Human Gene PDSS1 (uc001isw.3)
  Description: Homo sapiens prenyl (decaprenyl) diphosphate synthase, subunit 1 (PDSS1), mRNA.
RefSeq Summary (NM_014317): 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]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments.
Transcript (Including UTRs)
   Position: hg19 chr10:26,986,595-27,035,726 Size: 49,132 Total Exon Count: 10 Strand: +
Coding Region
   Position: hg19 chr10:26,986,641-27,035,266 Size: 48,626 Coding Exon Count: 10 

Page IndexSequence and LinksPrimersGenetic AssociationsMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
mRNA DescriptionsPathwaysOther NamesGeneReviewsModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr10:26,986,595-27,035,726)mRNA (may differ from genome)Protein (306 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblExonPrimerGeneCardsGeneNetwork
H-INVHGNCLynxMalacardsMGIPubMed
ReactomeTreefamUniProtKBWikipedia

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): PDSS1
CDC HuGE Published Literature: PDSS1

-  MalaCards Disease Associations
  MalaCards Gene Search: PDSS1
Diseases sorted by gene-association score: coenzyme q10 deficiency, primary, 2* (1580), pdss1-related coenzyme q10 deficiency* (500), epilepsy, familial temporal lobe, 4 (10), glutaric acidemia iic (5), leber optic atrophy (1)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
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-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 6.26 RPKM in Cells - EBV-transformed lymphocytes
Total median expression: 75.58 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -14.1046-0.307 Picture PostScript Text
3' UTR -101.30460-0.220 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  Pfam Domains:
PF00348 - Polyprenyl synthetase

SCOP Domains:
48576 - Terpenoid synthases

ModBase Predicted Comparative 3D Structure on Q5T2R2-2
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
      
      
      

-  Descriptions from all associated GenBank mRNAs
  AK024802 - Homo sapiens cDNA: FLJ21149 fis, clone CAS09472, highly similar to AF118395 Homo sapiens trans-prenyltransferase mRNA.
AK223414 - Homo sapiens mRNA for trans-prenyltransferase variant, clone: FCC109D08.
AB210838 - Homo sapiens hDPS1 mRNA for subunit 1 of decaprenyl diphosphate synthase, complete cds.
LF383676 - JP 2014500723-A/191179: Polycomb-Associated Non-Coding RNAs.
BC063635 - Homo sapiens prenyl (decaprenyl) diphosphate synthase, subunit 1, mRNA (cDNA clone MGC:70953 IMAGE:4397753), complete cds.
KJ902358 - Synthetic construct Homo sapiens clone ccsbBroadEn_11752 PDSS1 gene, encodes complete protein.
BC049211 - Homo sapiens prenyl (decaprenyl) diphosphate synthase, subunit 1, mRNA (cDNA clone IMAGE:5241998), partial cds.
AF118395 - Homo sapiens trans-prenyltransferase mRNA, complete cds.
AB209763 - Homo sapiens mRNA for trans-prenyltransferase variant protein.
MA619253 - JP 2018138019-A/191179: Polycomb-Associated Non-Coding RNAs.
JD065858 - Sequence 46882 from Patent EP1572962.
LF346240 - JP 2014500723-A/153743: Polycomb-Associated Non-Coding RNAs.
LF346243 - JP 2014500723-A/153746: Polycomb-Associated Non-Coding RNAs.
MA581817 - JP 2018138019-A/153743: Polycomb-Associated Non-Coding RNAs.
MA581820 - JP 2018138019-A/153746: Polycomb-Associated Non-Coding RNAs.
AK296288 - Homo sapiens cDNA FLJ51222 complete cds, highly similar to Decaprenyl-diphosphate synthase subunit 1 (EC 2.5.1.-).
LF346250 - JP 2014500723-A/153753: Polycomb-Associated Non-Coding RNAs.
JD503134 - Sequence 484158 from Patent EP1572962.
JD095673 - Sequence 76697 from Patent EP1572962.
JD230556 - Sequence 211580 from Patent EP1572962.
MA581827 - JP 2018138019-A/153753: Polycomb-Associated Non-Coding RNAs.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa00900 - Terpenoid backbone biosynthesis

Reactome (by CSHL, EBI, and GO)

Protein Q5T2R2 (Reactome details) participates in the following event(s):

R-HSA-2162253 FPP and IPPP are combined into all-E-10PrP2 by PDSS1/2 tetramer
R-HSA-2142789 Ubiquinol biosynthesis
R-HSA-8978934 Metabolism of cofactors
R-HSA-196854 Metabolism of vitamins and cofactors
R-HSA-1430728 Metabolism

-  Other Names for This Gene
  Alternate Gene Symbols: BC063635, DPS1, Q5T2R2-2, TPRT
UCSC ID: uc001isw.3
RefSeq Accession: NM_014317
Protein: Q5T2R2-2, splice isoform of Q5T2R2

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene PDSS1:
ataxias (Hereditary Ataxia Overview)
coq10-def (Primary Coenzyme Q10 Deficiency Overview)

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: BC063635.1
exon count: 10CDS single in 3' UTR: no RNA size: 1458
ORF size: 921CDS single in intron: no Alignment % ID: 99.86
txCdsPredict score: 2042.00frame shift in genome: no % Coverage: 95.82
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.