APPL1 Gene Summary [Human]
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]
Details
| Type | Nonsense Mediated Decay |
| Official Symbol | APPL1 |
| Official Name | adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 1 [Source:HGNC Symbol;Acc:HGNC:24035] |
| Ensembl ID | ENSG00000157500 |
| Bio databases IDs | |
| Aliases | adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 1, DCC-interacting protein 13-alpha |
| Synonyms | 2900057D21RIK, 7330406P05Rik, adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 1, adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 1, APPL, APPL1 (MODY14), DIP13, DIP13alpha, MODY14, RGD1309388, SWI/SNF RELATED REGULATOR SUBFAMILY C |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human APPL1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- beta-tubulin binding
- phospholipid binding
- protein kinase binding
- coiled-coil domain
- protein binding
- phosphotyrosine binding domain
- Pleckstrin homology-like domain
- Bin/Amphiphysin/Rvs domain
- identical protein binding
- phosphatidylinositol binding
- BAR domain of APPL family
- binding protein
- Dcc binding domain
- PH domain
- protein homodimerization
- PDZ binding motif
Pathways
Biological processes and signaling networks where the APPL1 gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- insulin resistance
- impaired glucose tolerance
- maturity-onset diabetes of the young type 14
- non-small cell lung cancer
- glucocorticoid induced osteoporosis
- major depression
- osteoporosis
- monogenic diabetes
role in cell
- cell viability
- expression in
- apoptosis
- activation in
- cell death
- phosphorylation in
- damage
- proliferation
- production in
- generation in
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- nuclear fraction
- glutaminergic synapse
- intracellular membrane-bounded organelle
- ruffle
- presynaptic regions
- postsynaptic region
- cellular membrane
- actin cytoskeleton
- Nucleus
- Plasma Membrane
- endosomes
- vesicles
- cytosol
- vesicle membrane
- membrane ruffles
- endosomal membrane
- early endosomes
- cytoplasmic vesicles
- light microsome fraction
- phagosomes
- macropinosomes
- cytosolic fraction
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human APPL1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- signal transduction
- insulin receptor signaling pathway
- regulation of toll-like receptor 4 signaling pathway
- transforming growth factor beta receptor signaling pathway
- positive regulation of glucose import
- regulation of glucose import
- positive regulation of cytokine production involved in inflammatory response
- positive regulation of melanin biosynthetic process
- protein import into nucleus
- cellular response to hepatocyte growth factor stimulus
- signaling
- regulation of innate immune response
- regulation of G1/S transition of mitotic cell cycle
- adiponectin-mediated signaling pathway
- regulation of fibroblast migration
Cellular Component
Where in the cell the gene product is active
- macropinosome
- plasma membrane
- early endosome membrane
- nucleus
- early endosome
- early phagosome
- endosome
- extracellular vesicular exosome
- cytoplasm
- vesicle membrane
- membrane
- ruffle
- cytosol
- cytoplasmic vesicle
- endosome membrane
Molecular Function
What the gene product does at the molecular level
- identical protein binding
- phosphatidylserine binding
- protein homodimerization activity
- protein binding
- beta-tubulin binding
- phosphatidylinositol binding
- protein kinase B binding