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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

PDSS1 Gene

protein-coding   GIFtS: 55
GCID: GC10P026986

prenyl (decaprenyl) diphosphate synthase, subunit 1

(Previous name: trans-prenyltransferase )
(Previous symbol: TPRT)
 Explore 11 diseases affiliated with
PDSS1 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for PDSS1    

Aliases
for PDSS1 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Prenyl (Decaprenyl) Diphosphate Synthase, Subunit 11 2     RP13-16H11.32
TPRT1 2 3     SPS2
COQ11 2 5     Coenzyme Q1 Homolog2
TPT1 2 5     Decaprenyl-Diphosphate Synthase Subunit 12
All-Trans-Decaprenyl-Diphosphate Synthase Subunit 12 3     HDPS11
Decaprenyl Pyrophosphate Synthase Subunit 12 3     Polyprenyl Pyrophosphate Synthetase2
Trans-Prenyltransferase 12 3     Subunit 1 Of Decaprenyl Diphosphate Synthase2
TPT 12 3     Trans-Prenyltransferase (TPT)2
Trans-Prenyltransferase1     DPS13
COQ10D22     EC 2.5.1.913
DPS2     

External Ids:    HGNC: 177591   Entrez Gene: 235902   Ensembl: ENSG000001484597   OMIM: 6074295   UniProtKB: Q5T2R23   

Export aliases for PDSS1 gene to outside databases

Previous GC identifers: GC10P027027 GC10P026646


Summaries
for PDSS1 gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for PDSS1:
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)

UniProtKB/Swiss-Prot: DPS1_HUMAN, Q5T2R2
Function: Supplies decaprenyl diphosphate, the precursor for the side chain of the isoprenoid quinones ubiquinone-10

Gene Wiki entry for PDSS1


Genomic Views
for PDSS1 gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000010.10  NC_018921.1  NT_008705.16  
Regulatory elements:
   Search SABiosciences Regulatory transcription factor binding sites for PDSS1
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: PDSS1 promoter sequence
   Search SABiosciences Chromatin IP Primers for PDSS1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat PDSS1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 10p12.1   Ensembl cytogenetic band:  10p12.1   HGNC cytogenetic band: 10p12.2

PDSS1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PDSS1 gene location

GeneLoc information about chromosome 10         GeneLoc Exon Structure

GeneLoc location for GC10P026986:  view genomic region     (about GC identifiers)

Start:
 26,986,588 bp from pter      End:
 27,035,727 bp from pter
Size:
 49,140 bases      Orientation:
 plus strand

Proteins
for PDSS1 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
UniProtKB/Swiss-Prot: DPS1_HUMAN, Q5T2R2 (See protein sequence)
Recommended Name: Decaprenyl-diphosphate synthase subunit 1  
Size: 415 amino acids; 46261 Da
Cofactor: Binds 3 magnesium ions per subunit (By similarity)
Subunit: Heterotetramer of 2 DPS1/TPRT and 2 DLP1 subunits
Subcellular location: Mitochondrion (Potential)
Secondary accessions: Q53F75 Q6P473 Q86WQ8 Q9Y2W5
Alternative splicing: 3 isoforms:  Q5T2R2-1   Q5T2R2-2   Q5T2R2-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for PDSS1: NX_Q5T2R2

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q5T2R2

    • PDSS1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_055132.2  
    ENSEMBL proteins: 
     ENSP00000365388   ENSP00000435695   ENSP00000365376  
    Reactome Protein details: Q5T2R2
    Human Recombinant Protein Products: 
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    Novus Biologicals PDSS1 Proteins
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    Browse ProSpec Recombinant Proteins
    Uscn Proteins for PDSS1

    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion IEA--


    PDSS1 for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for PDSS1

    Protein Domains /
    Families
    for PDSS1 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    PDSS1 for domains           About GeneDecksing

    3 InterPro domains/families:
     IPR000092 Polyprenyl_synt
     IPR017446 Polyprenyl_synth-rel
     IPR008949 Terpenoid_synth

    Graphical View of Domain Structure for InterPro Entry Q5T2R2

    ProtoNet protein and cluster: Q5T2R2

    1 Blocks protein family: IPB000092 Polyprenyl synthetase

    UniProtKB/Swiss-Prot: DPS1_HUMAN, Q5T2R2
    Similarity: Belongs to the FPP/GGPP synthase family


    Function
    for PDSS1 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         UniProtKB/Swiss-Prot: DPS1_HUMAN, Q5T2R2
    Function: Supplies decaprenyl diphosphate, the precursor for the side chain of the isoprenoid quinones ubiquinone-10
    Catalytic activity: (2E,6E)-farnesyl diphosphate + 7 isopentenyl diphosphate = 7 diphosphate + all-trans-decaprenyl
    diphosphate

