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DHDDS Gene

protein-coding   GIFtS: 61
GCID: GC01P026758

Dehydrodolichyl Diphosphate Synthase

  See DHDDS-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
Dehydrodolichyl Diphosphate Synthase1 2     DS2
HDS2 3 5     cis-IPTase2
Dedol-PP Synthase2 3     cis-isoprenyltransferase2
Epididymis Tissue Protein Li 189m2 3     Cis-Prenyl Transferase2
CIT2 3     Cis-IPTase3
RP592 5     Cis-isoprenyltransferase3
CPT2     EC 2.5.1.-3

External Ids:    HGNC: 206031   Entrez Gene: 799472   Ensembl: ENSG000001176827   OMIM: 6081725   UniProtKB: Q86SQ93   

Export aliases for DHDDS gene to outside databases

Previous GC identifers: GC01P025991 GC01P026363 GC01P026442 GC01P026631 GC01P025013


(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 DHDDS Gene:
The protein encoded by this gene catalyzes cis-prenyl chain elongation to produce the polyprenyl backbone of
dolichol, a glycosyl carrier lipid required for the biosynthesis of several classes of glycoproteins. Mutations
in this gene are associated with retinitis pigmentosa type 59. Alternatively spliced transcript variants encoding
different isoforms have been described for this gene. (provided by RefSeq, Aug 2011)

GeneCards Summary for DHDDS Gene:
DHDDS (dehydrodolichyl diphosphate synthase) is a protein-coding gene. Diseases associated with DHDDS include dhdds-related retinitis pigmentosa, and retinitis pigmentosa. GO annotations related to this gene include transferase activity, transferring alkyl or aryl (other than methyl) groups.

UniProtKB/Swiss-Prot: DHDDS_HUMAN, Q86SQ9
Function: Catalyzes cis-prenyl chain elongation to produce the polyprenyl backbone of dolichol, a glycosyl
carrier-lipid required for the biosynthesis of several classes of glycoprotein

Gene Wiki entry for DHDDS 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_000001.10  NT_032977.10  NC_018912.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the DHDDS gene promoter:
         Sp1   ARP-1   c-Myb   Nkx2-5   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidDHDDS promoter sequence
   Search Chromatin IP Primers for DHDDS

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat DHDDS


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

Entrez Gene cytogenetic band: 1p36.11   Ensembl cytogenetic band:  1p36.11   HGNC cytogenetic band: 1p35.3

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

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P026758:  view genomic region     (about GC identifiers)

Start:
26,758,773 bp from pter      End:
26,797,797 bp from pter
Size:
39,025 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: DHDDS_HUMAN, Q86SQ9 (See protein sequence)
Recommended Name: Dehydrodolichyl diphosphate synthase  
Size: 333 amino acids; 38657 Da
Subunit: Interacts with NUS1/NgBR, the interaction is required for efficient activity. Interacts with NPC2
Secondary accessions: B7Z4B9 B7ZB20 D3DPK7 D3DPK8 D3DPK9 E9KL43 Q5T0A4 Q8NE90 Q9BTG5 Q9BTK3
Q9H905
Alternative splicing: 4 isoforms:  Q86SQ9-1   Q86SQ9-2   Q86SQ9-3   Q86SQ9-4   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for DHDDS: NX_Q86SQ9

Explore proteomics data for DHDDS at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys5, Lys320
  • Modification sites at PhosphoSitePlus

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

    REFSEQ proteins (4 alternative transcripts): 
    NP_001230493.1  NP_001230494.1  NP_079163.2  NP_995583.1  

    ENSEMBL proteins: 
     ENSP00000403529   ENSP00000399177   ENSP00000434984   ENSP00000236342   ENSP00000434219  
     ENSP00000363300   ENSP00000353104   ENSP00000436119   ENSP00000436764   ENSP00000434185  
     ENSP00000431407   ENSP00000433976   ENSP00000405604   ENSP00000433491   ENSP00000397584  
     ENSP00000399781   ENSP00000393961  
    Reactome Protein details: Q86SQ9

    DHDDS Human Recombinant Protein Products:

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    Search eBioscience for ELISAs for DHDDS 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    2 InterPro protein domains:
     IPR001441 UPP_synth-like
     IPR018520 UPP_synth-like_CS

    Graphical View of Domain Structure for InterPro Entry Q86SQ9

    ProtoNet protein and cluster: Q86SQ9

    1 Blocks protein domain: IPB001441 Di-trans-poly-cis-decaprenylcistransferase

    UniProtKB/Swiss-Prot: DHDDS_HUMAN, Q86SQ9
    Similarity: Belongs to the UPP synthase family


