Gene
huwe1
- ID
- ZDB-GENE-081104-387
- Name
- HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1
- Symbol
- huwe1 Nomenclature History
- Previous Names
-
- sb:eu595
- sb:eu633
- sb:eu703
- si:dkey-242a8.2
- Type
- protein_coding_gene
- Location
- Chr: 23 Mapping Details/Browsers
- Description
- Predicted to have ubiquitin protein ligase activity. Predicted to be involved in base-excision repair; protein polyubiquitination; and ubiquitin-dependent protein catabolic process. Predicted to localize to cytoplasm and nucleus. Human ortholog(s) of this gene implicated in syndromic X-linked intellectual disability Turner type. Orthologous to human HUWE1 (HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1).
- Genome Resources
- Note
- None
- Comparative Information
- All Expression Data
- 6 figures from 3 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
---|---|---|---|
syndromic X-linked intellectual disability Turner type | Alliance | Intellectual developmental disorder, X-linked syndromic, Turner type | 309590 |
Domain, Family, and Site Summary
No data available
Domain Details Per Protein
Protein | Length |
---|---|
UniProtKB:A0A8M3AVJ4
|
4511 |
UniProtKB:A0A8M9Q812
|
4569 |
UniProtKB:A0A8M9PX07
|
4556 |
UniProtKB:A0A8M9PE41
|
4568 |
UniProtKB:A0A8M2B950
|
4568 |
UniProtKB:A0A8M2B9D5
|
4537 |
Interactions and Pathways
No data available
Plasmids
No data available