Symbol: Name: ID: |
TSC1 tuberous sclerosis 1 GFS:2169 |
Gene name: | TSC1 |
Chromosome: | 9q34 |
Previous Symbols: | TSC |
Previous Names: | |
Aliases: | KIAA0243, LAM, hamartin |
Name Aliases: | |
Locus Type: | gene with protein product |
Mouse Genome Database ID: | MGI:1929183 | Rat Genome Database ID: | RGD:620124 |
HGNC ID: | HGNC:12362 | RefSeq IDs: | NM_000368 |
Entrez Gene ID: | 7248 | Ensembl Gene ID: | ENSG00000165699 |
VEGA IDs: | OTTHUMG00000020844 | UniProt ID: | Q92574 |
UCSC ID: | uc004cca.2 | OMIM ID: | 605284 |
Pubmed: | PMID9242607 PMID 10806479 | ||
CCDS IDs: | CCDSCCDS6956.1 |
Tuberous sclerosis protein 1, also known as TSC1 or hamartin, is a human protein and gene. 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].
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.
Products for TSC1 gene
Catalog | Product Name | Application | Company |
GFS:E02169 | tuberous sclerosis 1; ELISA kit | ELISA | n/a |
GFS:A02169 | tuberous sclerosis 1; Anti | ANTIBODIES | n/a |
GFS:P02169 | tuberous sclerosis 1; Protien | Protien | n/a |