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  4. Recombinant Human Inositol polyphosphate 5-phosphatase OCRL (OCRL), partial

Recombinant Human Inositol polyphosphate 5-phosphatase OCRL (OCRL), partial

  • 中文名稱：
    人OCRL重組蛋白
  • 貨號：
    CSB-YP016267HU
  • 規(guī)格：
  • 來源：
    Yeast
  • 其他：
  • 中文名稱：
    人OCRL重組蛋白
  • 貨號：
    CSB-EP016267HU
  • 規(guī)格：
  • 來源：
    E.coli
  • 其他：
  • 中文名稱：
    人OCRL重組蛋白
  • 貨號：
    CSB-EP016267HU-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OCRL重組蛋白
  • 貨號：
    CSB-BP016267HU
  • 規(guī)格：
  • 來源：
    Baculovirus
  • 其他：
  • 中文名稱：
    人OCRL重組蛋白
  • 貨號：
    CSB-MP016267HU
  • 規(guī)格：
  • 來源：
    Mammalian cell
  • 其他：

產(chǎn)品詳情

  • 純度：
    >85% (SDS-PAGE)
  • 基因名：
  • Uniprot No.：
  • 別名：
    EC 3.1.3.36; Inositol polyphosphate 5 phosphatase OCRL 1; Inositol polyphosphate 5 phosphatase OCRL1; Inositol polyphosphate 5-phosphatase OCRL-1; INPP5F; LOCR ; Lowe oculocerebrorenal syndrome protein; NPHL2; OCRL 1; OCRL; OCRL_HUMAN; OCRL1; Oculocerebrorenal syndrome of Lowe; Phosphatidylinositol polyphosphate 5 phosphatase
  • 種屬：
    Homo sapiens (Human)
  • 蛋白長度：
    Partial
  • 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(fù)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：
    Catalyzes the hydrolysis of the 5-position phosphate of phosphatidylinositol 4,5-bisphosphate (PtdIns(4,5)P2) and phosphatidylinositol-3,4,5-bisphosphate (PtdIns(3,4,5)P3), with the greatest catalytic activity towards PtdIns(4,5)P2. Able also to hydrolyze the 5-phosphate of inositol 1,4,5-trisphosphate and of inositol 1,3,4,5-tetrakisphosphate. Regulates traffic in the endosomal pathway by regulating the specific pool of phosphatidylinositol 4,5-bisphosphate that is associated with endosomes. Involved in primary cilia assembly. Acts as a regulator of phagocytosis, hydrolyzing PtdIns(4,5)P2 to promote phagosome closure, through attenuation of PI3K signaling.
  • 基因功能參考文獻：
    1. Study has identified two novel mutations in two unrelated Lowe syndrome patients with congenital glaucoma. Novel deletion mutations are detected at c.739-742delAAAG in Lowe patient 1 and c.1595-1631del in Lowe patient 2. PMID: 28473699
    2. OCRL mutation is associated with progressive chronic kidney disease. PMID: 27708066
    3. loss of OCRL results in abnormal distribution of PI(4,5)P2 in the proximal regions of cilia. PMID: 28871046
    4. patients with OCRL-1 mutations or type 1 Dent disease showed abnormally low levels of urinary A-megalin PMID: 27766457
    5. OCRL1 gene mutation is responsible in the development od Lowe syndrome in Chinese families. PMID: 27059748
    6. docrl ( phosphatidylinositol-5-phosphatase OCRL)regulation of endosomal traffic maintains hemocytes in a poised, but quiescent state, suggesting mechanisms by which endosomal misregulation of signaling may contribute to symptoms of Lowe syndrome PMID: 29028801
    7. We discuss how studies of OCRL have led to important discoveries about the basic mechanisms of membrane trafficking and describe the key features and limitations of the currently available animal models of Lowe syndrome. Mutations in OCRL can also give rise to a milder pathology, Dent disease 2, which is characterized by renal Fanconi syndrome in the absence of extrarenal pathologies. PMID: 28669993
    8. A diagnosis of Dent disease was established in 19 boys from 16 families by the presence of loss of function/deleterious mutations in CLCN5 or OCRL1. PMID: 27174143
    9. Depleting or inhibiting OCRL leads to an accumulation of lysosomal PtdIns(4,5)P2, an inhibitor of the calcium channel mucolipin-1 that controls autophagosome-lysosome fusion PMID: 27398910
    10. Here we show that OCRL1 is part of the membrane-trafficking machinery operating at the trans-Golgi network (TGN)/endosome interface. PMID: 26510499
