DTNBP1
UniProt ID: Q96EV8
Entrez ID: 84062
Protein name: Dysbindin (Biogenesis of lysosome-related organelles complex 1 subunit 8) (BLOC-1 subunit 8) (Dysbindin-1) (Dystrobrevin-binding protein 1) (Hermansky-Pudlak syndrome 7 protein) (HPS7 protein)
External links: UniprotKB HGNC RefSeq COSMIC
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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 assemble...
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. {ECO:0000269|PubMed:15345706, ECO:0000269|PubMed:16837549, ECO:0000269|PubMed:17182842, ECO:0000269|PubMed:17989303, ECO:0000269|PubMed:19094965, ECO:0000269|PubMed:20180862, ECO:0000269|PubMed:20921223}.
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GO - Biological processes (BP):
actin cytoskeleton reorganization [GO:0031532]; anterograde axonal transport [GO:0008089]; anterograde synaptic vesicle transport [GO:0048490]; blood coagulation [GO:0007596]; brain development [GO:0007420]; dendrite morphogenesis [GO:0048813]; melanosome organization [GO:0032438]; negative regulati...
actin cytoskeleton reorganization [GO:0031532]; anterograde axonal transport [GO:0008089]; anterograde synaptic vesicle transport [GO:0048490]; blood coagulation [GO:0007596]; brain development [GO:0007420]; dendrite morphogenesis [GO:0048813]; melanosome organization [GO:0032438]; negative regulation of dendritic spine morphogenesis [GO:0061002]; negative regulation of neuron death [GO:1901215]; negative regulation of protein binding [GO:0032091]; negative regulation of protein kinase activity [GO:0006469]; negative regulation of protein serine/threonine kinase activity [GO:0071901]; neuron projection development [GO:0031175]; neuron projection morphogenesis [GO:0048812]; platelet dense granule organization [GO:0060155]; positive regulation of gene expression [GO:0010628]; positive regulation of glutamate neurotransmitter secretion in response to membrane depolarization [GO:0061646]; positive regulation of neurotransmitter secretion [GO:0001956]; positive regulation of protein phosphorylation [GO:0001934]; positive regulation of receptor internalization [GO:0002092]; regulation of dopamine receptor signaling pathway [GO:0060159]; regulation of dopamine secretion [GO:0014059]; regulation of JUN kinase activity [GO:0043506]; regulation of synaptic vesicle exocytosis [GO:2000300]; retina development in camera-type eye [GO:0060041]
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GO - Molecular function (MF):
...
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GO - Cellular component (CC):
axon [GO:0030424]; axon cytoplasm [GO:1904115]; BLOC-1 complex [GO:0031083]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; dendritic spine [GO:0043197]; endoplasmic reticulum membrane [GO:0005789]; endosome membrane [GO:0010008]; glutamatergic synapse [GO:0098978]; growth cone [GO:0030426]; hippocam...
axon [GO:0030424]; axon cytoplasm [GO:1904115]; BLOC-1 complex [GO:0031083]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; dendritic spine [GO:0043197]; endoplasmic reticulum membrane [GO:0005789]; endosome membrane [GO:0010008]; glutamatergic synapse [GO:0098978]; growth cone [GO:0030426]; hippocampal mossy fiber to CA3 synapse [GO:0098686]; melanosome membrane [GO:0033162]; microtubule cytoskeleton [GO:0015630]; midbody [GO:0030496]; neuronal cell body [GO:0043025]; neuron projection [GO:0043005]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; postsynaptic density [GO:0014069]; postsynaptic membrane [GO:0045211]; sarcolemma [GO:0042383]; sarcoplasm [GO:0016528]; Schaffer collateral - CA1 synapse [GO:0098685]; synaptic vesicle membrane [GO:0030672]
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DTNBP1
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Kaplan plot for DTNBP1 in
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*NOTE: the Kaplan plots were collected from OncoLnc