| URN | urn:agi-llid:7248 |
|---|---|
| Connectivity | 167 |
| Name | Tsc1 |
| Description | tuberous sclerosis 1 |
| Notes | This gene encodes a growth inhibitory protein thought to play a role in the stabilization of tuberin. Mutations in this gene have been associated with tuberous sclerosis. Alternative splicing results in multiple transcript variants. [provided by RefSeq] |
| Pathway | EGFR/ERBB2 -> HIF1A signaling |
|---|---|
| mTOR signaling pathway |
| GO Molecular Function | protein N-terminus binding |
|---|---|
| GTPase activating protein binding | |
| chaperone binding | |
| GTPase regulator activity |
| GO Cellular Component | protein complex |
|---|---|
| membrane | |
| lamellipodium | |
| growth cone | |
| cytoplasm | |
| cell cortex | |
| cytosol | |
| cytoskeletal part | |
| TSC1-TSC2 complex | |
| actin filament | |
| membrane fraction | |
| microsome |
| GO Biological Process | negative regulation of cell proliferation |
|---|---|
| cell projection organization | |
| embryonic development | |
| cerebral cortex development | |
| hippocampus development | |
| neural tube closure | |
| nervous system development | |
| kidney development | |
| cardiac muscle cell differentiation | |
| synapse organization | |
| negative regulation of TOR signaling pathway | |
| regulation of actin cytoskeleton organization | |
| regulation of focal adhesion assembly | |
| regulation of translation | |
| activation of Rho GTPase activity | |
| negative regulation of translation | |
| negative regulation of protein ubiquitination | |
| regulation of protein kinase activity | |
| regulation of phosphoprotein phosphatase activity | |
| positive regulation of focal adhesion assembly | |
| regulation of cell-matrix adhesion | |
| regulation of stress fiber assembly | |
| cell-matrix adhesion | |
| myelination | |
| response to insulin stimulus | |
| protein heterooligomerization | |
| potassium ion transport | |
| rRNA export from nucleus | |
| negative regulation of cell size |
| Ariadne Ontology | PSC |
|---|
| Group | PSC |
|---|---|
| negative regulation of cell proliferation | |
| cell projection organization | |
| embryonic development | |
| cerebral cortex development | |
| hippocampus development | |
| neural tube closure | |
| nervous system development | |
| kidney development | |
| cardiac muscle cell differentiation | |
| synapse organization | |
| negative regulation of TOR signaling pathway | |
| regulation of actin cytoskeleton organization | |
| regulation of focal adhesion assembly | |
| regulation of translation | |
| activation of Rho GTPase activity | |
| negative regulation of translation | |
| negative regulation of protein ubiquitination | |
| regulation of protein kinase activity | |
| regulation of phosphoprotein phosphatase activity | |
| positive regulation of focal adhesion assembly | |
| regulation of cell-matrix adhesion | |
| regulation of stress fiber assembly | |
| cell-matrix adhesion | |
| myelination | |
| response to insulin stimulus | |
| protein heterooligomerization | |
