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Search results 1 to 100 out of 106 for Bbs5

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0.036s
Type Details Score
Gene
Type: gene
Organism: human
Gene
Type: gene
Organism: cattle
Gene
Type: gene
Organism: chicken
Gene
Type: gene
Organism: zebrafish
Gene
Type: gene
Organism: macaque, rhesus
Gene
Type: gene
Organism: frog, western clawed
Gene
Type: gene
Organism: rat
Gene
Type: gene
Organism: dog, domestic
Gene
Type: gene
Organism: chimpanzee
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
GXD Expression      
Probe: MGI:7606841
Assay Type: Immunohistochemistry
Annotation Date: 2024-02-27
Strength: Absent
Sex: Not Specified
Emaps: EMAPS:3275717
Stage: TS17
Assay Id: MGI:7606879
Age: embryonic day 10.5
Specimen Label: 5B +/+ Bbs5
Detected: false
Specimen Num: 1
GXD Expression  
Probe: MGI:7606841
Assay Type: Immunohistochemistry
Annotation Date: 2024-02-27
Strength: Strong
Sex: Not Specified
Emaps: EMAPS:3275717
Pattern: Regionally restricted
Stage: TS17
Assay Id: MGI:7606879
Age: embryonic day 10.5
Note: Expression highly enriched in cilia.
Specimen Label: 5B -/- Bbs5
Detected: true
Specimen Num: 2
Publication
First Author: Li JB
Year: 2004
Journal: Cell
Title: Comparative genomics identifies a flagellar and basal body proteome that includes the BBS5 human disease gene.
Volume: 117
Issue: 4
Pages: 541-52
Publication
First Author: Bales KL
Year: 2020
Journal: Invest Ophthalmol Vis Sci
Title: BBSome Component BBS5 Is Required for Cone Photoreceptor Protein Trafficking and Outer Segment Maintenance.
Volume: 61
Issue: 10
Pages: 17
Publication
First Author: Bentley-Ford MR
Year: 2021
Journal: Hum Mol Genet
Title: A mouse model of BBS identifies developmental and homeostatic effects of BBS5 mutation and identifies novel pituitary abnormalities.
Volume: 30
Issue: 3-4
Pages: 234-246
Publication
First Author: Seo S
Year: 2011
Journal: PLoS Genet
Title: A novel protein LZTFL1 regulates ciliary trafficking of the BBSome and Smoothened.
Volume: 7
Issue: 11
Pages: e1002358
Publication
First Author: Kretschmer V
Year: 2019
Journal: Invest Ophthalmol Vis Sci
Title: Progressive Characterization of Visual Phenotype in Bardet-Biedl Syndrome Mutant Mice.
Volume: 60
Issue: 4
Pages: 1132-1143
Publication
First Author: Chamling X
Year: 2014
Journal: PLoS Genet
Title: The centriolar satellite protein AZI1 interacts with BBS4 and regulates ciliary trafficking of the BBSome.
Volume: 10
Issue: 2
Pages: e1004083
Publication
First Author: Probert F
Year: 2015
Journal: J Proteome Res
Title: ¹H NMR metabolic profiling of plasma reveals additional phenotypes in knockout mouse models.
Volume: 14
Issue: 5
Pages: 2036-45
DO Term
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus caroli
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus pahari
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus spretus
GXD Expression    
Assay Type: In situ reporter (knock in)
Annotation Date: 2021-04-16
Strength: Present
Sex: Male
Emaps: EMAPS:1797228
Pattern: Not Specified
Stage: TS28
Assay Id: MGI:6692020
Age: postnatal adult
Image: MRC Harwell_219759
Specimen Label: MRC Harwell_219759
Detected: true
Specimen Num: 2
GXD Expression    
Assay Type: In situ reporter (knock in)
Annotation Date: 2021-04-16
Strength: Present
Sex: Female
Emaps: EMAPS:1757728
Pattern: Not Specified
Stage: TS28
Assay Id: MGI:6692020
Age: postnatal adult
Image: MRC Harwell_219757
Specimen Label: MRC Harwell_219757
Detected: true
Specimen Num: 1
GXD Expression    
Assay Type: In situ reporter (knock in)
Annotation Date: 2021-04-16
Strength: Present
Sex: Male
Emaps: EMAPS:1689428
Pattern: Not Specified
Stage: TS28
Assay Id: MGI:6692020
Age: postnatal adult
Image: MRC Harwell_219761
Specimen Label: MRC Harwell_219761
Detected: true
Specimen Num: 3
GXD Expression    
Assay Type: In situ reporter (knock in)
Annotation Date: 2021-04-16
Strength: Present
Sex: Male
Emaps: EMAPS:1689428
Pattern: Not Specified
Stage: TS28
Assay Id: MGI:6692020
Age: postnatal adult
Image: MRC Harwell_219763
Specimen Label: MRC Harwell_219763
Detected: true
Specimen Num: 4
Publication
First Author: Haq N
Year: 2019
Journal: PLoS Biol
Title: Loss of Bardet-Biedl syndrome proteins causes synaptic aberrations in principal neurons.
