Rabbit DTNBP1 Antibody | anti-DTNBP1 antibody

DTNBP1 Antibody

Cat. Num. AAA8505694

• Gene Names: DTNBP1; SDY; DBND; HPS7; My031; BLOC1S8
• Reactivity: Human, Mouse, Rat
• Applications: Western Blot, Immunohistochemistry
• Purity: Affinity purification
• Synonyms: DTNBP1; DTNBP1 Antibody; DBND; DKFZp564K192; FLJ30031; HPS7; MGC20210; My031; SD; anti-DTNBP1 antibody

• Host: Rabbit
• Reactivity: Human, Mouse, Rat
• Isotype: IgG
• Purity/Purification: Affinity purification
• Sequence Length: 270

• Applicable Applications for anti-DTNBP1 antibody: Western Blot (WB), Immunohistochemistry (IHC)
• Application Notes: WB: 1:500-1:2000; IHC: 1:50-1:200
• Immunogen: Recombinant protein of human DTNBP1
• Storage Buffer: PBS with 0.02% sodium azide, 50% glycerol, pH7.3.
• Preparation and Storage: Store at-20 degree C or-80 degree C. Avoid freeze/thaw cycles.

Testing Data

(Western blot analysis of extracts of various celllines, using DTNBP1 antibody.)

Related Product Information for anti-DTNBP1 antibody

Dysbindin, or dystrobrevin-binding protein 1, is a coiled-coil-containing protein expressed in muscle and brain that was identified as a binding partner of dystrobrevin (1). Dysbindin upregulates expression of the pre-synaptic proteins SNAP25 and synapsin I, thereby increasing glutamate release and promoting neuronal viability through Akt signaling. In particular, Akt phosphorylation is suppressed with downregulation of dysbindin and increased with upregulation of dysbindin (2). A nonsense mutation of dysbindin causes Hermansky-Pudlak disease, an autosomal recessive disorder characterized by lysosomal storage defects and prolonged bleeding. (2). Genetic variation in the gene encoding dysbindin is strongly associated with schizophrenia and protein levels are reduced in the prefrontal cortex, midbrain and hippocampus of brains from patients with schizophrenia (3, 4).

Product Categories/Family for anti-DTNBP1 antibody

Autophagy antibody; Cancer; Cardiovascular; Cell Biology; Epigenetics & Nuclear Signaling; Developmental Biologys; Immunology; Drug Discovery Products; Metabolism; Neuroscience; Signal Transduction; Stem Cells

References

1. Benson, M.A. et al. (2001) J Biol Chem 276, 24232-41. 2. Numakawa, T. et al. (2004) Hum Mol Genet 13, 2699-708. 3. Straub, R.E. et al. (2002) Am J Hum Genet 71, 337-48. 4. Talbot, K. et al. (2004) J Clin Invest 113, 1353-63.

NCBI and Uniprot Product Information

• NCBI GI #: 410651504
• NCBI GeneID: 84062
• NCBI Accession #: NP_001258596.1
• NCBI GenBank Nucleotide #: NM_001271667.1
• UniProt Accession #: Q96EV8; Q5THY3; Q5THY4; Q96NV2; Q9H0U2; Q9H3J5; A8K3V3
• Molecular Weight: 39kDa
• NCBI Official Full Name: dysbindin isoform C
• NCBI Official 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
• Protein Family: Dysbindin
• UniProt Gene Name: DTNBP1
• UniProt Synonym Gene Names: BLOC1S8; BLOC-1 subunit 8; HPS7 protein

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

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.