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Search results 1 to 100 out of 142 for Rpgrip1

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0.037s
Type Details Score
Gene
Type: gene
Organism: Homo sapiens
Gene
Type: gene
Organism: Rattus norvegicus
Gene
Type: gene
Organism: Danio rerio
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus musculus
Protein Domain
Type: Family
Description: Retinitis pigmentosa GTPase regulator-interacting protein 1 (RPGRIP1) specifically interacts with retinitis pigmentosa GTPase regulator (RPGR) []. Mutations in RPGR cause X-linked retinitis pigmentosa type 3 (RP3), whereas mutations in RPGRIP1 cause Leber congenital amaurosis (LCA) []. RPGRIP1 is expressed in the retina and is present in the connecting cilium and outer segments of photoreceptors, where it partially co-localises with RPGR [, ]. RPGR isoforms seem to determine the subcellular targeting of RPGRIP1 [].
Gene
Type: gene
Organism: Homo sapiens
Protein
Organism: Mus musculus
Length: 1126  
Fragment?: false
Publication
First Author: Zhao Y
Year: 2003
Journal: Proc Natl Acad Sci U S A
Title: The retinitis pigmentosa GTPase regulator (RPGR)- interacting protein: subserving RPGR function and participating in disk morphogenesis.
Volume: 100
Issue: 7
Pages: 3965-70
Publication
First Author: Patil H
Year: 2012
Journal: Biol Open
Title: Structural and functional plasticity of subcellular tethering, targeting and processing of RPGRIP1 by RPGR isoforms.
Volume: 1
Issue: 2
Pages: 140-60
Protein
Organism: Mus musculus
Length: 553  
Fragment?: false
Protein
Organism: Mus musculus
Length: 91  
Fragment?: true
Protein
Organism: Mus musculus
Length: 289  
Fragment?: false
Protein
Organism: Mus musculus
Length: 191  
Fragment?: true
Publication
First Author: Won J
Year: 2009
Journal: Hum Mol Genet
Title: RPGRIP1 is essential for normal rod photoreceptor outer segment elaboration and morphogenesis.
Volume: 18
Issue: 22
Pages: 4329-39
Publication
First Author: Lu X
Year: 2005
Journal: Invest Ophthalmol Vis Sci
Title: Identification of novel murine- and human-specific RPGRIP1 splice variants with distinct expression profiles and subcellular localization.
Volume: 46
Issue: 6
Pages: 1882-90
Publication
First Author: Shu X
Year: 2005
Journal: Hum Mol Genet
Title: RPGR ORF15 isoform co-localizes with RPGRIP1 at centrioles and basal bodies and interacts with nucleophosmin.
Volume: 14
Issue: 9
Pages: 1183-97
Publication
First Author: Eblimit A
Year: 2015
Journal: Hum Mol Genet
Title: Spata7 is a retinal ciliopathy gene critical for correct RPGRIP1 localization and protein trafficking in the retina.
Volume: 24
Issue: 6
Pages: 1584-601
Protein
Organism: Mus musculus
Length: 71  
Fragment?: true
Protein
Organism: Mus musculus
Length: 295  
Fragment?: true
Protein
Organism: Mus musculus
Length: 201  
Fragment?: true
Protein
Organism: Mus musculus
Length: 82  
Fragment?: true
Protein
Organism: Mus musculus
Length: 1127  
Fragment?: false
Gene
Type: gene
Organism: Danio rerio
Protein
Organism: Mus musculus
Length: 1331  
Fragment?: false
Protein
Organism: Mus musculus
Length: 1320  
Fragment?: false
Publication
First Author: Roepman R
Year: 2000
Journal: Hum Mol Genet
Title: The retinitis pigmentosa GTPase regulator (RPGR) interacts with novel transport-like proteins in the outer segments of rod photoreceptors.
Volume: 9
Issue: 14
Pages: 2095-105
Publication  
First Author: Li T
Year: 2014
Journal: Cold Spring Harb Perspect Med
Title: Leber congenital amaurosis caused by mutations in RPGRIP1.
