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Aliases for DHDDS Gene

Aliases for DHDDS Gene

  • Dehydrodolichyl Diphosphate Synthase Subunit 2 3 5
  • Epididymis Tissue Protein Li 189m 3 4
  • Cis-Isoprenyltransferase 3 4
  • Cis-IPTase 3 4
  • CIT 3 4
  • HDS 3 4
  • Dehydrodolichyl Diphosphate Synthase 2
  • Cis-Prenyl Transferase 3
  • Dedol-PP Synthase 3
  • EC 2.5.1.87 4
  • RP59 3
  • CPT 3
  • DS 3

External Ids for DHDDS Gene

Previous GeneCards Identifiers for DHDDS Gene

  • GC01P025991
  • GC01P026363
  • GC01P026442
  • GC01P026631
  • GC01P026758
  • GC01P025013

Summaries for DHDDS Gene

Entrez Gene Summary for DHDDS Gene

  • 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]

GeneCards Summary for DHDDS Gene

DHDDS (Dehydrodolichyl Diphosphate Synthase Subunit) is a Protein Coding gene. Diseases associated with DHDDS include retinitis pigmentosa 59 and dhdds-related retinitis pigmentosa. Among its related pathways are Terpenoid backbone biosynthesis and Transport to the Golgi and subsequent modification. GO annotations related to this gene include transferase activity, transferring alkyl or aryl (other than methyl) groups.

UniProtKB/Swiss-Prot for DHDDS Gene

  • With DHDDS, forms the dehydrodolichyl diphosphate syntase (DDS) complex, an essential component of the dolichol monophosphate (Dol-P) biosynthetic machinery. Adds multiple copies of isopentenyl pyrophosphate (IPP) to farnesyl pyrophosphate (FPP) to produce dehydrodolichyl diphosphate (Dedol-PP), a precusrosor of dolichol which is utilized as a sugar carrier in protein glycosylation in the endoplasmic reticulum (ER). Regulates the glycosylation and stability of nascent NPC2, thereby promoting trafficking of LDL-derived cholesterol.

Gene Wiki entry for DHDDS Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DHDDS Gene

Genomics for DHDDS Gene

Regulatory Elements for DHDDS Gene

Enhancers for DHDDS Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around DHDDS on UCSC Golden Path with GeneCards custom track

Promoters for DHDDS Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around DHDDS on UCSC Golden Path with GeneCards custom track

Genomic Location for DHDDS Gene

Chromosome:
1
Start:
26,432,282 bp from pter
End:
26,471,306 bp from pter
Size:
39,025 bases
Orientation:
Plus strand

Genomic View for DHDDS Gene

Genes around DHDDS on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DHDDS Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DHDDS Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DHDDS Gene

Proteins for DHDDS Gene

  • Protein details for DHDDS Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q86SQ9-DHDDS_HUMAN
    Recommended name:
    Dehydrodolichyl diphosphate syntase complex subunit DHDDS
    Protein Accession:
    Q86SQ9
    Secondary Accessions:
    • B7Z4B9
    • B7ZB20
    • D3DPK7
    • D3DPK8
    • D3DPK9
    • E9KL43
    • Q5T0A4
    • Q8NE90
    • Q9BTG5
    • Q9BTK3
    • Q9H905

    Protein attributes for DHDDS Gene

    Size:
    333 amino acids
    Molecular mass:
    38657 Da
    Quaternary structure:
    • Forms an active dehydrodolichyl diphosphate syntase complex with NUS1. Interacts with NPC2.

    Alternative splice isoforms for DHDDS Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for DHDDS Gene

Proteomics data for DHDDS Gene at MOPED

Post-translational modifications for DHDDS Gene

  • Ubiquitination at Lys 320
  • Modification sites at PhosphoSitePlus

Antibody Products

No data available for DME Specific Peptides for DHDDS Gene

Domains & Families for DHDDS Gene

Protein Domains for DHDDS Gene

Graphical View of Domain Structure for InterPro Entry

Q86SQ9

UniProtKB/Swiss-Prot:

DHDDS_HUMAN :
  • Belongs to the UPP synthase family.
Family:
  • Belongs to the UPP synthase family.
genes like me logo Genes that share domains with DHDDS: view

No data available for Gene Families for DHDDS Gene

Function for DHDDS Gene

Molecular function for DHDDS Gene

UniProtKB/Swiss-Prot CatalyticActivity:
(2E,6E)-farnesyl diphosphate + n isopentenyl diphosphate = n diphosphate + ditrans,polycis-polyprenyl diphosphate (n = 10-55).
UniProtKB/Swiss-Prot Function:
With DHDDS, forms the dehydrodolichyl diphosphate syntase (DDS) complex, an essential component of the dolichol monophosphate (Dol-P) biosynthetic machinery. Adds multiple copies of isopentenyl pyrophosphate (IPP) to farnesyl pyrophosphate (FPP) to produce dehydrodolichyl diphosphate (Dedol-PP), a precusrosor of dolichol which is utilized as a sugar carrier in protein glycosylation in the endoplasmic reticulum (ER). Regulates the glycosylation and stability of nascent NPC2, thereby promoting trafficking of LDL-derived cholesterol.

