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Recombinant Human Dysbindin (DTNBP1)

  • 中文名稱：
    人DTNBP1重組蛋白
  • 貨號：
    CSB-YP822207HU
  • 規(guī)格：
  • 來源：
    Yeast
  • 其他：
  • 中文名稱：
    人DTNBP1重組蛋白
  • 貨號：
    CSB-EP822207HU
  • 規(guī)格：
  • 來源：
    E.coli
  • 其他：
  • 中文名稱：
    人DTNBP1重組蛋白
  • 貨號：
    CSB-EP822207HU-B
  • 規(guī)格：
  • 來源：
    E.coli
  • 共軛：
    Avi-tag Biotinylated

    E. coli biotin ligase (BirA) is highly specific in covalently attaching biotin to the 15 amino acid AviTag peptide. This recombinant protein was biotinylated in vivo by AviTag-BirA technology, which method is BriA catalyzes amide linkage between the biotin and the specific lysine of the AviTag.

  • 其他：
  • 中文名稱：
    人DTNBP1重組蛋白
  • 貨號：
    CSB-BP822207HU
  • 規(guī)格：
  • 來源：
    Baculovirus
  • 其他：
  • 中文名稱：
    人DTNBP1重組蛋白
  • 貨號：
    CSB-MP822207HU
  • 規(guī)格：
  • 來源：
    Mammalian cell
  • 其他：

產(chǎn)品詳情

  • 純度：
    >85% (SDS-PAGE)
  • 基因名：
    DTNBP1
  • Uniprot No.：
  • 別名：
    DTBP1_HUMAN; DTNBP1; Dysbindin; Dysbindin-1; Dystrobrevin binding protein 1; Dystrobrevin-binding protein 1; Hermansky Pudlak syndrome 7 protein ; Hermansky-Pudlak syndrome 7 protein; HPS7; HPS7 protein
  • 種屬：
    Homo sapiens (Human)
  • 蛋白長度：
    full length protein
  • 表達區(qū)域：
    1-351
  • 氨基酸序列
    MLETLRERLL SVQQDFTSGL KTLSDKSREA KVKSKPRTVP FLPKYSAGLE LLSRYEDTWA ALHRRAKDCA SAGELVDSEV VMLSAHWEKK KTSLVELQEQ LQQLPALIAD LESMTANLTH LEASFEEVEN NLLHLEDLCG QCELERCKHM QSQQLENYKK NKRKELETFK AELDAEHAQK VLEMEHTQQM KLKERQKFFE EAFQQDMEQY LSTGYLQIAE RREPIGSMSS MEVNVDMLEQ MDLMDISDQE ALDVFLNSGG EENTVLSPAL GPESSTCQNE ITLQVPNPSE LRAKPPSSSS TCTDSATRDI SEGGESPVVQ SDEEEVQVDT ALATSHTDRE ATPDGGEDSD S
  • 蛋白標簽：
    Tag?type?will?be?determined?during?the?manufacturing?process.
    The tag type will be determined during production process. If you have specified tag type, please tell us and we will develop the specified tag preferentially.
  • 產(chǎn)品提供形式：
    Lyophilized powder
    Note: We will preferentially ship the format that we have in stock, however, if you have any special requirement for the format, please remark your requirement when placing the order, we will prepare according to your demand.
  • 復溶：
    We recommend that this vial be briefly centrifuged prior to opening to bring the contents to the bottom. Please reconstitute protein in deionized sterile water to a concentration of 0.1-1.0 mg/mL.We recommend to add 5-50% of glycerol (final concentration) and aliquot for long-term storage at -20℃/-80℃. Our default final concentration of glycerol is 50%. Customers could use it as reference.
  • 儲存條件：
    Store at -20°C/-80°C upon receipt, aliquoting is necessary for mutiple use. Avoid repeated freeze-thaw cycles.
  • 保質(zhì)期：
    The shelf life is related to many factors, storage state, buffer ingredients, storage temperature and the stability of the protein itself.
    Generally, the shelf life of liquid form is 6 months at -20°C/-80°C. The shelf life of lyophilized form is 12 months at -20°C/-80°C.
  • 貨期：
    Delivery time may differ from different purchasing way or location, please kindly consult your local distributors for specific delivery time.
    Note: All of our proteins are default shipped with normal blue ice packs, if you request to ship with dry ice, please communicate with us in advance and extra fees will be charged.
  • 注意事項：
    Repeated freezing and thawing is not recommended. Store working aliquots at 4°C for up to one week.
  • Datasheet ：
    Please contact us to get it.

