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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 Complex Subunit DHDDS 3
  • Dehydrodolichyl Diphosphate Syntase Complex Subunit DHDDS 3
  • 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 synthase (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 precursor 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

Additional gene information for DHDDS Gene

No data available for CIViC summary , 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 Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01H026499 2.1 FANTOM5 Ensembl ENCODE dbSUPER 14.8 +68.9 68899 2 HDGF MLX ARNT ZFP64 ARID4B SIN3A DMAP1 ZNF2 ZBTB7B ZNF766 LOC101928324 ARID1A GPATCH3 LIN28A DHDDS ENSG00000207302 LOC105376890 RPL39P7 RPS6KA1 NPM1P39
GH01H026348 1.9 FANTOM5 Ensembl ENCODE dbSUPER 10.8 -77.4 -77350 12 HDGF PKNOX1 FOXA2 MLX ARNT ARID4B SIN3A DMAP1 YY1 ZNF143 CD52 UBXN11 CEP85 CNKSR1 CRYBG2 LIN28A DHDDS SLC30A2 TRIM63 EXTL1
GH01H026431 1.2 ENCODE 15.1 +0.1 87 2 MLX ZFP64 FEZF1 DMAP1 YBX1 YY1 SLC30A9 ZNF143 SP3 NFYC ARID1A ACTG1P20 NPM1P39 HMGN2 MAP3K6 DHDDS RPL17P9 SELENON ENSG00000243659 FAM46B
GH01H026470 1.2 ENCODE 14.3 +40.4 40373 4 HDGF PKNOX1 ARNT ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 ZNF766 ARID1A GPN2 HMGN2 DHDDS ACTG1P20 MAN1C1 LOC101928324 NPM1P39 RPL17P9 MAP3K6
GH01H026377 1.3 Ensembl ENCODE 10.4 -54.1 -54055 1 HDGF PKNOX1 ARNT SIN3A ZNF766 CBX5 FOS REST SMARCB1 ZNF592 LIN28A DHDDS SLC30A2 FAM110D ZNF593 ENSG00000236782 HMGN2 TRIM63 ZNF683
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

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
ENSR00000003556 218 1401 MLX ZFP64 FEZF1 DMAP1 YBX1 YY1 SLC30A9 ZNF143 SP3 NFYC

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 synthase 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 synthase complex with NUS1. Interacts with NPC2.

    Alternative splice isoforms for DHDDS Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for DHDDS Gene

Post-translational modifications for DHDDS Gene

  • Ubiquitination at isoforms=2, 3, 4320
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for DHDDS Gene

Domains & Families for DHDDS Gene

Gene Families for DHDDS Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins

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

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 synthase (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 precursor 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

Phenotypes From GWAS Catalog for DHDDS Gene

Gene Ontology (GO) - Molecular Function for DHDDS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002094 contributes_to polyprenyltransferase activity IDA 25066056
GO:0005515 protein binding IPI 15110773
GO:0016740 transferase activity IEA --
GO:0016765 transferase activity, transferring alkyl or aryl (other than methyl) groups IEA --
genes like me logo Genes that share ontologies with DHDDS: view
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 Models for DHDDS Gene

MGI Knock Outs for DHDDS:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

No data available for 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for DHDDS gene
Compartment Confidence
endoplasmic reticulum 5
plasma membrane 3
extracellular 2
nucleus 2
cytosol 2
cytoskeleton 1
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Plasma membrane (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for DHDDS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IEA --
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with DHDDS: view

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:0006489 dolichyl diphosphate biosynthetic process TAS --
GO:0016094 polyprenol biosynthetic process IBA --
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

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Dehydrodolichol diphosphate
Farnesyl pyrophosphate
  • (2E,6E)-Farnesyl diphosphate
  • (2E,6E)-Farnesyl pyrophosphate
  • (all-E)-Farnesyl diphosphate
  • (E,E)-Farnesyl diphosphate
  • (E,E)-Farnesyl pyrophosphate
13058-04-3
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:

CRISPR Products

Inhibitory RNA Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for DHDDS Gene



Protein tissue co-expression partners for DHDDS Gene

NURSA nuclear receptor signaling pathways regulating expression of DHDDS Gene:

DHDDS

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.

