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Descriptor English: Tuberous Sclerosis Complex 1 Protein
Descriptor Spanish: Proteína 1 del Complejo de la Esclerosis Tuberosa
Descriptor proteína 1 del complejo de esclerosis tuberosa
Entry term(s) hamartina
Scope note: Proteína de señalización intracelular y supresora tumoral que forma un complejo con la PROTEÍNA 2 DEL COMPLEJO DE ESCLEROSIS TUBEROSA (TSC2) y con otros factores de señalización para regular negativamente la señalización de MTORC1 e influir en el crecimiento y la proliferación celulares. Desde el punto de vista estructural, interacciona con la TSC2 por medio de su extremo N, que también contiene sitios de fosforilación de GSK-3BETA y un dominio de activación de CINASAS ASOCIADAS A RHO. También contiene un dominio carboxiterminal superenrollado y un dominio de ezrina-radixina-moesina (ERM). Las mutaciones del gen TSC1 se asocian a ESCLEROSIS TUBEROSA.
Descriptor Portuguese: Proteína 1 do Complexo Esclerose Tuberosa
Descriptor French: Protéine-1 du complexe de la sclérose tubéreuse
Entry term(s): Hamartin
Tree number(s): D12.644.360.925
D12.776.476.932
D12.776.624.776.766
RDF Unique Identifier: https://id.nlm.nih.gov/mesh/D000077004
Scope note: An intracellular signaling and tumor suppressor protein that forms a complex with TUBEROUS SCLEROSIS COMPLEX 2 PROTEIN (TSC2) and other signaling factors to negatively regulate MTORC1 signaling and affect cell growth and proliferation. Structurally, it interacts with TSC2 through its N-terminal, which also contains GSK-3BETA phosphorylation sites and a RHO-KINASE activation domain. It also contains a C-terminal coiled-coil domain and ezrin-radixin-moesin (ERM) domain. Mutations in the TSC1 gene are associated with TUBEROUS SCLEROSIS.
Allowable Qualifiers: AD administration & dosage
AE adverse effects
AG agonists
AI antagonists & inhibitors
AN analysis
BI biosynthesis
BL blood
CF cerebrospinal fluid
CH chemistry
CL classification
CS chemical synthesis
DE drug effects
DF deficiency
EC economics
GE genetics
HI history
IM immunology
IP isolation & purification
ME metabolism
PD pharmacology
PH physiology
PK pharmacokinetics
PO poisoning
RE radiation effects
SD supply & distribution
ST standards
TO toxicity
TU therapeutic use
UL ultrastructure
UR urine
Public MeSH Note: 2019; TUBEROUS SCLEROSIS COMPLEX 1 PROTEIN was indexed under TUMOR SUPPRESSOR PROTEINS 2006-2018 and under PROTEINS 1997-2005
History Note: 2019 (1997)
DeCS ID: 57502
Unique ID: D000077004
Documents indexed in the Virtual Health Library (VHL): Click here to access the VHL documents
Date Established: 2019/01/01
Date of Entry: 2018/07/09
Revision Date: 2019/04/29
Tuberous Sclerosis Complex 1 Protein - Preferred
Concept UI M0279212
Scope note An intracellular signaling and tumor suppressor protein that forms a complex with TUBEROUS SCLEROSIS COMPLEX 2 PROTEIN (TSC2) and other signaling factors to negatively regulate MTORC1 signaling and affect cell growth and proliferation. Structurally, it interacts with TSC2 through its N-terminal, which also contains GSK-3BETA phosphorylation sites and a RHO-KINASE activation domain. It also contains a C-terminal coiled-coil domain and ezrin-radixin-moesin (ERM) domain. Mutations in the TSC1 gene are associated with TUBEROUS SCLEROSIS.
Preferred term Tuberous Sclerosis Complex 1 Protein
Entry term(s) Hamartin



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