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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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