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 enable identical protein binding activity. Located in early endosome. Is expressed in nervous system; neural keel; neural tube; and pronephros. Human ortholog(s) of this gene implicated in maturity-onset diabetes of the young type 14. 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
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| hu3559 | Allele with one point mutation | Unknown | Premature Stop | ENU |
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| Targeting Reagent | Created Alleles | Citations |
|---|---|---|
| MO1-appl1 | N/A | Schenck et al., 2008 |
| MO2-appl1 | N/A | (2) |
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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 |
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Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Additional Resources | 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 | InterPro | ||||||||||
| UniProtKB:A0A8M9PV15 | InterPro | 708 | |||||||||
| UniProtKB:B2XCL9 | InterPro | 707 |
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Interactions and Pathways
No data available
Plasmids
No data available
No data available
No data available
| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_001128074 (1) | 2234 nt | ||
| Genomic | GenBank:LO017916 (1) | 38700 nt | ||
| Polypeptide | UniProtKB:A0A8M9PV15 (1) | 708 aa |
- Heng, J., Lv, P., Zhang, Y., Cheng, X., Wang, L., Ma, D., Liu, F. (2020) Rab5c-mediated endocytic trafficking regulates hematopoietic stem and progenitor cell development via Notch and AKT signaling. PLoS Biology. 18:e3000696
- Kok, F.O., Shin, M., Ni, C., Gupta, A., Grosse, A.S., van Impel, A., Kirchmaier, B.C., Peterson-Maduro, J., Kourkoulis, G., Male, I., DeSantis, D.F., Sheppard-Tindell, S., Ebarasi, L., Betsholtz, C., Schulte-Merker, S., Wolfe, S.A., Lawson, N.D. (2015) Reverse Genetic Screening Reveals Poor Correlation between Morpholino-Induced and Mutant Phenotypes in Zebrafish. Developmental Cell. 32(1):97-108
- Schenck, A., Goto-Silva, L., Collinet, C., Rhinn, M., Giner, A., Habermann, B., Brand, M., and Zerial, M. (2008) The endosomal protein Appl1 mediates Akt substrate specificity and cell survival in vertebrate development. Cell. 133(3):486-497
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