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PDSS1 Gene

protein-coding   GIFtS: 58
GCID: GC10P026986

Prenyl (Decaprenyl) Diphosphate Synthase, Subunit 1

(Previous name: trans-prenyltransferase)
(Previous symbol: TPRT)
  See PDSS1-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Prenyl (Decaprenyl) Diphosphate Synthase, Subunit 11 2     DPS2
TPRT1 2 3     SPS2
All-Trans-Decaprenyl-Diphosphate Synthase Subunit 12 3     Coenzyme Q1 Homolog2
Decaprenyl Pyrophosphate Synthase Subunit 12 3     Decaprenyl-Diphosphate Synthase Subunit 12
Trans-Prenyltransferase 12 3     hDPS12
TPT 12 3     Polyprenyl Pyrophosphate Synthetase2
COQ12 5     Subunit 1 Of Decaprenyl Diphosphate Synthase2
COQ10D22 5     Trans-Prenyltransferase (TPT)2
TPT2 5     DPS13
Coenzyme Q1 Homolog (Yeast)1     EC 2.5.1.913
trans-prenyltransferase1     

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


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 (prenyl (decaprenyl) diphosphate synthase, subunit 1) is a protein-coding gene. Diseases associated with PDSS1 include coenzyme q10 deficiency, primary, 2, and prosopagnosia. GO annotations related to this gene include trans-octaprenyltranstransferase activity and protein heterodimerization activity. An important paralog of this gene is PDSS2.

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 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000010.10  NT_008705.17  NC_018921.2  
Regulatory elements:
   Search for regulatory transcription factor binding sites for PDSS1
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidPDSS1 promoter sequence
   Search Chromatin IP Primers for PDSS1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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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
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

Explore proteomics data for PDSS1 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys97, Lys104
  • Modification sites at PhosphoSitePlus

  • See PDSS1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_055132.2  
    ENSEMBL proteins: 
     ENSP00000365388   ENSP00000435695   ENSP00000365376  
    Reactome Protein details: Q5T2R2

    PDSS1 Human Recombinant Protein Products:

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    Cloud-Clone Corp. Proteins for PDSS1

     
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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    3 InterPro protein domains:
     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 domain: IPB000092 Polyprenyl synthetase

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


    Find genes that share domains with PDSS1           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: 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

         Gene Ontology (GO): 4 molecular function terms:    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--
         
    Find genes that share ontologies with PDSS1           About GenesLikeMe


    Phenotypes:
         1 MGI phenotypic allele for Pdss1 (no phenotypes)

    Find genes that share phenotypes with PDSS1           About GenesLikeMe

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for PDSS1
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for PDSS1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for PDSS1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for PDSS1

    miRNA
    Products:
        
    miRTarBase miRNAs that target PDSS1:
    hsa-mir-98-5p (MIRT027634), hsa-mir-124-3p (MIRT022672), hsa-mir-106b-5p (MIRT044367), hsa-mir-320a (MIRT044710), hsa-mir-148b-3p (MIRT019328)

    Block miRNA regulation of human, mouse, rat PDSS1 using miScript Target Protectors
    Selected qRT-PCR 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 plasmidPDSS1 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat PDSS1

    Gene Editing
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    Browse Sino Biological Human cDNA Clones
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PDSS1

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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PDSS1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    DPS1_HUMAN, Q5T2R2: Mitochondrion (Potential)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    mitochondrion4
    cytoskeleton1
    cytosol1
    extracellular1
    nucleus1
    plasma membrane1

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion ----
    GO:0005759mitochondrial matrix TAS--

    Find genes that share ontologies with PDSS1           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for PDSS1 About    
    See pathways by source

    SuperPathContained pathways About
    1Ubiquinol biosynthesis
    Ubiquinol biosynthesis0.42
    all-trans-decaprenyl diphosphate biosynthesis0.00
    2Metabolism
    Metabolism0.38
    Metabolism of lipids and lipoproteins0.37
    3superpathway of cholesterol biosynthesis
    Terpenoid backbone biosynthesis0.34


    Find genes that share SuperPaths with PDSS1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


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

    1 Reactome Pathway for PDSS1
        Ubiquinol biosynthesis


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

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

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for PDSS1
    Interactions:

