Human DTNBP1 Recombinant Protein (RPPB3378)

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SKU:
RPPB3378
Product Type:
Recombinant Protein
Species:
Human
Uniprot:
Q96EV8

Description

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Product Name:Human DTNBP1 Recombinant Protein
Product Code:RPPB3378
Size:20µg
Species:Human
Target:DTNBP1
Synonyms:Dysbindin, SDY, DBND, HPS7, My031, FLJ30031, MGC20210, DKFZp564K192, Dystrobrevin-binding protein 1, Hermansky-Pudlak syndrome 7 protein homolog, Hps7-like protein, DTNBP1.
Source:Escherichia Coli
Physical Appearance:Sterile Filtered colorless solution.
Formulation:The DTNBP1 solution contains 20mM Tris pH-8, 0.5mM DTT, 0.1M NaCl, and 20% glycerol.
Stability:Store at 4°C if entire vial will be used within 2-4 weeks. Store, frozen at -20°C for longer periods of time.�For long term storage it is recommended to add a carrier protein (0.1% HSA or BSA).Avoid multiple freeze-thaw cycles.
Purity:Greater than 95.0% as determined by SDS-PAGE.
Amino Acid Sequence:MRGSHHHHHH GMASMTGGQQ MGRDLYDDDD KDRWGSHMLS AHWEKKKTSL VELQEQLQQL PALIADLESM TANLTHLEAS FEEVENNLLHLEDLCGQCEL ERCKHMQSQQ LENYKKNKRK ELETFKAELD AEHAQKVLEM EHTQQMKLKE RQKFFEEAFQ QDMEQYLSTG YLQIAERREP IGSMSSMEVN VDMLEQMDLM DISDQEALDV FLNSGGEENT VLSPALGPES STCQNEITLQ VPNPSELRAK PPSSSSTCTD SATRDISEGG ESPVVQSDEE EVQVDTALAT SHTDREATPD GGEDSDS

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.

DTNBP1 Human Recombinant fused to 37 a.a. N-terminal His-Tag produced in E.Coli is a single, non-glycosylated polypeptide chain containing 307 amino acids (1-270a.a.) and having a molecular mass of 34.6 kDa.

UniProt Protein Function: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.
UniProt Protein Details:

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; nucleus; sarcoplasm; cell junction; sarcolemma

Molecular Function:protein binding

Biological Process: platelet dense granule organization and biogenesis; melanosome organization and biogenesis; regulation of dopamine receptor signaling pathway; actin cytoskeleton reorganization; anterograde synaptic vesicle transport; post-Golgi vesicle-mediated transport; blood coagulation; anterograde axon cargo transport; positive regulation of neurotransmitter secretion; regulation of dopamine secretion; neurite development; neurite morphogenesis

Disease: Schizophrenia; Hermansky-pudlak Syndrome 7

NCBI Summary: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 Code:Q96EV8
NCBI GenInfo Identifier:38604971
NCBI Gene ID:84062
NCBI Accession:Q96EV8.1
UniProt Related Accession:Q96EV8
Molecular Weight:30kDa; 34kDa; 39kDa
NCBI Full Name:Dysbindin
NCBI Synonym Full Names:dystrobrevin binding protein 1
NCBI Official Symbol:DTNBP1��
NCBI Official Synonym Symbols:SDY; DBND; HPS7; My031; BLOC1S8��
NCBI Protein Information:dysbindin
UniProt Protein Name:Dysbindin
UniProt Synonym Protein Names: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
Protein Family:Dysbindin
UniProt Gene Name:DTNBP1��
UniProt Entry Name:DTBP1_HUMAN
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