Volume: 5
Issue: 4
Publication
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
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus caroli
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus musculus
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus musculus
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus musculus
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus musculus
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus musculus
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus musculus
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus musculus
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus musculus
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus musculus
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus musculus
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus musculus
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus musculus
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus musculus
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus musculus
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus musculus
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus musculus
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus pahari
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus spretus
Publication
First Author: Pawlyk BS
Year: 2005
Journal: Invest Ophthalmol Vis Sci
Title: Gene replacement therapy rescues photoreceptor degeneration in a murine model of Leber congenital amaurosis lacking RPGRIP.
Volume: 46
Issue: 9
Pages: 3039-45
GXD Expression      
Probe: MGI:3574829
Assay Type: RNA in situ
Annotation Date: 2005-08-30
Strength: Absent
Sex: Not Specified
Emaps: EMAPS:1647028
Stage: TS28
Assay Id: MGI:3585596
Age: postnatal day 6
Detected: false
Specimen Num: 11
GXD Expression
Probe: MGI:3834405
Assay Type: RNA in situ
Annotation Date: 2009-03-06
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1915728
Pattern: Regionally restricted
Stage: TS28
Assay Id: MGI:3834677
Age: postnatal adult
Image: S6 Nr2e3-/-
Note: Expression was detected in rods as in wild type.
Detected: true
Specimen Num: 2
GXD Expression
Probe: MGI:3834405
Assay Type: RNA in situ
Annotation Date: 2009-03-06
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1915728
Pattern: Regionally restricted
Stage: TS28
Assay Id: MGI:3834677
Age: postnatal adult
Image: S6 wt
Note: Expression was detected in rods.
Detected: true
Specimen Num: 1
GXD Expression
Probe: MGI:3574829
Assay Type: RNA in situ
Annotation Date: 2005-08-30
Strength: Present
Sex: Male
Emaps: EMAPS:1915728
Pattern: Regionally restricted
Stage: TS28
Assay Id: MGI:3585596
Age: postnatal adult
Image: Adult
Note: Expression was detected in the inner segment.
Detected: true
Specimen Num: 10
GXD Expression  
Probe: MGI:3574829
Assay Type: RNA in situ
Annotation Date: 2005-08-30
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1915728
Pattern: Not Specified
Stage: TS28
Assay Id: MGI:3585596
Age: postnatal day 8-10
Image: P8/10
Detected: true
Specimen Num: 9
GXD Expression  
Probe: MGI:3574829
Assay Type: RNA in situ
Annotation Date: 2005-08-30
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1915728
Pattern: Not Specified
Stage: TS28
Assay Id: MGI:3585596
Age: postnatal day 6-7
Image: P6/7
Detected: true
Specimen Num: 8
GXD Expression
Probe: MGI:3574829
Assay Type: RNA in situ
Annotation Date: 2005-08-30
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1915728
Pattern: Regionally restricted
Stage: TS28
Assay Id: MGI:3585596
Age: postnatal day 4-5
Image: P4/5
Note: Expression was detected in the scleral outer neuroblastic layer.
Detected: true
Specimen Num: 7
GXD Expression      
Probe: MGI:4885951
Assay Type: RNA in situ
Annotation Date: 2011-03-15
Strength: Absent
Sex: Not Specified
Emaps: EMAPS:1754423
Stage: TS23
Assay Id: MGI:4941036
Age: embryonic day 15.5
Detected: false
Specimen Num: 1
GXD Expression    
Probe: MGI:4417378
Assay Type: RNA in situ
Annotation Date: 2011-03-14
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1754422
Pattern: Not Specified
Stage: TS22
Assay Id: MGI:4940846
Age: embryonic day 14.5
