Aliases for COQ5 Gene

Aliases for COQ5 Gene

  • Coenzyme Q5, Methyltransferase 2 3 5
  • 2-Methoxy-6-Polyprenyl-1,4-Benzoquinol Methylase, Mitochondrial 3 4
  • Ubiquinone Biosynthesis Methyltransferase COQ5, Mitochondrial 3
  • Coenzyme Q5 Homolog, Methyltransferase (S. Cerevisiae) 2
  • 2-Methoxy-6-Polyprenyl-1,4-Benzoquinol Methylase 2
  • Ubiquinone Biosynthesis Methyltransferase COQ5 4
  • Coenzyme Q5 Homolog, Methyltransferase (Yeast) 2
  • Coenzyme Q5 Homolog, Methyltransferase 3
  • EC 2.1.1.201 4
  • EC 2.1.1.52 52
  • EC 2.1.1 52

External Ids for COQ5 Gene

Previous GeneCards Identifiers for COQ5 Gene

  • GC12M119404
  • GC12M120941
  • GC12M117950

Summaries for COQ5 Gene

GeneCards Summary for COQ5 Gene

COQ5 (Coenzyme Q5, Methyltransferase) is a Protein Coding gene. Diseases associated with COQ5 include Coenzyme Q10 Deficiency, Primary, 4 and Coenzyme Q10 Deficiency Disease. Among its related pathways are Metabolism and Ubiquinol biosynthesis. Gene Ontology (GO) annotations related to this gene include methyltransferase activity and S-adenosylmethionine-dependent methyltransferase activity. An important paralog of this gene is METTL7A.

UniProtKB/Swiss-Prot Summary for COQ5 Gene

  • Methyltransferase required for the conversion of 2-polyprenyl-6-methoxy-1,4-benzoquinol (DDMQH2) to 2-polyprenyl-3-methyl-6-methoxy-1,4-benzoquinol (DMQH2).

Additional gene information for COQ5 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for COQ5 Gene

Genomics for COQ5 Gene

GeneHancer (GH) Regulatory Elements for COQ5 Gene

Promoters and enhancers for COQ5 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH12J120528 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE CraniofacialAtlas 565.3 +5.0 5033 2.8 ZBTB40 ZNF217 EP300 ZSCAN5C TCF12 POLR2G SP1 RBAK GTF2E2 PHF8 COQ5 lnc-POP5-2 GCN1 ANAPC5 C12orf43 RPL31P52 GATC RPL29P24 RAB35 PXN
GH12J120467 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas 65 +65.1 65069 3.3 ZNF217 EP300 CTCF SIN3A TCF12 NRF1 MYC POLR2G PHF8 ZFX DYNLL1 SRSF9 COQ5 GATC MSI1 RAB35 lnc-TRIAP1-2
GH12J120494 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 77.4 +37.9 37867 3.5 RXRA SIN3A NRF1 TCF12 POLR2G SP1 GTF2E2 PHF8 FOS ZFX DYNLL1 SRSF9 NRAV NONHSAG012519.2 COQ5 GATC RPL29P24 RPL31P52 GCN1 RNF10
GH12J120533 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas 62.2 -2.9 -2859 7.1 FOXK2 ZNF217 EP300 SIN3A NRF1 USF1 POLR2G GTF2E2 PHF8 JUND RNF10 COQ5 GATC RPL31P52 GCN1 CABP1 POP5 TRIAP1 ENSG00000111780 SPPL3
GH12J120445 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 63.8 +87.9 87933 3 EP300 ZBTB40 ZNF217 ZSCAN5C SIN3A NRF1 MYC TCF12 POLR2G SP1 GATC TRIAP1 lnc-SRSF9-1 COQ5 GCN1 ANAPC5 RPLP0 RPL31P52 PRKAB1 SPPL3
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around COQ5 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for COQ5

Top Transcription factor binding sites by QIAGEN in the COQ5 gene promoter:
  • AP-1
  • c-Fos
  • c-Jun
  • CBF(2)
  • CBF-A
  • CBF-B
  • CP1A
  • NF-Y
  • NF-YA
  • NF-YB

Genomic Locations for COQ5 Gene

Genomic Locations for COQ5 Gene
chr12:120,503,279-120,534,434
(GRCh38/hg38)
Size:
31,156 bases
Orientation:
Minus strand
chr12:120,941,077-120,972,237
(GRCh37/hg19)
Size:
31,161 bases
Orientation:
Minus strand

