| Tissue Specificity | Detected in brain, in neurons and in neuropil. Isoform 1 is expressed in the cerebral cortex, and hippocampal frontal (HF). Specific expression in the posterior half of the superior temporal gyrus (pSTG). Higher expression of isoform 2 and 3 in the HF than in the pSTG while isoform 1 shows no difference in expression in these areas. In the HF, detected in dentate gyrus (DG) and in pyramidal cells of hippocampus CA2 and CA3 (at protein level). Expressed in all principal neuronal populations of the HF, namely pyramidal neurons in the subiculum and CA1-3, granule cells in the dense cell layer of the DG (DGg), and polymorph cells in the hilus of the DG (DGh). Maximal levels in CA2, CA3, and DGh. Isoform 2 not expressed in the cerebral cortex. |
| Post Translational Modifications | Ubiquitinated by TRIM32. Ubiquitination leads to DTNBP1 degradation. Isoforms 1 and 2 highly phosphorylated by PRKDC in vitro. Isoform 3 only weakly phosphorylated by PRKDC in vitro. |
| 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. |
| Protein Name | DysbindinBiogenesis Of Lysosome-Related Organelles Complex 1 Subunit 8Bloc-1 Subunit 8Dysbindin-1Dystrobrevin-Binding Protein 1Hermansky-Pudlak Syndrome 7 ProteinHps7 Protein |
| Database Links | Reactome: R-HSA-432722 |
| Cellular Localisation | Isoform 1: CytoplasmCytoplasmic Vesicle MembranePeripheral Membrane ProteinCytoplasmic SideEndosome MembraneMelanosome MembranePostsynaptic DensityEndoplasmic ReticulumNucleusMainly Cytoplasmic But Shuttles Between The Cytoplasm And NucleusExported Out Of The Nucleus Via Its Nes In A Xpo1-Dependent MannerNuclear Localization Is Required For Regulation Of The Expression Of Genes Such As Syn1Detected In Neuron Cell BodiesAxons And DendritesMainly Located To The Postsynaptic DensityDetected At Tubulovesicular Elements In The Vicinity Of The Golgi Apparatus And Of MelanosomesOccasionally Detected At The Membrane Of Pigmented Melanosomes In Cultured Melanoma CellsThe Bloc-1 Complex Associates With The Bloc-2 Complex In Early Endosome-Associated TubulesIsoform 2: CytoplasmCytoplasmic VesicleSecretory VesicleSynaptic Vesicle MembranePostsynaptic Cell MembraneShuttles Between The Cytoplasm And NucleusMainly Expressed In The Dendritic SpinePredominantly A Synaptic Vesicle Isoform But Also Highly Expressed In The NucleusAssociated With The Ap-3 Complex At Presynaptic TerminalsIsoform 3: CytoplasmExclusivley CytoplasmicPredominantly Found In The Postsynaptic Density (Psd)Little Association With Synaptic Vesicles |
| Alternative Protein Names | Dysbindin proteinBiogenesis Of Lysosome-Related Organelles Complex 1 Subunit 8 proteinBloc-1 Subunit 8 proteinDysbindin-1 proteinDystrobrevin-Binding Protein 1 proteinHermansky-Pudlak Syndrome 7 Protein proteinHps7 Protein proteinDTNBP1 proteinBLOC1S8 proteinMy031 protein |
Information sourced from Uniprot.org
