Hamartin - CISMeF

Preferred Label : Hamartin;

NCIt synonyms : Tuberous Sclerosis 1 Protein; TSC1;

NCIt definition : Hamartin (1164 aa, 130 kDa) is encoded by the human TSC1 gene. This protein is involved in the negative regulation of signaling.;

NCIt note : A product of the tumor suppressor gene TSC1. Hamartin and tuberin (TSC2) associate physically and may function together in the insulin-signaling pathway. Hamartin may stabilize ubiquitinated tuberin, which contributes to inhibition of cell growth. Loss of hamartin leads to loss of cell adhesion and initiates the development of TSC hamartomas.;

Details

Origin ID

C18176;

UMLS CUI

C0663937;

OMIM relation
- Tsc complex subunit 1 [OMIM gene]
See also inter- (CISMeF)
- Tuberous sclerosis 1 [OMIM Phenotype]
Semantic type(s)
- Amino Acid, Peptide, or Protein [UMLS semantic type]
- Biologically Active Substance [UMLS semantic type]
UMLS correspondences (same concept)
- TSC1 protein, human [MeSH Supplementary Concept]
- Tuberous Sclerosis Complex 1 Protein [MeSH Descriptor]
- tuberous sclerosis complex 1 protein [MeSH concept]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_encodes_gene_product
- Ligand Binding Protein Gene [NCIt concept]
- TSC1 Gene [NCIt concept]
gene_product_has_structural_domain_or_motif
- Ligand Binding Domain [NCIt concept]
gene_product_is_element_in_pathway
- Insulin/Insulin Receptor Signaling Pathway [NCIt concept]
- LKB1 Signaling Pathway [NCIt concept]
- mTOR Signaling Pathway BioCarta [NCIt concept]
- mTOR Signaling Pathway KEGG [NCIt concept]
- mTOR Signaling Pathway PID [NCIt concept]
gene_product_malfunction_associated_with_disease
- Tuberous Sclerosis [NCIt concept]
gene_product_plays_role_in_biological_process
- Cell Adhesion Process [NCIt concept]
- Cell Proliferation Regulatory Process [NCIt concept]
- Ligand Binding [NCIt concept]

Keyword's position in hierarchy(ies) :

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