Genomic View for COQ5 Gene

Genes around COQ5 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
COQ5 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for COQ5 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for COQ5 Gene

Proteins for COQ5 Gene

  • Protein details for COQ5 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q5HYK3-COQ5_HUMAN
    Recommended name:
    2-methoxy-6-polyprenyl-1,4-benzoquinol methylase, mitochondrial
    Protein Accession:
    Q5HYK3
    Secondary Accessions:
    • B2RDU9
    • B3GK62
    • B4DEJ4
    • Q32Q28
    • Q53HH0
    • Q96LV1
    • Q9BSP8

    Protein attributes for COQ5 Gene

    Size:
    327 amino acids
    Molecular mass:
    37140 Da
    Quaternary structure:
    • Component of a multi-subunit COQ enzyme complex, composed of at least COQ3, COQ4, COQ5, COQ6, COQ7 and COQ9.
    SequenceCaution:
    • Sequence=BAG38046.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};

    Alternative splice isoforms for COQ5 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for COQ5 Gene

Selected DME Specific Peptides for COQ5 Gene

Q5HYK3:
  • GIVAIHSG
  • YSFQVIP
  • RFLCLEFS
  • YTIAFGIRNVT
  • YLVESIR
  • FPSQEEFK
  • AGGTGDI
  • LDVAGGT
  • RVLKPGGR
  • MSLGIHR

Post-translational modifications for COQ5 Gene

  • Ubiquitination at Lys95
  • Modification sites at PhosphoSitePlus

Domains & Families for COQ5 Gene

Gene Families for COQ5 Gene

Protein Domains for COQ5 Gene

Blocks:
  • UbiE/COQ5 methyltransferase
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for COQ5 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ55122, highly similar to Ubiquinone biosynthesis methyltransferaseCOQ5, mitochondrial (EC 2.1.1.-) (B4DP72_HUMAN)
  • Ubiquinone biosynthesis methyltransferase COQ5 (COQ5_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q5HYK3

UniProtKB/Swiss-Prot:

COQ5_HUMAN :
  • Belongs to the class I-like SAM-binding methyltransferase superfamily. MenG/UbiE family.
Family:
  • Belongs to the class I-like SAM-binding methyltransferase superfamily. MenG/UbiE family.
genes like me logo Genes that share domains with COQ5: view

Function for COQ5 Gene

Molecular function for COQ5 Gene

UniProtKB/Swiss-Prot Function:
Methyltransferase required for the conversion of 2-polyprenyl-6-methoxy-1,4-benzoquinol (DDMQH2) to 2-polyprenyl-3-methyl-6-methoxy-1,4-benzoquinol (DMQH2).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=a 2-methoxy-6-all-trans-polyprenyl-1,4-benzoquinol + S-adenosyl-L-methionine = a 6-methoxy-3-methyl-2-all-trans-polyprenyl-1,4-benzoquinol + H(+) + S-adenosyl-L-homocysteine; Xref=Rhea:RHEA:28286, Rhea:RHEA-COMP:10858, Rhea:RHEA-COMP:10859, ChEBI:CHEBI:15378, ChEBI:CHEBI:57856, ChEBI:CHEBI:59789, ChEBI:CHEBI:84166, ChEBI:CHEBI:84167; EC=2.1.1.201; Evidence=. ;.

Enzyme Numbers (IUBMB) for COQ5 Gene

Phenotypes From GWAS Catalog for COQ5 Gene

Gene Ontology (GO) - Molecular Function for COQ5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25152161
GO:0008168 methyltransferase activity IEA --
GO:0016740 transferase activity IEA --
GO:0043333 2-octaprenyl-6-methoxy-1,4-benzoquinone methylase activity IEA,IDA 25152161
GO:0043430 2-decaprenyl-6-methoxy-1,4-benzoquinone methyltransferase activity IEA --
genes like me logo Genes that share ontologies with COQ5: view
genes like me logo Genes that share phenotypes with COQ5: view

Animal Model Products

  • Taconic Biosciences Mouse Models for COQ5

CRISPR Products

Clone Products

No data available for Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for COQ5 Gene

