Overview

Description

  • NatureRecombinant
  • SourceE. coli
  • Amino Acid Sequence
    • SpeciesHuman
    • SequenceISDSAPSRRGKRVERDALKSRATASNAEKVPGINPSFVFLQLYHSPFF GDESNKPILLPNESQSFERSVQLLDQIPSYDTHKIAVLYVGEGQSNSE LAILSNEHGSYRYTEFLTGLGRLIELKDCQPDKVYLGGLDVCGEDGQF TYCWHDDIMQAVFHIATLMPTKDVDKHRCDKKRHLGNDFVSIVYNDSG EDFKLGTIKGQFNFVHVIVTPLDYECNLVSLQCRKDMEGLVDTSVAKI VSDRNLPFVARQMALHANMASQVHHSRSNPTDIYPSKWIARLRHIKRL RQRICEEAAYSNPSLPLVHPPSHSKAPAQTPAEPTPGYEVGQ
    • Amino acids1396 to 1725

Specifications

Our Abpromise guarantee covers the use of ab91873 in the following tested applications.

The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.

  • Applications

    SDS-PAGE

    Mass Spectrometry

  • FormLyophilised
  • Additional NotesProtein Identity confirmed by Mass Spectrometry (MS/MS) (acquired on initial reference batch)
  • Concentration information loading...

Preparation and Storage

  • Stability and Storage

    Shipped at 4°C. Upon delivery aliquot and store at -80ºC. Avoid freeze / thaw cycles.

    Preservative: None
    Constituents: 0.5% Trehalose, 6M Urea, 100mM Sodium phosphate, 10mM Sodium chloride, pH 4.5

  • ReconstitutionReconstitute with 78 µl aqua dest.

General info

  • Alternative names
    • FLJ43106
    • LAM
    • OTTHUMP00000158940
    • OTTHUMP00000198394
    • OTTHUMP00000198395
    • TSC2
    • TSC2_HUMAN
    • TSC4
    • Tuberin
    • Tuberous sclerosis 2
    • Tuberous sclerosis 2 protein
    • Tuberous sclerosis 2 protein homolog
    see all
  • FunctionIn 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.
  • Tissue specificityLiver, brain, heart, lymphocytes, fibroblasts, biliary epithelium, pancreas, skeletal muscle, kidney, lung and placenta.
  • Involvement in diseaseDefects in TSC2 are the cause of tuberous sclerosis type 2 (TSC2) [MIM:613254]. TSC2 is 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 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 TSC2 are a cause of lymphangioleiomyomatosis (LAM) [MIM:606690]. LAM is a 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.
  • Sequence similaritiesContains 1 Rap-GAP domain.
  • Post-translational
    modifications
    Phosphorylation at Ser-1387, Ser-1418 or Ser-1420 does not affect interaction with TSC1.
    Phosphorylation at Ser-939 and Thr-1462 by PKB/AKT1 is induced by growth factor stimulation.
  • Cellular localizationCytoplasm. Membrane. At steady state found in association with membranes.
  • Target information above from: UniProt accession P49815 The UniProt Consortium
    The Universal Protein Resource (UniProt) in 2010
    Nucleic Acids Res. 38:D142-D148 (2010) .

    Information by UniProt

Human Tuberin protein fragment images

  • The image shows an electrophoretic assay performed using an Agilent 5100 ALP. In some images coloured control bands can be seen at 15 kDa (green) and/or 240 kDa (purple). The protein-specific band is blue.

References for Human Tuberin protein fragment (ab91873)

ab91873 has not yet been referenced specifically in any publications.

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