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Aliases for PDSS1 Gene

Aliases for PDSS1 Gene

  • Decaprenyl Diphosphate Synthase Subunit 1 2 3 5
  • Prenyl (Decaprenyl) Diphosphate Synthase, Subunit 1 2 3
  • All-Trans-Decaprenyl-Diphosphate Synthase Subunit 1 3 4
  • Decaprenyl Pyrophosphate Synthase Subunit 1 3 4
  • Trans-Prenyltransferase 1 3 4
  • TPT 1 3 4
  • TPRT 3 4
  • Subunit 1 Of Decaprenyl Diphosphate Synthase 3
  • Decaprenyl-Diphosphate Synthase Subunit 1 3
  • Polyprenyl Pyrophosphate Synthetase 3
  • Trans-Prenyltransferase (TPT) 3
  • Coenzyme Q1 Homolog (Yeast) 2
  • Trans-Prenyltransferase 2
  • Coenzyme Q1 Homolog 3
  • EC 2.5.1.91 4
  • COQ10D2 3
  • HDPS1 3
  • COQ1 3
  • DPS1 4
  • TPT 3
  • DPS 3
  • SPS 3

External Ids for PDSS1 Gene

Previous HGNC Symbols for PDSS1 Gene

  • TPRT

Previous GeneCards Identifiers for PDSS1 Gene

  • GC10P027027
  • GC10P026986

Summaries for PDSS1 Gene

Entrez Gene Summary for PDSS1 Gene

  • The protein encoded by this gene is an enzyme that elongates the prenyl side-chain of coenzyme Q, or ubiquinone, one of the key elements in the respiratory chain. The gene product catalyzes the formation of all trans-polyprenyl pyrophosphates from isopentyl diphosphate in the assembly of polyisoprenoid side chains, the first step in coenzyme Q biosynthesis. The protein may be peripherally associated with the inner mitochondrial membrane, though no transit peptide has been definitively identified to date. Defects in this gene are a cause of coenzyme Q10 deficiency. [provided by RefSeq, Jul 2008]

GeneCards Summary for PDSS1 Gene

PDSS1 (Decaprenyl Diphosphate Synthase Subunit 1) is a Protein Coding gene. Diseases associated with PDSS1 include Coenzyme Q10 Deficiency, Primary, 2 and Epilepsy, Familial Temporal Lobe, 4. Among its related pathways are Ubiquinol biosynthesis and Metabolism. Gene Ontology (GO) annotations related to this gene include protein heterodimerization activity and trans-octaprenyltranstransferase activity. An important paralog of this gene is PDSS2.

UniProtKB/Swiss-Prot for PDSS1 Gene

  • Supplies decaprenyl diphosphate, the precursor for the side chain of the isoprenoid quinones ubiquinone-10.

Gene Wiki entry for PDSS1 Gene

Additional gene information for PDSS1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PDSS1 Gene

Genomics for PDSS1 Gene

GeneHancer (GH) Regulatory Elements for PDSS1 Gene

Promoters and enhancers for PDSS1 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
GH10I026696 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 574 +0.6 573 2.7 PKNOX1 ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 POLR2B ZNF766 E2F8 PDSS1 ENSG00000279212 GC10M026672
GH10I026681 Enhancer 1 FANTOM5 Ensembl ENCODE 24.3 -14.5 -14524 2.2 FOSL1 ZSCAN21 JUND ZMYM3 FOS RFX5 PDSS1 ABI1 MASTL SELENOOLP GC10M026672
GH10I026736 Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 13.8 +41.5 41471 4.2 HDGF PKNOX1 FOXA2 BATF IRF4 ATF7 ETV6 BCLAF1 IKZF2 RUNX3 ABI1 PDSS1 ENSG00000223027 RNU6-946P MASTL APBB1IP GC10P026755 ENSG00000235843
GH10I026690 Enhancer 0.3 FANTOM5 67.3 -6.5 -6540 0.4 PDSS1 MASTL ABI1 SELENOOLP GC10M026672
GH10I026684 Enhancer 0.8 Ensembl ENCODE 23.9 -12.5 -12502 0.6 CTCF ZNF654 ATF1 L3MBTL2 TRIM22 E4F1 RAD21 ZNF335 SMC3 MGA PDSS1 SELENOOLP GC10M026672
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around PDSS1 on UCSC Golden Path with GeneCards custom track

