OCRL Antibody

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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HGNC: 8108

OMIM: 300535

KEGG: hsa:4952

STRING: 9606.ENSP00000360154

UniGene: Hs.126357