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    Dhdds dehydrodolichyl diphosphate synthase [ Mus musculus (house mouse) ]

    Gene ID: 67422, updated on 8-May-2024

    Summary

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    Official Symbol
    Dhddsprovided by MGI
    Official Full Name
    dehydrodolichyl diphosphate synthaseprovided by MGI
    Primary source
    MGI:MGI:1914672
    See related
    Ensembl:ENSMUSG00000012117 AllianceGenome:MGI:1914672
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    DS; CIT; HDS; cis-IPTase; 3222401G21Rik
    Summary
    Predicted to enable dehydrodolichyl diphosphate synthase activity and polyprenyltransferase activity. Predicted to be involved in dolichyl diphosphate biosynthetic process and polyprenol biosynthetic process. Predicted to act upstream of or within lipid metabolic process. Predicted to be located in membrane. Predicted to be part of dehydrodolichyl diphosphate synthase complex. Predicted to be active in endoplasmic reticulum. Used to study retinitis pigmentosa 59. Human ortholog(s) of this gene implicated in developmental delay and seizures with or without movement abnormalities and retinitis pigmentosa 59. Orthologous to human DHDDS (dehydrodolichyl diphosphate synthase subunit). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in cerebellum adult (RPKM 17.5), cortex adult (RPKM 14.9) and 28 other tissues See more
    Orthologs
    human all
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    Genomic context

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    Location:
    4 D2.3; 4 66.47 cM
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 4 NC_000070.7 (133696339..133728267, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 4 NC_000070.6 (133969028..134000957, complement)

    Chromosome 4 - NC_000070.7Genomic Context describing neighboring genes Neighboring gene ribosomal protein S6 kinase polypeptide 1 Neighboring gene predicted gene, 22523 Neighboring gene STARR-seq mESC enhancer starr_11658 Neighboring gene STARR-seq mESC enhancer starr_11662 Neighboring gene STARR-positive B cell enhancer ABC_E6230 Neighboring gene high mobility group nucleosomal binding domain 2 Neighboring gene STARR-positive B cell enhancer ABC_E9085 Neighboring gene STARR-seq mESC enhancer starr_11665 Neighboring gene lin-28 homolog A Neighboring gene zinc finger protein 683

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    Related articles in PubMed

    1. Lack of Overt Retinal Degeneration in a K42E Dhdds Knock-In Mouse Model of RP59. Ramachandra Rao S, et al. Cells, 2020 Apr 7. PMID 32272552, Free PMC Article
    2. Retinal Degeneration Caused by Rod-Specific Dhdds Ablation Occurs without Concomitant Inhibition of Protein N-Glycosylation. Ramachandra Rao S, et al. iScience, 2020 Jun 26. PMID 32526701, Free PMC Article
    3. Selective Ablation of Dehydrodolichyl Diphosphate Synthase in Murine Retinal Pigment Epithelium (RPE) Causes RPE Atrophy and Retinal Degeneration. DeRamus ML, et al. Cells, 2020 Mar 21. PMID 32245241, Free PMC Article
    4. Lack of periostin leads to suppression of Notch1 signaling and calcific aortic valve disease. Tkatchenko TV, et al. Physiol Genomics, 2009 Nov 6. PMID 19723774, Free PMC Article
    5. Construction of long-transcript enriched cDNA libraries from submicrogram amounts of total RNAs by a universal PCR amplification method. Piao Y, et al. Genome Res, 2001 Sep. PMID 11544199, Free PMC Article

    See all (23) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Lack of Overt Retinal Degeneration in a K42E Dhdds Knock-In Mouse Model of RP59.
      Title: Lack of Overt Retinal Degeneration in a K42E Dhdds Knock-In Mouse Model of RP59.
    2. Selective Ablation of Dehydrodolichyl Diphosphate Synthase in Murine Retinal Pigment Epithelium (RPE) Causes RPE Atrophy and Retinal Degeneration.
      Title: Selective Ablation of Dehydrodolichyl Diphosphate Synthase in Murine Retinal Pigment Epithelium (RPE) Causes RPE Atrophy and Retinal Degeneration.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    contributes_to dehydrodolichyl diphosphate synthase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    contributes_to dehydrodolichyl diphosphate synthase activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    contributes_to polyprenyltransferase activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables transferase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables transferase activity, transferring alkyl or aryl (other than methyl) groups IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in dolichyl diphosphate biosynthetic process ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within lipid metabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in polyprenol biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    part_of dehydrodolichyl diphosphate synthase complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of dehydrodolichyl diphosphate synthase complex ISO
    Inferred from Sequence Orthology
    more info
    		  
    is_active_in endoplasmic reticulum IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    dehydrodolichyl diphosphate synthase complex subunit Dhdds
    Names
    cis-isoprenyltransferase
    dedol-PP synthase
    NP_001349888.1
    NP_001349889.1
    NP_001349890.1
    NP_001349891.1
    NP_080420.2
    XP_030109583.1
    XP_030109584.1

