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Search results 201 to 300 out of 315 for Rap1gap

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Type Details Score
GXD Expression  
Probe: MGI:4416266
Assay Type: RNA in situ
Annotation Date: 2010-09-14
Strength: Weak
Sex: Not Specified
Emaps: EMAPS:1689423
Pattern: Regionally restricted
Stage: TS23
Assay Id: MGI:4827607
Age: embryonic day 14.5
Image: euxassay_010532_19
Specimen Label: euxassay_010532_19
Detected: true
Specimen Num: 19
GXD Expression  
Probe: MGI:4416266
Assay Type: RNA in situ
Annotation Date: 2010-09-14
Strength: Weak
Sex: Not Specified
Emaps: EMAPS:1689423
Pattern: Regionally restricted
Stage: TS23
Assay Id: MGI:4827607
Age: embryonic day 14.5
Image: euxassay_010532_20
Specimen Label: euxassay_010532_20
Detected: true
Specimen Num: 20
GXD Expression  
Probe: MGI:4416266
Assay Type: RNA in situ
Annotation Date: 2010-09-14
Strength: Weak
Sex: Not Specified
Emaps: EMAPS:1689423
Pattern: Regionally restricted
Stage: TS23
Assay Id: MGI:4827607
Age: embryonic day 14.5
Image: euxassay_010532_21
Specimen Label: euxassay_010532_21
Detected: true
Specimen Num: 21
GXD Expression  
Probe: MGI:4416266
Assay Type: RNA in situ
Annotation Date: 2010-09-14
Strength: Weak
Sex: Not Specified
Emaps: EMAPS:1689423
Pattern: Regionally restricted
Stage: TS23
Assay Id: MGI:4827607
Age: embryonic day 14.5
Image: euxassay_010532_22
Specimen Label: euxassay_010532_22
Detected: true
Specimen Num: 22
GXD Expression  
Probe: MGI:4416266
Assay Type: RNA in situ
Annotation Date: 2010-09-14
Strength: Weak
Sex: Not Specified
Emaps: EMAPS:1689423
Pattern: Regionally restricted
Stage: TS23
Assay Id: MGI:4827607
Age: embryonic day 14.5
Image: euxassay_010532_23
Specimen Label: euxassay_010532_23
Detected: true
Specimen Num: 23
GXD Expression  
Probe: MGI:4416266
Assay Type: RNA in situ
Annotation Date: 2010-09-14
Strength: Weak
Sex: Not Specified
Emaps: EMAPS:1763923
Pattern: Regionally restricted
Stage: TS23
Assay Id: MGI:4827607
Age: embryonic day 14.5
Image: euxassay_010532_07
Specimen Label: euxassay_010532_07
Detected: true
Specimen Num: 7
GXD Expression  
Probe: MGI:4416266
Assay Type: RNA in situ
Annotation Date: 2010-09-14
Strength: Weak
Sex: Not Specified
Emaps: EMAPS:1763923
Pattern: Regionally restricted
Stage: TS23
Assay Id: MGI:4827607
Age: embryonic day 14.5
Image: euxassay_010532_08
Specimen Label: euxassay_010532_08
Detected: true
Specimen Num: 8
GXD Expression  
Probe: MGI:4416266
Assay Type: RNA in situ
Annotation Date: 2010-09-14
Strength: Weak
Sex: Not Specified
Emaps: EMAPS:1763923
Pattern: Regionally restricted
Stage: TS23
Assay Id: MGI:4827607
Age: embryonic day 14.5
Image: euxassay_010532_09
Specimen Label: euxassay_010532_09
Detected: true
Specimen Num: 9
GXD Expression  
Probe: MGI:4416266
Assay Type: RNA in situ
Annotation Date: 2010-09-14
Strength: Weak
Sex: Not Specified
Emaps: EMAPS:1763923
Pattern: Regionally restricted
Stage: TS23
Assay Id: MGI:4827607
Age: embryonic day 14.5
Image: euxassay_010532_13
Specimen Label: euxassay_010532_13
Detected: true
Specimen Num: 13
GXD Expression  
Probe: MGI:4416266
Assay Type: RNA in situ
Annotation Date: 2010-09-14
Strength: Weak
Sex: Not Specified
Emaps: EMAPS:1763923
Pattern: Regionally restricted
Stage: TS23
Assay Id: MGI:4827607
Age: embryonic day 14.5
Image: euxassay_010532_15
Specimen Label: euxassay_010532_15
Detected: true
Specimen Num: 15
GXD Expression  
Probe: MGI:4416266
Assay Type: RNA in situ
Annotation Date: 2010-09-14
Strength: Weak
Sex: Not Specified
Emaps: EMAPS:1763923
Pattern: Regionally restricted
Stage: TS23
Assay Id: MGI:4827607
Age: embryonic day 14.5
Image: euxassay_010532_16
Specimen Label: euxassay_010532_16
Detected: true
Specimen Num: 16
GXD Expression  
Probe: MGI:4416266
Assay Type: RNA in situ
Annotation Date: 2010-09-14
Strength: Weak
Sex: Not Specified
Emaps: EMAPS:1763923
Pattern: Regionally restricted