產(chǎn)品評價

靶點詳情

  • 功能：
    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.
  • 基因功能參考文獻：
    1. Multilevel ex vivo and in vivo analyses in postmortem brains demonstrate that interaction between antipsychotics and dysbindin-1 is mediated by an imbalance between the short and long isoforms of dopamine D2 receptors, leading to enhanced presynaptic D2 function within the prefrontal cortex. PMID: 29891954
    2. Our results suggest that DTNBP1 and NRN1 genes show a joint effect on the risk for schizophrenia spectrum disorders. Although the precise mechanism underlying this effect is unclear, the fact that these genes have been involved in synaptic maturation, connectivity and glutamate signalling suggests that our findings could be of value as a link to the schizophrenia aetiology. PMID: 27855309
    3. Study analyzed human-specific dysbindin-1B expression in multiple brain areas in mouse models and showed that dysbindin-1B exerts a dominant-negative effect on the BLOC-1 complex; this effect may lead to cognitive impairment. PMID: 27421225
    4. This study demonstrated that BDNF and dysbindin-1 linked to risk for schizophrenia function together to regulate interneuron development and cortical network activity. PMID: 26386481
    5. This is the first study to suggest that known and newly described polymorphisms in COMT, BDNF, and DTNBP1, genes associated with executive and memory functions in healthy individuals and other clinical populations may modulate cognitive outcome in patients with brain tumors PMID: 27091610
    6. Data suggest that, in cardiomyocytes, TRIM32 attenuates activation of SRF signaling and hypertrophy due to dysbindin; TRIM24 promotes these effects. TRIM32 promotes dysbindin degradation; TRIM24 protects dysbindin from degradation. (TRIM = tripartite motif-containing protein; SRF = serum response factor) PMID: 28465353
    7. In schizophrenia patients, there was a significant association of the rs909706 polymorphism with attention and a nonsignificant trend for set-shifting. The other SNPs and haplotypes were not associated with cognitive function. PMID: 27798936
    8. Authors report the examination of DNA methylation status of DTNBP1 promoter region, one of the most credible candidate genes affected in SCZ. PMID: 26285059
    9. DTNBP1 is likely to play a role in development of auditory related, visual and olfactory hallucinations PMID: 25697573
    10. dysbindin-1A protein levels are highly regulated in the nucleus and that dysbindin-1A regulates transcription factor NF-kappa B activity to promote the expression of MMP-9 and TNF-alpha PMID: 26171858
    11. Study demonstrated that dysbindin-1B, rather than dysbindin-1A and dysbindin-1C, has the ability to aggregate PMID: 25704251
    12. The present findings intransgenic mice expressing human DTNBP1 support the role of dysbindin-1 in psychiatric disorders. PMID: 25298178
    13. rs3213207 polymorphism may contribute to methamphetamine-induced panic disorder PMID: 25303981
    14. Findings add further evidence suggesting an association between dysbindin gene variability and cognitive abnormalities in schizophrenia. PMID: 25530342
    15. dysbindin-1 formed a protein complex with HDAC3 in human neuroblastoma cells PMID: 25196196
    16. DISC1 forms a complex with dysbindin and increases its stability in association with a reduction in ubiquitylation. PMID: 25635053
    17. In homozygotes and heterozygotes of risk allele (CC) of DTNBP1, there was a trend to volumetric reductions in brain regions, regardless of schizophrenia diagnosis. PMID: 25042954
    18. loss of function mutations in the genes encoding dysbindin and its interacting BLOC-1 subunits PMID: 24713699
    19. These data confirm at the level of mouse working memory and human working memory-associated physiology a genetic interaction between COMT and DTNBP1. PMID: 24145376
    20. Mecp2 regulates the expression of components belonging to the dysbindin interactome PMID: 23750231
    21. Letter/Case Report: report novel HPS7 mutation causing Hermansky-Pudlak syndrome. PMID: 23364359
    22. The results of this study provided significant effects of the DTNBP1 SNP rs2619522 bilaterally in the hippocampus as well as in the anterior middle frontal gyrus and the intraparietal cortex. PMID: 22580710
    23. an allele G of DTNBP1 genes may be considered as a marker for higher CR. PMID: 23612411
    24. study suggests that NMDA receptor-mediated signalling genes, DAO, PPP3CC, DTNBP1 might be involved in schizophrenia pathogenic mechanisms related to gender PMID: 23497497
    25. the involvement of DTNBP1 not only in the development of attention deficit of schizophrenia, but also in the inter-individual variability of this cognitive domain within the normal functional range. PMID: 22911901