Evidence on tissue expression from TISSUES for DHDDS Gene

  • Muscle(4.4)
  • Lung(4.3)
  • Thyroid gland(4.2)
  • Nervous system(4)
  • Skin(2.3)
  • Blood(2.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for DHDDS Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • immune
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
Organs:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • head
  • middle ear
  • nose
  • outer ear
  • skull
Pelvis:
  • penis
  • testicle
General:
  • blood
  • blood vessel
  • peripheral nervous system
  • red blood cell
  • skin
genes like me logo Genes that share expression patterns with DHDDS: view

Primer 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
chimpanzee
(Pan troglodytes)
Mammalia DHDDS 33 34
  • 99.4 (n)
dog
(Canis familiaris)
Mammalia DHDDS 33 34
  • 93.89 (n)
cow
(Bos Taurus)
Mammalia DHDDS 33 34
  • 90.35 (n)
rat
(Rattus norvegicus)
Mammalia Dhdds 33
  • 89.49 (n)
mouse
(Mus musculus)
Mammalia Dhdds 33 16 34
  • 88.19 (n)
oppossum
(Monodelphis domestica)
Mammalia DHDDS 34
  • 87 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia DHDDS 34
  • 77 (a)
OneToOne
chicken
(Gallus gallus)
Aves DHDDS 33 34
  • 75.98 (n)
lizard
(Anolis carolinensis)
Reptilia DHDDS 34
  • 75 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia dhdds 33
  • 65.56 (n)
African clawed frog
(Xenopus laevis)
Amphibia LOC398626 33
zebrafish
(Danio rerio)
Actinopterygii dhdds 33 34
  • 67.88 (n)
wufd56c06 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.6475 33
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP012908 33
  • 59.48 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG10778 33 34
  • 56.78 (n)
worm
(Caenorhabditis elegans)
Secernentea T01G1.4 33 34
  • 50.79 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AER003C 33
  • 48.95 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes RER2 33 34 36
  • 48.34 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0E17205g 33
  • 47.91 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT2G17570 33
  • 47 (n)
rice
(Oryza sativa)
Liliopsida Os06g0167400 33
  • 50.6 (n)
Os.7478 33
barley
(Hordeum vulgare)
Liliopsida Hv.5262 33
bread mold
(Neurospora crassa)
Ascomycetes NCU03460 33
  • 55.6 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 54 (a)
OneToOne
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPAC4D7.04c 33
  • 49.37 (n)
Species where no ortholog for DHDDS was found in the sources mined by GeneCards:
  • 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
rs147394623 Pathogenic, Retinitis pigmentosa 59 (RP59) [MIM:613861] 26,438,228(+) CCAAG(A/G)AGTGC reference, missense, utr-variant-5-prime
rs1055323 Likely benign 26,471,163(+) CAAGC(C/T)AGGTT upstream-variant-2KB, utr-variant-3-prime
rs12096239 Likely benign 26,470,431(+) CATGA(C/G)CCACC upstream-variant-2KB, utr-variant-3-prime
rs2290588 Likely benign 26,471,017(-) CCTGT(A/G)TACCT upstream-variant-2KB, utr-variant-3-prime
rs6656196 Likely benign 26,432,282(+) GTGTC(A/G)CAGCG upstream-variant-2KB, utr-variant-5-prime

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

Variant ID Type Subtype PubMed ID
nsv945841 CNV duplication 23825009
nsv947418 CNV duplication 23825009

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

Human Gene Mutation Database (HGMD)
DHDDS
SNPedia medical, phenotypic, and genealogical associations of SNPs for
DHDDS

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

Disorders for DHDDS Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
retinitis pigmentosa 59
  • rp59
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 (Biochimica et biophysica acta 2003) 2 3 4 60
  2. Mutation of Nogo-B receptor, a subunit of cis-prenyltransferase, causes a congenital disorder of glycosylation. (PMID: 25066056) Park EJ … Sessa WC (Cell metabolism 2014) 3 4 60
  3. Whole-exome sequencing links a variant in DHDDS to retinitis pigmentosa. (PMID: 21295283) Züchner S … Peričak-Vance MA (American journal of human genetics 2011) 3 4 60
  4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 45 60
  5. Systematic mapping and functional analysis of a family of human epididymal secretory sperm-located proteins. (PMID: 20736409) Li J … Liu Y (Molecular & cellular proteomics : MCP 2010) 3 4 60

Products for DHDDS Gene

Sources for DHDDS Gene

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