Genomic Locations for PDSS1 Gene

Genomic Locations for PDSS1 Gene
chr10:26,697,424-26,748,564
(GRCh38/hg38)
Size:
51,141 bases
Orientation:
Plus strand
chr10:26,986,588-27,035,727
(GRCh37/hg19)

Genomic View for PDSS1 Gene

Genes around PDSS1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PDSS1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PDSS1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PDSS1 Gene

Proteins for PDSS1 Gene

  • Protein details for PDSS1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q5T2R2-DPS1_HUMAN
    Recommended name:
    Decaprenyl-diphosphate synthase subunit 1
    Protein Accession:
    Q5T2R2
    Secondary Accessions:
    • Q53F75
    • Q6P473
    • Q86WQ8
    • Q9Y2W5

    Protein attributes for PDSS1 Gene

    Size:
    415 amino acids
    Molecular mass:
    46261 Da
    Cofactor:
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420;
    Quaternary structure:
    • Heterotetramer of 2 DPS1/TPRT and 2 DLP1 subunits.

    Alternative splice isoforms for PDSS1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PDSS1 Gene

Post-translational modifications for PDSS1 Gene

  • Ubiquitination at isoforms=2, 397 and isoforms=2, 3104

Other Protein References for PDSS1 Gene

No data available for DME Specific Peptides for PDSS1 Gene

Domains & Families for PDSS1 Gene

Gene Families for PDSS1 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins

Protein Domains for PDSS1 Gene

Suggested Antigen Peptide Sequences for PDSS1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q5T2R2

UniProtKB/Swiss-Prot:

DPS1_HUMAN :
  • Belongs to the FPP/GGPP synthase family.
Family:
  • Belongs to the FPP/GGPP synthase family.
genes like me logo Genes that share domains with PDSS1: view

Function for PDSS1 Gene

Molecular function for PDSS1 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
(2E,6E)-farnesyl diphosphate + 7 isopentenyl diphosphate = 7 diphosphate + all-trans-decaprenyl diphosphate.
UniProtKB/Swiss-Prot Function:
Supplies decaprenyl diphosphate, the precursor for the side chain of the isoprenoid quinones ubiquinone-10.

Enzyme Numbers (IUBMB) for PDSS1 Gene

Phenotypes From GWAS Catalog for PDSS1 Gene

Gene Ontology (GO) - Molecular Function for PDSS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000010 contributes_to trans-hexaprenyltranstransferase activity IDA 16262699
GO:0016740 transferase activity IEA --
GO:0046872 metal ion binding IEA --
GO:0046982 protein heterodimerization activity IDA,IEA 16262699
GO:0050347 trans-octaprenyltranstransferase activity IEA --
genes like me logo Genes that share ontologies with PDSS1: view
genes like me logo Genes that share phenotypes with PDSS1: view

Human Phenotype Ontology for PDSS1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

Inhibitory RNA Products

No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for PDSS1 Gene

Localization for PDSS1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PDSS1 Gene

Mitochondrion.

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 PDSS1 gene
Compartment Confidence
mitochondrion 5
cytosol 3
nucleus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for PDSS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA --
GO:0005759 mitochondrial matrix TAS --
GO:1990234 transferase complex IEA,IDA 16262699
genes like me logo Genes that share ontologies with PDSS1: view

Pathways & Interactions for PDSS1 Gene

genes like me logo Genes that share pathways with PDSS1: view

Pathways by source for PDSS1 Gene

1 BioSystems pathway for PDSS1 Gene
1 KEGG pathway for PDSS1 Gene

UniProtKB/Swiss-Prot Q5T2R2-DPS1_HUMAN

  • Pathway: Cofactor biosynthesis; ubiquinone biosynthesis.

