TSC complex subunit 1
| UniProt | Protein Name |
|---|---|
| Q9EP53 |
|
| GO Term | Evidence Code | PMID |
|---|---|---|
| kidney development |
|
|
| neural tube closure |
|
|
| regulation of cell-matrix adhesion |
|
|
| adaptive immune response |
|
|
| protein folding |
|
| GO Term | Evidence Code | PMID |
|---|---|---|
| protein binding |
|
|
| Hsp70 protein binding |
|
|
| ATPase inhibitor activity |
|
|
| ATPase inhibitor activity |
|
|
| protein folding chaperone |
|
| Gene Ontology |
|---|
| negative regulation of TOR signaling |
| negative regulation of cell population proliferation |
| InterPro |
|---|
| Hamartin |
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:0060041 | autism spectrum disorder | |
| DOID:0060564 | spinal disease | |
| DOID:0060648 | anterior segment dysgenesis | |
| DOID:0110861 | autosomal recessive polycystic kidney disease | |
| DOID:13515 | tuberous sclerosis |
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Last updated: April 6, 2026