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Search results 101 to 155 out of 155 for Rpgrip1

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0.023s
Type Details Score
Publication  
First Author: Hammock EA
Year: 2010
Journal: Neural Dev
Title: Homologs of genes expressed in Caenorhabditis elegans GABAergic neurons are also found in the developing mouse forebrain.
Volume: 5
Pages: 32
Publication
First Author: Corbo JC
Year: 2005
Journal: PLoS Genet
Title: A hybrid photoreceptor expressing both rod and cone genes in a mouse model of enhanced S-cone syndrome.
Volume: 1
Issue: 2
Pages: e11
Publication
First Author: Roepman R
Year: 2005
Journal: Proc Natl Acad Sci U S A
Title: Interaction of nephrocystin-4 and RPGRIP1 is disrupted by nephronophthisis or Leber congenital amaurosis-associated mutations.
Volume: 102
Issue: 51
Pages: 18520-5
Publication  
First Author: Collin GB
Year: 2020
Journal: Cells
Title: Mouse Models of Inherited Retinal Degeneration with Photoreceptor Cell Loss.
Volume: 9
Issue: 4
Publication
First Author: Blackshaw S
Year: 2004
Journal: PLoS Biol
Title: Genomic analysis of mouse retinal development.
Volume: 2
Issue: 9
Pages: E247
Publication        
First Author: Mouse Genome Informatics Scientific Curators
Year: 2001
Title: RIKEN Data Curation in Mouse Genome Informatics
Publication        
First Author: Mouse Genome Informatics Scientific Curators
Year: 2002
Title: Mouse Genome Informatics Computational Sequence to Gene Associations for FANTOM2 data
Publication      
First Author: Lennon G
Year: 1999
Journal: Database Download
Title: WashU-HHMI Mouse EST Project
Publication
First Author: Hansen GM
Year: 2008
Journal: Genome Res
Title: Large-scale gene trapping in C57BL/6N mouse embryonic stem cells.
Volume: 18
Issue: 10
Pages: 1670-9
Publication
First Author: Magdaleno S
Year: 2006
Journal: PLoS Biol
Title: BGEM: an in situ hybridization database of gene expression in the embryonic and adult mouse nervous system.
Volume: 4
Issue: 4
Pages: e86
Publication
First Author: Kawai J
Year: 2001
Journal: Nature
Title: Functional annotation of a full-length mouse cDNA collection.
Volume: 409
Issue: 6821
Pages: 685-90
Publication
First Author: Zambrowicz BP
Year: 2003
Journal: Proc Natl Acad Sci U S A
Title: Wnk1 kinase deficiency lowers blood pressure in mice: a gene-trap screen to identify potential targets for therapeutic intervention.
Volume: 100
Issue: 24
Pages: 14109-14
Publication      
First Author: Mouse Genome Informatics (MGI) and National Center for Biotechnology Information (NCBI)
Year: 2008
Journal: Database Download
Title: Mouse Gene Trap Data Load from dbGSS
Publication        
First Author: GemPharmatech
Year: 2020
Title: GemPharmatech Website.
Publication      
First Author: The Jackson Laboratory Mouse Radiation Hybrid Database
Year: 2004
Journal: Database Release
Title: Mouse T31 Radiation Hybrid Data Load
Publication
First Author: Okazaki Y
Year: 2002
Journal: Nature
Title: Analysis of the mouse transcriptome based on functional annotation of 60,770 full-length cDNAs.
Volume: 420
Issue: 6915
Pages: 563-73
Publication        
First Author: Mouse Genome Informatics Scientific Curators
Year: 2000
Title: Gene Ontology Annotation by electronic association of SwissProt Keywords with GO terms
Publication
First Author: Diez-Roux G
Year: 2011
Journal: PLoS Biol
Title: A high-resolution anatomical atlas of the transcriptome in the mouse embryo.
Volume: 9
Issue: 1
Pages: e1000582
Publication      
First Author: Mouse Genome Informatics Scientific Curators
Year: 2010
Journal: Database Download
Title: Mouse Microarray Data Integration in Mouse Genome Informatics, the Affymetrix GeneChip Mouse Genome U74 Array Platform (A, B, C v2).
Publication        
First Author: Mouse Genome Informatics Scientific Curators
Year: 2002
Title: Mouse Genome Informatics Computational Sequence to Gene Associations
Publication
First Author: Gaudet P
Year: 2011
Journal: Brief Bioinform
Title: Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium.
