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Recombinant Human Dysbindin protein (ab87462)

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SDS-PAGE - Recombinant Human Dysbindin protein (ab87462)

    Key features and details

    • Expression system: Escherichia coli
    • Purity: > 95% SDS-PAGE
    • Suitable for: SDS-PAGE

    Description

    • Product name

      Recombinant Human Dysbindin protein
    • Purity

      > 95 % SDS-PAGE.
      Purified using conventional chromatography.
    • Expression system

      Escherichia coli
    • Protein length

      Protein fragment
    • Animal free

      No
    • Nature

      Recombinant
      • Species

        Human
      • Sequence

        MRGSHHHHHH GMASMTGGQQ MGRDLYDDDD KDRWGSHMLS AHWEKKKTSL VELQEQLQQL PALIADLESM TANLTHLEAS FEEVENNLLH LEDLCGQCEL ERCKHMQSQQ LENYKKNKRK ELETFKAELD AEHAQKVLEM EHTQQMKLKE RQKFFEEAFQ QDMEQYLSTG YLQIAERREP IGSMSSMEVN VDMLEQMDLM DISDQEALDV FLNSGGEENT VLSPALGPES STCQNEITLQ VPNPSELRAK PPSSSSTCTD SATRDISEGG ESPVVQSDEE EVQVDTALAT SHTDREATPD GGEDSDS
      • Amino acids

        1 to 270

    Associated products

    • Related Products

      • Anti-6X His tag® antibody [HIS.H8] (ab18184)
      • Anti-6X His tag® antibody [4D11] (ab5000)

    Specifications

    Our Abpromise guarantee covers the use of ab87462 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

    • Form

      Liquid
    • Concentration information loading...

    Preparation and Storage

    • Stability and Storage

      Shipped at 4°C. Store at +4°C short term (1-2 weeks). Upon delivery aliquot. Store at -20°C or -80°C. Avoid freeze / thaw cycle.

      pH: 8.00
      Constituents: 0.0077% DTT, 0.316% Tris HCl, 20% Glycerol (glycerin, glycerine), 0.58% Sodium chloride

    General Info

    • Alternative names

      • DTBP1_HUMAN
      • DTNBP1
      • Dysbindin
      • Dysbindin-1
      • Dystrobrevin binding protein 1
      • Dystrobrevin-binding protein 1
      • Hermansky Pudlak syndrome 7 protein
      • Hermansky-Pudlak syndrome 7 protein
      • HPS7
      • HPS7 protein
      see all
    • Function

      The BLOC-1 complex is required for normal biogenesis of lysosome-related organelles, such as platelet dense granules and melanosomes. Plays a role in intracellular vesicle trafficking. Plays a role in synaptic vesicle trafficking and in neurotransmitter release. May be required for normal dopamine homeostasis in the cerebral cortex, hippocampus, and hypothalamus. Plays a role in the regulation of cell surface exposure of DRD2. Contributes to the regulation of dopamine signaling. May play a role in actin cytoskeleton reorganization and neurite outgrowth. May modulate MAPK8 phosphorylation.
    • Tissue specificity

      Detected in brain, in neurons and in neuropil. Detected in dentate gyrus and in pyramidal cells of hippocampus CA2 and CA3 (at protein level).
    • Involvement in disease

      Defects in DTNBP1 are the cause of Hermansky-Pudlak syndrome type 7 (HPS7) [MIM:203300]. Hermansky-Pudlak syndrome (HPS) is a genetically heterogeneous, rare, autosomal recessive disorder characterized by oculocutaneous albinism, bleeding due to platelet storage pool deficiency, and lysosomal storage defects. This syndrome results from defects of diverse cytoplasmic organelles including melanosomes, platelet dense granules and lysosomes. Ceroid storage in the lungs is associated with pulmonary fibrosis, a common cause of premature death in individuals with HPS.
    • Sequence similarities

      Belongs to the dysbindin family.
    • Post-translational
      modifications

      Ubiquitinated by TRIM32. Ubiquitination leads to DTNBP1 degradation.
      Phosphorylated by PRKDC.
    • Cellular localization

      Cytoplasm. Cytoplasmic vesicle membrane. Cytoplasmic vesicle > secretory vesicle > synaptic vesicle membrane. Endosome membrane. Melanosome membrane. Nucleus. Cell junction > synapse > postsynaptic cell membrane > postsynaptic density. Endoplasmic reticulum. Detected in neuron cell bodies, axons and dendrites. Detected at synapses, at post-synaptic density, at pre-synaptic vesicle membranes and microtubules. Detected at tubulovesicular elements in the vicinity of the Golgi apparatus and of melanosomes. Occasionally detected at the membrane of pigmented melanosomes in cultured melanoma cells.
    • Target information above from: UniProt accession Q96EV8 The UniProt Consortium
      The Universal Protein Resource (UniProt) in 2010
      Nucleic Acids Res. 38:D142-D148 (2010) .

      Information by UniProt

    Images

    • SDS-PAGE - Recombinant Human Dysbindin protein (ab87462)
      SDS-PAGE - Recombinant Human Dysbindin protein (ab87462)
      ab87462 on 15% SDS-PAGE (3µg)

    Protocols

    To our knowledge, customised protocols are not required for this product. Please try the standard protocols listed below and let us know how you get on.

    Click here to view the general protocols

    Datasheets and documents

    • Datasheet
  • References (0)

    Publishing research using ab87462? Please let us know so that we can cite the reference in this datasheet.

    ab87462 has not yet been referenced specifically in any publications.

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