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Search results 1 to 96 out of 96 for Nphp4

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Hits by Pathway

Hits by Strain

Hits by Category

Type Details Score
Gene
261734 | NPHP4
Type: gene
Organism: human
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Gene
457887 | NPHP4
Type: gene
Organism: chimpanzee
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Gene
519551 | NPHP4
Type: gene
Organism: cattle
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Gene
419377 | NPHP4
Type: gene
Organism: chicken
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Gene
560234 | nphp4
Type: gene
Organism: zebrafish
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Gene
720707 | NPHP4
Type: gene
Organism: macaque, rhesus
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Gene
101730566 | nphp4
Type: gene
Organism: frog, western clawed
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Gene
313749 | Nphp4
Type: gene
Organism: rat
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Gene
489625 | NPHP4
Type: gene
Organism: dog, domestic
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Protein Coding Gene
MGI:2384210 | Nphp4
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Domain
IPR029775 | NPHP4
Type: Family
Description: All nephrocystin proteins (NPHPs) localise to primary cilia, which are critical regulators of several cell signalling pathways for embryonic development and tissue homeostasis. Nephrocystin-4 (NPHP4) localises to the basal body []and is thought to be involved in basal body docking and organising ciliary trafficking []. It is a negative regulator of canonical Wnt signalling [, ]. Mutations in NPHP4 cause Nephronophthisis 4, an autosomal-recessive cystic kidney disease that belongs to a broad spectrum of disorders collectively termed ciliopathies [].
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Publication
12244321 | J:79563
First Author: Mollet G
Year: 2002
Journal: Nat Genet
Title: The gene mutated in juvenile nephronophthisis type 4 encodes a novel protein that interacts with nephrocystin.
Volume: 32
Issue: 2
Pages: 300-5
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Protein
Q80UJ2
Organism: Mus musculus/domesticus
Length: 379  
Fragment?: true
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Publication
21078623 | J:167232
First Author: Won J
Year: 2011
Journal: Hum Mol Genet
Title: NPHP4 is necessary for normal photoreceptor ribbon synapse maintenance and outer segment formation, and for sperm development.
Volume: 20
Issue: 3
Pages: 482-96
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Protein
P59240
Organism: Mus musculus/domesticus
Length: 1425  
Fragment?: false
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Protein
Q6A020
Organism: Mus musculus/domesticus
Length: 1310  
Fragment?: true
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Protein
Q8CGY9
Organism: Mus musculus/domesticus
Length: 1356  
Fragment?: false
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Protein
Q9D4S3
Organism: Mus musculus/domesticus
Length: 100  
Fragment?: false
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Publication
15661758 | -
First Author: Mollet G
Year: 2005
Journal: Hum Mol Genet
Title: Characterization of the nephrocystin/nephrocystin-4 complex and subcellular localization of nephrocystin-4 to primary cilia and centrosomes.
Volume: 14
Issue: 5
Pages: 645-56
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Publication
21498478 | -
First Author: Burcklé C
Year: 2011
Journal: Hum Mol Genet
Title: Control of the Wnt pathways by nephrocystin-4 is required for morphogenesis of the zebrafish pronephros.
Volume: 20
Issue: 13
Pages: 2611-27
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Publication
21422230 | -
First Author: Williams CL
Year: 2011
Journal: J Cell Biol
Title: MKS and NPHP modules cooperate to establish basal body/transition zone membrane associations and ciliary gate function during ciliogenesis.
Volume: 192
Issue: 6
Pages: 1023-41
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Publication
22654112 | -
First Author: Borgal L
Year: 2012
Journal: J Biol Chem
Title: The ciliary protein nephrocystin-4 translocates the canonical Wnt regulator Jade-1 to the nucleus to negatively regulate β-catenin signaling.
Volume: 287
Issue: 30
Pages: 25370-80
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Publication
20169535 | J:212148
First Author: Shiba D
Year: 2010
Journal: Cytoskeleton (Hoboken)
Title: Inv acts as a molecular anchor for Nphp3 and Nek8 in the proximal segment of primary cilia.
Volume: 67
Issue: 2
Pages: 112-9
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Publication
26936822 | J:235807
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
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Publication
26540106 | J:231702
First Author: Yee LE
Year: 2015
Journal: PLoS Genet
Title: Conserved Genetic Interactions between Ciliopathy Complexes Cooperatively Support Ciliogenesis and Ciliary Signaling.
Volume: 11
Issue: 11
Pages: e1005627
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Protein Coding Gene
MGP_CAROLIEiJ_G0026859 | -
Type: protein_coding_gene
Organism: Mus caroli
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Protein Coding Gene
MGP_129S1SvImJ_G0029183 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_AJ_G0029148 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_AKRJ_G0029096 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_BALBcJ_G0029164 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_C3HHeJ_G0028885 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGI_C57BL6J_2384210 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_C57BL6NJ_G0029613 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_CASTEiJ_G0028298 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_CBAJ_G0028847 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_DBA2J_G0028996 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_FVBNJ_G0028960 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_LPJ_G0029086 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_NODShiLtJ_G0028987 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_NZOHlLtJ_G0029645 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_PWKPhJ_G0028018 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_WSBEiJ_G0028378 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_PahariEiJ_G0029207 | -
Type: protein_coding_gene
Organism: Mus pahari
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Protein Coding Gene
MGP_SPRETEiJ_G0027852 | -
Type: protein_coding_gene
Organism: Mus spretus
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Publication
20664800 | J:212147
 