    Enzyme Number (IUBMB): EC 2.5.1.911

    miRNA
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    hsa-miR-30c hsa-miR-22 hsa-miR-622 hsa-miR-30d hsa-miR-30a hsa-miR-30b hsa-miR-3143 hsa-miR-3622a-5p
    SwitchGear 3'UTR luciferase reporter plasmid: PDSS1 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for PDSS1 (see all 4)
    OriGene shRNA RFP: PDSS1
    OriGene siRNA: PDSS1
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    Gene Editing
    Products:    		DNA2.0 Custom Protein Engineering Service for PDSS1

    Clone
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PDSS1 

    Cell Line
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    Search LifeMap BioReagents cell lines for PDSS1

    In Situ Assay
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    Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000010contributes to trans-hexaprenyltranstransferase activity IDA16262699
    GO:0046872metal ion binding IEA--
    GO:0046982protein heterodimerization activity IDA16262699
    GO:0050347trans-octaprenyltranstransferase activity IEA--


    PDSS1 for ontologies           About GeneDecksing


    Animal Models:
         1 MGI phenotypic allele for Pdss1 (no phenotypes)

    PDSS1 for phenotypes           About GeneDecksing


    Pathways & Interactions
    for PDSS1 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Metabolism
    		Metabolism1.00
    		Metabolism of lipids and lipoproteins0.34
    2all-trans-decaprenyl diphosphate biosynthesis
    		all-trans-decaprenyl diphosphate biosynthesis1.00
    3superpathway of geranylgeranyldiphosphate biosynthesis I (via mevalonate)
    		Terpenoid backbone biosynthesis0.71
    4Ubiquinone and other terpenoid-quinone biosynthesis
    		Ubiquinol biosynthesis0.56

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


    1 BioSystems Pathway for PDSS1 
        all-trans-decaprenyl diphosphate biosynthesis

    3        Reactome Pathways for PDSS1
        Metabolism
    Ubiquinol biosynthesis
    Metabolism of lipids and lipoproteins


    1         Kegg Pathway  (Kegg details for PDSS1):
        Terpenoid backbone biosynthesis

    UniProtKB/Swiss-Prot: DPS1_HUMAN, Q5T2R2
    Pathway: Cofactor biosynthesis; ubiquinone biosynthesis


    PDSS1 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for PDSS1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 10)

    5/22 Interacting proteins for PDSS1 (Q5T2R23 ENSP000003653884) via UniProtKB, MINT, STRING, and/or I2D (see all 22)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    SOD1P004413, ENSP000002701424I2D: score=1 STRING: ENSP00000270142
    GCH1P307933I2D: score=1 
    HAO1Q9UJM83I2D: score=1 
    HMBSP083973I2D: score=1 
    HSP90AA1P079003I2D: score=1 
    About this table

    Gene Ontology (GO): 3 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006744ubiquinone biosynthetic process IEA--
    GO:0008299isoprenoid biosynthetic process IDA16262699
    GO:0051290protein heterotetramerization IEA--


    PDSS1 for ontologies           About GeneDecksing



    Drugs & Compounds
    for PDSS1 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    PDSS1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for PDSS1
    2 Novoseek chemical compound relationships for PDSS1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    coq1 93.6 6 16863505 (3), 8405427 (2), 17332895 (1)
    coq10 72.1 1 17332895 (1)

    Search CenterWatch for drugs/clinical trials and news about PDSS1 / DPS1 

    Transcripts
    for PDSS1 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    REFSEQ mRNAs for PDSS1 gene: 
    NM_014317.3  

    Unigene Cluster for PDSS1:

    Prenyl (decaprenyl) diphosphate synthase, subunit 1
    Hs.558468  [show with all ESTs]
    Unigene Representative Sequence: AB209763
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000376215(uc001isv.3) ENST00000473224 ENST00000491711 ENST00000470978(uc010qdf.2)
    ENST00000376203(uc001isw.3)

    miRNA
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    8/9 QIAGEN miScript miRNA Assays for microRNAs that regulate PDSS1 (see all 9):
    hsa-miR-30c hsa-miR-22 hsa-miR-622 hsa-miR-30d hsa-miR-30a hsa-miR-30b hsa-miR-3143 hsa-miR-3622a-5p
    SwitchGear 3'UTR luciferase reporter plasmid: PDSS1 3' UTR sequence
    Inhib. RNA
    Products:             		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for PDSS1 (see all 4)
    OriGene shRNA RFP: PDSS1
    OriGene siRNA: PDSS1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat PDSS1
    Clone
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    OriGene custom cloning services – gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
    GenScript: all cDNA clones in your preferred vector: PDSS1 (NM_014317)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PDSS1 
    Primer
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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat PDSS1

