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Aliases for DHDDS Gene

Aliases for DHDDS Gene

  • Dehydrodolichyl Diphosphate Synthase 2 3
  • HDS 3 4 6
  • Epididymis Tissue Protein Li 189m 3 4
  • Cis-Isoprenyltransferase 3 4
  • Cis-IPTase 3 4
  • RP59 3 6
  • CIT 3 4
  • Dehydrodolichyl Diphosphate Syntase Complex Subunit DHDDS 3
  • Cis-Prenyl Transferase 3
  • Dedol-PP Synthase 3
  • EC 2.5.1.87 4
  • CPT 3
  • DS 3

External Ids for DHDDS Gene

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) is a Protein Coding gene. Diseases associated with DHDDS include retinitis pigmentosa 59 and dhdds-related retinitis pigmentosa. Among its related pathways are ERK Signaling and Actin Nucleation by ARP-WASP Complex. 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

Genomic Location for DHDDS Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for DHDDS Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DHDDS Gene

Regulatory Elements 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

  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys5 and Lys320

No data available for DME Specific Peptides for DHDDS Gene

Domains for DHDDS Gene

Protein Domains for DHDDS Gene

UniProtKB/Swiss-Prot:

DHDDS_HUMAN
Family:
  • Belongs to the UPP synthase family.:
    • Q86SQ9
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

Gene Ontology (GO) - Molecular Function for DHDDS Gene

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

No data available for Phenotypes , Animal Models , Transcription Factor Targeting 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 5
cytosol 2
nucleus 2
plasma membrane 2
mitochondrion 1

Gene Ontology (GO) - Cellular Components for DHDDS Gene

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

Pathways 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:0006488 dolichol-linked oligosaccharide biosynthetic process TAS --
GO:0006489 dolichyl diphosphate biosynthetic process TAS --
GO:0008152 metabolic process --
GO:0018279 protein N-linked glycosylation via asparagine TAS --
GO:0043687 post-translational protein modification TAS --
genes like me logo Genes that share ontologies with DHDDS: view

Compounds for DHDDS Gene

(1) HMDB Compounds for DHDDS Gene

Compound Synonyms Cas Number PubMed IDs
Undecaprenyl diphosphate
  • 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
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 (4.0).

Integrated Proteomics: protein expression 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 expressions with DHDDS: view

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 36
  • 99.4 (n)
  • 99.4 (a)
DHDDS 37
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia DHDDS 36
  • 90.35 (n)
  • 94.59 (a)
DHDDS 37
  • 79 (a)
OneToOne
dog
(Canis familiaris)
Mammalia DHDDS 36
  • 93.89 (n)
  • 97 (a)
DHDDS 37
  • 97 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Dhdds 36
  • 88.19 (n)
  • 92.49 (a)
Dhdds 16
Dhdds 37
  • 92 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia DHDDS 37
  • 87 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia DHDDS 37
  • 77 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Dhdds 36
  • 89.49 (n)
  • 92.19 (a)
chicken
(Gallus gallus)
Aves DHDDS 36
  • 75.98 (n)
  • 81.68 (a)
DHDDS 37
  • 82 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia DHDDS 37
  • 75 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia LOC398626 36
tropical clawed frog
(Silurana tropicalis)
Amphibia dhdds 36
  • 65.56 (n)
  • 72.21 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.6475 36
zebrafish
(Danio rerio)
Actinopterygii dhdds 36
  • 67.88 (n)
  • 70 (a)
dhdds 37
  • 69 (a)
OneToOne
wufd56c06 36
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP012908 36
  • 59.48 (n)
  • 54.9 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG10778 36
  • 56.78 (n)
  • 53.23 (a)
CG10778 37
  • 49 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea T01G1.4 36
  • 50.79 (n)
  • 44.09 (a)
T01G1.4 37
  • 38 (a)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AER003C 36
  • 48.95 (n)
  • 41.84 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes RER2 36
  • 48.34 (n)
  • 44.16 (a)
RER2 37
  • 38 (a)
OneToOne
RER2 39
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0E17205g 36
  • 47.91 (n)
  • 41.56 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT2G17570 36
  • 47 (n)
  • 41 (a)
barley
(Hordeum vulgare)
Liliopsida Hv.5262 36
rice
(Oryza sativa)
Liliopsida Os.7478 36
Os06g0167400 36
  • 50.6 (n)
  • 45.02 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU03460 36
  • 55.6 (n)
  • 48.28 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPAC4D7.04c 36
  • 49.37 (n)
  • 44.35 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 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 MAF
rs2445639 -- 26,459,435(+) GCTAT(A/G)CATAT intron-variant
rs2445640 -- 26,461,828(+) AAATT(A/G)AAAGA intron-variant
rs3001256 -- 26,457,037(+) CAAGA(C/T)GTTTT intron-variant
rs3127010 -- 26,456,209(-) tAAAA(C/T)CTTAT intron-variant
rs3127011 -- 26,456,189(-) ATGGA(C/T)CCTGA intron-variant

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

Variant ID Type Subtype PubMed ID
dgv202n71 CNV Loss 21882294

Relevant External Links for DHDDS Gene

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

Disorders for DHDDS Gene

(1) OMIM Diseases for DHDDS Gene (608172)

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

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
  2. Identification and characterization of a cDNA encoding a long-chain cis-isoprenyltransferase involved in dolichyl monophosphate biosynthesis in the ER of brain cells. (PMID: 14652022) Shridas P. … Waechter C.J. (Biochem. Biophys. Res. Commun. 2003) 3 4
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4
  5. 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

Products for DHDDS Gene

Sources for DHDDS Gene

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