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DTNBP1 / Dysbindin
dystrobrevin binding protein 1
Component of the BLOC-1 complex, a complex that is required for normal biogenesis of lysosome-related organelles (LRO), such as platelet dense granules and melanosomes. In concert with the AP-3 complex, the BLOC-1 complex is required to target membrane protein cargos into vesicles assembled at cell bodies for delivery into neurites and nerve terminals. The BLOC-1 complex, in association with SNARE proteins, is also proposed to be involved in neurite extension. Associates with the BLOC-2 complex to facilitate the transport of TYRP1 independent of AP-3 function. Plays a role in synaptic vesicle trafficking and in neurotransmitter release. Plays a role in the regulation of cell surface exposure of DRD2. May play a role in actin cytoskeleton reorganization and neurite outgrowth. May modulate MAPK8 phosphorylation. Appears to promote neuronal transmission and viability through regulating the expression of SNAP25 and SYN1, modulating PI3-kinase-Akt signaling and influencing glutamatergic release. Regulates the expression of SYN1 through binding to its promoter. Modulates prefrontal cortical activity via the dopamine/D2 pathway.
| Gene Name: | dystrobrevin binding protein 1 |
| Synonyms: | DTNBP1, BLOC1S8, Dystrobrevin binding protein 1, Dystrobrevin-binding protein 1, Dysbindin, Dysbindin-1, HPS7, My031, SDY, DBND, HPS7 protein |
| Target Sequences: | AF394226 AAL46636.1 Q96EV8 |
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