    11. Authors propose that the precise spatial and temporal activation of Rab35 acts as a major switch for OCRL recruitment on newborn endosomes, post-scission PtdIns(4,5)P2 hydrolysis, and subsequent endosomal trafficking. PMID: 26725203
    12. OCRL mRNA and protein were downregulated in osteoarthritis knee cartilage. OCRL inhibits Rac1 activation in OA. PMID: 25917196
    13. OCRL-mutated fibroblasts from patients with Dent-2 disease exhibit INPP5B-independent phenotypic variability relatively to Lowe syndrome cells. PMID: 25305077
    14. Results indicate that inositol 5-phosphatase OCRL acts as an uncoating factor and that defects in clathrin-mediated endocytosis likely contribute to pathology in patients with OCRL mutations. PMID: 25107275
    15. The crystal structures of human OCRL in complex with phosphoinositide substrate analogs revealed a membrane interaction patch likely to assist in sequestering substrates from the lipid bilayer. PMID: 24704254
    16. Implications of OCRL and TRPV4 in primary cilia function may also shed light on mechanosensation in other organ systems. PMID: 25143588
    17. Dent disease is caused by mutations in at least two genes, i.e. CLCN5 and OCRL1, and its genetic background and phenotypes are common among European countries and the USA. PMID: 24081861
    18. Three Chinese children were diagnosed with Lowe syndrome through clinical and genetic analyses. And two novel mutations in the OCRL gene were identified PMID: 23389333
    19. a role of OCRL in cilia maintenance and suggest the involvement of ciliary dysfunction in the manifestation of Lowe syndrome. PMID: 22543976
    20. The 5-phosphatase OCRL mediates retrograde transport of the mannose 6-phosphate receptor by regulating a Rac1-cofilin signalling module. PMID: 22907655
    21. This article reviewes biophysical and structural work and discuss possible functional implications of the finding that Rab8 binds with the highest affinity to OCRL1 among the Rab proteins tested.[review] PMID: 22790198
    22. In our study of 187 probands with autism, we have identified a duplication in Xq25 including full gene duplication of OCRL and six flanking genes. PMID: 22965764
    23. Bcl10 was required to locally deliver the vesicular OCRL phosphatase that regulates PI(4,5)P(2) and F-actin turnover, both crucial for the completion of phagosome closure. PMID: 23153494
    24. All seven Dent-causing OCRL mutations examined exhibited alleviation of the inhibitory effect on TRPV6-mediated Ca(2+) transport. PMID: 22378746
    25. A recurrent OCRL nonsense mutation was found to be the pathogenic mutation in a Chinese family with Lowe syndrome. PMID: 22177125
    26. Through its phosphatase activity, OCRL restricts Listeria monocytogenes invasion by modulating actin dynamics at bacterial internalization sites. PMID: 22351770
    27. Lowe syndrome displays characteristics of a ciliopathy; findings reveal a novel cellular role for Ocrl1 in cilia assembly -- Ocrl1 participates in ciliogenesis by contributing to protein trafficking to this organelle in an Rab8/IPIP27-dependent manner PMID: 22228094
    28. Novel nonsense mutation (c.880G>T) in exon 10 and the novel insertion mutation (c.2626dupA) in exon 24 of the OCRL1 gene lead to Lowe syndrome in two Chinese families. PMID: 21854507
    29. A role of OCRL1 in junctions of polarized cells may explain the pattern of organs affected in Lowe Syndrome. PMID: 21901156
    30. via its 5-phosphatase activity, OCRL controls early endosome function. PMID: 21971085
    31. the phosphatidylinositol-4,5-bisphosphate (PtdIns(4,5)P2) 5-phosphatase OCRL, which is mutated in Lowe syndrome patients, is an effector of the Rab35 GTPase in cytokinesis abscission PMID: 21706022
