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Search results 101 to 145 out of 145 for Rpgrip1l

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Type Details Score
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
19430481 | J:282600
First Author: Khanna H
Year: 2009
Journal: Nat Genet
Title: A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies.
Volume: 41
Issue: 6
Pages: 739-45
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Publication
21685204 | -
First Author: Coene KL
Year: 2011
Journal: Hum Mol Genet
Title: The ciliopathy-associated protein homologs RPGRIP1 and RPGRIP1L are linked to cilium integrity through interaction with Nek4 serine/threonine kinase.
Volume: 20
Issue: 18
Pages: 3592-605
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DO Term
DOID:0111002 | Joubert syndrome 7
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DO Term
DOID:0070119 | Meckel syndrome 5
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Allele
Rpgrip1l<tm1Urt> | MGI:3716208
Name: Rpgrip1-like; targeted mutation 1, Ulrich Ruther
Allele Type: Targeted
Attribute String: Null/knockout
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Genotype
Genotype
Symbol: Rpgrip1l/Rpgrip1l
Background: involves: 129S1/Sv * 129X1/SvJ
Zygosity: hm
Has Mutant Allele: true
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Allele
Fto<tm1Urt> | MGI:3841156
Name: FTO alpha-ketoglutarate dependent dioxygenase; targeted mutation 1, Ulrich Ruther
Allele Type: Targeted
Attribute String: Null/knockout
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Publication
19234441 | J:147471
First Author: Fischer J
Year: 2009
Journal: Nature
Title: Inactivation of the Fto gene protects from obesity.
Volume: 458
Issue: 7240
Pages: 894-8
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Publication
23751871 | J:202153
First Author: Tews D
Year: 2013
Journal: Endocrinology
Title: FTO deficiency induces UCP-1 expression and mitochondrial uncoupling in adipocytes.
Volume: 154
Issue: 9
Pages: 3141-51
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Publication
24743632 | J:215191
First Author: Carnevali L
Year: 2014
Journal: PLoS One
Title: Signs of cardiac autonomic imbalance and proarrhythmic remodeling in FTO deficient mice.
Volume: 9
Issue: 4
Pages: e95499
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Publication
19559399 | J:154241
First Author: Boissel S
Year: 2009
Journal: Am J Hum Genet
Title: Loss-of-function mutation in the dioxygenase-encoding FTO gene causes severe growth retardation and multiple malformations.
Volume: 85
Issue: 1
Pages: 106-11
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Publication
30730976 | J:271883
First Author: Spychala A
Year: 2019
Journal: PLoS One
Title: FTO affects hippocampal function by regulation of BDNF processing.
Volume: 14
Issue: 2
Pages: e0211937
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Publication
23359686 | J:194327
First Author: Gulati P
Year: 2013
Journal: Proc Natl Acad Sci U S A
Title: Role for the obesity-related FTO gene in the cellular sensing of amino acids.
Volume: 110
Issue: 7
Pages: 2557-62
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Genotype
Genotype
Symbol: Fto/Fto
Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6
Zygosity: hm
Has Mutant Allele: true
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Genotype
Genotype
Symbol: Fto/Fto<+>
Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6
Zygosity: ht
Has Mutant Allele: true
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Protein
M0QWC0
Organism: Mus musculus/domesticus
Length: 289  
Fragment?: false
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Protein
M0QW56
Organism: Mus musculus/domesticus
Length: 191  
Fragment?: true
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Protein
Q5D222
Organism: Mus musculus/domesticus
Length: 553  
Fragment?: false
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Protein
M0QWI1
Organism: Mus musculus/domesticus
Length: 91  
Fragment?: true
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Publication
24981858 | -
First Author: Remans K
Year: 2014
Journal: Cell Rep
Title: C2 domains as protein-protein interaction modules in the ciliary transition zone.
Volume: 8
Issue: 1
Pages: 1-9
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Publication
17558407 | -
First Author: Arts HH
Year: 2007
Journal: Nat Genet
Title: Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome.
