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    DHDDS dehydrodolichyl diphosphate synthase [ Homo sapiens ]

    Gene ID: 79947, updated on 4-Feb-2012
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    Summary

    Official Symbol
    DHDDSprovided by HGNC
    Official Full Name
    dehydrodolichyl diphosphate synthaseprovided by HGNC
    Primary source
    HGNC:20603
    Locus tag
    RP3-476K8.2
    See related
    Ensembl:ENSG00000117682; HPRD:12183; MIM:608172; Vega:OTTHUMG00000003554
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    DS; CIT; CPT; HDS; RP59
    Summary
    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]
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    Genomic context

    Location :
    1p36.11
    Sequence :
    Chromosome: 1; NC_000001.10 (26758802..26797797)
    See DHDDS in Epigenomics, MapViewer

    Chromosome 1 - NC_000001.10Genomic Context describing neighboring genes Neighboring gene zinc finger protein 683 Neighboring gene lin-28 homolog A (C. elegans) Neighboring gene ribosomal protein L17 pseudogene 9 Neighboring gene high mobility group nucleosomal binding domain 2 Neighboring gene developmental pluripotency associated 2 pseudogene

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    Genomic regions, transcripts, and products

    Go to nucleotideGraphics FASTA GenBank

    Go to reference sequence details
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    Bibliography

    Related articles in PubMed

    1. Whole-exome sequencing links a variant in DHDDS to retinitis pigmentosa. Züchner S, et al. Am J Hum Genet, 2011 Feb 11. PMID 21295283.
    2. A missense mutation in DHDDS, encoding dehydrodolichyl diphosphate synthase, is associated with autosomal-recessive retinitis pigmentosa in Ashkenazi Jews. Zelinger L, et al. Am J Hum Genet, 2011 Feb 11. PMID 21295282.
    3. Systematic mapping and functional analysis of a family of human epididymal secretory sperm-located proteins. Li J, et al. Mol Cell Proteomics, 2010 Nov. PMID 20736409.
    4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. Rose JE, et al. Mol Med, 2010 Jul-Aug. PMID 20379614.
    5. Polyprenyl lipid synthesis in mammalian cells expressing human cis-prenyl transferase. Jones J, et al. Biochem Biophys Res Commun, 2005 Jun 3. PMID 15850770.

    See all (11) citations in PubMed

    See citations in PubMed for homologs of this gene provided by HomoloGene

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    1. A variant in DHDDS is associated with retinitis pigmentosa.
      Title: Whole-exome sequencing links a variant in DHDDS to retinitis pigmentosa.
    2. A missense mutation in DHDDS is associated with autosomal-recessive retinitis pigmentosa.
      Title: A missense mutation in DHDDS, encoding dehydrodolichyl diphosphate synthase, is associated with autosomal-recessive retinitis pigmentosa in Ashkenazi Jews.
    3. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    4. molecular cloning; results suggest a regulatory relationship between CPT activity and dolichol biosynthesis, and may implicate CPT in the levels of dolichol-oligosaccharide intermediate biosynthesis
      Title: Polyprenyl lipid synthesis in mammalian cells expressing human cis-prenyl transferase.
    5. identification and amino acid sequence expressed in yeast
      Title: Identification of human dehydrodolichyl diphosphate synthase gene.
    6. identification and characterization; overexpression of CIT in CHO cells results in a modest increase in cis-isoprenyltransferase activity associated with microsomal fractions
      Title: Identification and characterization of a cDNA encoding a long-chain cis-isoprenyltranferase involved in dolichyl monophosphate biosynthesis in the ER of brain cells.
    Submit: New GeneRIF Correction
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    Phenotypes