    Additional cDNA sequence: 

    AB209763.1 AB210838.1 AF118395.1 AK024802.1 AK096048.1 AK223414.1 AK296288.1 BC049211.1 
    BC063635.1 

    11 DOTS entries:

    DT.101986500  DT.101986503  DT.100827868  DT.109927  DT.97847417  DT.95272925  DT.121230435  DT.121230497 
    DT.95272927  DT.95283000  DT.117833 

    24/82 AceView cDNA sequences (see all 82):

    AW079470 BU620148 AW275906 BC049211 BI916825 AW848450 BM786570 NM_014317 
    BM994354 CB152847 AA927982 CR609440 BP369085 AA503063 CA310702 AI261617 
    AI311481 BM806663 BM824056 CR591586 AL558274 AI364963 BQ018783 BQ772852 

    GeneLoc Exon Structure

    5/6 Alternative Splicing Database (ASD) splice patterns (SP) for PDSS1 (see all 6)    About this scheme

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


    ECgene alternative splicing isoforms for PDSS1

    Expression
    for PDSS1 gene

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    PDSS1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TAAGGCCATT

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image
    See PDSS1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for PDSS1

    SOURCE GeneReport for Unigene cluster: Hs.558468
        SABiosciences Custom PCR Arrays for PDSS1
    Primer
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    In Situ
    Assay Products:     
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PDSS1

    Orthologs
    for PDSS1 gene

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section
    This gene was present in the last universal common ancestor (LUCA).

    Orthologs for PDSS1 gene from 10/37 species (see all 37)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    mouse
    (Mus musculus)    		 Mammalia Pdss11 , 5 prenyl (solanesyl) diphosphate synthase, subunit 11, 5 86.22(n)1
    85.89(a)1    		   2 (15.17 cM)5
    560751  NM_019501.31  NP_062374.21 
     228955225 
    chicken
    (Gallus gallus)    		 Aves PDSS11 prenyl (decaprenyl) diphosphate synthase, subunit 1 76.83(n)
    78.75(a)    		   420490  XM_418592.3  XP_418592.3 
    lizard
    (Anolis carolinensis)    		 Reptilia --
    --
    		 --
    		 82(a)
    81(a)
    		 many → 1
    many → 1
    		 AAWZ02040095(1464-3731)
    6(14658171-14669757)
    zebrafish
    (Danio rerio)    		 Actinopterygii wufc11f122 Transcribed sequence with weak similarity to protein more 76.38(n)    BI708490.1 
    fruit fly
    (Drosophila melanogaster)    		 Insecta qless1 CG31005-PA 53.35(n)
    52.34(a)    		   43697  NM_170546.1  NP_733425.1 
    worm
    (Caenorhabditis elegans)    		 Secernentea coq-11 Protein COQ-1 54.15(n)
    50.9(a)    		   172190  NM_059187.4  NP_491588.1 
    baker's yeast
    (Saccharomyces cerevisiae)    		 Saccharomycetes COQ1(YBR003W)4
    COQ11    		 Hexaprenyl pyrophosphate synthetase, catalyzes the more4
    Coq1p1    		 51.58(n)1
    43.35(a)1    		   2(242809-244230)4
    8522881, 4  NP_009557.11, 4 
    thale cress
    (Arabidopsis thaliana)    		 eudicotyledons GPS11 geranyl diphosphate synthase 1 49.95(n)
    41(a)    		   818028  NM_001036406.2  NP_001031483.1 
    rice
    (Oryza sativa)    		 Liliopsida Os06g06782001 hypothetical protein 50.82(n)
    43.56(a)    		   4341844  NM_001064897.1  NP_001058362.1 
    E. coli
    (Escherichia coli)    		 Gamma proteobacteria ispB6
    		 octaprenyl diphosphate synthase
    		 29(a)
    		 1 ↔ 1
    		 Chromosome(3331732-3332703)


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

    Paralogs
    for PDSS1 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for PDSS1 gene
    PDSS22  

