| Gene Symbol |
TSC1
|
| Entrez Gene |
7248
|
| Alt Symbol |
LAM, TSC
|
| Species |
Human
|
| Gene Type |
protein-coding
|
| Description |
tuberous sclerosis 1
|
| Other Description |
hamartin|tuberous sclerosis 1 protein|tumor suppressor
|
| Swissprots |
Q5VVN5 B7Z897 Q92574
|
| Accessions |
AAF61948 AAG02406 AAK12099 AAK60414 AAK60415 AAK60416 ABS18758 EAW88021 Q92574 AA215977 AB190910 BAD91314 AF013168 AAC51674 AK297326 BAH12548 AK299654 BAH13090 AK303030 BAH13883 AK308412 BC047772 AAH47772 BC070032 AAH70032 BC108668 AAI08669 BC121000 AAI21001 BC167824 AAI67824 BI463204 D87683 BAA13436 DA726552 KJ534953 AHW56593 N63914 XM_005272211 XP_005272268 XM_006717271 XP_006717334 XM_006717272 XP_006717335 XM_011518979 XP_011517281 NM_000368 NP_000359 NM_001162426 NP_001155898 NM_001162427 NP_001155899 NM_001008567
|
| Function |
In complex with TSC2, inhibits the nutrient-mediated or growth factor-stimulated phosphorylation of S6K1 and EIF4EBP1 by negatively regulating mTORC1 signaling. Seems not to be required for TSC2 GAP activity towards RHEB. Implicated as a tumor suppressor. Involved in microtubule-mediated protein transport, but this seems to be due to unregulated mTOR signaling. {ECO:0000269|PubMed:12271141, ECO:0000269|PubMed:15340059}.
|
| Subcellular Location |
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.
|
| Tissue Specificity |
Highly expressed in skeletal muscle, followed by heart, brain, placenta, pancreas, lung, liver and kidney. Also expressed in embryonic kidney cells.
|
| Top Pathways |
Insulin signaling pathway, PI3K-Akt signaling pathway, AMPK signaling pathway, Choline metabolism in cancer, mTOR signaling pathway
|
![Western Blot: TSC1 Overexpression Lysate (Adult Normal) [NBL1-17350] Left-Empty vector transfected control cell lysate (HEK293 cell lysate); Right -Over-expression Lysate for TSC1.](http://www.bioprodhub.com/system/product_images/cel_products/5/sub_2/3869_TSC1%2520Overexpression%2520Lysate%2520(Adult%2520Normal)-Western%2520Blot-NBL1-17350-img0002.jpg)