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ProteinQ898669· pop 12· linked from 86 articles

Also known as tumor suppressor, tuberous sclerosis 1 protein, TSC1, truncated hemartin, hamartin

Tuberous sclerosis 1 (TSC1), also known as hamartin, is a protein that in humans is encoded by the TSC1 gene.

Protein · UniProt

Hamartin

Gene
TSC1
Organism
Homo sapiens (Human)
Length
1,164 aa
Molecular mass
129,767 Da
Evidence
1: Evidence at protein level

Non-catalytic component of the TSC-TBC complex, a multiprotein complex that acts as a negative regulator of the canonical mTORC1 complex, an evolutionarily conserved central nutrient sensor that stimulates anabolic reactions and macromolecule biosynthesis to promote cellular biomass generation and growth (PubMed:12172553, PubMed:12271141, PubMed:12906785, PubMed:15340059, PubMed:24529379, PubMed:28215400). The TSC-TBC complex acts as a GTPase-activating protein (GAP) for the small GTPase RHEB, a direct activator of the protein kinase activity of mTORC1 (PubMed:12906785, PubMed:15340059, Pub…

3D-structureAlternative splicingChaperoneCoiled coilCytoplasmDisease variantEpilepsyIsopeptide bond
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Swiss-Prot (reviewed) · via UniProt

Wikidata facts

Instance of
protein
Show 2 more facts
found in taxon
Homo sapiens
Sources (4)

via Wikidata · CC0

Article · Português

Proteína 1 de Esclerose Tuberosa, também conhecida como hamartina ou TSC1, é uma proteína humana e gene. Esta proteína da membrana periférica foi implicada como uma supressora de tumores. Também pode estar envolvida no transporte vesicular, em complexo com TSC2. Defeitos neste gene podem causar esclerose tuberosa, devido a um prejuízo funcional do complexo de hamartina-tuberina. Defeitos em TSC1 também podem ser uma causa de .

Abstract from DBpedia / Wikipedia · CC BY-SA