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Aliases for COQ5 Gene

Aliases for COQ5 Gene

  • Coenzyme Q5, Methyltransferase 2 3 5
  • Coenzyme Q5 Homolog, Methyltransferase (S. Cerevisiae) 2
  • 2-Methoxy-6-Polyprenyl-1,4-Benzoquinol Methylase 2
  • Coenzyme Q5 Homolog, Methyltransferase (Yeast) 2
  • Ubiquinone Biosynthesis Methyltransferase COQ5 4
  • EC 2.1.1.201 4
  • EC 2.1.1.52 61
  • EC 2.1.1 61

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. Among its related pathways are Metabolism and Ubiquinol biosynthesis. GO annotations related to this gene include methyltransferase activity and S-adenosylmethionine-dependent methyltransferase activity.

UniProtKB/Swiss-Prot 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).

No data available for Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for COQ5 Gene

Genomics for COQ5 Gene

Regulatory Elements for COQ5 Gene

Enhancers for COQ5 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH12F120494 0.2 ENCODE 77.3 +37.8 37834 3.5 ARID4B SIN3A DMAP1 ZNF143 FOS SP3 NFYC MXD4 REST KAT8 COQ5 GATC DYNLL1 GCN1 RPL29P24 RNF10 C12orf43 NME2P1 SRSF9 RPL31P52
GH12F120554 0.2 ENCODE 74.5 -20.4 -20384 1.1 BCOR HDAC2 ADNP ZBTB17 COQ5 GATC RNF10 RPL29P24 RPL31P52 TRIAP1 ENSG00000111780 GC12P120535 POP5
GH12F120528 1 ENCODE 65.6 +5.0 4990 2.4 HDGF PKNOX1 ARNT CREB3L1 ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF2 GCN1 COQ5 ANAPC5 RPL31P52 C12orf43 NME2P1 MIR4700 GATC ENSG00000256695 RPL12P33
GH12F120525 0.6 ENCODE 65.2 +8.4 8409 1.3 HDAC1 ZNF121 ZNF316 POLR2A FOS MAFK PAF1 CEBPB MAFG MNT COQ5 GATC RPL29P24 RNF10
GH12F120467 0.9 FANTOM5 ENCODE 64.9 +65.1 65106 3.2 PKNOX1 CREB3L1 MLX WRNIP1 ARID4B SIN3A DMAP1 YY1 ZNF207 ZNF143 COQ5 GATC GCN1 MSI1 RAB35 SRSF9 GC12M120462
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around COQ5 on UCSC Golden Path with GeneCards custom track

Promoters for COQ5 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001026674 -967 3200 PKNOX1 ARID4B SIN3A ZNF2 YY1 ZNF143 FOS SP3 ZHX2 REST

Genomic Location for COQ5 Gene

Chromosome:
12
Start:
120,503,274 bp from pter
End:
120,534,434 bp from pter
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=Translation N-terminally extended.; 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 Lys 95
  • Modification sites at PhosphoSitePlus

Other Protein References for COQ5 Gene

Domains & Families for COQ5 Gene

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

No data available for Gene Families for COQ5 Gene

Function for COQ5 Gene

Molecular function for COQ5 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
S-adenosyl-L-methionine + 2-methoxy-6-all-trans-polyprenyl-1,4-benzoquinol = S-adenosyl-L-homocysteine + 6-methoxy-3-methyl-2-all-trans-polyprenyl-1,4-benzoquinol.
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).

