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Search results 101 to 200 out of 205 for Rab28

0.028s
Type Details Score
Publication    
First Author: Castro JP
Year: 2019
Journal: Elife
Title: An integrative genomic analysis of the Longshanks selection experiment for longer limbs in mice.
Volume: 8
Publication
First Author: Verzi MP
Year: 2009
Journal: Gastroenterology
Title: Role of the homeodomain transcription factor Bapx1 in mouse distal stomach development.
Volume: 136
Issue: 5
Pages: 1701-10
Publication
First Author: Peng G
Year: 2016
Journal: Dev Cell
Title: Spatial Transcriptome for the Molecular Annotation of Lineage Fates and Cell Identity in Mid-gastrula Mouse Embryo.
Volume: 36
Issue: 6
Pages: 681-97
Publication
First Author: Licatalosi DD
Year: 2012
Journal: Genes Dev
Title: Ptbp2 represses adult-specific splicing to regulate the generation of neuronal precursors in the embryonic brain.
Volume: 26
Issue: 14
Pages: 1626-42
Publication  
First Author: Hughes DS
Year: 2009
Journal: BMC Dev Biol
Title: Extensive molecular differences between anterior- and posterior-half-sclerotomes underlie somite polarity and spinal nerve segmentation.
Volume: 9
Pages: 30
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: 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: 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: Mouse Genome Informatics Scientific Curators
Year: 2002
Title: MGC Data curation in Mouse Genome Informatics
Publication      
First Author: Mouse Genome Informatics Scientific Curators
Year: 2003
Journal: Database Download
Title: Integrating Computational Gene Models into the Mouse Genome Informatics (MGI) Database
Publication      
First Author: The Jackson Laboratory
Year: 2012
Journal: MGI Direct Data Submission
Title: Alleles produced for the KOMP project by The Jackson Laboratory
Publication      
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)
Publication
First Author: Stryke D
Year: 2003
Journal: Nucleic Acids Res
Title: BayGenomics: a resource of insertional mutations in mouse embryonic stem cells.
Volume: 31
Issue: 1
Pages: 278-81
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: 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: 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: The Gene Ontology Consortium
Year: 2014
Title: Automated transfer of experimentally-verified manual GO annotation data to mouse-rat orthologs
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: DDB, FB, MGI, GOA, ZFIN curators
Year: 2001
Title: Gene Ontology annotation through association of InterPro records with GO terms
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: Carninci P
Year: 2005
Journal: Science
Title: The transcriptional landscape of the mammalian genome.
Volume: 309
Issue: 5740
Pages: 1559-63
Publication
First Author: Adams DJ
Year: 2024
Journal: Nature
Title: Genetic determinants of micronucleus formation in vivo.
Volume: 627
Issue: 8002
Pages: 130-136
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: GemPharmatech
Year: 2020
Title: GemPharmatech Website.
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: 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: Cyagen Biosciences Inc.
Year: 2022
Title: Cyagen Biosciences Website.
Publication        
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
Publication        
First Author: UniProt-GOA
Year: 2012
Title: Gene Ontology annotation based on UniProtKB/Swiss-Prot keyword mapping
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: The Gene Ontology Consortium
Year: 2010
Title: Automated transfer of experimentally-verified manual GO annotation data to mouse-human orthologs
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: 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: 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: 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 (MGI) and The National Center for Biotechnology Information (NCBI)
Year: 2010
Journal: Database Download
Title: Consensus CDS project
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: 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: Brauers A
Year: 1996
Journal: Eur J Biochem
Title: Alternative mRNA splicing of the novel GTPase Rab28 generates isoforms with different C-termini.
Volume: 237
Issue: 3
Pages: 833-40
Allele
Name: RAB28, member RAS oncogene family; endonuclease-mediated mutation 1, Shanghai Model Organisms Center
Allele Type: Endonuclease-mediated
Attribute String: Null/knockout
Allele
Name: RAB28, member RAS oncogene family; targeted mutation 1d, Wellcome Trust Sanger Institute
Allele Type: Targeted
Attribute String: Null/knockout
Allele
Name: RAB28, member RAS oncogene family; targeted mutation 1d, Helmholtz Zentrum Muenchen GmbH
Allele Type: Targeted
Attribute String: Null/knockout
Strain
Attribute String: coisogenic, endonuclease-mediated mutation, mutant strain
Interaction Experiment
Description: The small GTPase RAB28 is required for phagocytosis of cone outer segments by the murine retinal pigmented epithelium.