    Find genes that share domains with DHDDS           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: DHDDS_HUMAN, Q86SQ9
    Function: Catalyzes cis-prenyl chain elongation to produce the polyprenyl backbone of dolichol, a glycosyl
    carrier-lipid required for the biosynthesis of several classes of glycoprotein

         Enzyme Number (IUBMB): EC 2.5.1.-1

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI15110773
    GO:0016765transferase activity, transferring alkyl or aryl (other than methyl) groups IEA--
         
    Find genes that share ontologies with DHDDS           About GenesLikeMe


    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for DHDDS
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    miRNA
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    miRTarBase miRNAs that target DHDDS:
    hsa-mir-92b-3p (MIRT040664), hsa-mir-215-5p (MIRT024814), hsa-mir-92a-3p (MIRT048952), hsa-mir-192-5p (MIRT026796), hsa-mir-93-3p (MIRT038779), hsa-mir-29b-3p (MIRT048374)

    Block miRNA regulation of human, mouse, rat DHDDS using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate DHDDS (see all 65):
    hsa-miR-100* hsa-miR-4254 hsa-miR-3194-5p hsa-miR-15a hsa-miR-605 hsa-miR-10b* hsa-miR-3622b-3p hsa-miR-3150b-3p
    SwitchGear 3'UTR luciferase reporter plasmidDHDDS 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat DHDDS

    Gene Editing
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    GenScript: all cDNA clones in your preferred vector (see all 2): DHDDS (NM_024887)
    Sino Biological Human cDNA Clone for DHDDS
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DHDDS

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


    (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
    DHDDS_HUMAN, Q86SQ9: Endoplasmic reticulum membrane; Peripheral membrane protein. Note=colocalizes with calnexin
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endoplasmic reticulum5
    cytosol2
    nucleus2
    plasma membrane2
    mitochondrion1

    Gene Ontology (GO): 1 cellular component term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005789endoplasmic reticulum membrane TAS--

    Find genes that share ontologies with DHDDS           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 DHDDS About    
    See pathways by source

    SuperPathContained pathways About
    1Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein
    Asparagine N-linked glycosylation0.49
    Synthesis of Dolichyl-phosphate0.00
    Post-translational protein modification0.43
    dolichol and dolichyl phosphate biosynthesis0.00
    Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein0.38
    Synthesis of substrates in N-glycan biosythesis0.00
    Metabolism of proteins0.30
    2superpathway of cholesterol biosynthesis
    Terpenoid backbone biosynthesis0.34


    Find genes that share SuperPaths with DHDDS           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    3 Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for DHDDS
        RhoA Pathway
    Rho Family GTPases
    Sperm Motility

    1 BioSystems Pathway for DHDDS
        dolichol and dolichyl phosphate biosynthesis


    1 Reactome Pathway for DHDDS
        Synthesis of Dolichyl-phosphate


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

    UniProtKB/Swiss-Prot: DHDDS_HUMAN, Q86SQ9
    Pathway: Protein modification; protein glycosylation

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

        GeneGlobe Interaction Network for DHDDS

    STRING Interaction Network Preview (showing 5 interactants - click image to see 15)

    Selected Interacting proteins for DHDDS (Q86SQ93 ENSP000003531044) via UniProtKB, MINT, STRING, and/or I2D (see all 44)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    AGPAT1Q999433I2D: score=4 
    ENSG00000206324Q999433I2D: score=4 
    ENSG00000226467Q999433I2D: score=4 
    ENSG00000227642Q999433I2D: score=4 
    ENSG00000228892Q999433I2D: score=4 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006486protein glycosylation ----
    GO:0006488dolichol-linked oligosaccharide biosynthetic process TAS--
    GO:0006489dolichyl diphosphate biosynthetic process TAS--
    GO:0018279protein N-linked glycosylation via asparagine TAS--
    GO:0043687post-translational protein modification TAS--

    Find genes that share ontologies with DHDDS           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 DHDDS

    1 HMDB Compound for DHDDS    About this table
    CompoundSynonyms CAS #PubMed Ids
    Undecaprenyl diphosphateDiphosphoric acid mono(3,7,11,15,19,23,27,31,35,39,43-undecamethyl-2,6,10,14,18,22,26,30,34,38,42-tetratetracontaundecaenyl) ester (see all 8)23-13-2--



    (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 DHDDS gene (4 alternative transcripts): 
    NM_001243564.1  NM_001243565.1  NM_024887.3  NM_205861.2  

    Unigene Cluster for DHDDS:

