| Gene Information | |
|---|---|
| Gene Name | TSC |
| Organism | Homo sapiens (Human) |
| Gene Length | 1164 |
| Protein Names | Hamartin (Tuberous sclerosis 1 protein) |
| Target Name | NA |
| Target Type | NA |
| Gene Age | NA |
| Evolutionary Stage | NA |
| AlphaFoldDB | Q92574 |
| Gene Card | TSC1 |
| Uniprot ID | Q92574 |
| Pfam | PF04388 |
| In ASD | no |
| Allosteric Prediction | NA |
| Ortholog in Animals | NA |
| Ohnologs | NA |
| Paralogs | NA |
| Tissue | NA |
| Tissue Specificity | Highly expressed in skeletal muscle, followed by heart, brain, placenta, pancreas, lung, liver and kidney. Also expressed in embryonic kidney cells. |
| Pharmacological Animal Models | NULL(Chimpanzee);NULL(Mouse);0.001000(Rat);0.013333(Rabbit) |
| Gene Ontology (biological process) |
|
| Gene Ontology (cellular component) |
|
| Gene Ontology (molecular function) |
|
| PDB | 4Z6Y (X-ray 2.81A ) 5EJC (X-ray 3.10A ) 7DL2 (EM 4.40A ) |
| DBSNP | rs749030456 rs118203342 rs118203345 rs118203347 rs118203354 rs118203368 rs397514843 rs397514784 rs118203381 rs118203385 rs118203385 rs118203396 rs118203403 rs1060505021 rs397514834 rs1323541164 rs118203426 rs118203436 rs118203468 rs118203468 rs1073123 rs397514808 rs397514864 rs397514840 rs77464996 rs118203518 rs118203538 rs118203543 rs118203548 rs397514880 rs118203571 rs118203576 rs75820036 rs397514800 rs397514802 rs118203639 rs118203655 rs118203657 rs118203670 rs118203692 rs397514814 rs118203699 rs118203721 rs76801599 rs397514859 rs118203742 rs118203750 rs118203753 rs397514806 |
| Subcellular location [CC] | Cytoplasm {ECO:0000269|PubMed:9809973}. Membrane {ECO:0000269|PubMed:9809973}; Peripheral membrane protein {ECO:0000269|PubMed:9809973}. Note=At steady state found in association with membranes. {ECO:0000269|PubMed:9809973}. |
| Mouse PG classification | NA |
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