Volume: 39
Issue: 7
Pages: 882-8
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Publication
12874105 | -
First Author: Castagnet P
Year: 2003
Journal: Hum Mol Genet
Title: RPGRIP1s with distinct neuronal localization and biochemical properties associate selectively with RanBP2 in amacrine neurons.
Volume: 12
Issue: 15
Pages: 1847-63
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Publication
18281315 | -
First Author: Devuyst O
Year: 2008
Journal: Nephrol Dial Transplant
Title: Mutations in RPGRIP1L: extending the clinical spectrum of ciliopathies.
Volume: 23
Issue: 5
Pages: 1500-3
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Protein Domain
IPR031139 | RPGRIP1_fam
Type: Family
Description: RPGR-interacting protein 1 (RPGRIP1) is mutated in the eye disease Leber congenital amaurosis (LCA) and its structural homologue, RPGRIP1-like (RPGRIP1L, also called NPHP8 or fantom), is mutated in many different ciliopathies [, ]. Both are multidomain proteins that are predicted to interact with retinitis pigmentosa G-protein regulator (RPGR) []. Both consist of an N-terminal coiled coil domain, two C2 domains (C2N and C2C), and a C-terminal RPGR-interacting domain (RID). RID is a C2 domain with a canonical beta sandwich structure that does not bind Ca2+ and/or phospholipids and thus constitutes a unique type of protein-protein interaction module [].Both RPGRIP1 and RPGRIP1L interact with the ciliary transition zone protein nephrocystin 4 (NPHP4) via their C2C domain [, ]. An hypothesis is that RPGRIP1 and RPGRIP1L function as cilium-specific scaffolds that recruit a Nek4 signaling network which regulates cilium stability []. The expression of RPGRIP1 seems to be limited to photoreceptors and amacrine cells in the retina [], whereas RPGRIP1L is found in other tissues as well.
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Publication
25144618 | J:219118
First Author: Ikels K
Year: 2014
Journal: PLoS One
Title: FTO is a relevant factor for the development of the metabolic syndrome in mice.
Volume: 9
Issue: 8
Pages: e105349
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Genotype
Genotype
Symbol: Fto/Fto Lep/Lep
Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J
Zygosity: cx
Has Mutant Allele: true
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Publication
31390572 | J:288448
First Author: Uzquiano A
Year: 2019
Journal: Cell Rep
Title: Mutations in the Heterotopia Gene Eml1/EML1 Severely Disrupt the Formation of Primary Cilia.
Volume: 28
Issue: 6
Pages: 1596-1611.e10
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Publication
28846093 | J:252237
First Author: Shi X
Year: 2017
Journal: Nat Cell Biol
Title: Super-resolution microscopy reveals that disruption of ciliary transition-zone architecture causes Joubert syndrome.
Volume: 19
Issue: 10
Pages: 1178-1188
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Protein
M0QWT5
Organism: Mus musculus/domesticus
Length: 71  
Fragment?: true
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Protein
M0QW58
Organism: Mus musculus/domesticus
Length: 201  
Fragment?: true
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Protein
M0QWL3
Organism: Mus musculus/domesticus
Length: 82  
Fragment?: true
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Protein
M0QWM1
Organism: Mus musculus/domesticus
Length: 295  
Fragment?: true
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Publication
31189104 | J:280548
First Author: Ruud J
Year: 2019
Journal: Cell Rep
Title: The Fat Mass and Obesity-Associated Protein (FTO) Regulates Locomotor Responses to Novelty via D2R Medium Spiny Neurons.
Volume: 27
Issue: 11
Pages: 3182-3198.e9
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Protein
Q9EPQ2
Organism: Mus musculus/domesticus
Length: 1331  
Fragment?: false
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Protein
Q0VGR8
Organism: Mus musculus/domesticus
Length: 1126  
Fragment?: false
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Protein
E9QQ97
Organism: Mus musculus/domesticus
Length: 1127  
Fragment?: false
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Protein
E7CHD7
Organism: Mus musculus/domesticus
Length: 1320  
Fragment?: false
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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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