Detected: true
Specimen Num: 1
GXD Expression    
Probe: MGI:3574829
Assay Type: RNA in situ
Annotation Date: 2005-08-30
Strength: Absent
Sex: Not Specified
Emaps: EMAPS:1716827
Stage: TS27
Assay Id: MGI:3585596
Age: postnatal day 2-3
Image: P2/3
Detected: false
Specimen Num: 6
GXD Expression    
Probe: MGI:3574829
Assay Type: RNA in situ
Annotation Date: 2005-08-30
Strength: Absent
Sex: Not Specified
Emaps: EMAPS:1716827
Stage: TS27
Assay Id: MGI:3585596
Age: postnatal day 0-1
Image: P0/1
Detected: false
Specimen Num: 5
GXD Expression    
Probe: MGI:3574829
Assay Type: RNA in situ
Annotation Date: 2005-08-30
Strength: Absent
Sex: Not Specified
Emaps: EMAPS:1716826
Stage: TS26
Assay Id: MGI:3585596
Age: embryonic day 18.0
Image: E18
Detected: false
Specimen Num: 4
GXD Expression    
Probe: MGI:3574829
Assay Type: RNA in situ
Annotation Date: 2005-08-30
Strength: Absent
Sex: Not Specified
Emaps: EMAPS:1716824
Stage: TS24
Assay Id: MGI:3585596
Age: embryonic day 16.0
Image: E16
Detected: false
Specimen Num: 3
GXD Expression    
Probe: MGI:3574829
Assay Type: RNA in situ
Annotation Date: 2005-08-30
Strength: Absent
Sex: Not Specified
Emaps: EMAPS:1716822
Stage: TS22
Assay Id: MGI:3585596
Age: embryonic day 14.0
Image: E14
Detected: false
Specimen Num: 2
GXD Expression      
Probe: MGI:3574829
Assay Type: RNA in situ
Annotation Date: 2005-08-30
Strength: Absent
Sex: Not Specified
Emaps: EMAPS:1716820
Stage: TS20
Assay Id: MGI:3585596
Age: embryonic day 12.0
Detected: false
Specimen Num: 1
GXD Expression      
Probe: MGI:4885951
Assay Type: RNA in situ
Annotation Date: 2011-03-15
Strength: Absent
Sex: Not Specified
Emaps: EMAPS:1691123
Stage: TS23
Assay Id: MGI:4941036
Age: embryonic day 15.5
Detected: false
Specimen Num: 1
GXD Expression      
Probe: MGI:4417378
Assay Type: RNA in situ
Annotation Date: 2011-03-14
Strength: Absent
Sex: Not Specified
Emaps: EMAPS:1691122
Stage: TS22
Assay Id: MGI:4940846
Age: embryonic day 14.5
Detected: false
Specimen Num: 1
GXD Expression    
Probe: MGI:4885951
Assay Type: RNA in situ
Annotation Date: 2011-03-15
Strength: Absent
Sex: Not Specified
Emaps: EMAPS:1691323
Stage: TS23
Assay Id: MGI:4941036
Age: embryonic day 15.5
Note: Absent in the ventricular and subventricular zones.
Detected: false
Specimen Num: 1
GXD Expression  
Probe: MGI:4417378
Assay Type: RNA in situ
Annotation Date: 2011-03-14
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1691322
Pattern: Regionally restricted
Stage: TS22
Assay Id: MGI:4940846
Age: embryonic day 14.5
Note: Expression is in the ventricular zone and is absent in the subventricular zone.
Detected: true
Specimen Num: 1
GXD Expression      
Probe: MGI:3574829
Assay Type: RNA in situ
Annotation Date: 2005-08-30
Strength: Absent
Sex: Not Specified
Emaps: EMAPS:1603924
Stage: TS24
Assay Id: MGI:3585596
Age: embryonic day 16.0
Detected: false
Specimen Num: 12
GXD Expression
Probe: MGI:5751146
Assay Type: Immunohistochemistry
Annotation Date: 2016-03-04
Strength: Present
Sex: Not Specified
Emaps: EMAPS:3568828
Pattern: Not Specified
Stage: TS28
Assay Id: MGI:5751147
Age: postnatal day 12
Image: 1C Ahi1+/+
Note: Expression is in the transition zone of the photoreceptor sensory epithelium.
Detected: true
Specimen Num: 1
GXD Expression      
Probe: MGI:4885951
Assay Type: RNA in situ
Annotation Date: 2011-03-15
Strength: Absent
Sex: Not Specified
Emaps: EMAPS:1689423
Stage: TS23
Assay Id: MGI:4941036
Age: embryonic day 15.5
Detected: false
Specimen Num: 1
GXD Expression    
Probe: MGI:4417378
Assay Type: RNA in situ
Annotation Date: 2011-03-14
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1689422
Pattern: Not Specified
Stage: TS22
Assay Id: MGI:4940846
Age: embryonic day 14.5
Detected: true
Specimen Num: 1
Publication    
First Author: Hong D
Year: 2000
Journal: GenBank Submission
Title: Mus musculus RPGR-interacting protein mRNA, complete cds
Pages: AY008297
Publication
First Author: Hong DH
Year: 2001
Journal: J Biol Chem
Title: Retinitis pigmentosa GTPase regulator (RPGRr)-interacting protein is stably associated with the photoreceptor ciliary axoneme and anchors RPGR to the connecting cilium.