Stage: TS23
Assay Id: MGI:4827607
Age: embryonic day 14.5
Image: euxassay_010532_17
Specimen Label: euxassay_010532_17
Detected: true
Specimen Num: 17
GXD Expression  
Probe: MGI:4416266
Assay Type: RNA in situ
Annotation Date: 2010-09-14
Strength: Weak
Sex: Not Specified
Emaps: EMAPS:1763923
Pattern: Regionally restricted
Stage: TS23
Assay Id: MGI:4827607
Age: embryonic day 14.5
Image: euxassay_010532_18
Specimen Label: euxassay_010532_18
Detected: true
Specimen Num: 18
GXD Expression  
Probe: MGI:4416266
Assay Type: RNA in situ
Annotation Date: 2010-09-14
Strength: Moderate
Sex: Not Specified
Emaps: EMAPS:1625523
Pattern: Regionally restricted
Stage: TS23
Assay Id: MGI:4827607
Age: embryonic day 14.5
Image: euxassay_010532_06
Specimen Label: euxassay_010532_06
Detected: true
Specimen Num: 6
GXD Expression  
Probe: MGI:4416266
Assay Type: RNA in situ
Annotation Date: 2010-09-14
Strength: Moderate
Sex: Not Specified
Emaps: EMAPS:1625523
Pattern: Regionally restricted
Stage: TS23
Assay Id: MGI:4827607
Age: embryonic day 14.5
Image: euxassay_010532_07
Specimen Label: euxassay_010532_07
Detected: true
Specimen Num: 7
GXD Expression  
Probe: MGI:4416266
Assay Type: RNA in situ
Annotation Date: 2010-09-14
Strength: Moderate
Sex: Not Specified
Emaps: EMAPS:1625523
Pattern: Regionally restricted
Stage: TS23
Assay Id: MGI:4827607
Age: embryonic day 14.5
Image: euxassay_010532_08
Specimen Label: euxassay_010532_08
Detected: true
Specimen Num: 8
GXD Expression  
Probe: MGI:4416266
Assay Type: RNA in situ
Annotation Date: 2010-09-14
Strength: Moderate
Sex: Not Specified
Emaps: EMAPS:1625523
Pattern: Regionally restricted
Stage: TS23
Assay Id: MGI:4827607
Age: embryonic day 14.5
Image: euxassay_010532_09
Specimen Label: euxassay_010532_09
Detected: true
Specimen Num: 9
GXD Expression  
Probe: MGI:4416266
Assay Type: RNA in situ
Annotation Date: 2010-09-14
Strength: Moderate
Sex: Not Specified
Emaps: EMAPS:1625523
Pattern: Regionally restricted
Stage: TS23
Assay Id: MGI:4827607
Age: embryonic day 14.5
Image: euxassay_010532_10
Specimen Label: euxassay_010532_10
Detected: true
Specimen Num: 10
GXD Expression  
Probe: MGI:4416266
Assay Type: RNA in situ
Annotation Date: 2010-09-14
Strength: Weak
Sex: Not Specified
Emaps: EMAPS:1625523
Pattern: Regionally restricted
Stage: TS23
Assay Id: MGI:4827607
Age: embryonic day 14.5
Image: euxassay_010532_11
Specimen Label: euxassay_010532_11
Detected: true
Specimen Num: 11
GXD Expression  
Probe: MGI:4416266
Assay Type: RNA in situ
Annotation Date: 2010-09-14
Strength: Weak
Sex: Not Specified
Emaps: EMAPS:1625523
Pattern: Regionally restricted
Stage: TS23
Assay Id: MGI:4827607
Age: embryonic day 14.5
Image: euxassay_010532_12
Specimen Label: euxassay_010532_12
Detected: true
Specimen Num: 12
GXD Expression  
Probe: MGI:4416266
Assay Type: RNA in situ
Annotation Date: 2010-09-14
Strength: Moderate
Sex: Not Specified
Emaps: EMAPS:1625523
Pattern: Regionally restricted
Stage: TS23
Assay Id: MGI:4827607
Age: embryonic day 14.5
Image: euxassay_010532_13
Specimen Label: euxassay_010532_13
Detected: true
Specimen Num: 13
GXD Expression  
Probe: MGI:4416266
Assay Type: RNA in situ
Annotation Date: 2010-09-14
Strength: Weak
Sex: Not Specified
Emaps: EMAPS:1625523
Pattern: Regionally restricted
Stage: TS23
Assay Id: MGI:4827607
Age: embryonic day 14.5
Image: euxassay_010532_14
Specimen Label: euxassay_010532_14
Detected: true
Specimen Num: 14
GXD Expression  
Probe: MGI:4416266
Assay Type: RNA in situ
Annotation Date: 2010-09-14
Strength: Weak
Sex: Not Specified
Emaps: EMAPS:1625523
Pattern: Regionally restricted
Stage: TS23
Assay Id: MGI:4827607
Age: embryonic day 14.5
Image: euxassay_010532_15
Specimen Label: euxassay_010532_15
Detected: true
Specimen Num: 15
Publication
First Author: Taniguchi J
Year: 2008
Journal: Cell Death Differ
Title: Rap1 is involved in the signal transduction of myelin-associated glycoprotein.