Volume: 12
Issue: 5
Pages: 449-62
Publication      
First Author: Mouse Genome Database and National Center for Biotechnology Information
Year: 2000
Journal: Database Release
Title: Entrez Gene Load
Publication        
First Author: Mouse Genome Informatics Scientific Curators
Year: 2005
Title: Obtaining and Loading Genome Assembly Coordinates from Ensembl Annotations
Publication      
First Author: Allen Institute for Brain Science
Year: 2004
Journal: Allen Institute
Title: Allen Brain Atlas: mouse riboprobes
Publication        
First Author: Mouse Genome Informatics Scientific Curators
Year: 2005
Title: Obtaining and loading genome assembly coordinates from NCBI annotations
Publication      
First Author: Bairoch A
Year: 1999
Journal: Database Release
Title: SWISS-PROT Annotated protein sequence database
Publication      
First Author: Mouse Genome Informatics Group
Year: 2003
Journal: Database Procedure
Title: Automatic Encodes (AutoE) Reference
Publication      
First Author: Mouse Genome Informatics (MGI) and The National Center for Biotechnology Information (NCBI)
Year: 2010
Journal: Database Download
Title: Consensus CDS project
Publication      
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
Publication      
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
Publication      
First Author: Mouse Genome Informatics
Year: 2010
Journal: Database Release
Title: Protein Ontology Association Load.
Publication
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
Publication
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
Publication
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
Protein Domain
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.
Publication
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
Protein
Organism: Mus musculus/domesticus
Length: 211  
Fragment?: false
Protein
Organism: Mus musculus/domesticus
Length: 78  
Fragment?: true
Protein
Organism: Mus musculus/domesticus
Length: 77  
Fragment?: true
Publication
First Author: Delous M
Year: 2007
Journal: Nat Genet
Title: The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome.
Volume: 39
Issue: 7
Pages: 875-81
Protein
Organism: Mus musculus/domesticus
Length: 253  
Fragment?: true
DO Term
Protein
Organism: Mus musculus/domesticus
Length: 1264  
Fragment?: false
Allele  
Name: retinitis pigmentosa GTPase regulator interacting protein 1; neuroscience mutagenesis facility, 247
Allele Type: Chemically induced (ENU)
Allele
Name: retinitis pigmentosa GTPase regulator interacting protein 1; translational research vision model 111
Allele Type: Chemically induced (ENU)
Attribute String: Not Specified
Allele
Name: retinitis pigmentosa GTPase regulator interacting protein 1; targeted mutation 1, Tiansen Li
Allele Type: Targeted
Attribute String: Modified isoform(s), Null/knockout
Genotype
Symbol: Rpgrip1/Rpgrip1
Background: involves: 129S4/SvJae * C57BL/6
Zygosity: hm
Has Mutant Allele: true
Genotype
Symbol: Rpgrip1/Rpgrip1
Background: C57BL/6J-Rpgrip1
Zygosity: hm
Has Mutant Allele: true
DO Term
Genotype
Symbol: Rpgrip1/Rpgrip1
Background: C57BL/6J-Rpgrip1/Pjn
Zygosity: hm
Has Mutant Allele: true
Protein Domain
Type: Domain
Description: This is the C-terminal domain of retinitis pigmentosa G-protein regulator (RPGR) interacting protein-1 (RPGRIP1) present in Homo sapiens. A mutation in RPGRIP1 can be observed in the eye disease Leber congenital amaurosis. The domain is commonly known as the RPGR-interacting domain (RID) and is thought to have a C2-like fold [].
Publication
First Author: Brunner S
Year: 2010
Journal: Invest Ophthalmol Vis Sci
Title: Cone versus rod disease in a mutant Rpgr mouse caused by different genetic backgrounds.
Volume: 51
Issue: 2
Pages: 1106-15
Publication
First Author: Moore DF
Year: 2007
Journal: Proc Natl Acad Sci U S A
Title: Genomic abnormalities of the murine model of Fabry disease after disease-related perturbation, a systems biology approach.
Volume: 104
Issue: 19
Pages: 8065-70
Publication  
First Author: Eblimit A
Year: 2018
Journal: Exp Eye Res
Title: Conditional loss of Spata7 in photoreceptors causes progressive retinal degeneration in mice.
Volume: 166
Pages: 120-130
Publication
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