Enzyme Numbers (IUBMB) for DHDDS Gene

genes like me logo Genes that share phenotypes with DHDDS: view

Human Phenotype Ontology for DHDDS Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

No data available for Gene Ontology (GO) - Molecular Function , Animal Models , Transcription Factor Targets and HOMER Transcription for DHDDS Gene

Localization for DHDDS Gene

Subcellular locations from UniProtKB/Swiss-Prot for DHDDS Gene

Endoplasmic reticulum membrane; Peripheral membrane protein. Note=colocalizes with calnexin.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for DHDDS Gene COMPARTMENTS Subcellular localization image for DHDDS gene
Compartment Confidence
endoplasmic reticulum 4
plasma membrane 3
cytosol 2
extracellular 2
nucleus 2
cytoskeleton 1
mitochondrion 1

No data available for Gene Ontology (GO) - Cellular Components for DHDDS Gene

Pathways & Interactions for DHDDS Gene

genes like me logo Genes that share pathways with DHDDS: view

UniProtKB/Swiss-Prot Q86SQ9-DHDDS_HUMAN

  • Pathway: Protein modification; protein glycosylation.

Gene Ontology (GO) - Biological Process for DHDDS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006486 protein glycosylation IEA --
GO:0006488 dolichol-linked oligosaccharide biosynthetic process TAS --
GO:0008152 metabolic process IEA --
GO:0043687 post-translational protein modification TAS --
GO:0044267 cellular protein metabolic process TAS --
genes like me logo Genes that share ontologies with DHDDS: view

No data available for SIGNOR curated interactions for DHDDS Gene

Drugs & Compounds for DHDDS Gene

(1) Drugs for DHDDS Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
farnesyl diphosphate Experimental Pharma Antagonist 0

(2) Additional Compounds for DHDDS Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Dehydrodolichol diphosphate
Undecaprenyl diphosphate
  • Bactoprenyl pyrophosphate
  • Diphosphoric acid mono(3,7,11,15,19,23,27,31,35,39,43-undecamethyl-2,6,10,14,18,22,26,30,34,38,42-tetratetracontaundecaenyl) ester
  • Undecaprenyl diphosphate
  • Undecaprenyl pyrophosphate
  • Undecaprenyl-PP
23-13-2
genes like me logo Genes that share compounds with DHDDS: view

Transcripts for DHDDS Gene

Unigene Clusters for DHDDS Gene

Dehydrodolichyl diphosphate synthase:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for DHDDS Gene

ExUns: 1a · 1b · 1c · 1d · 1e ^ 2a · 2b ^ 3a · 3b ^ 4a · 4b · 4c ^ 5a · 5b ^ 6a · 6b ^ 7a · 7b ^ 8a · 8b ^ 9 ^ 10a · 10b · 10c · 10d
SP1: - - - - - -
SP2: - - - - - - - - -
SP3: - - - - -
SP4: - - - - -
SP5: - - - -
SP6: - -
SP7: - - - -
SP8: - - - -
SP9: - - - -
SP10: - - -
SP11:

Relevant External Links for DHDDS Gene

GeneLoc Exon Structure for
DHDDS
ECgene alternative splicing isoforms for
DHDDS

Expression for DHDDS Gene

mRNA expression in normal human tissues for DHDDS Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for DHDDS Gene

This gene is overexpressed in Brain - Cerebellum (x4.0).

Protein differential expression in normal tissues from HIPED for DHDDS Gene

This gene is overexpressed in Breast (59.0) and Bone (9.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for DHDDS Gene



SOURCE GeneReport for Unigene cluster for DHDDS Gene Hs.369385

mRNA Expression by UniProt/SwissProt for DHDDS Gene

Q86SQ9-DHDDS_HUMAN
Tissue specificity: Expressed at high levels in testis and kidney. Expressed in epididymis (at protein level). Slightly expressed in heart, spleen and thymus.
genes like me logo Genes that share expression patterns with DHDDS: view

