[cite web | title = Entrez Gene: TSC1 tuberous sclerosis 1| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=7248| accessdate = ] 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.]References
Further reading
PBB_Further_reading
citations =
*cite journal | author=Hengstschläger M |title=Tuberous sclerosis complex genes: from flies to human genetics. |journal=Arch. Dermatol. Res. |volume=293 |issue= 8 |pages= 383–6 |year= 2002 |pmid= 11686512 |doi=
*cite journal | author=Ramesh V |title=Aspects of tuberous sclerosis complex (TSC) protein function in the brain. |journal=Biochem. Soc. Trans. |volume=31 |issue= Pt 3 |pages= 579–83 |year= 2004 |pmid= 12773159 |doi= 10.1042/
*cite journal | author=Knowles MA, Hornigold N, Pitt E |title=Tuberous sclerosis complex (TSC) gene involvement in sporadic tumours. |journal=Biochem. Soc. Trans. |volume=31 |issue= Pt 3 |pages= 597–602 |year= 2004 |pmid= 12773163 |doi= 10.1042/
*cite journal | author=Ellisen LW |title=Growth control under stress: mTOR regulation through the REDD1-TSC pathway. |journal=Cell Cycle |volume=4 |issue= 11 |pages= 1500–02 |year= 2007 |pmid= 16258273 |doi=
*cite journal | author=Jozwiak J, Jozwiak S |title=Giant cells: contradiction to two-hit model of tuber formation? |journal=Cell. Mol. Neurobiol. |volume=27 |issue= 2 |pages= 251–61 |year= 2007 |pmid= 16897363 |doi= 10.1007/s10571-006-9106-0
*cite journal | author=Nagase T, Seki N, Ishikawa K, "et al." |title=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. |journal=DNA Res. |volume=3 |issue= 5 |pages= 321–9, 341–54 |year= 1997 |pmid= 9039502 |doi=
*cite journal | author=van Slegtenhorst M, de Hoogt R, Hermans C, "et al." |title=Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34. |journal=Science |volume=277 |issue= 5327 |pages= 805–8 |year= 1997 |pmid= 9242607 |doi=
*cite journal | author=Jones AC, Daniells CE, Snell RG, "et al." |title=Molecular genetic and phenotypic analysis reveals differences between TSC1 and TSC2 associated familial and sporadic tuberous sclerosis. |journal=Hum. Mol. Genet. |volume=6 |issue= 12 |pages= 2155–61 |year= 1997 |pmid= 9328481 |doi=
*cite journal | author=van Slegtenhorst M, Nellist M, Nagelkerken B, "et al." |title=Interaction between hamartin and tuberin, the TSC1 and TSC2 gene products. |journal=Hum. Mol. Genet. |volume=7 |issue= 6 |pages= 1053–7 |year= 1998 |pmid= 9580671 |doi=
*cite journal | author=Plank TL, Yeung RS, Henske EP |title=Hamartin, the product of the tuberous sclerosis 1 (TSC1) gene, interacts with tuberin and appears to be localized to cytoplasmic vesicles. |journal=Cancer Res. |volume=58 |issue= 21 |pages= 4766–70 |year= 1998 |pmid= 9809973 |doi=
*cite journal | author=Kwiatkowska J, Jozwiak S, Hall F, "et al." |title=Comprehensive mutational analysis of the TSC1 gene: observations on frequency of mutation, associated features, and nonpenetrance. |journal=Ann. Hum. Genet. |volume=62 |issue= Pt 4 |pages= 277–85 |year= 1999 |pmid= 9924605 |doi= 10.1046/j.1469-1809.1998.6240277.x
*cite journal | author=van Slegtenhorst M, Verhoef S, Tempelaars A, "et al." |title=Mutational spectrum of the TSC1 gene in a cohort of 225 tuberous sclerosis complex patients: no evidence for genotype-phenotype correlation. |journal=J. Med. Genet. |volume=36 |issue= 4 |pages= 285–9 |year= 1999 |pmid= 10227394 |doi=
*cite journal | author=Niida Y, Lawrence-Smith N, Banwell A, "et al." |title=Analysis of both TSC1 and TSC2 for germline mutations in 126 unrelated patients with tuberous sclerosis. |journal=Hum. Mutat. |volume=14 |issue= 5 |pages= 412–22 |year= 2000 |pmid= 10533067 |doi= 10.1002/(SICI)1098-1004(199911)14:5<412::AID-HUMU7>3.0.CO;2-K |doilabel=10.1002/(SICI)1098-1004(199911)14:5412::AID-HUMU73.0.CO;2-K
*cite journal | author=Zhang H, Nanba E, Yamamoto T, "et al." |title=Mutational analysis of TSC1 and TSC2 genes in Japanese patients with tuberous sclerosis complex. |journal=J. Hum. Genet. |volume=44 |issue= 6 |pages= 391–6 |year= 2000 |pmid= 10570911 |doi=
*cite journal | author=Nellist M, van Slegtenhorst MA, Goedbloed M, "et al." |title=Characterization of the cytosolic tuberin-hamartin complex. Tuberin is a cytosolic chaperone for hamartin. |journal=J. Biol. Chem. |volume=274 |issue= 50 |pages= 35647–52 |year= 2000 |pmid= 10585443 |doi=
*cite journal | author=Yamashita Y, Ono J, Okada S, "et al." |title=Analysis of all exons of TSC1 and TSC2 genes for germline mutations in Japanese patients with tuberous sclerosis: report of 10 mutations. |journal=Am. J. Med. Genet. |volume=90 |issue= 2 |pages= 123–6 |year= 2000 |pmid= 10607950 |doi=
*cite journal | author=Lamb RF, Roy C, Diefenbach TJ, "et al." |title=The TSC1 tumour suppressor hamartin regulates cell adhesion through ERM proteins and the GTPase Rho. |journal=Nat. Cell Biol. |volume=2 |issue= 5 |pages= 281–7 |year= 2000 |pmid= 10806479 |doi= 10.1038/35010550
*cite journal | author=Miloloza A, Rosner M, Nellist M, "et al." |title=The TSC1 gene product, hamartin, negatively regulates cell proliferation. |journal=Hum. Mol. Genet. |volume=9 |issue= 12 |pages= 1721–7 |year= 2000 |pmid= 10915759 |doi=
*cite journal | author=Murthy V, Stemmer-Rachamimov AO, Haddad LA, "et al." |title=Developmental expression of the tuberous sclerosis proteins tuberin and hamartin. |journal=Acta Neuropathol. |volume=101 |issue= 3 |pages= 202–10 |year= 2001 |pmid= 11307618 |doi=
*cite journal | author=Catania MG, Mischel PS, Vinters HV |title=Hamartin and tuberin interaction with the G2/M cyclin-dependent kinase CDK1 and its regulatory cyclins A and B. |journal=J. Neuropathol. Exp. Neurol. |volume=60 |issue= 7 |pages= 711–23 |year= 2001 |pmid= 11444800 |doi=
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