conserved Domains (1) summary
      TIGR01983
      Location:96 → 245
      UbiG; ubiquinone biosynthesis O-methyltransferase

    3. XM_011535898.3 → XP_011534200.1  ubiquinone biosynthesis O-methyltransferase, mitochondrial isoform X2

      Conserved Domains (2) summary
      TIGR01983
      Location:137 → 286
      UbiG; ubiquinone biosynthesis O-methyltransferase
      pfam13900
      Location:84 → 121
      GVQW; Putative domain of unknown function

    4. XM_006715500.4 → XP_006715563.1  ubiquinone biosynthesis O-methyltransferase, mitochondrial isoform X1

      Conserved Domains (3) summary
      TIGR01983
      Location:137 → 367
      UbiG; ubiquinone biosynthesis O-methyltransferase
      pfam08241
      Location:192 → 291
      Methyltransf_11; Methyltransferase domain
      pfam13900
      Location:84 → 121
      GVQW; Putative domain of unknown function

    5. XM_047418871.1 → XP_047274827.1  ubiquinone biosynthesis O-methyltransferase, mitochondrial isoform X4

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      100543769..100568541 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054355602.1 → XP_054211577.1  ubiquinone biosynthesis O-methyltransferase, mitochondrial isoform X4

    2. XM_054355600.1 → XP_054211575.1  ubiquinone biosynthesis O-methyltransferase, mitochondrial isoform X3

    3. XM_054355599.1 → XP_054211574.1  ubiquinone biosynthesis O-methyltransferase, mitochondrial isoform X2

    4. XM_054355598.1 → XP_054211573.1  ubiquinone biosynthesis O-methyltransferase, mitochondrial isoform X1

    5. XM_054355601.1 → XP_054211576.1  ubiquinone biosynthesis O-methyltransferase, mitochondrial isoform X4

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9NZJ6.3 GenPept UniProtKB/Swiss-Prot:Q9NZJ6

    Gene LinkOut

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

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