    PDSS1 for paralogs           About GeneDecksing


    2 Pseudogenes.org Pseudogenes for PDSS1
    PGOHUM00000250455 PGOHUM00000263211


    Genomic Variants
    for PDSS1 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/1045 NCBI SNPs in PDSS1 are shown (see all 1045)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 10 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs561493441,2
    		C,,--26644268(+) AGATAG/ATGTTT 1 -- us2k12Minor allele frequency- A:0.10WA 120
    rs23681821,2
    		C,F,--26644348(+) TGGTAG/CGTTAC 1 -- us2k13Minor allele frequency- C:0.33NA 6
    rs110152311,2
    		C,F,H,--26644805(+) GCAATC/GTCTAA 1 -- us2k110Minor allele frequency- G:0.02NS EA NA 1180
    rs776156671,2
    		F,--26645418(+) TGCGCT/AGAATG 1 -- us2k11Minor allele frequency- A:0.02EA 120
    rs178558571,2
    		--26646385(+) TGCGGG/TACCGT 2 G V mis1 ese30--------
    rs1115344551,2
    		C,--26646677(+) GAGCGT/-TTTGG 1 -- int11Minor allele frequency- -:0.50CSA 2
    rs786765731,2
    		C,F,--26646799(+) TACTTT/CGGAGT 1 -- int11Minor allele frequency- C:0.09NA 120
    rs70829731,2
    		C,--26647020(+) AAAGGC/TCCGAG 1 -- int10--------
    rs781418491,2
    		--26647353(+) CCAGTA/GTGAAA 1 -- int12Minor allele frequency- G:0.09CSA WA 120
    rs787735361,2
    		F,--26647652(+) AAGATT/CACAGT 1 -- int11Minor allele frequency- C:0.03WA 118

    HapMap Linkage Disequilibrium report for PDSS1 (26986588 - 27035727 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 5 variations for PDSS1
         5 CNVs: 85148 58436 5588 65622 75153
    Human Gene Mutation Database (HGMD): PDSS1

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing PDSS1
    DNA2.0 Custom Variant and Variant Library Synthesis for PDSS1

    Disorders / Diseases
    for PDSS1 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    PDSS1 for disorders           About GeneDecksing

    OMIM gene information: 607429   
    OMIM disorders: 607426  
    UniProtKB/Swiss-Prot: DPS1_HUMAN, Q5T2R2
  • Defects in PDSS1 are the cause of coenzyme Q10 deficiency, primary, type 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

    11 diseases for PDSS1:    About MalaCards
    dna topoisomerase ii    splenic infarction    chronic fatigue syndrome    prosopagnosia
    encephalomyopathy    encephalomyelitis    pharyngitis    pneumonia
    tuberculosis    malaria    mycobacterium tuberculosis

    2 diseases from the University of Copenhagen DISEASES database for PDSS1:
    Prosopagnosia     Splenic infarction
    Human Genome Epidemiology (HuGE) Navigator: PDSS1 (5 documents)

    Export disorders for PDSS1 gene to outside databases

    Publications
    for PDSS1 gene

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for PDSS1 gene, integrated from 9 sources (see all 24):
    (articles sorted by number of sources associating them with PDSS1)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. Quinone-responsive multiple respiratory-chain dysfunction due to widespread coenzyme Q10 deficiency. (PubMed id 10972372)1, 2, 3 Roetig A.... Rustin P. (2000)
    2. Prenyldiphosphate synthase, subunit 1 (PDSS1) and OH-benzoate polyprenyltransferase (COQ2) mutations in ubiquinone deficiency and oxidative phosphorylation disorders. (PubMed id 17332895)1, 2, 9 Mollet J.... Rotig A. (2007)
    3. Characterization of solanesyl and decaprenyl diphosphate synthases in mice and humans. (PubMed id 16262699)1, 2 Saiki R.... Kawamukai M. (2005)
    4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    5. The DNA sequence and comparative analysis of human chromosome 10. (PubMed id 15164054)1, 2 Deloukas P.... Rogers J. (2004)
    6. Regulation of coenzyme Q biosynthesis. (PubMed id 7752843)1, 9 Appelkvist E.L....Dallner G. (1994)
    7. A proteome-wide, quantitative survey of in vivo ubiqui tylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (2011)
    8. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1 Rose J.E....Uhl G.R. (2010)
    9. Human Variation in Alcohol Response Is Influenced by Variation in Neuronal Signaling Genes. (PubMed id 20201926)1 Joslyn G....White R.L. (2010)
    10. A subunit of decaprenyl diphosphate synthase stabiliz es octaprenyl diphosphate synthase in Escherichia coli by forming a high-molecu lar weight complex. (PubMed id 20051244)1 Cui T.Z....Kawamukai M. (2010)

    External Searches for PDSS1 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
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    Genome Databases showing PDSS1 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 23590 HGNC: 17759 AceView: TPRT Ensembl:ENSG00000148459 euGenes: HUgn23590
    ECgene: PDSS1 Kegg: 23590 H-InvDB: PDSS1

    Other Databases showing PDSS1 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing PDSS1 gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for PDSS1 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/PDSS1

    Intellectual Property
    for PDSS1 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		Patent Information for PDSS1 gene:
    Search GeneIP for patents involving PDSS1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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