Gene
nus1
- ID
- ZDB-GENE-040718-48
- Name
- NUS1 dehydrodolichyl diphosphate synthase subunit
- Symbol
- nus1 Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 20 Mapping Details/Browsers
- Description
- Predicted to have transferase activity, transferring alkyl or aryl (other than methyl) groups. Involved in sprouting angiogenesis. Predicted to localize to several cellular components, including dehydrodolichyl diphosphate synthase complex; endoplasmic reticulum; and endoplasmic reticulum membrane. Human ortholog(s) of this gene implicated in autosomal dominant mental retardation 55 and congenital disorder of glycosylation Iaa. Is expressed in blastomere; brain; notochord; and trunk. Orthologous to human NUS1 (NUS1 dehydrodolichyl diphosphate synthase subunit).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 2 figures from Zhao et al., 2010
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| autosomal dominant intellectual developmental disorder 55 | Alliance | Intellectual developmental disorder, autosomal dominant 55, with seizures | 617831 |
| congenital disorder of glycosylation Iaa | Alliance | ?Congenital disorder of glycosylation, type 1aa | 617082 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | Decaprenyl diphosphate synthase-like | Decaprenyl diphosphate synthase-like superfamily | Dehydrodolichyl diphosphate synthase complex subunit Nus1 |
|---|---|---|---|---|
|
UniProtKB:Q6DHR8
|
274 |
Interactions and Pathways
No data available
Plasmids
No data available