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Tuberous Sclerosis Protein 1 (TSC1)

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LAM; Hamartin

Tuberous Sclerosis Protein 1 (TSC1)
CCC C813
HGNC 12362
MGI 1929183
PubMed 9242607
RGD 620124
UniProt Q92574
Wiki TSC1
Tuberous sclerosis protein 1, also known as TSC1 or hamartin, This peripheral membrane protein was implicated as a tumor suppressor. It may be also involved in vesicular transport and docking, in complex with TSC2.Defects in this gene may cause tuberous sclerosis, due to a functional impairment of the hamartin-tuberin complex. Defects in TSC1 may also be a cause of focal cortical dysplasia.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.

Organism species: Homo sapiens (Human)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins RPC813Hu01 Recombinant Tuberous Sclerosis Protein 1 (TSC1) Positive Control; Immunogen; SDS-PAGE; WB.
Antibodies PAC813Hu01 Polyclonal Antibody to Tuberous Sclerosis Protein 1 (TSC1) WB; IHC; IF
Assay Kits n/a CLIA Kit for Tuberous Sclerosis Protein 1 (TSC1) CLIA Kit Customized Service Offer
n/a ELISA Kit for Tuberous Sclerosis Protein 1 (TSC1) ELISA Kit Customized Service Offer

Organism species: Mus musculus (Mouse)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Tuberous Sclerosis Protein 1 (TSC1) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Tuberous Sclerosis Protein 1 (TSC1) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Tuberous Sclerosis Protein 1 (TSC1) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Tuberous Sclerosis Protein 1 (TSC1) CLIA Kit Customized Service Offer
n/a ELISA Kit for Tuberous Sclerosis Protein 1 (TSC1) ELISA Kit Customized Service Offer