Genotype
Symbol: Rab28/Rab28
Background: involves: C57BL/6 * C57BL/6J * C57BL/6N
Zygosity: hm
Has Mutant Allele: true
Genotype
Symbol: Rab28/Rab28
Background: involves: C57BL/6 * C57BL/6J * C57BL/6N
Zygosity: hm
Has Mutant Allele: true
DO Term
Publication
First Author: Fukuda M
Year: 2002
Journal: J Biol Chem
Title: Slac2-a/melanophilin, the missing link between Rab27 and myosin Va: implications of a tripartite protein complex for melanosome transport.
Volume: 277
Issue: 14
Pages: 12432-6
Publication
First Author: Senderek J
Year: 2003
Journal: Hum Mol Genet
Title: Mutation of the SBF2 gene, encoding a novel member of the myotubularin family, in Charcot-Marie-Tooth neuropathy type 4B2/11p15.
Volume: 12
Issue: 3
Pages: 349-56
Publication
First Author: Jean S
Year: 2015
Journal: EMBO Rep
Title: Starvation-induced MTMR13 and RAB21 activity regulates VAMP8 to promote autophagosome-lysosome fusion.
Volume: 16
Issue: 3
Pages: 297-311
Protein Domain
Type: Domain
Description: This domain is found in eukaryotes, and is approximately 220 amino acids in length. It is found in association with , . It is found is the middle region of SBF1 and SBF2, members of the myotubularin family. Myotubularin-related proteins have been suggested to work in phosphoinositide-mediated signalling events that may also convey control of myelination. Mutations of SBF2 are implicated in Charcot-Marie-Tooth disease []. SBF2 is a guanine nucleotide exchange factor (GEF) which activates RAB21 and possibly RAB28 [, ].
Protein
Organism: Mus musculus/domesticus
Length: 407  
Fragment?: false
Protein
Organism: Mus musculus/domesticus
Length: 397  
Fragment?: false
Publication
First Author: Itoh T
Year: 2006
Journal: Genes Cells
Title: Screening for target Rabs of TBC (Tre-2/Bub2/Cdc16) domain-containing proteins based on their Rab-binding activity.
Volume: 11
Issue: 9
Pages: 1023-37
Publication
First Author: Kuroda TS
Year: 2002
Journal: J Biol Chem
Title: The Slp homology domain of synaptotagmin-like proteins 1-4 and Slac2 functions as a novel Rab27A binding domain.
Volume: 277
Issue: 11
Pages: 9212-8
Publication
First Author: Xie S
Year: 2024
Journal: Genes Dis
Title: Cerebral furin deficiency causes hydrocephalus in mice.
Volume: 11
Issue: 3
Pages: 101009
Protein Domain
Type: Family
Description: Myotubularin-related protein 13 (MTMR13), also known as SET-binding factor 2 (SBF2), belongs to the myotubularin family. It may function as a guanine nucleotide exchange factor (GEF) that activates Rab28 (a Rab GTPase) []. Loss of MTMR13 leads to the Charcot-Marie-Tooth 4B (CMT4B) peripheral neuropathy, which is a recessive demyelinating form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system [, ].The family of myotubularin (MTM) phosphoinositide phosphatases includes catalytically inactive members, or pseudophosphatases, which contain inactivating substitutions in the phosphatase domain. MTMR13 is one of them. MTMR13 exists in cells independently as a homodimer, as well as in complex with a homodimer of MTMR2. Association with MTMR2 dramatically increases MTMR2 enzymatic activity [].
Publication
First Author: Berger P
Year: 2006
Journal: Hum Mol Genet
Title: Multi-level regulation of myotubularin-related protein-2 phosphatase activity by myotubularin-related protein-13/set-binding factor-2.