First Author: Murga-Zamalloa CA
Year: 2010
Journal: Mol Vis
Title: Interaction of ciliary disease protein retinitis pigmentosa GTPase regulator with nephronophthisis-associated proteins in mammalian retinas.
Volume: 16
Pages: 1373-81
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Publication
29899041 | J:264617
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
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Publication
21565611 | J:173396
First Author: Sang L
Year: 2011
Journal: Cell
Title: Mapping the NPHP-JBTS-MKS protein network reveals ciliopathy disease genes and pathways.
Volume: 145
Issue: 4
Pages: 513-28
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Publication
29038301 | J:255486
First Author: Agbu SO
Year: 2018
Journal: J Cell Biol
Title: The small GTPase RSG1 controls a final step in primary cilia initiation.
Volume: 217
Issue: 1
Pages: 413-427
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Publication
- | J:87349
     
First Author: JAX Neuroscience Mutagenesis Facility
Year: 2004
Journal: MGI Direct Data Submission
Title: Heritable mouse mutants from JAX NMF ENU Mutagenesis Program
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Publication
21052544 | J:166679
 
First Author: Won J
Year: 2011
Journal: J Ophthalmol
Title: Mouse model resources for vision research.
Volume: 2011
Pages: 391384
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Publication
33737325 | J:306107
 
First Author: Niborski LL
Year: 2021
Journal: Dis Model Mech
Title: Hnf1b haploinsufficiency differentially affects developmental target genes in a new renal cysts and diabetes mouse model.
Volume: 14
Issue: 5
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Publication
32290105 | J:282558
 
First Author: Collin GB
Year: 2020
Journal: Cells
Title: Mouse Models of Inherited Retinal Degeneration with Photoreceptor Cell Loss.
Volume: 9
Issue: 4
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Publication
- | J:80001
       
First Author: Mouse Genome Informatics Scientific Curators
Year: 2002
Title: FANTOM2 Data Curation in Mouse Genome Informatics
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Publication
- | J:265051
     
First Author: MGI and IMPC
Year: 2018
Journal: Database Release
Title: MGI Load of Endonuclease-Mediated Alleles (CRISPR) from the International Mouse Phenotyping Consortium (IMPC)
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Publication
- | J:211773
     
First Author: Mouse Genome Informatics and the International Mouse Phenotyping Consortium (IMPC)
Year: 2014
Journal: Database Release
Title: Obtaining and Loading Phenotype Annotations from the International Mouse Phenotyping Consortium (IMPC) Database
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Publication
- | J:342605
       
First Author: GOA curators
Year: 2016
Title: Automatic transfer of experimentally verified manual GO annotation data to orthologs using Ensembl Compara
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Publication
- | J:342604
       
First Author: UniProt-GOA
Year: 2012
Title: Gene Ontology annotation based on UniProtKB/Swiss-Prot Subcellular Location vocabulary mapping, accompanied by conservative changes to GO terms applied by UniProt
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Publication
- | J:155856
       
First Author: Mouse Genome Informatics Scientific Curators
Year: 2010
Title: Rat to Mouse ISO GO annotation transfer
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Publication
- | J:78475
       
