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

Summary

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: mouse all
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Genomic context

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_000006.12 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?

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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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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 more info	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

EC 2.1.1.114

EC 2.1.1.64

XP_005267075.1

EC 2.1.1.114

EC 2.1.1.64

XP_006715563.1

EC 2.1.1.114

EC 2.1.1.64

XP_011534200.1

EC 2.1.1.114

EC 2.1.1.64

XP_011534201.1

EC 2.1.1.114

EC 2.1.1.64

XP_047274827.1

EC 2.1.1.114

EC 2.1.1.64

XP_054211573.1

EC 2.1.1.114

EC 2.1.1.64

XP_054211574.1

EC 2.1.1.114

EC 2.1.1.64

XP_054211575.1

EC 2.1.1.114

EC 2.1.1.64

XP_054211576.1

EC 2.1.1.114

EC 2.1.1.64

XP_054211577.1

EC 2.1.1.114

EC 2.1.1.64

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_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

NC_000006.12 Reference GRCh38.p14 Primary Assembly

Range

99369401..99394195 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

Alternate T2T-CHM13v2.0

Genomic

NC_060930.1 Alternate T2T-CHM13v2.0

Range

100543769..100568541 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054355602.1 → XP_054211577.1 ubiquinone biosynthesis O-methyltransferase, mitochondrial isoform X4
XM_054355600.1 → XP_054211575.1 ubiquinone biosynthesis O-methyltransferase, mitochondrial isoform X3
XM_054355599.1 → XP_054211574.1 ubiquinone biosynthesis O-methyltransferase, mitochondrial isoform X2
XM_054355598.1 → XP_054211573.1 ubiquinone biosynthesis O-methyltransferase, mitochondrial isoform X1
XM_054355601.1 → XP_054211576.1 ubiquinone biosynthesis O-methyltransferase, mitochondrial isoform X4