        Search GeneGlobe Interaction Network for PDSS1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for PDSS1 (Q5T2R23 ENSP000003653884) via UniProtKB, MINT, STRING, and/or I2D (see all 37)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    HSPA9P386463, ENSP000002971854I2D: score=1 STRING: ENSP00000297185
    SOD1P004413, ENSP000002701424I2D: score=1 STRING: ENSP00000270142
    PHBP352323, ENSP000003004084I2D: score=1 STRING: ENSP00000300408
    GCH1P307933I2D: score=1 
    HAO1Q9UJM83I2D: score=1 
    About this table

    Gene Ontology (GO): 4 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006744ubiquinone biosynthetic process TAS--
    GO:0008299isoprenoid biosynthetic process IDA16262699
    GO:0044281small molecule metabolic process TAS--
    GO:0051290protein heterotetramerization IEA--

    Find genes that share ontologies with PDSS1           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for PDSS1 (DPS1)

    2 Novoseek inferred 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)



    Find genes that share compounds with PDSS1           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    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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    Block miRNA regulation of human, mouse, rat PDSS1 using miScript Target Protectors
    Selected qRT-PCR 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 plasmidPDSS1 3' UTR sequence
    Inhib. RNA
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    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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    OriGene qSTAR qPCR primer pairs in human, mouse for PDSS1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat PDSS1
      QuantiTect SYBR Green Assays in human, mouse, rat PDSS1
      QuantiFast Probe-based Assays in human, mouse, rat PDSS1

    Additional mRNA 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 

    Selected AceView cDNA sequences (see all 82):

    AI261617 BM786570 NM_014317 CA310702 CR609440 AA927982 BP369085 AA503063 
    CB152847 BM994354 AI364963 BQ018783 AL558274 BC049211 AW275906 BU620148 
    AW079470 BM806663 AI311481 BM824056 CR591586 BI916825 AW848450 BC063635 

    GeneLoc Exon Structure

    Selected 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

    (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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    PDSS1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TAAGGCCATT
    PDSS1 Expression
    About this image

    PDSS1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    PDSS1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.558468
        Custom PCR Arrays for PDSS1
    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for PDSS1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat PDSS1
    QuantiTect SYBR Green Assays in human, mouse, rat PDSS1
    QuantiFast Probe-based Assays in human, mouse, rat PDSS1
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PDSS1

    (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)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for PDSS1 gene from Selected species (see all 23)    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 86.3(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 80.4(n)
    85.3(a)
      420490  XM_418592.4  XP_418592.4 
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    Uncharacterized protein
    79(a)
    79(a)
    many → 1
    many → 1
    6(14658171-14672051)
    AAWZ02040095(1464-4441)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia pdss11 prenyl (decaprenyl) diphosphate synthase, subunit 1 76.71(n)
    80.82(a)
      779676  NM_001078761.1  NP_001072229.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufc11f122 Transcribed sequence with weak similarity to protein more 76.38(n)    BI708490.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta qless1 qless 55.38(n)
    55.9(a)
      43697  NM_170546.2  NP_733425.1 
    worm
    (Caenorhabditis elegans)
    Secernentea coq-11 coq-1 54.09(n)
    50.89(a)
      172190  NM_059187.5  NP_491588.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes COQ1(YBR003W)4
    COQ11
    Hexaprenyl pyrophosphate synthetase, catalyzes the more4
    COQ11
    51.58(n)1
    43.35(a)1
      2(242809-244230)4
    8522881, 4  NP_009557.11, 4 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons GPS11 GPS1 49.95(n)
    41(a)
      818028  NM_001036406.2  NP_001031483.1 
    rice
    (Oryza sativa)
    Liliopsida Os06g06782001 Os06g0678200 50.82(n)
    43.56(a)
      4341844  NM_001064897.1  NP_001058362.1 


