Mouse Anti-TSC1 Recombinant Antibody (CBFYH-2818) (CBMAB-H3885-FY)

TSC complex subunit 1

This gene encodes a growth inhibitory protein thought to play a role in the stabilization of tuberin. Mutations in this gene have been associated with tuberous sclerosis. Alternative splicing results in multiple transcript variants.

TSC Complex Subunit 1; Tuberous Sclerosis 1 Protein; Hamartin; TSC; Tuberous Sclerosis 1; Tumor Suppressor; KIAA0243; LAM

In complex with TSC2, inhibits the nutrient-mediated or growth factor-stimulated phosphorylation of S6K1 and EIF4EBP1 by negatively regulating mTORC1 signaling (PubMed:12271141, PubMed:28215400).
Seems not to be required for TSC2 GAP activity towards RHEB (PubMed:15340059).
Implicated as a tumor suppressor. Involved in microtubule-mediated protein transport, but this seems to be due to unregulated mTOR signaling (By similarity).
Acts as a co-chaperone for HSP90AA1 facilitating HSP90AA1 chaperoning of protein clients such as kinases, TSC2 and glucocorticoid receptor NR3C1 (PubMed:29127155).
Increases ATP binding to HSP90AA1 and inhibits HSP90AA1 ATPase activity (PubMed:29127155).
Competes with the activating co-chaperone AHSA1 for binding to HSP90AA1, thereby providing a reciprocal regulatory mechanism for chaperoning of client proteins (PubMed:29127155).
Recruits TSC2 to HSP90AA1 and stabilizes TSC2 by preventing the interaction between TSC2 and ubiquitin ligase HERC1 (PubMed:16464865, PubMed:29127155).

Biological Process activation of GTPase activity Source:UniProtKB1 Publication
Biological Process adaptive immune response Source:Ensembl
Biological Process adult locomotory behavior Source:ParkinsonsUK-UCL
Biological Process associative learning Source:Ensembl
Biological Process cardiac muscle cell differentiation Source:Ensembl
Biological Process cell population proliferation Source:Ensembl
Biological Process cell projection organization Source:Ensembl
Biological Process cell-matrix adhesion Source:UniProtKB1 Publication
Biological Process cellular response to oxygen-glucose deprivation Source:ParkinsonsUK-UCL
Biological Process cerebral cortex development Source:Ensembl
Biological Process glucose import Source:Ensembl
Biological Process hippocampus development Source:Ensembl
Biological Process kidney development Source:Ensembl
Biological Process memory T cell differentiation Source:Ensembl
Biological Process myelination Source:Ensembl
Biological Process negative regulation of ATP-dependent activity Source:UniProtKB1 Publication
Biological Process negative regulation of cell population proliferation Source:UniProtKB1 Publication
Biological Process negative regulation of cell size Source:Ensembl
Biological Process negative regulation of GTPase activity Source:Ensembl
Biological Process negative regulation of macroautophagy Source:ParkinsonsUK-UCL
Biological Process negative regulation of neuron projection development Source:Ensembl
Biological Process negative regulation of oxidative stress-induced neuron death Source:Ensembl
Biological Process negative regulation of TOR signaling Source:ComplexPortal1 Publication
Biological Process negative regulation of translation Source:UniProtKB1 Publication
Biological Process neural tube closure Source:Ensembl
Biological Process positive regulation of focal adhesion assembly Source:UniProtKB1 Publication
Biological Process positive regulation of macroautophagy Source:Ensembl
Biological Process positive regulation of stress fiber assembly Source:Ensembl
Biological Process potassium ion transport Source:Ensembl
Biological Process protein stabilization Source:UniProtKB1 Publication
Biological Process regulation of cell cycle Source:GO_Central1 Publication
Biological Process regulation of cell-matrix adhesion Source:UniProtKB1 Publication
Biological Process regulation of neuron death Source:ParkinsonsUK-UCL
Biological Process regulation of phosphoprotein phosphatase activity Source:UniProtKB1 Publication
Biological Process regulation of protein kinase activity Source:Ensembl
Biological Process regulation of stress fiber assembly Source:UniProtKB1 Publication
Biological Process regulation of translation Source:UniProtKB1 Publication
Biological Process response to insulin Source:UniProtKB1 Publication
Biological Process rRNA export from nucleus Source:UniProtKB1 Publication
Biological Process synapse organization Source:Ensembl

Cytoplasm
Membrane
At steady state found in association with membranes.

Tuberous sclerosis 1 (TSC1):
An autosomal dominant multi-system disorder that affects especially the brain, kidneys, heart, and skin. It 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 manifestations include epilepsy, learning difficulties, behavioral problems, and skin lesions. Seizures can be intractable and premature death can occur from a variety of disease-associated causes.
Lymphangioleiomyomatosis (LAM):
Progressive and often fatal lung disease characterized by a diffuse proliferation of abnormal smooth muscle cells in the lungs. It affects almost exclusively young women and can occur as an isolated disorder or in association with tuberous sclerosis complex.
Focal cortical dysplasia 2 (FCORD2):
A form of focal cortical dysplasia, a malformation of cortical development that results in medically refractory epilepsy in the pediatric population and in adults. FCORD2 is a severe form, with onset usually in childhood, characterized by disrupted cortical lamination and specific cytological abnormalities. It is classified in 2 subtypes: type IIA characterized by dysmorphic neurons and lack of balloon cells; type IIB with dysmorphic neurons and balloon cells.

Phosphorylation at Ser-505 does not affect interaction with TSC2.