Volume: 276
Issue: 15
Pages: 12091-9
Publication
First Author: Wright RN
Year: 2012
Journal: Invest Ophthalmol Vis Sci
Title: RpgrORF15 connects to the usher protein network through direct interactions with multiple whirlin isoforms.
Volume: 53
Issue: 3
Pages: 1519-29
Publication
First Author: Sun X
Year: 2016
Journal: Proc Natl Acad Sci U S A
Title: Loss of RPGR glutamylation underlies the pathogenic mechanism of retinal dystrophy caused by TTLL5 mutations.
Volume: 113
Issue: 21
Pages: E2925-34
Publication
First Author: Stratigopoulos G
Year: 2016
Journal: J Clin Invest
Title: Hypomorphism of Fto and Rpgrip1l causes obesity in mice.
Volume: 126
Issue: 5
Pages: 1897-910
Publication
First Author: Kooragayala K
Year: 2015
Journal: Invest Ophthalmol Vis Sci
Title: Quantification of Oxygen Consumption in Retina Ex Vivo Demonstrates Limited Reserve Capacity of Photoreceptor Mitochondria.
Volume: 56
Issue: 13
Pages: 8428-36
Publication
First Author: Han YG
Year: 2008
Journal: Nat Neurosci
Title: Hedgehog signaling and primary cilia are required for the formation of adult neural stem cells.
Volume: 11
Issue: 3
Pages: 277-84
Publication
First Author: Zhao L
Year: 2015
Journal: EMBO Mol Med
Title: Microglial phagocytosis of living photoreceptors contributes to inherited retinal degeneration.
Volume: 7
Issue: 9
Pages: 1179-97
Publication
First Author: Rao KN
Year: 2016
Journal: Hum Mol Genet
Title: Ciliopathy-associated protein CEP290 modifies the severity of retinal degeneration due to loss of RPGR.
Volume: 25
Issue: 10
Pages: 2005-2012
Publication
First Author: Krebs MP
Year: 2017
Journal: PLoS One
Title: Mouse models of human ocular disease for translational research.
Volume: 12
Issue: 8
Pages: e0183837
Publication
First Author: Westfall JE
Year: 2010
Journal: J Neurosci
Title: Retinal degeneration and failure of photoreceptor outer segment formation in mice with targeted deletion of the Joubert syndrome gene, Ahi1.
Volume: 30
Issue: 26
Pages: 8759-68
Publication
First Author: Stratigopoulos G
Year: 2008
Journal: Am J Physiol Regul Integr Comp Physiol
Title: Regulation of Fto/Ftm gene expression in mice and humans.
Volume: 294
Issue: 4
Pages: R1185-96
Publication
First Author: Dharmat R
Year: 2018
Journal: J Cell Biol
Title: SPATA7 maintains a novel photoreceptor-specific zone in the distal connecting cilium.
Volume: 217
Issue: 8
Pages: 2851-2865
Publication      
First Author: JAX Neuroscience Mutagenesis Facility
Year: 2003
Journal: MGI Direct Data Submission
Title: Heritable mouse mutants from JAX NMF ENU Mutagenesis Program
Publication  
First Author: Won J
Year: 2011
Journal: J Ophthalmol
Title: Mouse model resources for vision research.
Volume: 2011
Pages: 391384
Publication  
First Author: Potter PK
Year: 2016
Journal: Nat Commun
Title: Novel gene function revealed by mouse mutagenesis screens for models of age-related disease.
Volume: 7
Pages: 12444
Publication
First Author: Jelcick AS
Year: 2011
Journal: PLoS One
Title: Genetic variations strongly influence phenotypic outcome in the mouse retina.
Volume: 6
Issue: 7
Pages: e21858
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: Munger SC
Year: 2009
Journal: Genes Dev
Title: Elucidation of the transcription network governing mammalian sex determination by exploiting strain-specific susceptibility to sex reversal.
Volume: 23
Issue: 21
Pages: 2521-36
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: 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: 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