Aliases for APPL1 Gene
- Adaptor Protein, Phosphotyrosine Interacting With PH Domain And Leucine Zipper 1 2 3 5
- DCC-Interacting Protein 13-Alpha 2 3 4
- Adaptor Protein, Phosphotyrosine Interaction, PH Domain And Leucine Zipper Containing 1 2 3
- Adapter Protein Containing PH Domain, PTB Domain And Leucine Zipper Motif 1 3 4
- Dip13-Alpha 3 4
- APPL 3 4
External Ids for APPL1 Gene
Previous GeneCards Identifiers for APPL1 Gene
The protein encoded by this gene has been shown to be involved in the regulation of cell proliferation, and in the crosstalk between the adiponectin signalling and insulin signalling pathways. The encoded protein binds many other proteins, including RAB5A, DCC, AKT2, PIK3CA, adiponectin receptors, and proteins of the NuRD/MeCP1 complex. This protein is found associated with endosomal membranes, but can be released by EGF and translocated to the nucleus. [provided by RefSeq, Jul 2008]
GeneCards Summary for APPL1 Gene
APPL1 (Adaptor Protein, Phosphotyrosine Interacting With PH Domain And Leucine Zipper 1) is a Protein Coding gene. Diseases associated with APPL1 include Maturity-Onset Diabetes Of The Young, Type 14 and Maturity-Onset Diabetes Of The Young. Among its related pathways are CDK-mediated phosphorylation and removal of Cdc6 and Dimerization of procaspase-8. Gene Ontology (GO) annotations related to this gene include identical protein binding and protein kinase B binding. An important paralog of this gene is APPL2.
UniProtKB/Swiss-Prot Summary for APPL1 Gene
Multifunctional adapter protein that binds to various membrane receptors, nuclear factors and signaling proteins to regulate many processes, such as cell proliferation, immune response, endosomal trafficking and cell metabolism (PubMed:26583432, PubMed:15016378, PubMed:26073777, PubMed:19661063, PubMed:10490823). Regulates signaling pathway leading to cell proliferation through interaction with RAB5A and subunits of the NuRD/MeCP1 complex (PubMed:15016378). Functions as a positive regulator of innate immune response via activation of AKT1 signaling pathway by forming a complex with APPL1 and PIK3R1 (By similarity). Inhibits Fc-gamma receptor-mediated phagocytosis through PI3K/Akt signaling in macrophages (By similarity). Regulates TLR4 signaling in activated macrophages (By similarity). Involved in trafficking of the TGFBR1 from the endosomes to the nucleus via microtubules in a TRAF6-dependent manner (PubMed:26583432). Plays a role in cell metabolism by regulating adiponecting and insulin signaling pathways (PubMed:26073777, PubMed:19661063, PubMed:24879834). Required for fibroblast migration through HGF cell signaling (By similarity). Positive regulator of beta-catenin/TCF-dependent transcription through direct interaction with RUVBL2/reptin resulting in the relief of RUVBL2-mediated repression of beta-catenin/TCF target genes by modulating the interactions within the beta-catenin-reptin-HDAC complex (PubMed:19433865).