    26. Results support a role of DTNBP1 gene variants in the glutamate neurotransmission system in the hippocampus which is compatible with growing evidence of a crucial role of glutamate in the pathobiology of schizophrenia PMID: 22283763
    27. The increased expression of dysbindin might play a role in the pathogenesis of drug-refractory temporal lobe epilepsy. PMID: 22337344
    28. Dysbindin has been implicated in neurite outgrowth and morphology. Impairments in anatomic connectivity as found associated with the minor Dysbindin allele in our study may result in increased risk for schizophrenia due to altered fiber tracts PMID: 22019876
    29. associations between rs2619538 and HVA and 5-5-hydroxyindoleacetic acid concentrations were significant; results suggest genetic variation in DTNBP1 gene affects regulation of dopamine and serotonin turnover in CNS PMID: 21295953
    30. Our results suggest that genetic variation in DTNBP1 is associated with differences in gray and white matter; and that these effects are already evident in children as young as 10-12 years. PMID: 21639861
    31. Dysbindin-1 gene expression in immortalized lymphocytes from patients with schizophrenia PMID: 21512575
    32. Cellular, tissue, and system neurological phenotypes from dysbindin deficiencies individuals affected with schizophrenia, emerge from abnormalities in few core cellular mechanisms controlled by BLOC-1-dysbindin-containing complex. PMID: 21520000
    33. The results of this study provided support for dysbindin (DTNBP1) gene variation, particularly SNPs rs1997679 and rs9370822, to be associated with the clinical phenotype of psychotic depression PMID: 20951386
    34. These findings confirm the role of the dysbindin-1 gene in the risk for functional psychosis and show a differential haplotypic risk pattern in families with early as opposed to adult onset in the affected offspring. PMID: 21305691
    35. This study determined whether synaptic reductions of Dysbindin-1 are isoform-specific. PMID: 21390302
    36. dysbindin haplotype was associated with structural differences in the medial orbitofrontal cortex PMID: 21184829
    37. The results of this study suggested that variability in a noncoding sequence of DTNBP1 contributes to individual differences in emotional working memory. PMID: 20010894
    38. Genetic variation in DTNBP1 modestly influences general cognitive ability. PMID: 21130223
    39. Results showed that these two SNPs in DTNPB1 gene were not related to clinical phenotypes such as melancholia, age at onset, suicidality and co-morbid anxiety disorders. PMID: 20822372
    40. DTNBP1 polymorphic genes are involved in different subprocesses of short-term memory both in normal subjects and in patients with schizophrenia PMID: 20683774
    41. No associations were detected for any of the symptom factors indicating that the dysbindin risk haplotype does not predispose to a particular group of symptoms in schizophrenia PMID: 19760674
    42. Data suggest that DTNBP1 is a good candidate for schizophrenia risk and rs9370822 is either functionally important or in disequilibrium with a functional SNP. PMID: 20615671
    43. Our results identified the impact of DTNBP1 on the development of a specific attention deficit via modulation of a left prefrontal network. PMID: 20846375
    44. the nucleocytoplasmic shuttling of dysbindin-1 regulates synapsin I expression and thus may be involved in the pathogenesis of schizophrenia. PMID: 20921223
    45. This study is the first to report an association of a frequent variant of the DTNBP1 gene (AG/GG of rs2619528) with an electrophysiological measure of prefrontal brain function in patients with schizophrenia. PMID: 20180862
    46. suggests that there is a common underlying molecular defect involving DTNBP1 that contributes to the development of several anxiety and addictive disorders that are generally recognised as separate clinical conditions PMID: 20615259
    47. Results identify a distinct, and potentially widespread function of dysbindin in promoting the sorting of specific GPCRs to lysosomes after endocytosis. PMID: 20174469
    48. To investigate dysbindin function in the brain could shed light on the etiology of schizophrenia and lead us to new hypotheses, novel diagnostic tools, and more effective therapies for the disorder PMID: 20666140
    49. DTNBP1 variations are possibly associated with some symptoms of schizophrenia, which could partly explain the relationship between the susceptibility gene DTNBP1 and that disease PMID: 20598229
    50. This study could not replicate previous association findings between Dysbindin and in schizophrenia one of the largest European samples to date. PMID: 20083391

