Phospho-Tuberin (S939) Polyclonal Antibody, 100µg, (ATB-P0676)

Description

Background:

Mutations in this gene lead to tuberous sclerosis complex. Its gene product is believed to be a tumor suppressor and is able to stimulate specific GTPases. The protein associates with hamartin in a cytosolic complex, possibly acting as a chaperone for hamartin. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]

In complex with TSC1, inhibits the nutrient-mediated or growth factor-stimulated phosphorylation of S6K1 and EIF4EBP1 by negatively regulating mTORC1 signaling. Acts as a GTPase-activating protein (GAP) for the small GTPase RHEB, a direct activator of the protein kinase activity of mTORC1. Implicated as a tumor suppressor. Involved in microtubule-mediated protein transport, but this seems to be due to unregulated mTOR signaling. Stimulates weakly the intrinsic GTPase activity of the Ras-related proteins RAP1A and RAB5 in vitro. Mutations in TSC2 lead to constitutive activation of RAP1A in tumors.

Product datasheet:

Overview
Product Description	Phospho-Tuberin (S939) Polyclonal Antibody, 100µg, (ATB-P0676)
Image
Species Reactivities	Human,Mouse,Rat
Immunogen	Synthesized peptide derived from human Tuberin around the phosphorylation site of S939.
Properties
Form	Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide.
Storage Instructions	-20°C/1 year
Clonality	Polyclonal

References:

1. The analysis of mutations and exon deletions at TSC2 gene in angiomyolipomas associated with tuberous sclerosis complex. Yang HM, et al. Exp Mol Pathol, 2014 Dec. PMID 25281918
2. Severity of manifestations in tuberous sclerosis complex in relation to genotype. Kothare SV, et al. Epilepsia, 2014 Jul. PMID 24917535
3. Regulation of TORC1 in response to amino acid starvation via lysosomal recruitment of TSC2. Demetriades C, et al. Cell, 2014 Feb 13. PMID 24529380 Free PMC Article
4. A novel androgen-regulated isoform of the TSC2 tumour suppressor gene increases cell proliferation. Munkley J, et al. Oncotarget, 2014 Jan 15. PMID 24318044 Free PMC Article
5. Sun exposure causes somatic second-hit mutations and angiofibroma development in tuberous sclerosis complex. Tyburczy ME, et al. Hum Mol Genet, 2014 Apr 15. PMID 24271014
6. Identification and characterization of the tuberous sclerosis gene on chromosome 16.
   The European chromosome 16 tuberous sclerosis consortium
   Nellist M., Janssen B., Brook-Carter P.T., Hesseling-Janssen A.L.W., Maheshwar M.M., Verhoef S., van den Ouweland A.M.W., Lindhout D., Eussen B., Cordeiro I., Santos H., Halley D.J.J., Sampson J.R., Ward C.J., Peral B., Thomas S., Hughes J., Harris P.C.
   , Roelfsema J.H., Saris J.J., Spruit L., Peters D.J.M., Dauwerse J.G., Breuning M.H.
   Cell 75:1305-1315(1993) [PubMed] [Europe PMC]

   Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANT ARG-802. Tissue: Brain.

7. Sampson J.R.
   Submitted (DEC-1998) to the EMBL/GenBank/DDBJ databasesCited for: SEQUENCE REVISION.
8. Alternative splicing of the tuberous sclerosis 2 (TSC2) gene in human and mouse tissues.
   Xu L., Sterner C., Maheshwar M.M., Wilson P.J., Nellist M., Short M.P., Haines J.L., Sampson J.R., Ramesh V.
   Genomics 27:475-480(1995) [PubMed] [Europe PMC] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], ALTERNATIVE SPLICING (ISOFORMS 1; 2 AND 3).
9. Comparative analysis and genomic structure of the tuberous sclerosis 2 (TSC2) gene in human and pufferfish.
   Maheshwar M.M., Sandford R., Nellist M., Cheadle J.P., Sgotto B., Vaudin M., Sampson J.R.
   Hum. Mol. Genet. 5:131-137(1996) [PubMed] [Europe PMC] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS THR-94; PHE-320; PHE-619 AND ARG-802.
10. Protein interaction network of alternatively spliced isoforms from brain links genetic risk factors for autism.
    Corominas R., Yang X., Lin G.N., Kang S., Shen Y., Ghamsari L., Broly M., Rodriguez M., Tam S., Wanamaker S.A., Fan C., Yi S., Tasan M., Lemmens I., Kuang X., Zhao N., Malhotra D., Michaelson J.J.
    , Vacic V., Calderwood M.A., Roth F.P., Tavernier J., Horvath S., Salehi-Ashtiani K., Korkin D., Sebat J., Hill D.E., Hao T., Vidal M., Iakoucheva L.M.
    Nat. Commun. 5:3650-3650(2014) [PubMed] [Europe PMC]

    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 8). Tissue: Brain.