Volume: 15
Issue: 2
Pages: 408-19
Publication
First Author: Morton AM
Year: 2007
Journal: J Immunol
Title: Inverse Rap1 and phospho-ERK expression discriminate the maintenance phase of tolerance and priming of antigen-specific CD4+ T cells in vitro and in vivo.
Volume: 179
Issue: 12
Pages: 8026-34
Publication
First Author: Yoshikawa Y
Year: 2007
Journal: Mol Biol Cell
Title: The M-Ras-RA-GEF-2-Rap1 pathway mediates tumor necrosis factor-alpha dependent regulation of integrin activation in splenocytes.
Volume: 18
Issue: 8
Pages: 2949-59
Publication
First Author: Le Borgne M
Year: 2014
Journal: Development
Title: The RNA-binding protein Mex3b regulates the spatial organization of the Rap1 pathway.
Volume: 141
Issue: 10
Pages: 2096-107
Publication
First Author: Bithell A
Year: 2003
Journal: Brain Res Dev Brain Res
Title: Expression of the guanine nucleotide exchange factor, mr-gef, is regulated during the differentiation of specific subsets of telencephalic neurons.
Volume: 146
Issue: 1-2
Pages: 107-18
Publication
First Author: Obara Y
Year: 2007
Journal: J Neurochem
Title: The requirement of Ras and Rap1 for the activation of ERKs by cAMP, PACAP, and KCl in cerebellar granule cells.
Volume: 101
Issue: 2
Pages: 470-82
Publication
First Author: Ménasché G
Year: 2007
Journal: Mol Cell Biol
Title: RIAM links the ADAP/SKAP-55 signaling module to Rap1, facilitating T-cell-receptor-mediated integrin activation.
Volume: 27
Issue: 11
Pages: 4070-81
Publication
First Author: Vachon E
Year: 2007
Journal: Blood
Title: CD44-mediated phagocytosis induces inside-out activation of complement receptor-3 in murine macrophages.
Volume: 110
Issue: 13
Pages: 4492-502
Publication
First Author: Wang Y
Year: 2006
Journal: J Biol Chem
Title: Brain-derived neurotrophic factor activates ERK5 in cortical neurons via a Rap1-MEKK2 signaling cascade.
Volume: 281
Issue: 47
Pages: 35965-74
Publication
First Author: Yano M
Year: 2010
Journal: Neuron
Title: Nova2 regulates neuronal migration through an RNA switch in disabled-1 signaling.
Volume: 66
Issue: 6
Pages: 848-58
Publication
First Author: Maddala R
Year: 2015
Journal: Dev Biol
Title: Rap1 GTPase is required for mouse lens epithelial maintenance and morphogenesis.
Volume: 406
Issue: 1
Pages: 74-91
Publication    
First Author: Bebee TW
Year: 2015
Journal: Elife
Title: The splicing regulators Esrp1 and Esrp2 direct an epithelial splicing program essential for mammalian development.
Volume: 4
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: Hoffman BG
Year: 2008
Journal: Genome Biol
Title: Identification of transcripts with enriched expression in the developing and adult pancreas.
Volume: 9
Issue: 6
Pages: R99
Publication      
First Author: MGI and IMPC
Year: 2017
Journal: MGI Direct Data Submission
Title: MGI Curation of Endonuclease-Mediated Alleles (CRISPR) from the International Mouse Phenotyping Consortium (IMPC)
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: 2003
Title: Data Curation Using Mouse Genome Assembly
Publication      
First Author: Lennon G
Year: 1999
Journal: Database Download
Title: WashU-HHMI Mouse EST Project
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: 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: 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: 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: 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: Adams DJ
Year: 2024
Journal: Nature
Title: Genetic determinants of micronucleus formation in vivo.