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

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

    Find genes that share paralogs with PDSS1           About GenesLikeMe


    2 Pseudogenes.org Pseudogenes for PDSS1
    PGOHUM00000250455 PGOHUM00000263211


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for PDSS1 (see all 1228)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 10 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0348794
    Coenzyme Q10 deficiency, primary, 2 (COQ10D2)4--see VAR_0348792 D E mis40--------
    rs561493441,2
    C,F--26644268(+) AGATAG/ATGTTT 1 -- us2k12Minor allele frequency- A:0.10WA 120
    rs18093591,2
    C,F,A,H--26644279(-) GAGGAA/GGTTAA 1 -- us2k113Minor allele frequency- G:0.16NS EA NA WA CSA 788
    rs18093581,2
    C,F,A--26644304(-) GACCCA/CACTAG 1 -- us2k17Minor allele frequency- C:0.44NA WA CSA 130
    rs1469699161,2
    C--26644310(+) GGGTCA/TAAAGA 1 -- us2k10--------
    rs1379664001,2
    C--26644329(+) TGAATG/TCCGTA 1 -- us2k10--------
    rs1434300821,2
    C--26644333(+) TTCCGC/TATGTC 1 -- us2k10--------
    rs1457347721,2
    C--26644346(+) ATTGGA/TAGCTT 1 -- us2k10--------
    rs23681821,2
    C,F--26644348(+) TGGTAG/CGTTAC 1 -- us2k13Minor allele frequency- C:0.33NA 6
    rs24481171,2
    C--26644349(-) AGTAAC/GCTACC 1 -- us2k14Minor allele frequency- G:0.14NA WA CSA 7

    HapMap Linkage Disequilibrium report for PDSS1 (26986588 - 27035727 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for PDSS1 (see all 11):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2670796CNV Deletion23128226
    nsv821589CNV Deletion20802225
    esv2734406CNV Deletion23290073
    esv991084CNV Deletion20482838
    dgv140n67CNV Loss20364138
    nsv24807CNV Loss16902084
    nsv825315CNV Loss20364138
    nsv825316CNV Loss20364138
    nsv819742CNV Gain19587683
    nsv894975CNV Gain21882294

    Human Gene Mutation Database (HGMD): PDSS1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing PDSS1
    DNA2.0 Custom Variant and Variant Library Synthesis for PDSS1

    (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.)
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    OMIM gene information: 607429   
    OMIM disorders: 614651  
    UniProtKB/Swiss-Prot: DPS1_HUMAN, Q5T2R2
  • 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. Note=The disease is caused by mutations affecting the gene
    represented in this entry

  • 4 diseases for PDSS1:    
    About MalaCards
    coenzyme q10 deficiency, primary, 2    prosopagnosia    pdss1-related coenzyme q10 deficiency    splenic infarction

    3 diseases from the University of Copenhagen DISEASES database for PDSS1:
    Prosopagnosia     Hemophagocytic lymphohistiocytosis     Splenic infarction

    Find genes that share disorders with PDSS1           About GenesLikeMe

    Genetic Association Database (GAD): PDSS1
    Human Genome Epidemiology (HuGE) Navigator: PDSS1 (5 documents)

    Export disorders for PDSS1 gene to outside databases

    (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)
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    PubMed articles for PDSS1 gene, integrated from 10 sources (see all 26):
    (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. (Lancet 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. (J. Clin. Invest. 2007)
    3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    4. Human variation in alcohol response is influenced by variation in neuronal signaling genes. (PubMed id 20201926)1, 4 Joslyn G....White R.L. (Alcohol. Clin. Exp. Res. 2010)
    5. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (PLoS ONE 2010)
    6. Polymorphisms in the estrogen receptor 1 and vitamin C and matrix metalloproteinase gene families are associated with susceptibility to lymphoma. (PubMed id 18636124)1, 4 Skibola C.F....Smith M.T. (PLoS ONE 2008)
    7. Characterization of solanesyl and decaprenyl diphosphate synthases in mice and humans. (PubMed id 16262699)1, 2 Saiki R.... Kawamukai M. (FEBS J. 2005)
    8. 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. (Genome Res. 2004)
    9. The DNA sequence and comparative analysis of human chromosome 10. (PubMed id 15164054)1, 2 Deloukas P.... Rogers J. (Nature 2004)
    10. Regulation of coenzyme Q biosynthesis. (PubMed id 7752843)1, 9 Appelkvist E.L....Dallner G. (Mol. Aspects Med. 1994)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

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

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for PDSS1 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=PDSS1[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    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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