NUS1 Gene
NUS1 Dehydrodolichyl Diphosphate Synthase Subunit
Gene Information Card
| Symbol | NUS1 |
|---|---|
| Full Name | NUS1 Dehydrodolichyl Diphosphate Synthase Subunit |
| Gene Type | protein-coding |
| Chromosomal Location | 6q22.1 |
| NCBI Gene ID | 116150 ncbi.nlm.nih.gov/gene/116150 |
| Ensembl ID | ENSG00000153989 |
| UniProt ID | Q96E22 |
| OMIM ID | 610463 |
| HGNC ID | 26463 |
| Aliases | C6orf113, DHDDS2, Nogo-B receptor, NgBR |
Description
NUS1 encodes the dehydrodolichyl diphosphate synthase subunit, a key enzyme in the dolichol biosynthesis pathway. This protein is essential for N-glycosylation and protein modification. Mutations in NUS1 are associated with congenital disorders of glycosylation, dystonia, and epileptic encephalopathies.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Congenital disorder of glycosylation type Iaa | Impaired dolichol synthesis leading to defective N-glycosylation | OMIM #617082 |
| Dystonia 28 | Loss-of-function mutations affecting neuronal protein glycosylation | OMIM #617282 |
| Epileptic encephalopathy, early infantile, 67 | Disrupted glycosylation impacting synaptic function | OMIM #618929 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Liver | 8.3 | Low |
| Kidney | 10.1 | Medium |
| Testis | 15.2 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 14.0 | High expression |
| SH-SY5Y | 11.5 | Medium expression |
| HepG2 | 9.8 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | Rare | Loss of start codon, protein truncation |
| c.289G>A (p.Gly97Arg) | Missense | Rare | Impaired enzyme activity |
| c.518T>C (p.Leu173Pro) | Missense | Rare | Structural destabilization |
Mutation functional classification
Loss of Function (LOF)
Most reported NUS1 mutations result in loss of enzymatic function, reducing dolichol synthesis and N-glycosylation.
Gain of Function (GOF)
No gain-of-function mutations have been described.
Dominant Negative (DN)
Some missense variants may exert dominant-negative effects by disrupting the DHDDS-NUS1 complex.
View complete mutation data：
Gene Ontology (GO)
| • dehydrodolichyl diphosphate synthase activity | • dolichol biosynthetic process |
| • protein N-linked glycosylation | • endoplasmic reticulum membrane |
Pathways
• Dolichol phosphate biosynthesis
• N-glycan biosynthesis
Protein Summary
NUS1 is a 293-amino acid transmembrane protein localized to the endoplasmic reticulum. It forms a heterotetrameric complex with DHDDS to catalyze the synthesis of dehydrodolichyl diphosphate, a precursor for dolichol phosphate required for N-glycosylation. The protein also functions as a receptor for Nogo-B, influencing angiogenesis and cell migration.
Related Services
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