Volume: 15
Issue: 4
Pages: 569-79
Publication
First Author: Robinson FL
Year: 2008
Journal: Proc Natl Acad Sci U S A
Title: Loss of the inactive myotubularin-related phosphatase Mtmr13 leads to a Charcot-Marie-Tooth 4B2-like peripheral neuropathy in mice.
Volume: 105
Issue: 12
Pages: 4916-21
Publication
First Author: Fukuda M
Year: 2003
Journal: J Biol Chem
Title: Distinct Rab binding specificity of Rim1, Rim2, rabphilin, and Noc2. Identification of a critical determinant of Rab3A/Rab27A recognition by Rim2.
Volume: 278
Issue: 17
Pages: 15373-80
Publication
First Author: Yoshimura S
Year: 2010
Journal: J Cell Biol
Title: Family-wide characterization of the DENN domain Rab GDP-GTP exchange factors.
Volume: 191
Issue: 2
Pages: 367-81
Protein Domain
Type: Domain
Description: Myotubularin-related protein 13 (MTMR13), also known as SET-binding factor 2 (SBF2), belongs to the myotubularin family. It may function as a guanine nucleotide exchange factor (GEF) that activates Rab28 (a Rab GTPase) []. Loss of MTMR13 leads to the Charcot-Marie-Tooth 4B (CMT4B) peripheral neuropathy, which is a recessive demyelinating form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system [, ].The family of myotubularin (MTM) phosphoinositide phosphatases includes catalytically inactive members, or pseudophosphatases, which contain inactivating substitutions in the phosphatase domain. MTMR13 is one of them. MTMR13 exists in cells independently as a homodimer, as well as in complex with a homodimer of MTMR2. Association with MTMR2 dramatically increases MTMR2 enzymatic activity []. MTMR13 contain an N-terminal DENN domain, a PH-GRAM domain, an inactive PTP domain, a SET interaction domain, a coiled-coil domain, and a C-terminal PH domain. The GRAM domain, found in myotubularins, glucosyltransferases, and other putative membrane-associated proteins, is part of a larger motif with a pleckstrin homology (PH) domain fold. This entry represents the PH-GRAM domain of MTMR13.
Protein
Organism: Mus musculus/domesticus
Length: 176  
Fragment?: true
Protein
Organism: Mus musculus/domesticus
Length: 177  
Fragment?: true
Publication
First Author: Nakhro K
Year: 2013
Journal: Neurology
Title: SET binding factor 1 (SBF1) mutation causes Charcot-Marie-Tooth disease type 4B3.
Volume: 81
Issue: 2
Pages: 165-73
Publication
First Author: Kim SA
Year: 2003
Journal: Proc Natl Acad Sci U S A
Title: Regulation of myotubularin-related (MTMR)2 phosphatidylinositol phosphatase by MTMR5, a catalytically inactive phosphatase.
Volume: 100
Issue: 8
Pages: 4492-7
Publication
First Author: Mruk DD
Year: 2011
Journal: Biochem J
Title: The myotubularin family of lipid phosphatases in disease and in spermatogenesis.
Volume: 433
Issue: 2
Pages: 253-62
Protein Domain
Type: Family
Description: Myotubularin-related protein 5 (MTMR5), also known as SET-binding factor 1 (SBF1), belongs to the myotubularin family and is a pseudophosphatase. It lacks several amino acids in the catalytic pocket which renders it catalytically inactive as a phosphatase. It interacts with MTMR2. Through this interaction, MTMR5 increases the enzymatic activity of MTMR2 and dictates its subcellular localisation []. MTMR2 and MTMR5 are highly expressed in the testis, and could have a role in spermatogenesis []. MTMR5 may also function as a guanine nucleotide exchange factor (GEF) that activates Rab28 (a Rab GTPase) []. Mutations in MTMR5/SBF1 cause Charcot-Marie-Tooth disease type 4B3 (CMT4B3), which is a disorder of the peripheral nervous system [].The myotubularin family constitutes a large group of conserved proteins, with 14 members in humans consisting of myotubularin (MTM1) and 13 myotubularin-related proteins (MTMR1-MTMR13). Orthologues have been found throughout the eukaryotic kingdom, but not in bacteria. MTM1 dephosphorylates phosphatidylinositol 3-monophosphate (PI3P) to phosphatidylinositol and phosphatidylinositol 3,5-bisphosphate [PI(3,5)P2]to phosphatidylinositol 5-monophosphate (PI5P) [, ]. The substrate phosphoinositides (PIs) are known to regulate traffic within the endosomal-lysosomal pathway []. MTMR1, MTMR2, MTMR3, MTMR4, and MTMR6 have also been shown to utilise PI(3)P as a substrate, suggesting that this activity is intrinsic to all active family members. On the other hand, six of the MTM family members encode for catalytically inactive phosphatases. Inactive myotubularin phosphatases contain substitutions in the Cys and Arg residues of the Cys-X5-Arg motif. MTM pseudophosphatases have been found to interact with MTM catalytic phosphatases []. The myotubularin family includes several members mutated in neuromuscular diseases or associated with metabolic syndrome, obesity, and cancer [].
