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MGP005943

UniProt Annotations

Entry Information
Gene Namedehydrodolichyl diphosphate synthase
Protein EntryDHDDS_HUMAN
UniProt IDQ86SQ9
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=4; Name=1; IsoId=Q86SQ9-1; Sequence=Displayed; Name=2; IsoId=Q86SQ9-2; Sequence=VSP_010031; Name=3; IsoId=Q86SQ9-3; Sequence=VSP_010030; Note=May be due to exon skipping.; Name=4; IsoId=Q86SQ9-4; Sequence=VSP_045007; Note=No experimental confirmation available.;
Catalytic Activity(2E,6E)-farnesyl diphosphate + n isopentenyl diphosphate = n diphosphate + ditrans,polycis-polyprenyl diphosphate (n = 10-55). {ECO:0000303|PubMed:25066056}.
DiseaseRetinitis 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.
FunctionWith 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. {ECO:0000269|PubMed:25066056, ECO:0000303|PubMed:21572394}.
PathwayProtein modification; protein glycosylation. {ECO:0000305}.
SimilarityBelongs to the UPP synthase family. {ECO:0000305}.
Subcellular LocationEndoplasmic reticulum membrane {ECO:0000269|PubMed:14652022}; Peripheral membrane protein {ECO:0000269|PubMed:14652022}. Note=colocalizes with calnexin.
SubunitForms an active dehydrodolichyl diphosphate syntase complex with NUS1. Interacts with NPC2. {ECO:0000269|PubMed:21572394, ECO:0000269|PubMed:25066056}.
Tissue SpecificityExpressed at high levels in testis and kidney. Expressed in epididymis (at protein level). Slightly expressed in heart, spleen and thymus. {ECO:0000269|PubMed:20736409}.
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