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

Gene ID: 67422, updated on 27-Nov-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 metal ion binding activity. Predicted to contribute to dehydrodolichyl diphosphate synthase activity and polyprenyltransferase activity. Predicted to be involved in dolichyl diphosphate biosynthetic process and polyprenol biosynthetic process. Predicted to be located in endoplasmic reticulum 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, Nov 2024]
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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See Dhdds in Genome Data Viewer
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. A Dhdds K42E knock-in RP59 mouse model shows inner retina pathology and defective synaptic transmission. Nguyen MN, et al. Cell Death Dis, 2023 Jul 13. PMID 37443173, Free PMC Article
  2. 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
  3. 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
  4. 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
  5. 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

See all (25) 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
  
contributes_to dehydrodolichyl diphosphate synthase activity ISS
Inferred from Sequence or Structural Similarity
more info
  
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
  
contributes_to polyprenyltransferase activity ISO
Inferred from Sequence Orthology
more info
  
Process Evidence Code Pubs
involved_in dolichyl diphosphate biosynthetic process ISO
Inferred from Sequence Orthology
more info
  
involved_in dolichyl diphosphate biosynthetic process ISS
Inferred from Sequence or Structural Similarity
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
  
part_of dehydrodolichyl diphosphate synthase complex ISS
Inferred from Sequence or Structural Similarity
more info
  
is_active_in endoplasmic reticulum IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in endoplasmic reticulum 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

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