Gene Ontology (GO) - Biological Process for PDSS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006744 ubiquinone biosynthetic process TAS --
GO:0008299 isoprenoid biosynthetic process IEA,IDA 16262699
GO:0051290 protein heterotetramerization IEA --
genes like me logo Genes that share ontologies with PDSS1: view

No data available for SIGNOR curated interactions for PDSS1 Gene

Drugs & Compounds for PDSS1 Gene

(1) Drugs for PDSS1 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Isopentenyl pyrophosphate Experimental Pharma 0

(5) Additional Compounds for PDSS1 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
all-trans-Decaprenyl diphosphate
Farnesyl pyrophosphate
  • (2E,6E)-Farnesyl diphosphate
  • (2E,6E)-Farnesyl pyrophosphate
  • (all-E)-Farnesyl diphosphate
  • (E,E)-Farnesyl diphosphate
  • (E,E)-Farnesyl pyrophosphate
13058-04-3
pyrophosphate
  • (4-)Diphosphoric acid ion
  • (P2O74-)Diphosphate
  • Diphosphate
  • Diphosphoric acid
  • PPi
14000-31-8
genes like me logo Genes that share compounds with PDSS1: view

Transcripts for PDSS1 Gene

Unigene Clusters for PDSS1 Gene

Prenyl (decaprenyl) diphosphate synthase, subunit 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for PDSS1 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5a · 5b · 5c ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13a · 13b
SP1: - - -
SP2: - - -
SP3: - - - - -
SP4: -
SP5:
SP6: -

Relevant External Links for PDSS1 Gene

GeneLoc Exon Structure for
PDSS1
ECgene alternative splicing isoforms for
PDSS1

Expression for PDSS1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for PDSS1 Gene

Protein differential expression in normal tissues from HIPED for PDSS1 Gene

This gene is overexpressed in Heart (68.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for PDSS1 Gene



Protein tissue co-expression partners for PDSS1 Gene

NURSA nuclear receptor signaling pathways regulating expression of PDSS1 Gene:

PDSS1

SOURCE GeneReport for Unigene cluster for PDSS1 Gene:

Hs.558468

Evidence on tissue expression from TISSUES for PDSS1 Gene

  • Heart(4.2)
  • Intestine(4.2)
  • Nervous system(4.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for PDSS1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Organs:
Head and neck:
  • brain
  • cranial nerve
  • ear
  • eye
  • head
  • skull
Thorax:
  • aorta
  • heart
  • lung
General:
  • blood
  • blood vessel
  • peripheral nerve
  • peripheral nervous system
  • skin
genes like me logo Genes that share expression patterns with PDSS1: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for PDSS1 Gene

Orthologs for PDSS1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for PDSS1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PDSS1 33 34
  • 97.67 (n)
dog
(Canis familiaris)
Mammalia PDSS1 33 34
  • 90.95 (n)
mouse
(Mus musculus)
Mammalia Pdss1 33 16 34
  • 86.3 (n)
rat
(Rattus norvegicus)
Mammalia Pdss1 33
  • 86.06 (n)
cow
(Bos Taurus)
Mammalia PDSS1 33 34
  • 84.95 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia PDSS1 34
  • 81 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia PDSS1 34
  • 79 (a)
OneToOne
chicken
(Gallus gallus)
Aves PDSS1 33 34
  • 80.4 (n)
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 79 (a)
OneToMany
-- 34
  • 79 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia pdss1 33
  • 76.71 (n)
zebrafish
(Danio rerio)
Actinopterygii pdss1 33 34
  • 69.12 (n)
wufc11f12 33
fruit fly
(Drosophila melanogaster)
Insecta qless 33 34
  • 55.38 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000591 33
  • 54 (n)
worm
(Caenorhabditis elegans)
Secernentea coq-1 34 33
  • 54.09 (n)
OneToOne
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0E17183g 33
  • 53.33 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes COQ1 34 36 33
  • 51.58 (n)
OneToMany
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AER004W 33
  • 51.34 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons GPS1 33
  • 49.95 (n)
rice
(Oryza sativa)
Liliopsida Os06g0678200 33
  • 50.82 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes dps1 33
  • 53.18 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU02305 33
  • 49.95 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 43 (a)
OneToOne
Species where no ortholog for PDSS1 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • 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 urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for PDSS1 Gene