Volume: 17
Issue: 9
Pages: e3000414
Publication
First Author: Robichaux MA
Year: 2019
Journal: Proc Natl Acad Sci U S A
Title: Defining the layers of a sensory cilium with STORM and cryoelectron nanoscopy.
Volume: 116
Issue: 47
Pages: 23562-23572
Publication
First Author: Karlstetter M
Year: 2014
Journal: Hum Mol Genet
Title: Disruption of the retinitis pigmentosa 28 gene Fam161a in mice affects photoreceptor ciliary structure and leads to progressive retinal degeneration.
Volume: 23
Issue: 19
Pages: 5197-210
Publication
First Author: Jin H
Year: 2010
Journal: Cell
Title: The conserved Bardet-Biedl syndrome proteins assemble a coat that traffics membrane proteins to cilia.
Volume: 141
Issue: 7
Pages: 1208-19
Publication
First Author: Loktev AV
Year: 2008
Journal: Dev Cell
Title: A BBSome subunit links ciliogenesis, microtubule stability, and acetylation.
Volume: 15
Issue: 6
Pages: 854-65
Publication
First Author: Zhang Q
Year: 2012
Journal: J Biol Chem
Title: Intrinsic protein-protein interaction-mediated and chaperonin-assisted sequential assembly of stable bardet-biedl syndrome protein complex, the BBSome.
Volume: 287
Issue: 24
Pages: 20625-35
Publication
First Author: Zhang B
Year: 2017
Journal: J Biol Chem
Title: DAZ-interacting Protein 1 (Dzip1) Phosphorylation by Polo-like Kinase 1 (Plk1) Regulates the Centriolar Satellite Localization of the BBSome Protein during the Cell Cycle.
Volume: 292
Issue: 4
Pages: 1351-1360
Publication
First Author: Eguether T
Year: 2014
Journal: Dev Cell
Title: IFT27 links the BBSome to IFT for maintenance of the ciliary signaling compartment.
Volume: 31
Issue: 3
Pages: 279-90
Publication
First Author: Wei Q
Year: 2012
Journal: Nat Cell Biol
Title: The BBSome controls IFT assembly and turnaround in cilia.
Volume: 14
Issue: 9
Pages: 950-7
Publication
First Author: Forti E
Year: 2007
Journal: Int J Biochem Cell Biol
Title: Temporal expression pattern of Bardet-Biedl syndrome genes in adipogenesis.
Volume: 39
Issue: 5
Pages: 1055-62
Publication        
First Author: UniProt curators
Year: 2014
Title: Electronic Gene Ontology annotations created by transferring manual GO annotations between related proteins based on shared sequence features
Publication      
First Author: Shanghai Model Organisms Center
Year: 2017
Journal: MGI Direct Data Submission
Title: Information obtained from the Shanghai Model Organisms Center (SMOC), Shanghai, China
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: Birgit Meldal and Sandra Orchard (1). (1) European Bioinformatics Institute (EBI), Hinxton, Cambridgeshire, United Kingdom
Year: 2023
Title: Manual transfer of experimentally-verified manual GO annotation data to homologous complexes by curator judgment of sequence, composition and function similarity
Publication
First Author: Dickinson ME
Year: 2016
Journal: Nature
Title: High-throughput discovery of novel developmental phenotypes.
Volume: 537
Issue: 7621
Pages: 508-514
Publication        
First Author: Mouse Genome Informatics Scientific Curators
Year: 2001
Title: Gene Ontology Annotation by the MGI Curatorial Staff
Publication        
First Author: Mouse Genome Informatics Scientific Curators
Year: 2023
Title: TreeGrafter-generated GO annotations
Publication
First Author: Koscielny G
Year: 2014
Journal: Nucleic Acids Res
Title: The International Mouse Phenotyping Consortium Web Portal, a unified point of access for knockout mice and related phenotyping data.