    Review eQTL and phenotype association data in this region using PheGenI

    Retinitis pigmentosa 59

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    Interactions

    Products Interactant Other Gene Complex Source Pubs Description
    Q86SQ9 P28300 LOX    HPRD  PubMed  
    Q86SQ9 P03886 ND1    HPRD  PubMed  
    Q86SQ9 P61916 NPC2    HPRD  PubMed  
    NP_002308.2 LOX    BIND  PubMed HDS interacts with LO. 
    BioGRID:123018 BioGRID:110199 LOX    BioGRID  PubMed Two-hybrid 
    BioGRID:123018 BioGRID:110631 ND1    BioGRID  PubMed Two-hybrid 
    NP_006423.1 NPC2    BIND  PubMed HDS interacts with NPC2. 
    BioGRID:123018 BioGRID:115828 NPC2    BioGRID  PubMed Reconstituted Complex; Two-hybrid 
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    General gene information

    Markers

    Genotypes

    Homology

    • Homologs of the DHDDS gene: The DHDDS gene is conserved in chimpanzee, dog, cow, mouse, rat, chicken, zebrafish, fruit fly, mosquito, C.elegans, S.pombe, S.cerevisiae, K.lactis, E.gossypii, M.grisea, N.crassa, A.thaliana, and rice.
    • Map Viewer (Mouse, Rat)

    Pathways from BioSystems

    Clone Names

    • FLJ13102

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    transferase activity, transferring alkyl or aryl (other than methyl) groups IEA
    Inferred from Electronic Annotation
    more info
    		  
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    General protein information

    Preferred Names
    dehydrodolichyl diphosphate synthase
    Names
    dehydrodolichyl diphosphate synthase
    dedol-PP synthase
    cis-prenyl transferase
    cis-isoprenyltransferase
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    NCBI Reference Sequences (RefSeq)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_029786.1 RefSeqGene

      Range
      5001..44025
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001243564.1 → NP_001230493.1  dehydrodolichyl diphosphate synthase isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks an in-frame coding exon compared to variant 1. This results in a shorter isoform (3) missing an internal protein segment compared to isoform 1.
      Source sequence(s)
      AK023164, AK297134, AK316485, AW294595, BX648507
      UniProtKB/TrEMBL
      B7Z4B9
      UniProtKB/TrEMBL
      B7ZB20
      UniProtKB/Swiss-Prot
      Q86SQ9
      Conserved Domains (2) summary
      pfam01255
      Location:32 – 214
      Blast Score: 593
      Prenyltransf; Putative undecaprenyl diphosphate synthase
      cl00230
      Location:26 – 215
      Blast Score: 615
      CIS_IPPS; Cis (Z)-Isoprenyl Diphosphate Synthases (cis-IPPS); homodimers which catalyze the successive 1'-4 condensation of the isopentenyl diphosphate (IPP) molecule to trans,trans-farnesyl diphosphate (FPP) or to cis,trans-FPP to form long-chain polyprenyl ...

    2. NM_001243565.1 → NP_001230494.1  dehydrodolichyl diphosphate synthase isoform 4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) lacks an in-frame coding exon compared to variant 1. This results in a shorter isoform (4) missing an internal protein segment compared to isoform 1.
      Source sequence(s)
      AK023164, AW294595, BC004117, BX648507
      UniProtKB/Swiss-Prot
      Q86SQ9
      Conserved Domains (2) summary
      pfam01255
      Location:32 – 209
      Blast Score: 664
      Prenyltransf; Putative undecaprenyl diphosphate synthase
      cl00230
      Location:26 – 210
      Blast Score: 688
      CIS_IPPS; Cis (Z)-Isoprenyl Diphosphate Synthases (cis-IPPS); homodimers which catalyze the successive 1'-4 condensation of the isopentenyl diphosphate (IPP) molecule to trans,trans-farnesyl diphosphate (FPP) or to cis,trans-FPP to form long-chain polyprenyl ...

