Dystrobrevin-Binding Protein 1 Isoform C Recombinant Protein | DTNBP1 recombinant protein
Recombinant Human Dystrobrevin-Binding Protein 1 Isoform C
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Introduction: DTNBP1 is involved in organelle biogenesis connected with melanosomes, platelet dense granules, and lysosomes. An analogous protein in murine is a part of a protein complex called BLOC-1, and connects to alpha- and beta-dystrobrevins, which are factors of the dystrophin-associated protein complex (DPC). Mutations in DTNBP1 gene are associated with Hermansky-Pudlak syndrome type 7. DTNBP1 gene may also be associated with schizophrenia.
NCBI and Uniprot Product Information
NCBI Description
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]
Uniprot Description
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.
Protein type: Vesicle
Chromosomal Location of Human Ortholog: 6p22.3
Cellular Component: endoplasmic reticulum membrane; neuron projection; synaptic vesicle membrane; melanosome membrane; postsynaptic density; dendritic spine; cytosol; postsynaptic membrane; growth cone; axon; cytoplasm; endosome membrane; cell junction; sarcoplasm; nucleus; sarcolemma
Molecular Function: protein binding
Biological Process: platelet dense granule organization and biogenesis; melanosome organization and biogenesis; regulation of dopamine receptor signaling pathway; anterograde synaptic vesicle transport; actin cytoskeleton reorganization; post-Golgi vesicle-mediated transport; blood coagulation; anterograde axon cargo transport; regulation of dopamine secretion; positive regulation of neurotransmitter secretion; neurite development; neurite morphogenesis
Disease: Schizophrenia; Hermansky-pudlak Syndrome 7
Research Articles on DTNBP1
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Product Notes
The DTNBP1 dtnbp1 (Catalog #AAA143723) is a Recombinant Protein produced from E Coli and is intended for research purposes only. The product is available for immediate purchase. The amino acid sequence is listed below: MRGSHHH HHH GMASMTGGQQ MGRDLYDDDD KDRWGSHMLS AHWEKKKTSL VELQEQLQQL PALIADLESM TANLTHLEAS FEEVENNLLH LEDLCGQCEL ERCKHMQSQQ LENYKKNKRK ELETFKAELD AEHAQKVLEM EHTQQMKLKE RQKFFEEAFQ QDMEQYLSTG YLQIAERREP IGSMSSMEVN VDMLEQMDLM DISDQEALDV FLNSGGEENT VLSPALGPES STCQNEITLQ VPNPSELRAK PPSSSSTCTD SATRDISEGG ESPVVQSDEE EVQVDTALAT SHTDREATPD GGEDSDS. It is sometimes possible for the material contained within the vial of "Dystrobrevin-Binding Protein 1 Isoform C, Recombinant Protein" to become dispersed throughout the inside of the vial, particularly around the seal of said vial, during shipment and storage. We always suggest centrifuging these vials to consolidate all of the liquid away from the lid and to the bottom of the vial prior to opening. Please be advised that certain products may require dry ice for shipping and that, if this is the case, an additional dry ice fee may also be required.Precautions
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