Volume: 42
Issue: Database issue
Pages: D802-9
Publication      
First Author: International Knockout Mouse Consortium
Year: 2014
Journal: Database Download
Title: MGI download of modified allele data from IKMC and creation of new knockout alleles
Publication      
First Author: Velocigene
Year: 2008
Journal: MGI Direct Data Submission
Title: Alleles produced for the KOMP project by Velocigene (Regeneron Pharmaceuticals)
Publication      
First Author: Wellcome Trust Sanger Institute
Year: 2010
Journal: MGI Direct Data Submission
Title: Alleles produced for the EUCOMM and EUCOMMTools projects by the Wellcome Trust Sanger Institute
Publication      
First Author: Helmholtz Zentrum Muenchen GmbH
Year: 2010
Journal: MGI Direct Data Submission
Title: Alleles produced for the EUCOMM and EUCOMMTools projects by the Helmholtz Zentrum Muenchen GmbH (Hmgu)
Publication      
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
Publication        
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
Publication        
First Author: Mouse Genome Informatics Scientific Curators
Year: 2003
Title: MGI Sequence Curation Reference
Publication        
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
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: MGD Nomenclature Committee
Year: 1995
Title: Nomenclature Committee Use
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: Skarnes WC
Year: 2011
Journal: Nature
Title: A conditional knockout resource for the genome-wide study of mouse gene function.
Volume: 474
Issue: 7351
Pages: 337-42
Publication        
First Author: GemPharmatech
Year: 2020
Title: GemPharmatech Website.
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: 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: 2010
Title: Human to Mouse ISO GO annotation transfer
Publication        
First Author: Mouse Genome Informatics Scientific Curators
Year: 2002
Title: Mouse Genome Informatics Computational Sequence to Gene Associations
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: MGI Genome Annotation Group and UniGene Staff
Year: 2015
Journal: Database Download
Title: MGI-UniGene Interconnection Effort
Publication        
First Author: Marc Feuermann, Huaiyu Mi, Pascale Gaudet, Dustin Ebert, Anushya Muruganujan, Paul Thomas
Year: 2010
Title: Annotation inferences using phylogenetic trees
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 Group
Year: 2003
Journal: Database Procedure
Title: Automatic Encodes (AutoE) Reference
Publication      
First Author: Bairoch A
Year: 1999
Journal: Database Release
Title: SWISS-PROT Annotated protein sequence database
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 (MGI) and The National Center for Biotechnology Information (NCBI)
Year: 2010
Journal: Database Download
Title: Consensus CDS project
Publication      
First Author: Mouse Genome Informatics
Year: 2010
Journal: Database Release
Title: Protein Ontology Association Load.
Publication        
First Author: Mouse Genome Informatics Scientific Curators
Year: 2005
Title: Obtaining and loading genome assembly coordinates from NCBI annotations
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
Allele
Name: Bardet-Biedl syndrome 5; endonuclease-mediated mutation 1, Shanghai Model Organisms Center
Allele Type: Endonuclease-mediated
Attribute String: Null/knockout
Allele
Name: Bardet-Biedl syndrome 5; targeted mutation 1a, Wellcome Trust Sanger Institute
Allele Type: Targeted
Attribute String: Conditional ready, Null/knockout
Genotype
Symbol: Bbs5/Bbs5
Background: C57BL/6-Bbs5
Zygosity: hm
Has Mutant Allele: true
Protein
Organism: Mus musculus/domesticus
Length: 92  
Fragment?: true
Protein Domain
Type: Family
Description: Bardet-Biedl syndrome 5 protein (BBS5) is part of the BBSome complex that may function as a coat complex required for sorting of specific membrane proteins to the primary cilia []. Mutations in the BBS5 gene cause Bardet-Biedl syndrome 5, which is a syndrome characterised by usually severe pigmentary retinopathy, early-onset obesity, polydactyly, hypogenitalism, renal malformation and mental retardation [, ].
Protein
Organism: Mus musculus/domesticus
Length: 88  
Fragment?: false
Publication
First Author: Starostina NG
Year: 2007
Journal: Dev Cell
Title: A CUL-2 ubiquitin ligase containing three FEM proteins degrades TRA-1 to regulate C. elegans sex determination.
Volume: 13
Issue: 1
Pages: 127-39
Protein Domain
Type: Family
Description: Bardet-Biedl syndrome 5 protein (BBS5) is part of the BBSome complex that may function as a coat complex required for sorting of specific membrane proteins to the primary cilia []. Mutations in the BBS5 gene cause Bardet-Biedl syndrome 5, which is a syndrome characterised by usually severe pigmentary retinopathy, early-onset obesity, polydactyly, hypogenitalism, renal malformation and mental retardation [, ]. Also included in this family is fem-3, required for male development in Caenorhabditis elegans. Together with fem-2, fem-3 associates with the CBC(fem-1) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of tra-1, a transcription factor that is the terminal effector of the sex-determination pathway [].