UniprotKB/SwissProt ID: Q96EV8 (Q96EV8)
Gene Name:
DTNBP1
Organism: Homo sapiens (Human)
Function: 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
Other Modifications: View all modification sites in dbPTM
Protein Subcellular Localization: Cytoplasm. Cytoplasmic vesicle membrane. Endosome membrane. Melanosome membrane. Postsynaptic density. Endoplasmic reticulum. Nucleus. Cytoplasm. Cytoplasmic vesicle membrane. Cytoplasmic vesicle, secretory vesicle, synaptic vesicle membrane. Endosome membrane. Melanosome membrane. Postsynaptic cell membrane. Endoplasmic reticulum. Nucleus. Cytoplasm. Cytoplasmic vesicle membrane. Cytoplasmic vesicle, secretory vesicle, synaptic vesicle membrane. Endosome membrane. Melanosome membrane. Postsynaptic cell membrane. Endoplasmic reticulum
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