    Dehydrodolichyl diphosphate synthase
    Hs.369385  [show with all ESTs]
    Unigene Representative Sequence: BX648507
    Selected Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 25):
    ENST00000434391(uc001bmk.3 uc001bml.3 uc001bmn.3 uc010ofd.2 uc001bmm.3)
    ENST00000427245 ENST00000527611 ENST00000374186 ENST00000525682 ENST00000236342
    ENST00000526219 ENST00000374185 ENST00000487944 ENST00000360009 ENST00000533087
    ENST00000531312 ENST00000525165 ENST00000525326 ENST00000525546 ENST00000528557
    ENST00000526278 ENST00000436153
    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate DHDDS (see all 65):
    hsa-miR-100* hsa-miR-4254 hsa-miR-3194-5p hsa-miR-15a hsa-miR-605 hsa-miR-10b* hsa-miR-3622b-3p hsa-miR-3150b-3p
    SwitchGear 3'UTR luciferase reporter plasmidDHDDS 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat DHDDS
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      QuantiFast Probe-based Assays in human, mouse, rat DHDDS

    Additional mRNA sequence: 

    AB090852.1 AK023164.1 AK297134.1 AK308187.1 AK316485.1 BC003643.2 BC004117.2 BC034152.1 
    BX648507.1 GU727641.1 

    14 DOTS entries:

    DT.99948354  DT.91758707  DT.97764546  DT.440354  DT.91758706  DT.95069950  DT.100710474  DT.97826366 
    DT.91758705  DT.97793209  DT.121445892  DT.121445909  DT.40264123  DT.40305720 

    Selected AceView cDNA sequences (see all 181):

    BF437274 BQ184436 BQ438280 AL701938 BF062692 AI694618 BQ641323 BC004117 
    CK822374 AA586951 BM693963 BM352399 NM_205861 BC003643 CA447703 BF684863 
    AA809336 BQ189030 AW630743 CD366547 NM_024887 BE550189 AI810984 BG261190 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for DHDDS (see all 11)    About this scheme

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


    ECgene alternative splicing isoforms for DHDDS

    (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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    DHDDS expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CTCCCAGAAT
    DHDDS Expression
    About this image


    DHDDS expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 5) fully expand
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
     
     Ovary (Reproductive System)
             Oviduct
     
     Liver (Hepatobiliary System)
             Hepatocytes Liver Lobule
     
     Adipose (Muscoskeletal System)
    DHDDS Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    DHDDS Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.369385

    UniProtKB/Swiss-Prot: DHDDS_HUMAN, Q86SQ9
    Tissue specificity: Expressed at high levels in testis and kidney. Expressed in epididymis (at protein level).
    Slightly expressed in heart, spleen and thymus

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    QuantiFast Probe-based Assays in human, mouse, rat DHDDS
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DHDDS

    (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 DHDDS gene from Selected species (see all 25)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Dhdds1 , 5 dehydrodolichyl diphosphate synthase1, 5 88.19(n)1
    92.49(a)1
      4 (66.47 cM)5
    674221  NM_026144.41  NP_080420.21 
     1339690285 
    chicken
    (Gallus gallus)
    Aves DHDDS1 dehydrodolichyl diphosphate synthase 75.98(n)
    81.68(a)
      419543  XM_417694.3  XP_417694.2 
    lizard
    (Anolis carolinensis)
    Reptilia DHDDS6
    dehydrodolichyl diphosphate synthase
    75(a)
    1 ↔ 1
    GL343480.1(629321-637004)
    African clawed frog
    (Xenopus laevis)
    Amphibia LOC3986262 hypothetical protein LOC398626 75.02(n)    BC054312.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufd56c062 Transcribed sequence with moderate similarity to protein more 75.85(n)    CD758453.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG107781 CG10778 56.78(n)
    53.23(a)
      31708  NM_132197.3  NP_572425.1 
    worm
    (Caenorhabditis elegans)
    Secernentea T01G1.41 T01G1.4 50.79(n)
    44.09(a)
      266904  NM_001028180.4  NP_001023351.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes RER2(YBR002C)4
    RER21
    Cis-prenyltransferase involved in dolichol synthesis; more4
    RER21
    48.34(n)1
    44.16(a)1
      2(242568-241708)4
    8522871, 4  NP_009556.11, 4 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT2G175701 AT2G17570 47(n)
    41(a)
      816264  NM_127311.4  NP_565420.1 
    rice
    (Oryza sativa)
    Liliopsida Os.74782 Oryza sativa (japonica cultivar-group) cDNA cloneJ more 80.17(n)    AK069186.1 


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

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

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    (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)
    About This Section

