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

Summary

Official Symbol: COQ5provided by HGNC
Official Full Name: coenzyme Q5, methyltransferaseprovided by HGNC
Primary source: HGNC:HGNC:28722
See related: Ensembl:ENSG00000110871 MIM:616359
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
Expression: Ubiquitous expression in kidney (RPKM 15.5), liver (RPKM 13.7) and 25 other tissues See more
Orthologs: mouse all

Genomic context

Location:: 12q24.31

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
109.20191205	current	GRCh38.p13 (GCF_000001405.39)	12	NC_000012.12 (120503279..120534613, complement)
105	previous assembly	GRCh37.p13 (GCF_000001405.25)	12	NC_000012.11 (120941082..120966964, complement)

Chromosome 12 - NC_000012.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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

NHGRI GWAS Catalog

Description
New susceptibility loci associated with kidney disease in type 1 diabetes. NHGRI GWA Catalog NHGRI GWA CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH44487 (e-PCR)
- UniSTS:35353

SHGC-64326 (e-PCR)
- UniSTS:66643

G62046 (e-PCR)
- UniSTS:139147

D12S1527 (e-PCR)
- UniSTS:154062

Homology

Homologs of the COQ5 gene: The COQ5 gene is conserved in chimpanzee, dog, cow, mouse, rat, chicken, zebrafish, fruit fly, mosquito, C.elegans, S.cerevisiae, K.lactis, E.gossypii, S.pombe, M.oryzae, N.crassa, A.thaliana, rice, and frog.
Orthologs from Annotation Pipeline: 297 organisms have orthologs with human gene COQ5
Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
2-decaprenyl-6-methoxy-1,4-benzoquinone methyltransferase activity	IEA Inferred from Electronic Annotation more info
2-octaprenyl-6-methoxy-1,4-benzoquinone methylase activity	IDA Inferred from Direct Assay more info	PubMed
protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
methylation	IDA Inferred from Direct Assay more info	PubMed
ubiquinone biosynthetic process	IEA Inferred from Electronic Annotation more info
ubiquinone biosynthetic process	IGI Inferred from Genetic Interaction more info	PubMed

Component	Evidence Code	Pubs
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
mitochondrial matrix	IDA Inferred from Direct Assay more info	PubMed
mitochondrion	IBA Inferred from Biological aspect of Ancestor more info	PubMed
protein-containing complex	IDA Inferred from Direct Assay 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

EC 2.1.1.201

XP_006719702.1

EC 2.1.1.201

XP_024304992.1

EC 2.1.1.201

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)

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

Q5HYK3

Related

ENSP00000288532.6, ENST00000288532.11

Conserved Domains (1) summary

PRK00216
Location:56 → 327

ubiE; ubiquinone/menaquinone biosynthesis methyltransferase; Reviewed

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20191205

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

Reference GRCh38.p13 Primary Assembly

Genomic

NC_000012.12 Reference GRCh38.p13 Primary Assembly

Range

120503279..120534613 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_024449224.1 → XP_024304992.1 2-methoxy-6-polyprenyl-1,4-benzoquinol methylase, mitochondrial isoform X1

Conserved Domains (1) summary

PRK00216
Location:1 → 246

ubiE; ubiquinone/menaquinone biosynthesis methyltransferase; Reviewed
XM_006719639.2 → XP_006719702.1 2-methoxy-6-polyprenyl-1,4-benzoquinol methylase, mitochondrial isoform X1

Related

ENSP00000449863.1, ENST00000552443.5

Conserved Domains (1) summary

PRK00216
Location:1 → 246

ubiE; ubiquinone/menaquinone biosynthesis methyltransferase; Reviewed