Tuberous sclerosis 1 (TSC1), also known as hamartin, is a
protein that in humans is encoded by the TSC1gene.[5]
Function
TSC1 functions as a co-chaperone which inhibits the ATPase activity of the chaperone
Hsp90 (heat shock protein-90) and decelerates its chaperone cycle. TSC1 functions as a facilitator of Hsp90 in chaperoning the kinase and non-kinase clients including
TSC2, therefore preventing their ubiquitination and degradation in the proteasome.[6] TSC1, TSC2 and
TBC1D7 is a multi-protein complex also known as the TSC complex. This complex negatively regulates
mTORC1 signaling by functioning as a GTPase-activating protein (GAP) for the small GTPase
Rheb, an essential activator of mTORC1. The TSC complex has been implicated as a
tumor suppressor.
^Nellist M, Burgers PC, van den Ouweland AM, Halley DJ, Luider TM (August 2005). "Phosphorylation and binding partner analysis of the TSC1-TSC2 complex". Biochemical and Biophysical Research Communications. 333 (3): 818–26.
doi:
10.1016/j.bbrc.2005.05.175.
PMID15963462.
^Murthy V, Haddad LA, Smith N, Pinney D, Tyszkowski R, Brown D, Ramesh V (May 2000). "Similarities and differences in the subcellular localization of hamartin and tuberin in the kidney". American Journal of Physiology. Renal Physiology. 278 (5): F737–46.
doi:
10.1152/ajprenal.2000.278.5.F737.
PMID10807585.
S2CID13321027.
Hengstschläger M (August 2001). "Tuberous sclerosis complex genes: from flies to human genetics". Archives of Dermatological Research. 293 (8): 383–6.
doi:
10.1007/s004030100250.
PMID11686512.
S2CID35702323.
Ramesh V (June 2003). "Aspects of tuberous sclerosis complex (TSC) protein function in the brain". Biochemical Society Transactions. 31 (Pt 3): 579–83.
doi:
10.1042/BST0310579.
PMID12773159.
Knowles MA, Hornigold N, Pitt E (June 2003). "Tuberous sclerosis complex (TSC) gene involvement in sporadic tumours". Biochemical Society Transactions. 31 (Pt 3): 597–602.
doi:
10.1042/BST0310597.
PMID12773163.
Plank TL, Yeung RS, Henske EP (November 1998). "Hamartin, the product of the tuberous sclerosis 1 (TSC1) gene, interacts with tuberin and appears to be localized to cytoplasmic vesicles". Cancer Research. 58 (21): 4766–70.
PMID9809973.
Lamb RF, Roy C, Diefenbach TJ, Vinters HV, Johnson MW, Jay DG, Hall A (May 2000). "The TSC1 tumour suppressor hamartin regulates cell adhesion through ERM proteins and the GTPase Rho". Nature Cell Biology. 2 (5): 281–7.
doi:
10.1038/35010550.
PMID10806479.
S2CID25353057.
Murthy V, Stemmer-Rachamimov AO, Haddad LA, Roy JE, Cutone AN, Beauchamp RL, Smith N, Louis DN, Ramesh V (March 2001). "Developmental expression of the tuberous sclerosis proteins tuberin and hamartin". Acta Neuropathologica. 101 (3): 202–10.
doi:
10.1007/s004010000269.
PMID11307618.
S2CID8067136.
Tuberous sclerosis 1 (TSC1), also known as hamartin, is a
protein that in humans is encoded by the TSC1gene.[5]
Function
TSC1 functions as a co-chaperone which inhibits the ATPase activity of the chaperone
Hsp90 (heat shock protein-90) and decelerates its chaperone cycle. TSC1 functions as a facilitator of Hsp90 in chaperoning the kinase and non-kinase clients including
TSC2, therefore preventing their ubiquitination and degradation in the proteasome.[6] TSC1, TSC2 and
TBC1D7 is a multi-protein complex also known as the TSC complex. This complex negatively regulates
mTORC1 signaling by functioning as a GTPase-activating protein (GAP) for the small GTPase
Rheb, an essential activator of mTORC1. The TSC complex has been implicated as a
tumor suppressor.
^Nellist M, Burgers PC, van den Ouweland AM, Halley DJ, Luider TM (August 2005). "Phosphorylation and binding partner analysis of the TSC1-TSC2 complex". Biochemical and Biophysical Research Communications. 333 (3): 818–26.
doi:
10.1016/j.bbrc.2005.05.175.
PMID15963462.
^Murthy V, Haddad LA, Smith N, Pinney D, Tyszkowski R, Brown D, Ramesh V (May 2000). "Similarities and differences in the subcellular localization of hamartin and tuberin in the kidney". American Journal of Physiology. Renal Physiology. 278 (5): F737–46.
doi:
10.1152/ajprenal.2000.278.5.F737.
PMID10807585.
S2CID13321027.
Hengstschläger M (August 2001). "Tuberous sclerosis complex genes: from flies to human genetics". Archives of Dermatological Research. 293 (8): 383–6.
doi:
10.1007/s004030100250.
PMID11686512.
S2CID35702323.
Ramesh V (June 2003). "Aspects of tuberous sclerosis complex (TSC) protein function in the brain". Biochemical Society Transactions. 31 (Pt 3): 579–83.
doi:
10.1042/BST0310579.
PMID12773159.
Knowles MA, Hornigold N, Pitt E (June 2003). "Tuberous sclerosis complex (TSC) gene involvement in sporadic tumours". Biochemical Society Transactions. 31 (Pt 3): 597–602.
doi:
10.1042/BST0310597.
PMID12773163.
Plank TL, Yeung RS, Henske EP (November 1998). "Hamartin, the product of the tuberous sclerosis 1 (TSC1) gene, interacts with tuberin and appears to be localized to cytoplasmic vesicles". Cancer Research. 58 (21): 4766–70.
PMID9809973.
Lamb RF, Roy C, Diefenbach TJ, Vinters HV, Johnson MW, Jay DG, Hall A (May 2000). "The TSC1 tumour suppressor hamartin regulates cell adhesion through ERM proteins and the GTPase Rho". Nature Cell Biology. 2 (5): 281–7.
doi:
10.1038/35010550.
PMID10806479.
S2CID25353057.
Murthy V, Stemmer-Rachamimov AO, Haddad LA, Roy JE, Cutone AN, Beauchamp RL, Smith N, Louis DN, Ramesh V (March 2001). "Developmental expression of the tuberous sclerosis proteins tuberin and hamartin". Acta Neuropathologica. 101 (3): 202–10.
doi:
10.1007/s004010000269.
PMID11307618.
S2CID8067136.