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

Gene ID: 84274, updated on 25-Jan-2024

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; 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

See COQ5 in Genome Data Viewer
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

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Clone Names

  • MGC4767, MGC104303

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables 2-polyprenyl-6-methoxy-1,4-benzoquinone methyltransferase activity IDA
Inferred from Direct Assay
more info
PubMed 
enables 2-polyprenyl-6-methoxy-1,4-benzoquinone methyltransferase activity IEA
Inferred from Electronic Annotation
more info
 
enables methyltransferase activity IBA
Inferred from Biological aspect of Ancestor
more info
 
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 

General protein information

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_032314.4NP_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:56327
    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_006719639.3XP_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:1246
    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_054373469.1XP_054229444.1  2-methoxy-6-polyprenyl-1,4-benzoquinol methylase, mitochondrial isoform X1

    UniProtKB/TrEMBL
    F8VVX6