TSC1

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Tuberous sclerosis 1
Identifiers
Symbol(s) TSC1; TSC; KIAA0243; LAM; MGC86987
External IDs OMIM: 605284 MGI: 1929183 HomoloGene: 314
RNA expression pattern

More reference expression data
Orthologs
Human Mouse
Entrez 7248 64930
Ensembl ENSG00000165699 ENSMUSG00000026812
Uniprot Q92574 n/a
Refseq NM_000368 (mRNA)
NP_000359 (protein)		 NM_022887 (mRNA)
NP_075025 (protein)
Location Chr 9: 134.76 - 134.81 Mb Chr 2: 28.46 - 28.51 Mb
Pubmed search [1] [2]

Tuberous sclerosis protein 1, also known as TSC1or hamartin, is a human protein and gene.[1] 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.

[edit] References

  1. ^ Entrez Gene: TSC1 tuberous sclerosis 1.

[edit] Further reading

  • Hengstschläger M (2002). "Tuberous sclerosis complex genes: from flies to human genetics.". Arch. Dermatol. Res. 293 (8): 383–6. PMID 11686512. 
  • Ramesh V (2004). "Aspects of tuberous sclerosis complex (TSC) protein function in the brain.". Biochem. Soc. Trans. 31 (Pt 3): 579–83. doi:10.1042/. PMID 12773159. 
  • Knowles MA, Hornigold N, Pitt E (2004). "Tuberous sclerosis complex (TSC) gene involvement in sporadic tumours.". Biochem. Soc. Trans. 31 (Pt 3): 597–602. doi:10.1042/. PMID 12773163. 
  • Ellisen LW (2007). "Growth control under stress: mTOR regulation through the REDD1-TSC pathway.". Cell Cycle 4 (11): 1500–02. PMID 16258273. 
  • Jozwiak J, Jozwiak S (2007). "Giant cells: contradiction to two-hit model of tuber formation?". Cell. Mol. Neurobiol. 27 (2): 251–61. doi:10.1007/s10571-006-9106-0. PMID 16897363. 
  • Nagase T, Seki N, Ishikawa K, et al. (1997). "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 (5): 321–9, 341–54. PMID 9039502. 
  • van Slegtenhorst M, de Hoogt R, Hermans C, et al. (1997). "Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34.". Science 277 (5327): 805–8. PMID 9242607. 
  • Jones AC, Daniells CE, Snell RG, et al. (1997). "Molecular genetic and phenotypic analysis reveals differences between TSC1 and TSC2 associated familial and sporadic tuberous sclerosis.". Hum. Mol. Genet. 6 (12): 2155–61. PMID 9328481. 
  • van Slegtenhorst M, Nellist M, Nagelkerken B, et al. (1998). "Interaction between hamartin and tuberin, the TSC1 and TSC2 gene products.". Hum. Mol. Genet. 7 (6): 1053–7. PMID 9580671. 
  • Plank TL, Yeung RS, Henske EP (1998). "Hamartin, the product of the tuberous sclerosis 1 (TSC1) gene, interacts with tuberin and appears to be localized to cytoplasmic vesicles.". Cancer Res. 58 (21): 4766–70. PMID 9809973. 
  • Kwiatkowska J, Jozwiak S, Hall F, et al. (1999). "Comprehensive mutational analysis of the TSC1 gene: observations on frequency of mutation, associated features, and nonpenetrance.". Ann. Hum. Genet. 62 (Pt 4): 277–85. doi:10.1046/j.1469-1809.1998.6240277.x. PMID 9924605. 
  • van Slegtenhorst M, Verhoef S, Tempelaars A, et al. (1999). "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 (4): 285–9. PMID 10227394. 
  • Niida Y, Lawrence-Smith N, Banwell A, et al. (2000). "Analysis of both TSC1 and TSC2 for germline mutations in 126 unrelated patients with tuberous sclerosis.". Hum. Mutat. 14 (5): 412–22. doi:10.1002/(SICI)1098-1004(199911)14:5<412::AID-HUMU7>3.0.CO;2-K. PMID 10533067. 
  • Zhang H, Nanba E, Yamamoto T, et al. (2000). "Mutational analysis of TSC1 and TSC2 genes in Japanese patients with tuberous sclerosis complex.". J. Hum. Genet. 44 (6): 391–6. PMID 10570911. 
  • Nellist M, van Slegtenhorst MA, Goedbloed M, et al. (2000). "Characterization of the cytosolic tuberin-hamartin complex. Tuberin is a cytosolic chaperone for hamartin.". J. Biol. Chem. 274 (50): 35647–52. PMID 10585443. 
  • Yamashita Y, Ono J, Okada S, et al. (2000). "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 (2): 123–6. PMID 10607950. 
  • Lamb RF, Roy C, Diefenbach TJ, et al. (2000). "The TSC1 tumour suppressor hamartin regulates cell adhesion through ERM proteins and the GTPase Rho.". Nat. Cell Biol. 2 (5): 281–7. doi:10.1038/35010550. PMID 10806479. 
  • Miloloza A, Rosner M, Nellist M, et al. (2000). "The TSC1 gene product, hamartin, negatively regulates cell proliferation.". Hum. Mol. Genet. 9 (12): 1721–7. PMID 10915759. 
  • Murthy V, Stemmer-Rachamimov AO, Haddad LA, et al. (2001). "Developmental expression of the tuberous sclerosis proteins tuberin and hamartin.". Acta Neuropathol. 101 (3): 202–10. PMID 11307618. 
  • Catania MG, Mischel PS, Vinters HV (2001). "Hamartin and tuberin interaction with the G2/M cyclin-dependent kinase CDK1 and its regulatory cyclins A and B.". J. Neuropathol. Exp. Neurol. 60 (7): 711–23. PMID 11444800. 
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