ENSEMBL:
Gene Tree for PDSS1 (if available)
TreeFam:
Gene Tree for PDSS1 (if available)

Paralogs for PDSS1 Gene

Paralogs for PDSS1 Gene

Pseudogenes.org Pseudogenes for PDSS1 Gene

genes like me logo Genes that share paralogs with PDSS1: view

Variants for PDSS1 Gene

Sequence variations from dbSNP and Humsavar for PDSS1 Gene

SNP ID Clin Chr 10 pos Variation AA Info Type
rs1046187 likely-benign, Coenzyme Q10 deficiency, primary 26,746,630(+) T/G 3_prime_UTR_variant, non_coding_transcript_variant
rs1057519353 pathogenic, Coenzyme Q10 deficiency, primary, 2 26,723,858(+) /T coding_sequence_variant, frameshift, non_coding_transcript_variant
rs1057519354 pathogenic, Coenzyme Q10 deficiency, primary, 2 26,746,333(+) A/C coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs116424900 benign, uncertain-significance, not specified, Coenzyme Q10 deficiency, primary 26,720,339(+) A/G coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs119463988 pathogenic, Coenzyme Q10 deficiency, primary, 2, Coenzyme Q10 deficiency, primary, 2 (COQ10D2) [MIM:614651] 26,735,477(+) T/A/G coding_sequence_variant, intron_variant, missense_variant, non_coding_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for PDSS1 Gene

Variant ID Type Subtype PubMed ID
dgv140n67 CNV loss 20364138
dgv382n106 CNV deletion 24896259
esv2670796 CNV deletion 23128226
esv26715 CNV gain+loss 19812545
esv2734406 CNV deletion 23290073
esv2761585 CNV loss 21179565
esv3263829 CNV deletion 24192839
esv3415799 CNV duplication 20981092
esv3546052 CNV deletion 23714750
esv3622697 CNV loss 21293372
esv991084 CNV deletion 20482838
nsv1069034 CNV deletion 25765185
nsv24807 CNV deletion 16902084
nsv550233 CNV loss 21841781
nsv550234 CNV loss 21841781
nsv550235 CNV loss 21841781
nsv819742 CNV gain 19587683
nsv821589 CNV deletion 20802225
nsv825315 CNV loss 20364138
nsv825316 CNV loss 20364138

Variation tolerance for PDSS1 Gene

Residual Variation Intolerance Score: 44.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.10; 51.02% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PDSS1 Gene

Human Gene Mutation Database (HGMD)
PDSS1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PDSS1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PDSS1 Gene

Disorders for PDSS1 Gene

MalaCards: The human disease database

(3) MalaCards diseases for PDSS1 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search PDSS1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

DPS1_HUMAN
  • Coenzyme Q10 deficiency, primary, 2 (COQ10D2) [MIM:614651]: An autosomal recessive multisystem disorder characterized by early-onset deafness, optic atrophy, mild mental retardation, peripheral neuropathy, obesity, livedo reticularis, and cardiac valvulopathy. {ECO:0000269 PubMed:17332895}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for PDSS1

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 PDSS1: view

No data available for Genatlas for PDSS1 Gene

Publications for PDSS1 Gene

  1. Prenyldiphosphate synthase, subunit 1 (PDSS1) and OH-benzoate polyprenyltransferase (COQ2) mutations in ubiquinone deficiency and oxidative phosphorylation disorders. (PMID: 17332895) Mollet J … Rötig A (The Journal of clinical investigation 2007) 3 4 22 58
  2. Quinone-responsive multiple respiratory-chain dysfunction due to widespread coenzyme Q10 deficiency. (PMID: 10972372) Rötig A … Rustin P (Lancet (London, England) 2000) 2 3 4 58
  3. Human variation in alcohol response is influenced by variation in neuronal signaling genes. (PMID: 20201926) Joslyn G … White RL (Alcoholism, clinical and experimental research 2010) 3 44 58
  4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 44 58
  5. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 44 58

Products for PDSS1 Gene

Sources for PDSS1 Gene

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