Organism species: Rattus norvegicus (Rat)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Tuberous Sclerosis Protein 1 (TSC1) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Tuberous Sclerosis Protein 1 (TSC1) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Tuberous Sclerosis Protein 1 (TSC1) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Tuberous Sclerosis Protein 1 (TSC1) CLIA Kit Customized Service Offer
n/a ELISA Kit for Tuberous Sclerosis Protein 1 (TSC1) ELISA Kit Customized Service Offer
  1. "Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34." Science 277:805-808(1997) [PubMed] [Europe PMC] [Abstract]
  2. "Complete sequencing and characterization of 21,243 full-length human cDNAs." Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
  3. "DNA sequence and analysis of human chromosome 9." Nature 429:369-374(2004) [PubMed] [Europe PMC] [Abstract]
  4. "Prediction of the coding sequences of unidentified human genes. VI. The coding sequences of 80 new genes (KIAA0201-KIAA0280) deduced by analysis of cDNA clones from cell line KG-1 and brain."DNA Res. 3:321-329(1996) [PubMed] [Europe PMC] [Abstract]
  5. "Hamartin, the product of the tuberous sclerosis 1 (TSC1) gene, interacts with tuberin and appears to be localized to cytoplasmic vesicles."Cancer Res. 58:4766-4770(1998) [PubMed] [Europe PMC] [Abstract]
  6. "Interaction between hamartin and tuberin, the TSC1 and TSC2 gene products."Hum. Mol. Genet. 7:1053-1057(1998) [PubMed] [Europe PMC] [Abstract]
  7. "Characterization of the cytosolic tuberin-hamartin complex. Tuberin is a cytosolic chaperone for hamartin."J. Biol. Chem. 274:35647-35652(1999) [PubMed] [Europe PMC] [Abstract]
  8. "Tuberous sclerosis complex-1 and -2 gene products function together to inhibit mammalian target of rapamycin (mTOR)-mediated downstream signaling."Proc. Natl. Acad. Sci. U.S.A. 99:13571-13576(2002) [PubMed] [Europe PMC] [Abstract]
  9. "Biochemical and functional characterizations of small GTPase Rheb and TSC2 GAP activity."Mol. Cell. Biol. 24:7965-7975(2004) [PubMed] [Europe PMC] [Abstract]
  10. "Phosphorylation and binding partner analysis of the TSC1-TSC2 complex."Biochem. Biophys. Res. Commun. 333:818-826(2005) [PubMed] [Europe PMC] [Abstract]
  11. "TSC1 stabilizes TSC2 by inhibiting the interaction between TSC2 and the HERC1 ubiquitin ligase."J. Biol. Chem. 281:8313-8316(2006) [PubMed] [Europe PMC] [Abstract]
  12. "Identification of TBC7 having TBC domain as a novel binding protein to TSC1-TSC2 complex."Biochem. Biophys. Res. Commun. 361:218-223(2007) [PubMed] [Europe PMC] [Abstract]
  13. "ATM and ATR substrate analysis reveals extensive protein networks responsive to DNA damage."Science 316:1160-1166(2007) [PubMed] [Europe PMC] [Abstract]
  14. "WD40 protein FBW5 promotes ubiquitination of tumor suppressor TSC2 by DDB1-CUL4-ROC1 ligase."Genes Dev. 22:866-871(2008) [PubMed] [Europe PMC] [Abstract]
  15. "Phosphoproteome of resting human platelets."J. Proteome Res. 7:526-534(2008) [PubMed] [Europe PMC] [Abstract]
  16. "A quantitative atlas of mitotic phosphorylation."Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed] [Europe PMC] [Abstract]
  17. "Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach."Anal. Chem. 81:4493-4501(2009) [PubMed] [Europe PMC] [Abstract]
  18. "Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions."Sci. Signal. 2:RA46-RA46(2009) [PubMed] [Europe PMC] [Abstract]
  19. "Initial characterization of the human central proteome."BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]
  20. "An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome."J. Proteomics 96:253-262(2014) [PubMed] [Europe PMC] [Abstract]
  21. "Molecular genetic and phenotypic analysis reveals differences between TSC1 and TSC2 associated familial and sporadic tuberous sclerosis."Hum. Mol. Genet. 6:2155-2161(1997) [PubMed] [Europe PMC] [Abstract]
  22. "Comprehensive mutational analysis of the TSC1 gene: observations on frequency of mutation, associated features, and nonpenetrance."Ann. Hum. Genet. 62:277-285(1998) [PubMed] [Europe PMC] [Abstract]
  23. "Protein truncation test for screening hamartin gene mutations and report of new disease-causing mutations."Hum. Mutat. 14:428-432(1999) [PubMed] [Europe PMC] [Abstract]
  24. "Analysis of both TSC1 and TSC2 for germline mutations in 126 unrelated patients with tuberous sclerosis."Hum. Mutat. 14:412-422(1999) [PubMed] [Europe PMC] [Abstract]
  25. "Mutational analysis of TSC1 and TSC2 genes in Japanese patients with tuberous sclerosis complex."J. Hum. Genet. 44:391-396(1999) [PubMed] [Europe PMC] [Abstract]
  26. "Mutational spectrum of the TSC1 gene in a cohort of 225 tuberous sclerosis complex patients: no evidence for genotype-phenotype correlation."J. Med. Genet. 36:285-289(1999) [PubMed] [Europe PMC] [Abstract]
  27. "Analysis of all exons of TSC1 and TSC2 genes for germline mutations in Japanese patients with tuberous sclerosis: report of 10 mutations."Am. J. Med. Genet. 90:123-126(2000) [PubMed] [Europe PMC] [Abstract]
  28. "Tuberous sclerosis type 1: three novel mutations detected in exon 15 by a combination of HDA and TGGE."Hum. Mutat. 16:88-88(2000) [PubMed] [Europe PMC] [Abstract]
  29. "Focal cortical dysplasia of Taylor's balloon cell type: mutational analysis of the TSC1 gene indicates a pathogenic relationship to tuberous sclerosis."Ann. Neurol. 52:29-37(2002) [PubMed] [Europe PMC] [Abstract]
  30. "Bladder tumour-derived somatic TSC1 missense mutations cause loss of function via distinct mechanisms."Hum. Mol. Genet. 17:2006-2017(2008) [PubMed] [Europe PMC] [Abstract]
  31. "Missense mutations to the TSC1 gene cause tuberous sclerosis complex."Eur. J. Hum. Genet. 17:319-328(2009) [PubMed] [Europe PMC] [Abstract]
  32. "Functional assessment of TSC1 missense variants identified in individuals with tuberous sclerosis complex."Hum. Mutat. 33:476-479(2012) [PubMed] [Europe PMC] [Abstract]