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  • 相關(guān)疾?。?/div>
    Hermansky-Pudlak syndrome 7 (HPS7)
  • 亞細胞定位：
    [Isoform 1]: Cytoplasm. Cytoplasmic vesicle membrane; Peripheral membrane protein; Cytoplasmic side. Endosome membrane; Peripheral membrane protein; Cytoplasmic side. Melanosome membrane; Peripheral membrane protein; Cytoplasmic side. Cell junction, synapse, postsynaptic density. Endoplasmic reticulum. Nucleus. Note=Mainly cytoplasmic but shuttles between the cytoplasm and nucleus. Exported out of the nucleus via its NES in a XPO1-dependent manner. Nuclear localization is required for regulation of the expression of genes such as SYN1. Detected in neuron cell bodies, axons and dendrites. Mainly located to the postsynaptic density. Detected at tubulovesicular elements in the vicinity of the Golgi apparatus and of melanosomes. Occasionally detected at the membrane of pigmented melanosomes in cultured melanoma cells. The BLOC-1 complex associates with the BLOC-2 complex in early endosome-associated tubules.; [Isoform 2]: Cytoplasm. Cytoplasmic vesicle membrane; Peripheral membrane protein; Cytoplasmic side. Cytoplasmic vesicle, secretory vesicle, synaptic vesicle membrane; Peripheral membrane protein; Cytoplasmic side. Endosome membrane; Peripheral membrane protein; Cytoplasmic side. Melanosome membrane; Peripheral membrane protein; Cytoplasmic side. Cell junction, synapse, postsynaptic cell membrane. Endoplasmic reticulum. Nucleus. Note=Shuttles between the cytoplasm and nucleus. Exported out of the nucleus via its NES in a XPO1-dependent manner. Nuclear localization is required for regulation of the expression of genes such as SYN1. Mainly expressed in the dendritic spine. Predominantly a synaptic vesicle isoform but also highly expressed in the nucleus. The BLOC-1 complex associates with the BLOC-2 complex in early endosome-associated tubules. Associated with the AP-3 complex at presynaptic terminals.; [Isoform 3]: Cytoplasm. Cytoplasmic vesicle membrane; Peripheral membrane protein; Cytoplasmic side. Cytoplasmic vesicle, secretory vesicle, synaptic vesicle membrane; Peripheral membrane protein; Cytoplasmic side. Endosome membrane; Peripheral membrane protein; Cytoplasmic side. Melanosome membrane; Peripheral membrane protein; Cytoplasmic side. Cell junction, synapse, postsynaptic cell membrane. Endoplasmic reticulum. Note=Exclusivley cytoplasmic. Predominantly found in the postsynaptic density (PSD). Little association with synaptic vesicles. The BLOC-1 complex associates with the BLOC-2 complex in early endosome-associated tubules. Associated with the AP-3 complex at presynaptic terminals.
  • 蛋白家族：
    Dysbindin family
  • 組織特異性：
    Detected in brain, in neurons and in neuropil. Isoform 1 is expressed in the cerebral cortex, and hippocampal frontal (HF). Specific expression in the posterior half of the superior temporal gyrus (pSTG). Higher expression of isoform 2 and 3 in the HF tha
  • 數(shù)據(jù)庫鏈接：

    HGNC: 17328

    OMIM: 607145

    KEGG: hsa:84062

    STRING: 9606.ENSP00000341680

    UniGene: Hs.571148