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DTNBP1 The BLOC-1 complex is required for normal biogenesis of lysosome-related organelles, such as platelet dense granules and melanosomes. Plays a role in intracellular vesicle trafficking. Plays a role in synaptic vesicle trafficking and in neurotransmitter release. May be required for normal dopamine homeostasis in the cerebral cortex, hippocampus, and hypothalamus. Plays a role in the regulation of cell surface exposure of DRD2. Contributes to the regulation of dopamine signaling. May play a role in actin cytoskeleton reorganization and neurite outgrowth. May modulate MAPK8 phosphorylation. Part of the biogenesis of lysosome-related organelles complex 1 (BLOC-1). The BLOC-1 complex is composed of BLOC1S1, BLOC1S2, BLOC1S3, DTNBP1, MUTED, PLDN, CNO/cappuccino and SNAPIN. Binds to DTNA and DTNB but may not be a physiological binding partner (PubMed:16980328). Interacts with RNF151 and CMYA5. Identified in a complex with the adapter-related protein complex 3 (AP-3). Interacts with TRIM32, AP3M1 and AP3B2. Identified in a complex with the biogenesis of lysosome-related organelles complex 2 (BLOC-2). Interacts with the DNA-dependent protein kinase complex DNA-PK. Detected in brain, in neurons and in neuropil. Detected in dentate gyrus and in pyramidal cells of hippocampus CA2 and CA3. Belongs to the dysbindin family. 2 isoforms of the human protein are produced by alternative splicing. Note: This description may include information from UniProtKB.
Protein type: Vesicle
Chromosomal Location of Human Ortholog: 6p22.3
Cellular Component: axon; cytoplasm; cytosol; dendritic spine; endoplasmic reticulum membrane; growth cone; microtubule cytoskeleton; midbody; neuron projection; nucleus; postsynaptic density; sarcolemma; synaptic vesicle membrane
Molecular Function: protein binding
Biological Process: actin cytoskeleton reorganization; anterograde axon cargo transport; anterograde synaptic vesicle transport; neurite development; neurite morphogenesis; positive regulation of neurotransmitter secretion; regulation of dopamine receptor signaling pathway; regulation of dopamine secretion
Disease: Hermansky-pudlak Syndrome 7; Schizophrenia
Reference #:  Q96EV8 (UniProtKB)
Alt. Names/Synonyms: DBND; DKFZp564K192; DTBP1; DTNBP1; Dysbindin; Dysbindin-1; dystrobrevin binding protein 1; Dystrobrevin-binding protein 1; FLJ30031; Hermansky-Pudlak syndrome 7 protein; HPS7; HPS7 protein; MGC20210; My031; SDY
Gene Symbols: DTNBP1
Molecular weight: 39,493 Da
Basal Isoelectric point: 4.59  Predict pI for various phosphorylation states
Protein-Specific Antibodies or siRNAs from Cell Signaling Technology® Total Proteins
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Protein Structure Not Found.

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