NPRL3 Gene Summary [Human]
Contributes to GTPase activator activity. Involved in cellular response to amino acid starvation and negative regulation of TOR signaling. Located in lysosomal membrane. Part of GATOR1 complex. Implicated in focal epilepsy. [provided by Alliance of Genome Resources, Apr 2022]
Details
| Type | Retained Intron |
| Official Symbol | NPRL3 |
| Official Name | NPR3 like, GATOR1 complex subunit [Source:HGNC Symbol;Acc:HGNC:14124] |
| Ensembl ID | ENSG00000103148 |
| Bio databases IDs | |
| Aliases | NPR3 like, GATOR1 complex subunit, conserved gene telomeric to alpha globin cluster |
| Synonyms | Aag, C16orf35, CGTHBA, Conserved Gene Telomeric To Alpha Globin Cluster, Conserved Gene Telomeric To α Globin Cluster, FFEVF3, HS-26, HS-40, m(alpha)RE, MARE, m(α)RE, nitrogen permease regulator-like 3, NPR3, NPR3-like, GATOR1 complex subunit, PHG, Prox1, RGD1308665, RMD11 |
| 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 NPRL3 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Nitrogen Permease regulator of amino acid transport activity 3
- protein binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- cancer
- familial focal epilepsy with variable foci type 3
- epithelial cancer
- hereditary disorder
- abdominal cancer
- epithelial neoplasia
- liver cancer
- renal cell carcinoma
- renal cell cancer
- idiopathic scoliosis
regulates
- MTORC1
role in cell
- response by
- signaling 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
- lysosome membrane
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human NPRL3 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- positive regulation of autophagy
- aorta morphogenesis
- ventricular septum development
- cellular response to amino acid starvation
- palate development
- cardiac muscle tissue development
Cellular Component
Where in the cell the gene product is active
- lysosomal membrane
Molecular Function
What the gene product does at the molecular level
- protein binding
- GTPase activator activity