    NCBI Reference Sequences (RefSeq)

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    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.

    mRNA and Protein(s)

    1. NM_001362959.1 → NP_001349888.1  dehydrodolichyl diphosphate synthase complex subunit Dhdds isoform 1

      Status: VALIDATED

      Source sequence(s)
      AA286577, AK017556, AK135087, AK149138
      Consensus CDS
      CCDS18760.1
      UniProtKB/Swiss-Prot
      A3KGL4, Q3UF13, Q8BZ16, Q8BZK8, Q99KU1
      UniProtKB/TrEMBL
      A3KGL0
      Related
      ENSMUSP00000116098.2, ENSMUST00000144668.8
      Conserved Domains (1) summary
      cd00475
      Location:28 → 249
      Cis_IPPS; Cis (Z)-Isoprenyl Diphosphate Synthases

    2. NM_001362960.1 → NP_001349889.1  dehydrodolichyl diphosphate synthase complex subunit Dhdds isoform 2

      Status: VALIDATED

      Source sequence(s)
      AA286577, AK017556, AK034277, AK049991
      Consensus CDS
      CCDS89839.1
      UniProtKB/TrEMBL
      A3KGL0
      Related
      ENSMUSP00000101511.2, ENSMUST00000105887.8
      Conserved Domains (1) summary
      cd00475
      Location:28 → 249
      Cis_IPPS; Cis (Z)-Isoprenyl Diphosphate Synthases

    3. NM_001362961.1 → NP_001349890.1  dehydrodolichyl diphosphate synthase complex subunit Dhdds isoform 3

      Status: VALIDATED

      Source sequence(s)
      AA286577, AK014317, AK017556
      Related
      ENSMUST00000146241.8
      Conserved Domains (1) summary
      cd00475
      Location:2 → 145
      Cis_IPPS; Cis (Z)-Isoprenyl Diphosphate Synthases

    4. NM_001362962.1 → NP_001349891.1  dehydrodolichyl diphosphate synthase complex subunit Dhdds isoform 1

      Status: VALIDATED

      Source sequence(s)
      AL670680, AL837508
      Consensus CDS
      CCDS18760.1
      UniProtKB/Swiss-Prot
      A3KGL4, Q3UF13, Q8BZ16, Q8BZK8, Q99KU1
      UniProtKB/TrEMBL
      A3KGL0
      Related
      ENSMUSP00000101509.2, ENSMUST00000105885.8
      Conserved Domains (1) summary
      cd00475
      Location:28 → 249
      Cis_IPPS; Cis (Z)-Isoprenyl Diphosphate Synthases

    5. NM_026144.5 → NP_080420.2  dehydrodolichyl diphosphate synthase complex subunit Dhdds isoform 1

      See identical proteins and their annotated locations for NP_080420.2

      Status: VALIDATED

      Source sequence(s)
      AL670680, AL837508
      Consensus CDS
      CCDS18760.1
      UniProtKB/Swiss-Prot
      A3KGL4, Q3UF13, Q8BZ16, Q8BZK8, Q99KU1
      UniProtKB/TrEMBL
      A3KGL0
      Related
      ENSMUSP00000012262.6, ENSMUST00000012262.12
      Conserved Domains (1) summary
      cd00475
      Location:28 → 249
      Cis_IPPS; Cis (Z)-Isoprenyl Diphosphate Synthases

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000070.7 Reference GRCm39 C57BL/6J

      Range
      133696339..133728267 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_030253723.2 → XP_030109583.1  dehydrodolichyl diphosphate synthase complex subunit Dhdds isoform X1

      UniProtKB/TrEMBL
      A3KGL0
      Conserved Domains (1) summary
      cd00475
      Location:28 → 249
      Cis_IPPS; Cis (Z)-Isoprenyl Diphosphate Synthases

    2. XM_030253724.2 → XP_030109584.1  dehydrodolichyl diphosphate synthase complex subunit Dhdds isoform X1

      UniProtKB/TrEMBL
      A3KGL0
      Conserved Domains (1) summary
      cd00475
      Location:28 → 249
      Cis_IPPS; Cis (Z)-Isoprenyl Diphosphate Synthases
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q99KU1.1 GenPept UniProtKB/Swiss-Prot:Q99KU1

    Gene LinkOut

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