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Anti-TSC1 Antibody, rabbit monoclonal
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REFERENCES
Rhebbing up mTOR: new insights on TSC1 and TSC2, and the pathogenesis of tuberous sclerosis.
Kwiatkowski, David J (2003) Cancer Biol. Ther., 2: 471-6 (2003)
Insulin activation of Rheb, a mediator of mTOR/S6K/4E-BP signaling, is inhibited by TSC1 and 2
Garami, Attila, et al (2003) Mol Cell, 11:1457-66 (2003)
Species Reactivity Key Applications Host Format Antibody Type
Human Only WB, IH(P) Rabbit Semi-Purified Monoclonal Antibody
Description:
Anti-TSC1 Antibody, rabbit monoclonal
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Trade Name:
Upstate (Millipore)
Specificity:
Recognizes the C-terminal domain of human TSC1.
Molecular Weight:
150 kDa
Epitope:
C-terminus
Immunogen:
KLH-conjugated synthetic peptide corresponding to the C-terminal region of human TSC1/Hamartin.
Isotype:
IgG
Species Reactivity:
Human Only
Quality Assurance:
Routinely evaluated by immunoblot.
Storage Conditions:
2 years at -20°C from date of shipment
UniProt Number:
Q92574
Entrez Gene Number:
NM_000368.3
NM_001008567.1
Gene Symbol:
TSC1
TSC
hamartin
LAM
KIAA0243
Hamartin
MGC86987
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Alternate Names:
hamartin; tuberous sclerosis 1 protein
Usage Statement:
Unless otherwise stated in our catalog or other company documentation accompanying the product(s), our products are intended for research use only and are not to be used for any other purpose, which includes but is not limited to, unauthorized commercial uses, in vitro diagnostic uses, ex vivo or in vivo therapeutic uses or any type of consumption or application to humans or animals.
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Key Applications:
Western Blotting
Immunohistochemistry (Paraffin)
UniProt Summary:
FUNCTION: SwissProt: Q92574 # Implicated as a tumor suppressor. May have a function in vesicular transport. Interaction between TSC1 and TSC2 may facilitate vesicular docking.
SIZE: 1164 amino acids; 129767 Da
SUBUNIT: Interacts with TSC2. In the absence of TSC2, TSC1 self- aggregates. Interacts with DOCK7.
SUBCELLULAR LOCATION: Cytoplasm. Membrane; Peripheral membrane protein. Note=At steady state found in association with membranes.
TISSUE SPECIFICITY: Highly expressed in skeletal muscle, followed by heart, brain, placenta, pancreas, lung, liver and kidney. Also expressed in embryonic kidney cells.
DOMAIN:SwissProt: Q92574 The C-terminal putative coiled-coil domain is necessary for interaction with TSC2.
PTM: Phosphorylation at Ser-505 does not affect interaction with TSC2. & Phosphorylated upon DNA damage, probably by ATM or ATR.
DISEASE: SwissProt: Q92574 # Defects in TSC1 are the cause of tuberous sclerosis complex (TSC) [MIM:191100]. The molecular basis of TSC is a functional impairement of the hamartin-tuberin complex. TSC is an autosomal dominant multi-system disorder that affects especially the brain, kidneys, heart, and skin. TSC is characterized by hamartomas (benign overgrowths predominantly of a cell or tissue type that occurs normally in the organ) and hamartias (developmental abnormalities of tissue combination). Clinical symptoms can range from benign hypopigmented macules of the skin to profound mental retardation with intractable seizures to premature death from a variety of disease-associated causes. & Defects in TSC1 may be a cause of focal cortical dysplasia of Taylor balloon cell type (FCDBC) [MIM:607341]. FCDBC is a subtype of cortical displasias linked to chronic intractable epilepsy. Cortical dysplasias display a broad |