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Search results 201 to 257 out of 257 for Ocrl

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Type Details Score
Publication
- | J:57747
     
First Author: MGI Genome Annotation Group and UniGene Staff
Year: 2015
Journal: Database Download
Title: MGI-UniGene Interconnection Effort
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Publication
- | J:161428
       
First Author: Marc Feuermann, Huaiyu Mi, Pascale Gaudet, Dustin Ebert, Anushya Muruganujan, Paul Thomas
Year: 2010
Title: Annotation inferences using phylogenetic trees
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Publication
- | J:63103
     
First Author: Mouse Genome Database and National Center for Biotechnology Information
Year: 2000
Journal: Database Release
Title: Entrez Gene Load
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Publication
- | J:262123
     
First Author: Allen Institute for Brain Science
Year: 2004
Journal: Allen Institute
Title: Allen Brain Atlas: mouse riboprobes
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Publication
- | J:144086
     
First Author: Mouse Genome Informatics Scientific Curators
Year: 2009
Journal: Database Download
Title: Mouse Microarray Data Integration in Mouse Genome Informatics, the Affymetrix GeneChip Mouse Gene 1.0 ST Array Platform
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Publication
- | J:155721
     
First Author: Mouse Genome Informatics (MGI) and The National Center for Biotechnology Information (NCBI)
Year: 2010
Journal: Database Download
Title: Consensus CDS project
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Publication
- | J:85324
     
First Author: Mouse Genome Informatics Group
Year: 2003
Journal: Database Procedure
Title: Automatic Encodes (AutoE) Reference
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Publication
- | J:53168
     
First Author: Bairoch A
Year: 1999
Journal: Database Release
Title: SWISS-PROT Annotated protein sequence database
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Publication
- | J:91388
       
First Author: Mouse Genome Informatics Scientific Curators
Year: 2005
Title: Obtaining and Loading Genome Assembly Coordinates from Ensembl Annotations
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Publication
- | J:155221
     
First Author: Mouse Genome Informatics
Year: 2010
Journal: Database Release
Title: Protein Ontology Association Load.
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Publication
- | J:90438
       
First Author: Mouse Genome Informatics Scientific Curators
Year: 2005
Title: Obtaining and loading genome assembly coordinates from NCBI annotations
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Publication
- | J:144087
     
First Author: Mouse Genome Informatics Scientific Curators
Year: 2009
Journal: Database Download
Title: Mouse Microarray Data Integration in Mouse Genome Informatics, the Affymetrix GeneChip Mouse Genome 430 2.0 Array Platform
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UniProt Feature
UniProt Feature
Begin: 1
Description: Inositol polyphosphate 5-phosphatase OCRL
Type: chain
End: 900
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Protein
Q80XM6
Organism: Mus musculus/domesticus
Length: 426  
Fragment?: true
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Protein
Q7TPR1
Organism: Mus musculus/domesticus
Length: 182  
Fragment?: false
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Protein
Q6NVF0
Organism: Mus musculus/domesticus
Length: 900  
Fragment?: false
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Publication
25107275 | J:248446
 
