NUS1

This gene encodes a type I single transmembrane domain receptor, which is a subunit of cis-prenyltransferase, and serves as a specific receptor for the neural and cardiovascular regulator Nogo-B. The encoded protein is essential for dolichol synthesis and protein glycosylation. This gene is highly expressed in non-small cell lung carcinomas as well as estrogen receptor-alpha positive breast cancer cells where it promotes epithelial mesenchymal transition. This gene is associated with the poor prognosis of human hepatocellular carcinoma patients. Naturally occurring mutations in this gene cause a congenital disorder of glycosylation and are associated with epilepsy. A knockout of the orthologous gene in mice causes embryonic lethality before day 6.5. Pseudogenes of this gene have been defined on chromosomes 13 and X.

NUS1 Dehydrodolichyl Diphosphate Synthase Subunit

With DHDDS, forms the dehydrodolichyl diphosphate synthase (DDS) complex, an essential component of the dolichol monophosphate (Dol-P) biosynthetic machinery. Both subunits contribute to enzymatic activity, i.e. condensation of multiple copies of isopentenyl pyrophosphate (IPP) to farnesyl pyrophosphate (FPP) to produce dehydrodolichyl diphosphate (Dedol-PP), a precursor of dolichol phosphate which is utilized as a sugar carrier in protein glycosylation in the endoplasmic reticulum (ER) (PubMed:21572394, PubMed:25066056, PubMed:28842490, PubMed:32817466).
Synthesizes long-chain polyprenols, mostly of C95 and C100 chain length (PubMed:32817466).
Regulates the glycosylation and stability of nascent NPC2, thereby promoting trafficking of LDL-derived cholesterol. Acts as a specific receptor for the N-terminus of Nogo-B, a neural and cardiovascular regulator (PubMed:16835300).

AngiogenesisIEA:UniProtKB-KW
Cell differentiationIEA:UniProtKB-KW
Cholesterol homeostasisIEA:Ensembl
Dolichol biosynthetic processManual Assertion Based On ExperimentIMP:MGI
Dolichyl diphosphate biosynthetic processManual Assertion Based On ExperimentIDA:UniProtKB
Positive regulation of blood vessel endothelial cell migrationManual Assertion Based On ExperimentIMP:BHF-UCL
Positive regulation of nitric-oxide synthase activityManual Assertion Based On ExperimentIMP:BHF-UCL
Protein glycosylationManual Assertion Based On ExperimentIBA:GO_Central
Protein mannosylationIEA:Ensembl
Regulation of intracellular cholesterol transportManual Assertion Based On ExperimentIGI:MGI
Vascular endothelial growth factor signaling pathwayManual Assertion Based On ExperimentIMP:BHF-UCL

Endoplasmic reticulum membrane
Colocalizes with Nogo-B during VEGF and wound healing angiogenesis.

Congenital disorder of glycosylation 1AA (CDG1AA):
A form of congenital disorder of glycosylation, a multisystem disorder caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions. CDG1AA inheritance is autosomal recessive.
Intellectual developmental disorder, autosomal dominant 55, with seizures (MRD55):
A form of mental retardation, a disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRD55 patients suffer from seizures appearing during the first years of life.