Gene
appl1
- ID
- ZDB-GENE-081016-1
- Name
- adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 1
- Symbol
- appl1 Nomenclature History
- Previous Names
- None
- Type
- protein_coding_gene
- Location
- Chr: 11 Mapping Details/Browsers
- Description
- Predicted to have protein kinase B binding activity. Predicted to be involved in insulin receptor signaling pathway. Localizes to early endosome. Human ortholog(s) of this gene implicated in maturity-onset diabetes of the young type 14. Is expressed in nervous system; neural keel; neural tube; and pronephros. Orthologous to human APPL1 (adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 4 figures from Schenck et al., 2008
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 5 figures from Schenck et al., 2008
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| maturity-onset diabetes of the young type 14 | Alliance | {Maturity-onset diabetes of the young, type 14} | 616511 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Domain | IPR001849 | Pleckstrin homology domain |
| Domain | IPR004148 | BAR domain |
| Domain | IPR006020 | PTB/PI domain |
| Domain | IPR037929 | DCC-interacting protein 13-alpha, BAR domain |
| Domain | IPR047236 | DCC-interacting protein 13-alpha/beta, PH domain |
| Domain | IPR047237 | DCC-interacting protein 13-alpha/beta, PTB domain |
| Family | IPR047181 | DCC-interacting protein 13-alpha/beta |
| Homologous_superfamily | IPR011993 | PH-like domain superfamily |
| Homologous_superfamily | IPR027267 | AH/BAR domain superfamily |
Domain Details Per Protein
| Protein | Length | AH/BAR domain superfamily | BAR domain | DCC-interacting protein 13-alpha, BAR domain | DCC-interacting protein 13-alpha/beta | DCC-interacting protein 13-alpha/beta, PH domain | DCC-interacting protein 13-alpha/beta, PTB domain | PH-like domain superfamily | Pleckstrin homology domain | PTB/PI domain |
|---|---|---|---|---|---|---|---|---|---|---|
|
UniProtKB:F1QA18
|
||||||||||
|
UniProtKB:A0A8M9PV15
|
708 | |||||||||
|
UniProtKB:B2XCL9
|
707 |
Interactions and Pathways
No data available
Plasmids
No data available