Signal Transduction Antibodies 2
Anti-DTNBP1 Antibody (CAB16581)
- SKU:
- CAB16581
- Product Type:
- Antibody
- Reactivity:
- Human
- Host Species:
- Rabbit
- Isotype:
- IgG
- Antibody Type:
- Polyclonal Antibody
- Research Area:
- Signal Transduction
Description
Antibody Name: | Anti-DTNBP1 Antibody |
Antibody SKU: | CAB16581 |
Antibody Size: | 20uL, 50uL, 100uL |
Application: | WB IHC IF |
Reactivity: | Human |
Host Species: | Rabbit |
Immunogen: | Recombinant fusion protein containing a sequence corresponding to amino acids 1-351 of human DTNBP1 (NP_115498.2). |
Application: | WB IHC IF |
Recommended Dilution: | WB 1:500 - 1:2000 IHC 1:50 - 1:200 IF 1:50 - 1:200 |
Reactivity: | Human |
Positive Samples: |
Immunogen: | Recombinant fusion protein containing a sequence corresponding to amino acids 1-351 of human DTNBP1 (NP_115498.2). |
Purification Method: | Affinity purification |
Storage Buffer: | Store at -20'C. Avoid freeze / thaw cycles. Buffer: PBS with 0.02% sodium azide, 50% glycerol, pH7.3. |
Isotype: | IgG |
Sequence: | MLET LRER LLSV QQDF TSGL KTLS DKSR EAKV KSKP RTVP FLPK YSAG LELL SRYE DTWA ALHR RAKD CASA GELV DSEV VMLS AHWE KKKT SLVE LQEQ LQQL PALI ADLE SMTA NLTH LEAS FEEV ENNL LHLE DLCG QCEL ERCK HMQS QQLE NYKK NKRK ELET FKAE LDAE HAQK VLEM EHTQ QMKL KERQ KFFE EAFQ QDME QYLS TGYL QIAE RREP IGSM SSME VNVD MLEQ MDLM DISD QEAL DVFL NSGG EENT VLSP ALGP ESST CQNE ITLQ VPNP SELR AKPP SSSS TCTD SATR DISE GGES PVVQ SDEE EVQV DTAL ATSH TDRE ATPD GGED SDS |
Gene ID: | 84062 |
Uniprot: | Q96EV8 |
Cellular Location: | Cell junction, Cytoplasm, Cytoplasmic side, Cytoplasmic vesicle, Cytoplasmic vesicle membrane, Endoplasmic reticulum, Endosome membrane, Melanosome membrane, Nucleus, Nucleus, Peripheral membrane protein, postsynaptic cell membrane, postsynaptic density, secretory ves |
Calculated MW: | 30kDa/34kDa/39kDa |
Observed MW: | Refer to figures |
Synonyms: | DTNBP1, BLOC1S8, DBND, HPS7, My031, SDY, dysbindin |
Background: | 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. |
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 |