Publication
First Author: Robinson FL
Year: 2005
Journal: J Biol Chem
Title: The phosphoinositide-3-phosphatase MTMR2 associates with MTMR13, a membrane-associated pseudophosphatase also mutated in type 4B Charcot-Marie-Tooth disease.
Volume: 280
Issue: 36
Pages: 31699-707
Protein
Organism: Mus musculus/domesticus
Length: 572  
Fragment?: false
Protein
Organism: Mus musculus/domesticus
Length: 668  
Fragment?: false
Protein
Organism: Mus musculus/domesticus
Length: 245  
Fragment?: true
Protein
Organism: Mus musculus/domesticus
Length: 339  
Fragment?: true
Protein
Organism: Mus musculus/domesticus
Length: 198  
Fragment?: true
Protein
Organism: Mus musculus/domesticus
Length: 204  
Fragment?: true
Protein
Organism: Mus musculus/domesticus
Length: 408  
Fragment?: false
Protein
Organism: Mus musculus/domesticus
Length: 456  
Fragment?: true
Protein
Organism: Mus musculus/domesticus
Length: 257  
Fragment?: true
Protein
Organism: Mus musculus/domesticus
Length: 1872  
Fragment?: false
Protein
Organism: Mus musculus/domesticus
Length: 1826  
Fragment?: false
Protein
Organism: Mus musculus/domesticus
Length: 618  
Fragment?: true
Protein
Organism: Mus musculus/domesticus
Length: 389  
Fragment?: true
Protein
Organism: Mus musculus/domesticus
Length: 403  
Fragment?: false
Protein
Organism: Mus musculus/domesticus
Length: 415  
Fragment?: true
Protein
Organism: Mus musculus/domesticus
Length: 1867  
Fragment?: false
Publication
First Author: Taylor GS
Year: 2000
Journal: Proc Natl Acad Sci U S A
Title: Myotubularin, a protein tyrosine phosphatase mutated in myotubular myopathy, dephosphorylates the lipid second messenger, phosphatidylinositol 3-phosphate.
Volume: 97
Issue: 16
Pages: 8910-5
Publication
First Author: Blondeau F
Year: 2000
Journal: Hum Mol Genet
Title: Myotubularin, a phosphatase deficient in myotubular myopathy, acts on phosphatidylinositol 3-kinase and phosphatidylinositol 3-phosphate pathway.
Volume: 9
Issue: 15
Pages: 2223-9
Publication
First Author: Hnia K
Year: 2012
Journal: Trends Mol Med
Title: Myotubularin phosphoinositide phosphatases: cellular functions and disease pathophysiology.
Volume: 18
Issue: 6
Pages: 317-27
Publication
First Author: Robinson FL
Year: 2006
Journal: Trends Cell Biol
Title: Myotubularin phosphatases: policing 3-phosphoinositides.
Volume: 16
Issue: 8
Pages: 403-12
Publication
First Author: Lorenzo O
Year: 2006
Journal: J Cell Sci
Title: Systematic analysis of myotubularins: heteromeric interactions, subcellular localisation and endosome related functions.
Volume: 119
Issue: Pt 14
Pages: 2953-9