First Author: Mouse Genome Informatics Scientific Curators
Year: 2002
Title: Chromosome assignment of mouse genes using the Mouse Genome Sequencing Consortium (MGSC) assembly and the ENSEMBL Database
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Publication
11217851 | J:65060
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
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Publication
- | J:23000
       
First Author: MGD Nomenclature Committee
Year: 1995
Title: Nomenclature Committee Use
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Publication
14610273 | J:86696
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
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Publication
- | J:141210
     
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
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Publication
- | J:293217
       
First Author: GemPharmatech
Year: 2020
Title: GemPharmatech Website.
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Publication
- | J:342587
       
First Author: AgBase, BHF-UCL, Parkinson's UK-UCL, dictyBase, HGNC, Roslin Institute, FlyBase and UniProtKB curators
Year: 2011
Title: Manual transfer of experimentally-verified manual GO annotation data to orthologs by curator judgment of sequence similarity
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Publication
12466851 | J:80000
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
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Publication
- | J:164563
       
First Author: Mouse Genome Informatics Scientific Curators
Year: 2010
Title: Human to Mouse ISO GO annotation transfer
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Publication
21267068 | J:153498
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
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Publication
- | J:75000
       
First Author: Mouse Genome Informatics Scientific Curators
Year: 2002
Title: Mouse Genome Informatics Computational Sequence to Gene Associations
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Publication
- | J:157972
     
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).
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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: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: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: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: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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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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DO Term
DOID:0111115 | nephronophthisis 4
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Publication
26644512 | -
First Author: Yasunaga T
Year: 2015
Journal: J Cell Biol
Title: The polarity protein Inturned links NPHP4 to Daam1 to control the subapical actin network in multiciliated cells.
Volume: 211
Issue: 5
Pages: 963-73
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Allele
Nphp4<nmf192> | MGI:3032515
 
Name: nephronophthisis 4 (juvenile) homolog (human); neuroscience mutagenesis facility, 192
Allele Type: Chemically induced (ENU)
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Genotype
Genotype
Symbol: Nphp4/Nphp4
Background: involves: C57BL/6J
Zygosity: hm
Has Mutant Allele: true
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GO Term
GO:1990957 | NPHP complex
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Publication
28459465 | J:248107
First Author: Yang N
Year: 2017
Journal: Oncogene
Title: INTU is essential for oncogenic Hh signaling through regulating primary cilia formation in basal cell carcinoma.
Volume: 36
Issue: 35
Pages: 4997-5005
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Protein Domain
IPR039151 | INTU
Type: Family
Description: Protein inturned is a cilia and planar polarity effector, performing prominent ciliogenic functions during morphogenesis []. It links NPHP4 to Daam1 to control the subapical actin network in multiciliated cells []. Homologues are found only in metazoa.
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Publication
28134340 | J:244178
 
First Author: Schou KB
Year: 2017
Journal: Nat Commun
Title: KIF13B establishes a CAV1-enriched microdomain at the ciliary transition zone to promote Sonic hedgehog signalling.
Volume: 8
Pages: 14177
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Publication
12872122 | J:91453
First Author: Olbrich H
Year: 2003
Journal: Nat Genet
Title: Mutations in a novel gene, NPHP3, cause adolescent nephronophthisis, tapeto-retinal degeneration and hepatic fibrosis.
Volume: 34
Issue: 4
Pages: 455-9
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Publication
30924157 | J:279825
First Author: Zhang X
Year: 2019
Journal: J Cell Physiol
Title: Disease mechanisms and neuroprotection by tauroursodeoxycholic acid in Rpgr knockout mice.
Volume: 234
Issue: 10
Pages: 18801-18812
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Protein
A0A0N4SUY7
Organism: Mus musculus/domesticus
Length: 258  
Fragment?: true
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Publication
22825473 | J:315239
 
First Author: Patil H
Year: 2012
Journal: Cell Death Dis
Title: Selective loss of RPGRIP1-dependent ciliary targeting of NPHP4, RPGR and SDCCAG8 underlies the degeneration of photoreceptor neurons.
Volume: 3
Pages: e355
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Protein
Q059U7
Organism: Mus musculus/domesticus
Length: 942  
Fragment?: false
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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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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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