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Dhdds Gene Detail
Summary
  • Symbol
    Dhdds
  • Name
    dehydrodolichyl diphosphate synthase
  • Synonyms
    3222401G21Rik
  • Feature Type
    protein coding gene
  • IDs
    MGI:1914672
    NCBI Gene: 67422
  • Alliance
    gene page
  • Transcription Start Sites
    4 TSS
Location &
Maps
more
  • Sequence Map
    Chr4:133696339-133728229 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 4, 66.47 cM
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    303 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1914672
 protein coding gene Chr4:133696339-133728267 (-)
129S1/SvImJ MGP_129S1SvImJ_G0028907
 protein coding gene Chr4:136281091-136314869 (-)
A/J MGP_AJ_G0028866
 protein coding gene Chr4:130549898-130581241 (-)
AKR/J MGP_AKRJ_G0028818
 protein coding gene Chr4:134286103-134324714 (-)
BALB/cJ MGP_BALBcJ_G0028889
 protein coding gene Chr4:131194057-131230243 (-)
C3H/HeJ MGP_C3HHeJ_G0028603
 protein coding gene Chr4:134524850-134565406 (-)
C57BL/6NJ MGP_C57BL6NJ_G0029331
 protein coding gene Chr4:141198426-141234366 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0026602
 protein coding gene Chr4:123620003-123653421 (-)
CAST/EiJ MGP_CASTEiJ_G0028036
 protein coding gene Chr4:132641877-132676660 (-)
CBA/J MGP_CBAJ_G0028568
 protein coding gene Chr4:144888226-144923447 (-)
DBA/2J MGP_DBA2J_G0028717
 protein coding gene Chr4:130981427-131013453 (-)
FVB/NJ MGP_FVBNJ_G0028685
 protein coding gene Chr4:129866504-129901623 (-)
LP/J MGP_LPJ_G0028818
 protein coding gene Chr4:136374415-136408448 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0028710
 protein coding gene Chr4:149393105-149427295 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0029369
 protein coding gene Chr4:134723041-134757404 (-)
PWK/PhJ MGP_PWKPhJ_G0027756
 protein coding gene Chr4:127697975-127730670 (-)
SPRET/EiJ MGP_SPRETEiJ_G0027582
 protein coding gene Chr4:130557874-130592264 (-)
WSB/EiJ MGP_WSBEiJ_G0028115
 protein coding gene Chr4:134889186-134922674 (-)



Homology
more
  • Human Ortholog
    DHDDS, dehydrodolichyl diphosphate synthase subunit
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    DHDDS, dehydrodolichyl diphosphate synthase subunit
  • Synonyms
    CIT, CPT, DEDSM, DS, hCIT, HDS, RP59
  • Links
    NCBI Gene ID: 79947
    neXtProt AC: NX_Q86SQ9
    UniProt: Q86SQ9

  • Chr Location
    1p36.11; chr1:26432282-26471306 (+)  GRCh38
Human Diseases
more
  • Diseases
    1 with Dhdds mouse models; 2 with human DHDDS associations

Human Disease Mouse Models
      
IDs
 View 1 model
      
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    20 phenotypes from 3 alleles in 3 genetic backgrounds
    18 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
Homozygosity for a human retinitis pigmentosa (RP59)-associated point mutation induces retinal gliosis without morphological anomalies. Mice with conditional ablation in the retinal pigment epithelium display retinal atrophy and defects in rod and cone responses.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    15
  • GO References
    7
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
    800
  • Tissues
    94
  • cDNA Data
    106
  • Literature Summary
    2
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000012117 Ensembl Gene Model | MGI Sequence Detail 31891 C57BL/6J ±  kb
    transcript ENSMUST00000105887 Ensembl | MGI Sequence Detail 2038 Not Applicable  
    polypeptide ENSMUSP00000101511 Ensembl | MGI Sequence Detail 334 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 106
      cDNA 106

      Microarray probesets 6
    Other
    Accession IDs
    less
    MGI:2140720
    References
    more
    • Summaries
      All 46
      Developmental Gene Expression 2
      Diseases 1
      Gene Ontology 7
      Phenotypes 18
    • Earliest
      J:65060 Kawai J, et al., Functional annotation of a full-length mouse cDNA collection. Nature. 2001 Feb 8;409(6821):685-90
    • Latest
      J:338107 Nguyen MN, et al., A Dhdds K42E knock-in RP59 mouse model shows inner retina pathology and defective synaptic transmission. Cell Death Dis. 2023 Jul 13;14(7):420
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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    Funding Information
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    Send questions and comments to User Support.     		last database update
    04/16/2024
    MGI 6.23     		The Jackson Laboratory