Format

Send to:

Choose Destination
    • Showing Current items.

    DHDDS dehydrodolichyl diphosphate synthase subunit [ Homo sapiens (human) ]

    Gene ID: 79947, updated on 8-Jul-2021

    Summary

    Official Symbol
    DHDDSprovided by HGNC
    Official Full Name
    dehydrodolichyl diphosphate synthase subunitprovided by HGNC
    Primary source
    HGNC:HGNC:20603
    See related
    Ensembl:ENSG00000117682 MIM:608172
    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; hCIT; DEDSM
    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]
    Expression
    Ubiquitous expression in fat (RPKM 22.0), colon (RPKM 11.7) and 24 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See DHDDS in Genome Data Viewer
    Location:
    1p36.11
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (26432321..26471306)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (26758812..26797797)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene CRISPRi-validated cis-regulatory element chr1.3775 Neighboring gene lin-28 homolog A Neighboring gene ribosomal protein L17 pseudogene 9 Neighboring gene DHDDS antisense RNA 1 Neighboring gene high mobility group nucleosomal binding domain 2 Neighboring gene CRISPRi-validated cis-regulatory element chr1.3789

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • FLJ13102

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables dehydrodolichyl diphosphate synthase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables dehydrodolichyl diphosphate synthase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    contributes_to polyprenyltransferase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in dolichyl diphosphate biosynthetic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in polyprenol biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    Component Evidence Code Pubs
    part_of dehydrodolichyl diphosphate synthase complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    part_of dehydrodolichyl diphosphate synthase complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in endoplasmic reticulum IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in endoplasmic reticulum membrane TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    dehydrodolichyl diphosphate synthase complex subunit DHDDS
    Names
    cis-IPTase
    cis-isoprenyltransferase
    cis-prenyl transferase
    cis-prenyltransferase subunit hCIT
    dedol-PP synthase
    dehydrodolichyl diphosphate syntase complex subunit DHDDS
    epididymis tissue protein Li 189m
    NP_001230493.1
    NP_001230494.1
    NP_001306888.1
    NP_079163.2
    NP_995583.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001243564.2NP_001230493.1  dehydrodolichyl diphosphate synthase complex subunit DHDDS isoform 3

      See identical proteins and their annotated locations for NP_001230493.1

      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
      Consensus CDS
      CCDS57983.1
      UniProtKB/Swiss-Prot
      Q86SQ9
      Related
      ENSP00000434984.1, ENST00000525682.6
      Conserved Domains (1) summary
      cd00475
      Location:28214
      Cis_IPPS; Cis (Z)-Isoprenyl Diphosphate Synthases
    2. NM_001243565.2NP_001230494.1  dehydrodolichyl diphosphate synthase complex subunit DHDDS isoform 4

      See identical proteins and their annotated locations for NP_001230494.1

      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
      Consensus CDS
      CCDS57984.1
      UniProtKB/Swiss-Prot
      Q86SQ9
      Related
      ENSP00000434219.1, ENST00000526219.5
      Conserved Domains (1) summary
      cd00475
      Location:28209
      Cis_IPPS; Cis (Z)-Isoprenyl Diphosphate Synthases
    3. NM_001319959.2NP_001306888.1  dehydrodolichyl diphosphate synthase complex subunit DHDDS isoform 5

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) uses an alternate splice junction compared to variant 1. The resulting isoform (5) is shorter at the N-terminus compared to isoform 1.
      Source sequence(s)
      AL513365, AW294595, BX648507, DA756178
      Conserved Domains (1) summary
      cd00475
      Location:1155
      Cis_IPPS; Cis (Z)-Isoprenyl Diphosphate Synthases
    4. NM_024887.4NP_079163.2  dehydrodolichyl diphosphate synthase complex subunit DHDDS isoform 2

      See identical proteins and their annotated locations for NP_079163.2

      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
      ENSP00000353104.2, ENST00000360009.6
      Conserved Domains (1) summary
      cd00475
      Location:28248
      Cis_IPPS; Cis (Z)-Isoprenyl Diphosphate Synthases
    5. NM_205861.3NP_995583.1  dehydrodolichyl diphosphate synthase complex subunit DHDDS isoform 1

      See identical proteins and their annotated locations for NP_995583.1

      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
      ENSP00000236342.7, ENST00000236342.12
      Conserved Domains (1) summary
      cd00475
      Location:28248
      Cis_IPPS; Cis (Z)-Isoprenyl Diphosphate Synthases

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

      Range
      26432321..26471306
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Support Center