Protein tissue co-expression partners for DHDDS Gene

Primer Products

In Situ Assay Products

Orthologs for DHDDS Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for DHDDS Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia DHDDS 35
  • 90.35 (n)
  • 94.59 (a)
DHDDS 36
  • 79 (a)
OneToOne
dog
(Canis familiaris)
Mammalia DHDDS 35
  • 93.89 (n)
  • 97 (a)
DHDDS 36
  • 97 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Dhdds 35
  • 88.19 (n)
  • 92.49 (a)
Dhdds 16
Dhdds 36
  • 92 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia DHDDS 35
  • 99.4 (n)
  • 99.4 (a)
DHDDS 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Dhdds 35
  • 89.49 (n)
  • 92.19 (a)
oppossum
(Monodelphis domestica)
Mammalia DHDDS 36
  • 87 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia DHDDS 36
  • 77 (a)
OneToOne
chicken
(Gallus gallus)
Aves DHDDS 35
  • 75.98 (n)
  • 81.68 (a)
DHDDS 36
  • 82 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia DHDDS 36
  • 75 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia dhdds 35
  • 65.56 (n)
  • 72.21 (a)
African clawed frog
(Xenopus laevis)
Amphibia LOC398626 35
zebrafish
(Danio rerio)
Actinopterygii dhdds 35
  • 67.88 (n)
  • 70 (a)
wufd56c06 35
dhdds 36
  • 69 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.6475 35
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP012908 35
  • 59.48 (n)
  • 54.9 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG10778 35
  • 56.78 (n)
  • 53.23 (a)
CG10778 36
  • 49 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea T01G1.4 35
  • 50.79 (n)
  • 44.09 (a)
T01G1.4 36
  • 38 (a)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AER003C 35
  • 48.95 (n)
  • 41.84 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0E17205g 35
  • 47.91 (n)
  • 41.56 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes RER2 35
  • 48.34 (n)
  • 44.16 (a)
RER2 36
  • 38 (a)
OneToOne
RER2 38
thale cress
(Arabidopsis thaliana)
eudicotyledons AT2G17570 35
  • 47 (n)
  • 41 (a)
barley
(Hordeum vulgare)
Liliopsida Hv.5262 35
rice
(Oryza sativa)
Liliopsida Os.7478 35
Os06g0167400 35
  • 50.6 (n)
  • 45.02 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU03460 35
  • 55.6 (n)
  • 48.28 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPAC4D7.04c 35
  • 49.37 (n)
  • 44.35 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 54 (a)
OneToOne
Species with no ortholog for DHDDS:
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for DHDDS Gene

ENSEMBL:
Gene Tree for DHDDS (if available)
TreeFam:
Gene Tree for DHDDS (if available)

Paralogs for DHDDS Gene

No data available for Paralogs for DHDDS Gene

Variants for DHDDS Gene

Sequence variations from dbSNP and Humsavar for DHDDS Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs3816539 - 26,460,136(+) ATAGC(A/G)TGCTT reference, missense
VAR_065356 Retinitis pigmentosa 59 (RP59)
rs2494394 -- 26,469,760(-) CGCCT(A/G)GCTTC utr-variant-3-prime
rs2445639 -- 26,459,435(+) GCTAT(A/G)CATAT intron-variant
rs2445640 -- 26,461,828(+) AAATT(A/G)AAAGA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for DHDDS Gene

Variant ID Type Subtype PubMed ID
dgv202n71 CNV Loss 21882294

Variation tolerance for DHDDS Gene

Residual Variation Intolerance Score: 50.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 10.81; 91.70% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for DHDDS Gene

HapMap Linkage Disequilibrium report
DHDDS
Human Gene Mutation Database (HGMD)
DHDDS

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DHDDS Gene

Disorders for DHDDS Gene

MalaCards: The human disease database

(9) MalaCards diseases for DHDDS Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
retinitis pigmentosa 59
  • retinitis pigmentosa type 59
dhdds-related retinitis pigmentosa
  • retinitis pigmentosa 59
retinitis pigmentosa
  • retinitis pigmentosa 1
histrionic personality disorder
peripheral retinal degeneration
  • peripheral degeneration of retina
- elite association - COSMIC cancer census association via MalaCards
Search DHDDS in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

DHDDS_HUMAN
  • Retinitis pigmentosa 59 (RP59) [MIM:613861]: A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. {ECO:0000269 PubMed:21295283}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for DHDDS

Genetic Association Database (GAD)
DHDDS
Human Genome Epidemiology (HuGE) Navigator
DHDDS
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
DHDDS
genes like me logo Genes that share disorders with DHDDS: view

No data available for Genatlas for DHDDS Gene

Publications for DHDDS Gene

  1. Identification of human dehydrodolichyl diphosphate synthase gene. (PMID: 12591616) Endo S. … Koyama T. (Biochim. Biophys. Acta 2003) 2 3 4 67
  2. In vivo interaction between the human dehydrodolichyl diphosphate synthase and the Niemann-Pick C2 protein revealed by a yeast two- hybrid system. (PMID: 15110773) Kharel Y. … Koyama T. (Biochem. Biophys. Res. Commun. 2004) 3 23
  3. Two specific mutations are prevalent causes of recessive retinitis pigmentosa in North American patients of Jewish ancestry. (PMID: 25255364) Venturini G. … Rivolta C. (Genet. Med. 2015) 3
  4. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  5. Mutation K42E in dehydrodolichol diphosphate synthase (DHDDS) causes recessive retinitis pigmentosa. (PMID: 24664694) Lam B.L. … PeriA8ak-Vance M.A. (Adv. Exp. Med. Biol. 2014) 3

Products for DHDDS Gene

Sources for DHDDS Gene

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