First Author: Nández R
Year: 2014
Journal: Elife
Title: A role of OCRL in clathrin-coated pit dynamics and uncoating revealed by studies of Lowe syndrome cells.
Volume: 3
Pages: e02975
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Protein
Q6NVF0-2
Organism: Mus musculus/domesticus
Length: 727  
Fragment?: false
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Protein
F7CAV3
Organism: Mus musculus/domesticus
Length: 266  
Fragment?: true
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Publication
28669993 | -
First Author: De Matteis MA
Year: 2017
Journal: Nat Rev Nephrol
Title: The 5-phosphatase OCRL in Lowe syndrome and Dent disease 2.
Volume: 13
Issue: 8
Pages: 455-470
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Publication
21971085 | -
First Author: Vicinanza M
Year: 2011
Journal: EMBO J
Title: OCRL controls trafficking through early endosomes via PtdIns4,5Pâ‚‚-dependent regulation of endosomal actin.
Volume: 30
Issue: 24
Pages: 4970-85
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Publication
19536138 | -
First Author: Mao Y
Year: 2009
Journal: EMBO J
Title: A PH domain within OCRL bridges clathrin-mediated membrane trafficking to phosphoinositide metabolism.
Volume: 28
Issue: 13
Pages: 1831-42
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Publication
22072788 | -
First Author: Bohdanowicz M
Year: 2012
Journal: Mol Biol Cell
Title: Recruitment of OCRL and Inpp5B to phagosomes by Rab5 and APPL1 depletes phosphoinositides and attenuates Akt signaling.
Volume: 23
Issue: 1
Pages: 176-87
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Publication
25869668 | J:230616
First Author: Nakatsu F
Year: 2015
Journal: J Cell Biol
Title: Sac2/INPP5F is an inositol 4-phosphatase that functions in the endocytic pathway.
Volume: 209
Issue: 1
Pages: 85-95
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Allele
Ocrl<tm1Nbm> | MGI:2159611
Name: OCRL, inositol polyphosphate-5-phosphatase; targeted mutation 1, Robert L Nussbaum
Allele Type: Targeted
Attribute String: Null/knockout
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Genotype
Genotype
Symbol: Ocrl/Ocrl
Background: either: (involves: 129S/SvEv * C57BL/6) or (involves: 129S/SvEv * NIH Black Swiss)
Zygosity: hm
Has Mutant Allele: true
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DO Term
DOID:1056 | oculocerebrorenal syndrome
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DO Term
DOID:0081454 | Dent disease 2
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Genotype
Genotype
Symbol: Inpp5b/Inpp5b Ocrl/Ocrl Tg(INPP5B)CNbm/?
Background: involves: 129S/SvEv * 129S6/SvEvTac * FVB/N
Zygosity: cx
Has Mutant Allele: true
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Genotype
Genotype
Symbol: Inpp5b/Inpp5b Ocrl/? Tg(INPP5B)CNbm/?
Background: involves: 129S/SvEv * 129S6/SvEvTac * FVB/N
Zygosity: cx
Has Mutant Allele: true
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Publication
25018876 | -
 
