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Description for Protein TSC1

tuberous sclerosis 1
30 total interacting proteins; 20 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 1/1)
(phosphoproteome: 1; undefined: 1)
Summary:
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] (PubMed Links)
Domains and Motifs:
  • CC: Coiled Coil
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    None Available
    KEGG - Orthology:
    K07206
    KEGG - Pathway(s):
    hsa04150; hsa04910
    (The yellow boxes represents platelet proteins)
    Nomenclature / Alternative Names:
    Hamartin; KIAA0243; LAM; MGC86987; TSC; Tuberous sclerosis 1 protein; Tumor suppressor; TSC1 gene; Tuberous sclerosis 1 protein isoform 1; Tuberous sclerosis 1 protein isoform 2
    Approved Symbol:
    TSC1
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 14
    Human (de-) phosphorylation sites: 14; Platelet phosphorylation sites: 1
    Phosphorylation Targets:
    Total phosphorylation targets: 0
    Human phosphorylation targets: 0;Predicted platelet targets: 0
    		Protein Characteristics:
    Isoform-specific Information
    Icon DrugsAssociated Drugs (DrugBank Accession):

    None Available

    Associated Genetic Diseases:

  • Focal cortical dysplasia of taylor, type IIb(Pd);
  • Lymphangioleiomyomatosis(Pd);
  • Tuberous sclerosis 1(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 2 : 0
  • Isoform 1 : 0
    • Additional Identifiers:

    HPRD: 05594 Entrez Gene ID: 7248 OMIM ID: 605284 Swissprot Accession: B7Z897; Q32NF0; Q92574;