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    Selected SNPs for DHDDS (see all 762)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0653564
    Retinitis pigmentosa 59 (RP59)4--see VAR_0653562 K E mis40--------
    rs172619151,2
    C,F,H--25011202(+) AATCCT/CCAAGC 4 -- us2k121Minor allele frequency- C:0.14NA EA NS 2432
    rs1917886841,2
    --25011226(+) AGTAAA/GGGTAA 4 -- us2k10--------
    rs1839335941,2
    --25011632(+) ACATAA/CTACTA 4 -- us2k10--------
    rs1503787261,2
    --25011733(+) GCAGGC/TAGATA 4 -- us2k10--------
    rs1382299071,2
    C--25011740(+) GATAAC/TGAGGT 4 -- us2k10--------
    rs94385471,2
    C,F--25011833(+) GCGCCC/TGTAGT 4 -- us2k15Minor allele frequency- T:0.33NA WA CSA 9
    rs94385481,2
    C,F,H--25011894(+) GGAGGT/CTGCAG 4 -- us2k16Minor allele frequency- C:0.17NA WA 12
    rs758254511,2
    C,F--25012022(+) ATTTTT/CTCCTC 4 -- us2k12Minor allele frequency- C:0.08WA 120
    rs1390164181,2
    C--25012359(+) ACAGGC/TGCCCG 4 -- us2k10--------

    HapMap Linkage Disequilibrium report for DHDDS (26758773 - 26797797 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for DHDDS:    About this table    
    Variant IDTypeSubtypePubMed ID
    dgv202n71CNV Loss21882294

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

    (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

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    OMIM gene information: 608172   
    OMIM disorders: 613861  
    UniProtKB/Swiss-Prot: DHDDS_HUMAN, Q86SQ9
  • Retinitis pigmentosa 59 (RP59) [MIM:613861]: A retinal dystrophy belonging to the group of pigmentary
    retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination
    and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically
    have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose
    their far peripheral visual field and eventually central vision as well. Note=The disease is caused by mutations
    affecting the gene represented in this entry

  • 3 diseases for DHDDS:    
    About MalaCards
    dhdds-related retinitis pigmentosa    retinitis pigmentosa    leber congenital amaurosis


    Find genes that share disorders with DHDDS           About GenesLikeMe

    Genetic Association Database (GAD): DHDDS
    Human Genome Epidemiology (HuGE) Navigator: DHDDS (1 document)

    Export disorders for DHDDS 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 DHDDS gene, integrated from 10 sources (see all 19):
    (articles sorted by number of sources associating them with DHDDS)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification of human dehydrodolichyl diphosphate synthase gene. (PubMed id 12591616)1, 2, 3 Endo S.... Koyama T. (Biochim. Biophys. Acta 2003)
    2. Whole-exome sequencing links a variant in DHDDS to retinitis pigmentosa. (PubMed id 21295283)1, 2 Zuchner S.... Pericak-Vance M.A. (Am. J. Hum. Genet. 2011)
    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. Systematic mapping and functional analysis of a family of human epididymal secretory sperm-located proteins. (PubMed id 20736409)1, 2 Li J.... Liu Y. (Mol. Cell. Proteomics 2010)
    5. 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)
    6. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    7. Identification and characterization of a cDNA encoding a long-chain cis-isoprenyltransferase involved in dolichyl monophosphate biosynthesis in the ER of brain cells. (PubMed id 14652022)1, 2 Shridas P.... Waechter C.J. (Biochem. Biophys. Res. Commun. 2003)
    8. In vivo interaction between the human dehydrodolichyl diphosphate synthase and the Niemann-Pick C2 protein revealed by a yeast two- hybrid system. (PubMed id 15110773)1, 9 Kharel Y.... Koyama T. (Biochem. Biophys. Res. Commun. 2004)
    9. Pathway Analysis of ChIP-Seq-Based NRF1 Target Genes Suggests a Logical Hypothesis of their Involvement in the Pathogenesis of Neurodegenerative Diseases. (PubMed id 24250222)1 Satoh J....Yamamoto Y. (Gene Regul Syst Bio 2013)
    10. Methods for quantification of in vivo changes in protein ubiquitination following proteasome and deubiquitinase inhibition. (PubMed id 22505724)1 Udeshi N.D....Carr S.A. (amp 2012)

    (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: 79947 HGNC: 20603 AceView: DHDDS Ensembl:ENSG00000117682 euGenes: HUgn79947
    ECgene: DHDDS Kegg: 79947 H-InvDB: DHDDS

    (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)
    About This Section

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    NameDescription
    PharmGKB entry for DHDDS Pharmacogenomics, SNPs, Pathways

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

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    Patent Information for DHDDS gene:
    Search GeneIP for patents involving DHDDS

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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