| potassium ion transport | |
| rRNA export from nucleus | |
| negative regulation of cell size | |
| protein N-terminus binding | |
| GTPase activating protein binding | |
| chaperone binding | |
| GTPase regulator activity | |
| protein complex | |
| membrane | |
| lamellipodium | |
| growth cone | |
| cytoplasm | |
| cell cortex | |
| cytosol | |
| cytoskeletal part | |
| TSC1-TSC2 complex | |
| actin filament | |
| membrane fraction | |
| microsome |
| MedScan ID | 7248 |
|---|
| Hugo ID | 12362 |
|---|
| Human chromosome position | 9q34 |
|---|
| LocusLink ID | 7248 |
|---|---|
| 64930 | |
| 60445 |
| Alias | LAM |
|---|---|
| TSC | |
| KIAA0243 | |
| MGC86987 | |
| hamartin | |
| tumor suppressor | |
| OTTHUMP00000022439 | |
| OTTHUMP00000198378 | |
| tuberous sclerosis 1 protein | |
| mKIAA0243 | |
| RP23-362N19.3 | |
| OTTMUSP00000012518 | |
| OTTMUSP00000012519 | |
| OTTMUSP00000012522 | |
| OTTMUSP00000012523 | |
| tuberous sclerosis 1 protein homolog | |
| TSC I | |
| TSC1 | |
| TSC1 gene (hamartin) | |
| tuberous sclerosis 1 | |
| tuberous sclerosis 1 (hamartin) | |
| tuberous sclerosis I |
| Organism | Homo sapiens |
|---|---|
| Mus musculus | |
| Rattus norvegicus |
| OMIM ID | 605284 |
|---|---|
| 607341 | |
| 606690 | |
| 191100 |
| Mouse chromosome position | 2 |
|---|---|
| 2 B-C1.1 |
| GO ID | 0032794 |
|---|---|
| 0030695 | |
| 0051087 | |
| 0047485 | |
| 0032862 | |
| 0055007 | |
| 0030030 | |
| 0007160 | |
| 0021987 | |
| 0009790 | |
| 0021766 | |
| 0001822 | |
| 0042552 | |
| 0032007 | |
| 0008285 | |
| 0045792 | |
| 0031397 | |
| 0017148 | |
| 0007399 | |
| 0001843 | |
| 0051894 | |
| 0006813 | |
| 0051291 | |
| 0006407 | |
| 0032956 | |
| 0001952 | |
| 0043666 | |
| 0045859 | |
| 0051492 | |
| 0006417 | |
| 0032868 | |
| 0050808 | |
| 0033596 | |
| 0005884 | |
| 0005938 | |
| 0005737 | |
| 0005829 | |
| 0030426 | |
| 0030027 | |
| 0016020 | |
| 0005624 | |
| 0005792 | |
| 0043234 | |
| 0051893 | |
| 0044430 | |
| 0045786 | |
| 0005515 | |
| 0009987 | |
| 0007049 | |
| 0007266 | |
| 0007155 | |
| 0050875 |
| Rat chromosome position | 3p12 |
|---|
| Swiss-Prot Accession | Q86WV8 |
|---|---|
| Q92574 | |
| Q32NF0 | |
| B7Z897 | |
| Q0VAM5 | |
| Q59IT9 | |
| Q96RT3 | |
| Q96RT4 | |
| Q9EP53 | |
| Q8BQP0 | |
| Q9Z136 | |
| A2AHW1 | |
| Q3UHF2 | |
| Q7TS92 | |
| Q80U55 | |
| Q924U7 | |
| Q5VVN5 |
| PIR ID | T03814 |
|---|
| Unigene ID | Hs.370854 |
|---|---|
| Mm.224354 | |
| Rn.205837 | |
| Rn.15894 |
| KEGG ID | hsa:7248 |
|---|---|
| mmu:64930 | |
| rno:60445 |
| Swiss-Prot ID | TSC1_MOUSE |
|---|---|
| TSC1_HUMAN | |
| TSC1_RAT | |
| Q86WV8_HUMAN | |
| B7Z897_HUMAN | |
| Q32NF0_HUMAN | |
| Q5VVN5_HUMAN | |
| Q3UHF2_MOUSE | |
| Q924U7_MOUSE |
| Cell Localization | Cytoplasm |
|---|---|
| Membrane |
| IPI ID | IPI00109178 |
|---|---|
| IPI00754969 | |
| IPI00756571 | |
| IPI00943454 | |
| IPI00022043 | |
| IPI00208147 | |
| IPI00384490 | |
| IPI00921907 | |
| IPI00936896 | |
| IPI00745368 | |
| IPI00894971 | |
| IPI00895026 |
| Homologene ID | 314 |
|---|
| RGD ID | 620124 |
|---|
| MGI ID | 1929183 |
|---|