| Gene Symbol | TSC1 |
| Full Name | Tuberous Sclerosis Complex 1 |
| Aliases | TSC1, Hamartin, KCAA0025 |
| Protein Family | TSC family |
| Function | It contains several functional domains including a hamartin elbow domain (HED), a transmembrane region, and a conserved tuberous sclerosis complex domain (TSC-TBD)[1]. |
| Primary Expression | neurons and plays important roles in synaptic plasticity, dendritic spine morphology, and neuronal connectivity |
| Subcellular Localization | Cytoplasm, lysosomes, endosomes |
| Molecular Weight | ~130 kDa (1164 amino acids) |
| Amino Acids | 164 aa |
| Pathways | mTOR Signaling, mTOR, mtor |
| UniProt ID | Q9UMX0 |
| Ensembl ID | ENSG00000115159 |
| GeneCards | TSC1 |
| Human Protein Atlas | TSC1 |
| Protein Name | Hamartin (TSC1) |
| Associated Diseases | Aging, Als, Cardiovascular, Ms, Tuberous sclerosis complex, epilepsy |
| Known Drugs/Compounds | rapamycin |
| Interactions | MTOR, TSC2, AKT, FIP200, AKT3, PIK3CA |
| KG Connections | 212 knowledge graph edges |
| Databases | GeneCardsNCBI GeneHPASTRING |