Gene
sharpin
- ID
- ZDB-GENE-101223-1
- Name
- SHANK-associated RH domain interacting protein
- Symbol
- sharpin Nomenclature History
- Previous Names
-
- sipl1 (1)
- Type
- protein_coding_gene
- Location
- Chr: 2 Mapping Details/Browsers
- Description
- Predicted to have ubiquitin binding activity and ubiquitin-protein transferase activity. Involved in embryonic cranial skeleton morphogenesis; eye morphogenesis; and otic vesicle morphogenesis. Predicted to localize to LUBAC complex. Is expressed in brain; eye; otic vesicle; and pharyngeal arch. Orthologous to human SHARPIN (SHANK associated RH domain interactor).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 2 figures from Landgraf et al., 2010
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 1 Figure from Landgraf et al., 2010
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| Autoinflammation with episodic fever and immune dysregulation | 620795 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Domain | IPR001876 | Zinc finger, RanBP2-type |
| Domain | IPR031912 | Sharpin, PH domain |
| Family | IPR051628 | Linear Ubiquitination-Associated E3 Ligases |
| Homologous_superfamily | IPR011993 | PH-like domain superfamily |
| Homologous_superfamily | IPR029071 | Ubiquitin-like domain superfamily |
| Homologous_superfamily | IPR036443 | Zinc finger, RanBP2-type superfamily |
Domain Details Per Protein
| Protein | Length | Linear Ubiquitination-Associated E3 Ligases | PH-like domain superfamily | Sharpin, PH domain | Ubiquitin-like domain superfamily | Zinc finger, RanBP2-type | Zinc finger, RanBP2-type superfamily |
|---|---|---|---|---|---|---|---|
|
UniProtKB:X1WDE8
|
394 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
sharpin-201
(1)
|
Ensembl | 4,149 nt |
Interactions and Pathways
No data available
Plasmids
No data available