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- Table of Contents
Facts about Hamartin.
Implicated as a tumor suppressor. Involved in microtubule-mediated protein transport, but this appears to be due to unregulated mTOR signaling (By similarity).
Human | |
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Gene Name: | TSC1 |
Uniprot: | Q92574 |
Entrez: | 7248 |
Belongs to: |
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No superfamily |
Hamartin; KIAA0243MGC86987; LAMhamartin; TSC; TSC1; Tuberous sclerosis 1 protein; tuberous sclerosis 1; tumor suppressor
Mass (kDA):
129.767 kDA
Human | |
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Location: | 9q34.13 |
Sequence: | 9; NC_000009.12 (132891349..132945269, complement) |
Highly expressed in skeletal muscle, followed by heart, brain, placenta, pancreas, lung, liver and kidney. Also expressed in embryonic kidney cells.
Cytoplasm. Membrane; Peripheral membrane protein. At steady state found in association with membranes.
PMID: 9242607 by van Slegtenhorst M.A., et al. Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34.
PMID: 9809973 by Plank T.L., et al. Hamartin, the product of the tuberous sclerosis 1 (TSC1) gene, interacts with tuberin and appears to be localized to cytoplasmic vesicles.