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Hamartin; tuberous sclerosis 1 protein (TSC1, KIAA0243, TSC)

Function: - in complex with TSC2 (tuberin), inhibits the nutrient-mediated or growth factor-stimulated phosphorylation of S6K1 & EIF4EBP1 by negatively regulating mTORC1 signaling - seems not to be required for TSC2 GAP activity towards RHEB - implicated as a tumor suppressor - role in microtubule-mediated protein transport, but this seems to be due to unregulated mTOR signaling - phosphorylation at Ser-505 does not affect interaction with TSC2 - phosphorylated upon DNA damage, probably by ATM or ATR - interacts with TSC2, leading to stabilize TSC2 - in the absence of TSC2, TSC1 (hamartin) self-aggregates - interacts with DOCK7 Structure: - the C-terminal putative coiled-coil domain is necessary for interaction with TSC2 Compartment: - cytoplasm,membrane, peripheral membrane - at steady state found in association with membranes Expression: - expressed in skeletal muscle > heart, brain, placenta, pancreas, lung, liver & kidney - also expressed in embryonic kidney cells Pathology: - defects in TSC1 are the cause of tuberous sclerosis - defects in TSC1 may be a cause of focal cortical dysplasia of Taylor balloon cell type

Interactions

molecular events

Related

TSC1 gene TSC1 gene mutation; hamartin gene mutation

General

anti-oncoprotein (tumor suppressor protein) phosphoprotein

Properties

SIZE: entity length = 1164 aa MW = 130 kD COMPARTMENT: cytoplasm MOTIF: Ser phosphorylation site {S394} Ser phosphorylation site {S505} Ser phosphorylation site {S511} Ser phosphorylation site {S598} coiled coil {721-997} glycine-rich region {1034-1037} serine-rich region {1038-1043} MOTIF: serine residue (SEVERAL) Ser phosphorylation site {S1102}

Database Correlations

OMIM correlations MORBIDMAP 605284 UniProt Q92574 Entrez Gene 7248 Kegg hsa:7248

References

  1. UniProt :accession Q92574
  2. Atlas of Genetics & Cytogenetics in Oncology & Haematology http://atlasgeneticsoncology.org/genes/TSC1ID183.html
  3. GeneReviews http://www.ncbi.nlm.nih.gov/sites/genetests/lab/gene/TSC1

Component-of

molecular complex