    32. The phenylalanine and histidine (F&H) motif binding site on the RhoGAP domain of OCRL was identified. PMID: 21666675
    33. From Lowe syndrome to Dent disease: correlations between mutations of the OCRL1 gene and clinical and biochemical phenotypes PMID: 21031565
    34. These data suggest that the mutations observed in OCRL are the result of two de novo events in early embryogenesis of the mother. PMID: 21225285
    35. OCRL1 mutation is associated with Lowe syndrome. PMID: 21378754
    36. Two novel OCRL1-binding proteins, termed inositol polyphosphate phosphatase interacting protein of 27 kDa (IPIP27)A and B (also known as Ses1 and 2), that also bind the related 5-phosphatase Inpp5b, were identified. PMID: 21233288
    37. children with OCRL mutations may present with very mild phenotype (asymptomatic proteinuria with/without mild mental retardation) or severe classic oculocerebrorenal syndrome of Lowe PMID: 21249396
    38. evidence for link between OCRL mutations and primary haemostasis disorders in Lowe syndrome; findings suggests that an aberrant RhoA pathway in platelets contributes to CT prolongation and primary haemostasis disorders in Lowe syndrome PMID: 20629659
    39. This multiplex ligation-dependent probe amplification allows rapid and precise OCRL1 gene quantification. PMID: 20043897
    40. Two closely related endocytic proteins, Ses1 and Ses2, which interact with OCRL, were identified. The interaction is mediated by a short amino acid motif similar to that used by the rab-5 effector APPL1. PMID: 20133602
    41. OCRL1 does not directly modulate endocytosis or postendocytic membrane traffic, and renal manifestations observed in Lowe syndrome patients are downstream consequences of loss of OCRL1 function. PMID: 19940034
    42. The homologous phosphatase Inpp5b was unable to complement the Ocrl1-dependent cell migration defect. PMID: 19700499
    43. Studies showed that three novel CLC-5 mutations were identified, and mutations in OCRL1, CLC-4 and cofilin excluded in causing Dent's disease. PMID: 19546591
    44. The deficiency of PIP2 5-phosphatase in Lowe syndrome affects actin polymerization PMID: 12428211
    45. OCRL1 interacts with Rac GTPase in the trans-Golgi network. PMID: 12915445
    46. suggests that Ocrl1 is active as a PIP2 5-phosphatase in Rac induced membrane ruffles PMID: 15829501
    47. OCRL1 is associated with clathrin-coated transport intermediates operating between the trans-Golgi network (TGN) and endosomes PMID: 15917292
    48. p.Phe259Ser mutation found in a case of Lowe syndrome (amino acid substitution) PMID: 16420990
    49. rabs play a dual role in regulation of OCRL1, firstly targeting it to the Golgi apparatus and endosomes, and secondly, directly stimulating the 5-phosphatase activity of OCRL1 after membrane recruitment. PMID: 16902405
    50. One frame shift mutation and two misssense mutations were identified in three male patients with the Dent disease phenotype. PMID: 17384968

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  • 相關(guān)疾?。?/div>
    Lowe oculocerebrorenal syndrome (OCRL); Dent disease 2 (DD2)
  • 亞細胞定位：
    Cytoplasmic vesicle, phagosome membrane. Early endosome membrane. Membrane, clathrin-coated pit. Cell projection, cilium, photoreceptor outer segment. Cell projection, cilium. Cytoplasmic vesicle. Endosome. Golgi apparatus, trans-Golgi network. Lysosome.
  • 蛋白家族：
    Inositol 1,4,5-trisphosphate 5-phosphatase type II family
  • 組織特異性：
    Brain, skeletal muscle, heart, kidney, lung, placenta and fibroblasts. Expressed in the retina and the retinal pigment epithelium.
  • 數(shù)據(jù)庫鏈接：

    HGNC: 8108

    OMIM: 300535

    KEGG: hsa:4952

    STRING: 9606.ENSP00000360154

    UniGene: Hs.126357