First Author: Schou KB
Year: 2014
Journal: Cilia
Title: Identification of conserved, centrosome-targeting ASH domains in TRAPPII complex subunits and TRAPPC8.
Volume: 3
Pages: 6
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Protein Domain
IPR031549 | ASH
Type: Domain
Description: The ASH (ASPM-SPD-2-Hydin) domain or N-terminal domain of abnormal spindle-like microcephaly-associated protein (ASPM) is found in proteins associated with cilia, flagella, the centrosome and the Golgi complex [, ]. The domain is also found in Hydin and OCRL whose deficiencies are associated with hydrocephalus and Lowe oculocerebrorenal syndrome (OCRL), respectively. The presence of ASH in centrosomal and ciliary proteins indicates that ASPM may possess roles not only in mitotic spindle regulation, but also in ciliary and flagellar function [].
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Publication
16443634 | -
First Author: Ponting CP
Year: 2006
Journal: Bioinformatics
Title: A novel domain suggests a ciliary function for ASPM, a brain size determining gene.
Volume: 22
Issue: 9
Pages: 1031-5
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Protein Domain
IPR037793 | OCRL1/INPP5B_INPP5c
Type: Domain
Description: OCRL1 hydrolyzes phosphatidylinositol 4,5-bisphosphate (PtIns(4,5)P2) and the signaling molecule phosphatidylinositol 1,4,5-trisphosphate (PtIns(1,4,5)P3), and thereby modulates cellular signaling events []. OCRL1 resides on vesicular structures throughout the endosomal system and the Golgi complex, and is also present at the plasma membrane in membrane ruffles and at late-stage endocytic clathrin-coated pits. It binds clathrin, clathrin adaptors, several GTPases, and the endocytic proteins APPL1 and Ses1/2 []. Mutations in the OCRL1 gene cause Lowe Syndrome, leading to cataracts, mental retardation and renal failure []. Mutations in OCRL can also give rise to a milder pathology, Dent disease 2, which is characterised by renal Fanconi syndrome in the absence of extrarenal pathologies [].OCRL1 shares ~45% sequence identity with INPP5B and has the same domain organization. However, a loop in the Rho GAP domain contains a second clathrin box which is absent in INPP5B. INPP5B shares most interacting partners with OCRL, except for clathrin and the endocytic clathrin adaptor AP-2 []. OCRL1 contains a PH domain, a 5-phosphatase domain, an ASH domain and a Rho-GAP domain. The RhoGAP domain lacks the catalytic arginine and is catalytically inactive. However, the RhoGAP domain of OCRL interacts with Rac and Cdc42, but only the Cdc42 interaction is GTP-dependent. The RhoGAP domain also interacts with three endocytic proteins containing the F&H motif: APPL1, Ses1 and Ses2. OCRL1 interacts with Rab GTPase (Rab8) through its ASH domain []. This entry represents the inositol polyphosphate 5-phosphatase (INPP5c) domain of OCRL1/INPP5B.
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Publication
27138252 | J:236632
First Author: Mrozowska PS
Year: 2016
Journal: J Cell Biol
Title: Regulation of podocalyxin trafficking by Rab small GTPases in 2D and 3D epithelial cell cultures.
Volume: 213
Issue: 3
Pages: 355-69
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Publication
15068791 | -
First Author: Kemp CA
Year: 2004
Journal: Dev Cell
Title: Centrosome maturation and duplication in C. elegans require the coiled-coil protein SPD-2.
Volume: 6
Issue: 4
Pages: 511-23
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Publication
22381590 | -
First Author: Pirruccello M
Year: 2012
Journal: Trends Biochem Sci
Title: Inositol 5-phosphatases: insights from the Lowe syndrome protein OCRL.
Volume: 37
Issue: 4
Pages: 134-43
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Publication
21901156 | -
First Author: Grieve AG
Year: 2011
Journal: PLoS One
Title: Lowe Syndrome protein OCRL1 supports maturation of polarized epithelial cells.
Volume: 6
Issue: 8
Pages: e24044
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Protein Domain
IPR037787 | OCRL1_PH
Type: Domain
Description: OCRL1 hydrolyzes phosphatidylinositol 4,5-bisphosphate (PtIns(4,5)P2) and the signaling molecule phosphatidylinositol 1,4,5-trisphosphate (PtIns(1,4,5)P3), and thereby modulates cellular signaling events []. OCRL1 resides on vesicular structures throughout the endosomal system and the Golgi complex, and is also present at the plasma membrane in membrane ruffles and at late-stage endocytic clathrin-coated pits. It binds clathrin, clathrin adaptors, several GTPases, and the endocytic proteins APPL1 and Ses1/2 []. Mutations in the OCRL1 gene cause Lowe Syndrome, leading to cataracts, mental retardation and renal failure []. Mutations in OCRL can also give rise to a milder pathology, Dent disease 2, which is characterised by renal Fanconi syndrome in the absence of extrarenal pathologies [].OCRL1 shares ~45% sequence identity with INPP5B (not included in this entry) and has the same domain organization. However, a loop in the Rho GAP domain contains a second clathrin box which is absent in INPP5B. INPP5B shares most interacting partners with OCRL, except for clathrin and the endocytic clathrin adaptor AP-2 []. OCRL1 contains a PH domain, a 5-phosphatase domain, an ASH domain and a Rho-GAP domain. The RhoGAP domain lacks the catalytic arginine and is catalytically inactive. However, the RhoGAP domain of OCRL interacts with Rac and Cdc42, but only the Cdc42 interaction is GTP-dependent. The RhoGAP domain also interacts with three endocytic proteins containing the F&H motif: APPL1, Ses1 and Ses2. OCRL1 interacts with Rab GTPase (Rab8) through its ASH domain []. This entry represents the PH domain of OCRL1 []. The PH domain connects to the 5-phosphatase domain, which has a Dnase I-like fold [].
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Protein
Q8BXT3
Organism: Mus musculus/domesticus
Length: 511  
Fragment?: false
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Publication
20133602 | J:157577
First Author: Swan LE
Year: 2010
Journal: Proc Natl Acad Sci U S A
Title: Two closely related endocytic proteins that share a common OCRL-binding motif with APPL1.
Volume: 107
Issue: 8
Pages: 3511-6
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Publication
18256213 | J:320047
First Author: Fukuda M
Year: 2008
Journal: Mol Cell Proteomics
Title: Large scale screening for novel rab effectors reveals unexpected broad Rab binding specificity.
Volume: 7
Issue: 6
Pages: 1031-42
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Publication
27060558 | J:261307
 