Localization for COQ5 Gene

Subcellular locations from UniProtKB/Swiss-Prot for COQ5 Gene

Mitochondrion inner membrane; Peripheral membrane protein; Matrix side.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for COQ5 gene
Compartment Confidence
mitochondrion 5
nucleus 2
plasma membrane 1
peroxisome 1
endoplasmic reticulum 1
cytosol 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Mitochondria (3)
  • Nucleoli (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for COQ5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA,IBA 21873635
GO:0005743 colocalizes_with mitochondrial inner membrane IEA,IDA 25152161
GO:0005759 mitochondrial matrix IDA 25152161
GO:0016020 membrane IEA --
GO:0031314 extrinsic component of mitochondrial inner membrane IEA --
genes like me logo Genes that share ontologies with COQ5: view

Pathways & Interactions for COQ5 Gene

genes like me logo Genes that share pathways with COQ5: view

Pathways by source for COQ5 Gene

UniProtKB/Swiss-Prot Q5HYK3-COQ5_HUMAN

  • Pathway: Cofactor biosynthesis; ubiquinone biosynthesis.

Gene Ontology (GO) - Biological Process for COQ5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006744 ubiquinone biosynthetic process IGI,IEA 25152161
GO:0032259 methylation IDA,IEA 25152161
genes like me logo Genes that share ontologies with COQ5: view

No data available for SIGNOR curated interactions for COQ5 Gene

Drugs & Compounds for COQ5 Gene

(1) Drugs for COQ5 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
s-adenosylhomocysteine Experimental Pharma 0

(6) Additional Compounds for COQ5 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
2-Hexaprenyl-3-methyl-6-methoxy-1,4 benzoquinone
  • 2-Hexaprenyl-3-methyl-6-methoxy-1,4-benzoquinone
2-Hexaprenyl-6-methoxy-1,4-benzoquinone
  • 2-Polyprenyl-6-methoxy-1,4-benzoquinol
  • DDMQH2
2-Polyprenyl-3-methyl-6-methoxy-1,4-benzoquinone
2-Polyprenyl-6-methoxy-1,4-benzoquinone
Difucosyllactohexaose
  • DFH
  • O-6-Deoxy-alpha-L-galactopyranosyl-(1->3)-O-[beta-D-galactopyranosyl-(1->4)]-O-2-(acetylamino)-2-deoxy-beta-D-glucopyranosyl-(1->3)-O-[O-6-deoxy-alpha-L-galactopyranosyl-(1->3)-O-[beta-D-galactopyranosyl-(1->4)]-2-(acetylamino)-2-deoxy-beta-D-glucopyranosyl-(1->6)]-O-beta-D-galactopyranosyl-(1->4)- D-glucose
  • O-6-Deoxy-alpha-L-galactopyranosyl-(1->3)-O-[beta-delta-galactopyranosyl-(1->4)]-O-2-(acetylamino)-2-deoxy-beta-delta-glucopyranosyl-(1->3)-O-[O-6-deoxy-alpha-L-galactopyranosyl-(1->3)-O-[beta-delta-galactopyranosyl-(1->4)]-2-(acetylamino)-2-deoxy-beta-delta-glucopyranosyl-(1->6)]-O-beta-delta-galactopyranosyl-(1->4)- D-glucose
115236-57-2
genes like me logo Genes that share compounds with COQ5: view

Transcripts for COQ5 Gene

mRNA/cDNA for COQ5 Gene

1 REFSEQ mRNAs :
11 NCBI additional mRNA sequence :
8 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for COQ5 Gene

ExUns: 1a · 1b ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9a · 9b ^ 10
SP1: - - -
SP2: - -
SP3: - - -
SP4: - - - -
SP5: -
SP6: -

Relevant External Links for COQ5 Gene

GeneLoc Exon Structure for
COQ5

Expression for COQ5 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for COQ5 Gene

Protein differential expression in normal tissues from HIPED for COQ5 Gene

This gene is overexpressed in Bone (23.3) and Tonsil (7.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for COQ5 Gene



Protein tissue co-expression partners for COQ5 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for COQ5

SOURCE GeneReport for Unigene cluster for COQ5 Gene:

Hs.17250

mRNA Expression by UniProt/SwissProt for COQ5 Gene:

Q5HYK3-COQ5_HUMAN
Tissue specificity: Widely expressed, with highest levels in liver, lung, placenta and skeletal muscle.