    3. NM_024887.3 → NP_079163.2  dehydrodolichyl diphosphate synthase isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame acceptor splice site at the 3' terminal exon compared to variant 1. This results in an isoform (2), which is 1 aa longer than isoform 1.
      Source sequence(s)
      AK023164, AW294595, BX648507
      Consensus CDS
      CCDS281.1
      UniProtKB/Swiss-Prot
      Q86SQ9
      Related
      ENSP00000353104, OTTHUMP00000003664, ENST00000360009, OTTHUMT00000009895
      Conserved Domains (2) summary
      cd00475
      Location:26 – 249
      Blast Score: 785
      CIS_IPPS; Cis (Z)-Isoprenyl Diphosphate Synthases (cis-IPPS); homodimers which catalyze the successive 1'-4 condensation of the isopentenyl diphosphate (IPP) molecule to trans,trans-farnesyl diphosphate (FPP) or to cis,trans-FPP to form long-chain polyprenyl ...
      pfam01255
      Location:32 – 248
      Blast Score: 759
      Prenyltransf; Putative undecaprenyl diphosphate synthase

    4. NM_205861.2 → NP_995583.1  dehydrodolichyl diphosphate synthase isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the predominant transcript, and encodes isoform 1.
      Source sequence(s)
      AB090852, AK023164, AW294595, BC003643, BX648507
      Consensus CDS
      CCDS282.1
      UniProtKB/Swiss-Prot
      Q86SQ9
      Related
      ENSP00000236342, OTTHUMP00000234798, ENST00000236342, OTTHUMT00000392504
      Conserved Domains (2) summary
      cd00475
      Location:26 – 249
      Blast Score: 785
      CIS_IPPS; Cis (Z)-Isoprenyl Diphosphate Synthases (cis-IPPS); homodimers which catalyze the successive 1'-4 condensation of the isopentenyl diphosphate (IPP) molecule to trans,trans-farnesyl diphosphate (FPP) or to cis,trans-FPP to form long-chain polyprenyl ...
      pfam01255
      Location:32 – 248
      Blast Score: 758
      Prenyltransf; Putative undecaprenyl diphosphate synthase

    RefSeqs of Annotated Genomes: Build 37.3

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh37.p5 Primary Assembly

    Genomic

    1. NC_000001.10 Reference GRCh37.p5 Primary Assembly

      Range
      26758802..26797797
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000133.1 Alternate HuRef

      Range
      25013144..25052137
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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    Related Sequences

    Nucleotide Protein
    Heading Accession and Version
    genomic AL513365.27 CAI21491.1
      CAI21492.1
      CAI21493.1
      CAI21494.1
      CAI21495.1
      CAI21496.1
      CAI21497.1
      CAI21498.1
      CAI21499.1
    genomic CH471059.2 EAX07806.1
      EAX07807.1
      EAX07808.1
      EAX07809.1
      EAX07810.1
      EAX07811.1
      EAX07812.1
    genomic FB335092.1 CAR80515.1
    genomic FB335138.1 CAR80538.1
    genomic HH766431.1 CBX83986.1
    genomic HH766477.1 CBX84009.1
    mRNA AB090852.1 BAC57588.1
    mRNA AK023164.1 BAB14439.1
    mRNA AK297134.1 BAH12505.1
    mRNA AK308187.1 None
    mRNA AK316485.1 BAH14856.1
    mRNA AW294595.1 None
    mRNA BC003643.2 AAH03643.1
    mRNA BC004117.2 AAH04117.1
    mRNA BC034152.1 AAH34152.1
    mRNA BQ028814.1 None
    mRNA BX648507.1 None
    mRNA GU727641.1 ADU87642.1
    other-genetic JF432680.1 ADZ15897.1
    Protein Accession Links
    GenePept Link UniProtKB Link
    Q5T0A0 GenPept UniProtKB/TrEMBL:Q5T0A0
    Q5T0A2 GenPept UniProtKB/TrEMBL:Q5T0A2
    Q5T0A3 GenPept UniProtKB/TrEMBL:Q5T0A3
    Q5T0A7 GenPept UniProtKB/TrEMBL:Q5T0A7
    Q86SQ9.3 GenPept UniProtKB/Swiss-Prot:Q86SQ9
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    Additional Links

    Additional Links

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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