First Author: Clasadonte J
Year: 2016
Journal: Neurobiol Dis
Title: Molecular analysis of acute and chronic reactive astrocytes in the pilocarpine model of temporal lobe epilepsy.
Volume: 91
Pages: 315-25
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Publication
20872266 | J:165971
First Author: Bothwell SP
Year: 2010
Journal: Mamm Genome
Title: Species-specific difference in expression and splice-site choice in Inpp5b, an inositol polyphosphate 5-phosphatase paralogous to the enzyme deficient in Lowe Syndrome.
Volume: 21
Issue: 9-10
Pages: 458-66
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Publication
19272022 | J:148997
First Author: Ooms LM
Year: 2009
Journal: Biochem J
Title: The role of the inositol polyphosphate 5-phosphatases in cellular function and human disease.
Volume: 419
Issue: 1
Pages: 29-49
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Protein
Q8BQW7
Organism: Mus musculus/domesticus
Length: 518  
Fragment?: false
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Protein
Q8CAK2
Organism: Mus musculus/domesticus
Length: 472  
Fragment?: false
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Protein
G3V015
Organism: Mus musculus/domesticus
Length: 178  
Fragment?: true
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Protein
Q8K337
Organism: Mus musculus/domesticus
Length: 993  
Fragment?: false
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Protein
A0A2X0SG17
Organism: Mus musculus/domesticus
Length: 995  
Fragment?: true
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Protein
Q9DBW2
Organism: Mus musculus/domesticus
Length: 757  
Fragment?: true
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Protein
Q80W93
Organism: Mus musculus/domesticus
Length: 5154  
Fragment?: false
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Protein
Q8CJ27
Organism: Mus musculus/domesticus
Length: 3122  
Fragment?: false
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Publication
18034455 | -
First Author: Ballif BA
Year: 2008
Journal: J Proteome Res
Title: Large-scale identification and evolution indexing of tyrosine phosphorylation sites from murine brain.
Volume: 7
Issue: 1
Pages: 311-8
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Publication
15489334 | -
First Author: Gerhard DS
Year: 2004
Journal: Genome Res
Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
Volume: 14
Issue: 10B
Pages: 2121-7
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Publication
21183079 | J:292518
First Author: Huttlin EL
Year: 2010
Journal: Cell
Title: A tissue-specific atlas of mouse protein phosphorylation and expression.
Volume: 143
Issue: 7
Pages: 1174-89
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Publication
19468303 | -
First Author: Church DM
Year: 2009
Journal: PLoS Biol
Title: Lineage-specific biology revealed by a finished genome assembly of the mouse.
Volume: 7
Issue: 5
Pages: e1000112
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MouseMine is a collaboration between MGI at The Jackson Laboratory and the InterMine project at the Cambridge Systems Biology Centre. MouseMine is funded through a grant from the NIH/NHGRI.The Jackson Laboratory makes no representation about the suitability or accuracy of this software or data for any purpose, and makes no warranties, either express or implied, including merchantability and fitness for a particular purpose or that the use of this software or data will not infringe any third party patents, copyrights, trademarks, or other rights. the software and data are provided "as is". This software and data are provided to enhance knowledge and encourage progress in the scientific community and are to be used only for research and educational purposes. Any reproduction or use for commercial purpose is prohibited without the prior express written permission of the Jackson Laboratory.

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