NUS1 Gene Summary [Human]
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. [provided by RefSeq, May 2017]
Details
| Type | Protein Coding |
| Official Symbol | NUS1 |
| Official Name | NUS1 dehydrodolichyl diphosphate synthase subunit [Source:HGNC Symbol;Acc:HGNC:21042] |
| Ensembl ID | ENSG00000153989 |
| Bio databases IDs | |
| Aliases | NUS1 dehydrodolichyl diphosphate synthase subunit, Nogo-B receptor, transport and golgi organization 14 homolog (Drosophila) |
| Synonyms | 1600027K07Rik, C6orf68, CDG1AA, D10Ertd438e, MGC:7199, MRD55, NgBR, NUS1 dehydrodolichyl diphosphate synthase subunit, RGD1307879, TANGO14 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human NUS1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Cis (Z)-Isoprenyl Diphosphate Synthases
- prenyltransferase
- dehydrodolichyl diphosphate synthase
- enzyme
- protein binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- insulin resistance
- non-insulin-dependent diabetes mellitus
- autosomal dominant mental retardation 55 with seizures
- congenital disorder of glycosylation type 1aa
- hereditary disorder
- metabolic syndrome X
- congenital disorders of glycosylation
- diabetes mellitus
- congenital bilateral perisylvian polymicrogyria
- type 2 diabetic obesity
role in cell
- phosphorylation in
- loss
- migration
- chemotaxis
- production in
- morphogenesis
- accumulation in
- N-glycosylation in
- mass
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- cellular membrane
- endoplasmic reticulum membrane
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human NUS1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- dolichol biosynthetic process
- positive regulation of nitric-oxide synthase activity
- angiogenesis
- regulation of intracellular cholesterol transport
- cell differentiation
- protein glycosylation
- vascular endothelial growth factor signaling pathway
- protein mannosylation
- cholesterol homeostasis
- positive regulation of blood vessel endothelial cell migration
- dolichyl diphosphate biosynthetic process
Cellular Component
Where in the cell the gene product is active
- endoplasmic reticulum membrane
Molecular Function
What the gene product does at the molecular level
- protein binding
- metal ion binding
- prenyltransferase activity
- dehydrodolichyl diphosphate synthase activity