Evidence on tissue expression from TISSUES for COQ5 Gene

  • Nervous system(4.5)
  • Liver(4.3)
  • Lung(4.2)
  • Skin(4.2)
genes like me logo Genes that share expression patterns with COQ5: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for COQ5 Gene

Orthologs for COQ5 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for COQ5 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia COQ5 31 30
  • 99.49 (n)
OneToOne
cow
(Bos Taurus)
Mammalia COQ5 31 30
  • 90.42 (n)
OneToOne
dog
(Canis familiaris)
Mammalia COQ5 31 30
  • 89.09 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Coq5 30
  • 84.51 (n)
mouse
(Mus musculus)
Mammalia Coq5 17 31 30
  • 83.69 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia COQ5 31
  • 76 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia COQ5 31
  • 75 (a)
OneToOne
chicken
(Gallus gallus)
Aves COQ5 31 30
  • 71.33 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia COQ5 31
  • 75 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia coq5 30
  • 67.86 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.25997 30
zebrafish
(Danio rerio)
Actinopterygii COQ5 31
  • 64 (a)
OneToOne
zgc:92445 30
  • 63.98 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG2453 31 30
  • 61.33 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010488 30
  • 58.66 (n)
worm
(Caenorhabditis elegans)
Secernentea coq-5 31 30
  • 56.78 (n)
OneToOne
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0D01771g 30
  • 57.12 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes COQ5 33 31 30
  • 55.35 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ABL132W 30
  • 53.33 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT5G57300 30
  • 60.29 (n)
soybean
(Glycine max)
eudicotyledons Gma.12739 30
rice
(Oryza sativa)
Liliopsida Os01g0976600 30
  • 59.79 (n)
barley
(Hordeum vulgare)
Liliopsida Hv.10592 30
wheat
(Triticum aestivum)
Liliopsida Ta.3669 30
bread mold
(Neurospora crassa)
Ascomycetes NCU09862 30
  • 55.73 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes coq5 30
  • 55.65 (n)
Species where no ortholog for COQ5 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)

Evolution for COQ5 Gene

ENSEMBL:
Gene Tree for COQ5 (if available)
TreeFam:
Gene Tree for COQ5 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for COQ5: view image

Paralogs for COQ5 Gene

Paralogs for COQ5 Gene

genes like me logo Genes that share paralogs with COQ5: view

Variants for COQ5 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for COQ5 Gene

SNP ID Clinical significance and condition Chr 12 pos Variation AA Info Type
727118 Likely Benign: not provided 120,529,126(-) T/C MISSENSE_VARIANT
742153 Likely Benign: not provided 120,504,087(-) C/T INTRON_VARIANT
756765 Benign: not provided 120,503,982(-) C/T SYNONYMOUS_VARIANT
768593 Benign: not provided 120,510,130(-) G/C INTRON_VARIANT
790131 Likely Benign: not provided 120,516,746(-) T/C MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for COQ5 Gene

Structural Variations from Database of Genomic Variants (DGV) for COQ5 Gene

Variant ID Type Subtype PubMed ID
nsv983371 CNV duplication 23825009

Variation tolerance for COQ5 Gene

Residual Variation Intolerance Score: 81.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.18; 80.87% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for COQ5 Gene

Human Gene Mutation Database (HGMD)
COQ5
SNPedia medical, phenotypic, and genealogical associations of SNPs for
COQ5

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for COQ5 Gene

Disorders for COQ5 Gene

MalaCards: The human disease database

(3) MalaCards diseases for COQ5 Gene - From: DISEASES

Disorder Aliases PubMed IDs
coenzyme q10 deficiency, primary, 4
  • coq10d4
coenzyme q10 deficiency disease
  • coenzyme q10 deficiency, primary
mitochondrial metabolism disease
  • mitochondrial diseases
- elite association - COSMIC cancer census association via MalaCards
Search COQ5 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for COQ5

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with COQ5: view

No data available for UniProtKB/Swiss-Prot and Genatlas for COQ5 Gene

Publications for COQ5 Gene

  1. Molecular characterization of the human COQ5 C-methyltransferase in coenzyme Q10 biosynthesis. (PMID: 25152161) Nguyen TP … Salviati L (Biochimica et biophysica acta 2014) 2 3 4 54
  2. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 41 54
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 54
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 54
  5. An AP-MS- and BioID-compatible MAC-tag enables comprehensive mapping of protein interactions and subcellular localizations. (PMID: 29568061) Liu X … Varjosalo M (Nature communications 2018) 3 54

Products for COQ5 Gene

Sources for COQ5 Gene