Recombinant Human Hamartin protein (ab152772)

Overview

Description

  • Nature
    Recombinant
  • Source
    Wheat germ
  • Amino Acid Sequence
    • Accession
    • Species
      Human
    • Sequence
      LKKPGHVAEVYLVHLHASVYALFHRLYGMYPCNFVSFLRSHYSMKENLET FEEVVKPMMEHVRIHPELVTGSKDHELDPRRWKRLETHDVVIECAKISLD PTEASYEDG
    • Molecular weight
      38 kDa including tags
    • Amino acids
      166 to 274

Specifications

Our Abpromise guarantee covers the use of ab152772 in the following tested applications.

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

  • Applications

    Western blot

    SDS-PAGE

    ELISA

  • Form
    Liquid
  • Additional notes
    Protein concentration is above or equal to 0.05 µg/µl.
  • Concentration information loading...

Preparation and Storage

  • Stability and Storage

    Shipped on dry ice. Upon delivery aliquot and store at -80ºC. Avoid freeze / thaw cycles.

    pH: 8.00
    Constituents: 0.31% Glutathione, 0.79% Tris HCl

General Info

  • Alternative names
    • Hamartin
    • kiaa0243
    • LAM
    • TSC
    • Tsc1
    • Tsc1 gene
    • TSC1_HUMAN
    • Tuberous sclerosis 1
    • Tuberous sclerosis 1 protein
    • tumor suppressor
    see all
  • Function
    In complex with TSC2, inhibits the nutrient-mediated or growth factor-stimulated phosphorylation of S6K1 and EIF4EBP1 by negatively regulating mTORC1 signaling. Seems not to be required for TSC2 GAP activity towards RHEB. Implicated as a tumor suppressor. Involved in microtubule-mediated protein transport, but this seems to be due to unregulated mTOR signaling.
  • Tissue specificity
    Highly expressed in skeletal muscle, followed by heart, brain, placenta, pancreas, lung, liver and kidney. Also expressed in embryonic kidney cells.
  • Involvement in disease
    Defects in TSC1 are the cause of tuberous sclerosis type 1 (TSC1) [MIM:191100]. It is an autosomal dominant multi-system disorder that affects especially the brain, kidneys, heart, and skin. TS1C 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 spectrum of structural changes, which appear to result from changes in proliferation, migration, differentiation, and apoptosis of neuronal precursors and neurons during cortical development.
  • Domain
    The C-terminal putative coiled-coil domain is necessary for interaction with TSC2.
  • Post-translational
    modifications
    Phosphorylation at Ser-505 does not affect interaction with TSC2. Phosphorylated upon DNA damage, probably by ATM or ATR.
  • Cellular localization
    Cytoplasm. Membrane. At steady state found in association with membranes.
  • Information by UniProt

Images

  • 12.5% SDS-PAGE analysis of ab152772 stained with Coomassie Blue.

References

ab152772 has not yet been referenced specifically in any publications.

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Please note: All products are "FOR RESEARCH USE ONLY AND ARE NOT INTENDED FOR DIAGNOSTIC OR THERAPEUTIC USE"

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