Description

Associated products

Specifications

Our Abpromise guarantee covers the use of ab231504 in the following tested applications.

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

  • Applications

    Blocking - Blocking peptide for Anti-Dysbindin antibody [EPR7041] (ab133652)

  • Form

    Lyophilised
  • Additional notes

    - First try to dissolve a small amount of peptide in either water or buffer. The more charged residues on a peptide, the more soluble it is in aqueous solutions.

    - If the peptide doesn’t dissolve try an organic solvent e.g. DMSO, then dilute using water or buffer.

    - Consider that any solvent used must be compatible with your assay. If a peptide does not dissolve and you need to recover it, lyophilise to remove the solvent.

    - Gentle warming and sonication can effectively aid peptide solubilisation. If the solution is cloudy or has gelled the peptide may be in suspension rather than solubilised.

    - Peptides containing cysteine are easily oxidised, so should be prepared in solution just prior to use.

  • Concentration information loading...

Preparation and Storage

  • Stability and Storage

    Shipped at 4°C. Store at -20°C. Avoid freeze / thaw cycle.

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.
  • Information by UniProt

References

ab231504 has not yet been referenced specifically in any publications.

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