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 enable transferase activity, transferring alkyl or aryl (other than methyl) groups. Predicted to contribute to dehydrodolichyl diphosphate synthase activity. Acts upstream of or within intracellular cholesterol transport; sprouting angiogenesis; and swimming behavior. Predicted to be located in endoplasmic reticulum and membrane. Predicted to be part of dehydrodolichyl diphosphate synthase complex. Predicted to be active in endoplasmic reticulum membrane. Is expressed in blastomere; brain; notochord; and trunk. Human ortholog(s) of this gene implicated in autosomal dominant intellectual developmental disorder 55 and congenital disorder of glycosylation Iaa. 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