Aliases for DTNBP1 Gene
- Dystrobrevin Binding Protein 1 2 3
- Dysbindin-1 2 3 4
- Biogenesis Of Lysosome-Related Organelles Complex 1 Subunit 8 3 4
- Hermansky-Pudlak Syndrome 7 Protein 3 4
- BLOC-1 Subunit 8 3 4
- BLOC1S8 3 4
- HPS7 3 6
- Biogenesis Of Lysosomal Organelles Complex-1, Subunit 8 3
- Biogenesis Of Lysosomal Organelles Complex-1 2
External Ids for DTNBP1 Gene
This gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. A similar protein in mouse is a component of a protein complex termed biogenesis of lysosome-related organelles complex 1 (BLOC-1), and binds to alpha- and beta-dystrobrevins, which are components of the dystrophin-associated protein complex (DPC). Mutations in this gene are associated with Hermansky-Pudlak syndrome type 7. This gene may also be associated with schizophrenia. Multiple transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
GeneCards Summary for DTNBP1 Gene
DTNBP1 (Dystrobrevin Binding Protein 1) is a Protein Coding gene. Diseases associated with DTNBP1 include hermansky-pudlak syndrome 7 and hermansky-pudlak syndrome. Among its related pathways are Clathrin derived vesicle budding and Clathrin derived vesicle budding. An important paralog of this gene is DBNDD2.
UniProtKB/Swiss-Prot for DTNBP1 Gene
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.