Enzyme Numbers (IUBMB) for COQ5 Gene

Gene Ontology (GO) - Molecular Function for COQ5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008168 methyltransferase activity IEA --
GO:0008757 S-adenosylmethionine-dependent methyltransferase activity IBA --
GO:0016740 transferase activity IEA --
GO:0043430 2-decaprenyl-6-methoxy-1,4-benzoquinone methyltransferase activity IEA --
GO:0102005 2-octaprenyl-6-methoxy-1,4-benzoquinone methylase 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

Inhibitory RNA Products

Flow Cytometry 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
Jensen Localization Image for COQ5 Gene COMPARTMENTS Subcellular localization image for COQ5 gene
Compartment Confidence
mitochondrion 5
nucleus 2
cytosol 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for COQ5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IBA --
GO:0005743 mitochondrial inner membrane IEA --
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 IEA --
GO:0032259 methylation IEA,IBA --
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

(2) Drugs for COQ5 Gene - From: HMDB

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

(5) 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-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

Unigene Clusters for COQ5 Gene

Coenzyme Q5 homolog, methyltransferase (S. cerevisiae):
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry 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
ECgene alternative splicing isoforms 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, PaxDb, MaxQB, and MOPED for COQ5 Gene



Protein tissue co-expression partners for COQ5 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of COQ5 Gene:

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.
genes like me logo Genes that share expression patterns with COQ5: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues 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 34 35
  • 99.49 (n)
cow
(Bos Taurus)
Mammalia COQ5 34 35
  • 90.42 (n)
dog
(Canis familiaris)
Mammalia COQ5 34 35
  • 89.09 (n)
rat
(Rattus norvegicus)
Mammalia Coq5 34
  • 84.51 (n)
mouse
(Mus musculus)
Mammalia Coq5 34 16 35
  • 83.69 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia COQ5 35
  • 76 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia COQ5 35
  • 75 (a)
OneToOne
chicken
(Gallus gallus)
Aves COQ5 34 35
  • 71.33 (n)
lizard
(Anolis carolinensis)
Reptilia COQ5 35
  • 75 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia coq5 34
  • 67.86 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.25997 34
zebrafish
(Danio rerio)
Actinopterygii COQ5 35
  • 64 (a)
OneToOne
zgc:92445 34
  • 63.98 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG2453 34 35
  • 61.33 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010488 34
  • 58.66 (n)
worm
(Caenorhabditis elegans)
Secernentea coq-5 34 35
  • 56.78 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0D01771g 34
  • 57.12 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes COQ5 34 35 37
  • 55.35 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ABL132W 34
  • 53.33 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT5G57300 34
  • 60.29 (n)
soybean
(Glycine max)
eudicotyledons Gma.12739 34
rice
(Oryza sativa)
Liliopsida Os01g0976600 34
  • 59.79 (n)
barley
(Hordeum vulgare)
Liliopsida Hv.10592 34
wheat
(Triticum aestivum)
Liliopsida Ta.3669 34
bread mold
(Neurospora crassa)
Ascomycetes NCU09862 34
  • 55.73 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes coq5 34
  • 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)

Paralogs for COQ5 Gene

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

No data available for Paralogs for COQ5 Gene

Variants for COQ5 Gene

Sequence variations from dbSNP and Humsavar for COQ5 Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type
rs10431379 -- 120,508,215(+) ggtct(C/T)gatct intron-variant
rs10431380 -- 120,508,218(+) cttga(A/T)ctcct intron-variant
rs10431381 -- 120,508,230(+) acctc(A/G)tgatc intron-variant
rs1045273 -- 120,503,349(-) GAAGT(C/G/T)TAGGC utr-variant-3-prime
rs10638915 -- 120,530,583(+) CTCAA(-/AAAT)AAATA upstream-variant-2KB

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)

Relevant External Links for COQ5 Gene

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

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

Disorders for COQ5 Gene

Relevant External Links for COQ5

Genetic Association Database (GAD)
COQ5
Human Genome Epidemiology (HuGE) Navigator
COQ5
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
COQ5

No disorders were found for COQ5 Gene.

No data available for MalaCards , 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 T.P. … Salviati L. (Biochim. Biophys. Acta 2014) 2 3 4 64
  2. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson S.L. … O'Brien S.J. (PLoS ONE 2010) 3 46 64
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
  5. Mitochondrial Protein Interaction Mapping Identifies Regulators of Respiratory Chain Function. (PMID: 27499296) Floyd B.J. … Pagliarini D.J. (Mol. Cell 2016) 3 64

Products for COQ5 Gene

Sources for COQ5 Gene

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