Volume: 627
Issue: 8002
Pages: 130-136
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: Cyagen Biosciences Inc.
Year: 2022
Title: Cyagen Biosciences Website.
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: 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: 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: Kurachi H
Year: 1997
Journal: J Biol Chem
Title: Human SPA-1 gene product selectively expressed in lymphoid tissues is a specific GTPase-activating protein for Rap1 and Rap2. Segregate expression profiles from a rap1GAP gene product.
Volume: 272
Issue: 44
Pages: 28081-8
Protein
Organism: Mus musculus/domesticus
Length: 663  
Fragment?: false
Protein
Organism: Mus musculus/domesticus
Length: 694  
Fragment?: false
Protein
Organism: Mus musculus/domesticus
Length: 665  
Fragment?: false
Protein
Organism: Mus musculus/domesticus
Length: 727  
Fragment?: false
Allele
Name: Rap1 GTPase-activating protein; targeted mutation 1, Shanghai Model Organisms Center
Allele Type: Targeted
Attribute String: Conditional ready, No functional change
Allele
Name: transgene insertion 1, Jack Arbiser
Allele Type: Transgenic
Attribute String: Inserted expressed sequence
Strain
Attribute String: transgenic, mutant strain, coisogenic
Publication
First Author: Govindarajan B
Year: 2005
Journal: J Biol Chem
Title: Transgenic expression of dominant negative tuberin through a strong constitutive promoter results in a tissue-specific tuberous sclerosis phenotype in the skin and brain.
Volume: 280
Issue: 7
Pages: 5870-4
Publication
First Author: Chévere-Torres I
Year: 2012
Journal: Neurobiol Dis
Title: Impaired social interactions and motor learning skills in tuberous sclerosis complex model mice expressing a dominant/negative form of tuberin.
Volume: 45
Issue: 1
Pages: 156-64
Strain
Attribute String: coisogenic, targeted mutation, mutant strain
Genotype
Symbol: Tg(CMV-Tsc2*)1Arbi/?
Background: involves: C57BL/6
Zygosity: ot
Has Mutant Allele: true
Publication
First Author: Chévere-Torres I
Year: 2012
Journal: Neurobiol Dis
Title: Metabotropic glutamate receptor-dependent long-term depression is impaired due to elevated ERK signaling in the ΔRG mouse model of tuberous sclerosis complex.
Volume: 45
Issue: 3
Pages: 1101-10
Publication
First Author: Bhatia B
Year: 2009
Journal: Cancer Res
Title: Tuberous sclerosis complex suppression in cerebellar development and medulloblastoma: separate regulation of mammalian target of rapamycin activity and p27 Kip1 localization.
Volume: 69
Issue: 18
Pages: 7224-34
Publication
First Author: Wada Y
Year: 1997
Journal: Genomics
Title: Mitogen-inducible SIPA1 is mapped to the conserved syntenic groups of chromosome 19 in mouse and chromosome 11q13.3 centromeric to BCL1 in human.
Volume: 39
Issue: 1
Pages: 66-73
Publication
First Author: Sowell RT
Year: 2017
Journal: J Immunol
Title: IL-15 Complexes Induce Migration of Resting Memory CD8 T Cells into Mucosal Tissues.
Volume: 199
Issue: 7
Pages: 2536-2546
Publication
First Author: Baron J
Year: 2013
Journal: J Neurochem
Title: The α-subunit of the trimeric GTPase Go2 regulates axonal growth.
Volume: 124
Issue: 6
Pages: 782-94
Publication
First Author: Niola F
Year: 2013
Journal: J Clin Invest
Title: Mesenchymal high-grade glioma is maintained by the ID-RAP1 axis.
Volume: 123
Issue: 1
Pages: 405-17
Publication
First Author: Muro R
Year: 2015
Journal: PLoS One
Title: The Ras GTPase-activating protein Rasal3 supports survival of naive T cells.
Volume: 10
Issue: 3
Pages: e0119898
Publication
First Author: Battram AM
Year: 2017
Journal: J Biol Chem
Title: The Phosphatidylinositol 3,4,5-trisphosphate (PI(3,4,5)P3) Binder Rasa3 Regulates Phosphoinositide 3-kinase (PI3K)-dependent Integrin αIIbβ3 Outside-in Signaling.
Volume: 292
Issue: 5
Pages: 1691-1704
Publication  
First Author: Lin YH
Year: 2021
Journal: Neurochem Int
Title: Accumbal D2R-medium spiny neurons regulate aversive behaviors through PKA-Rap1 pathway.
Volume: 143
Pages: 104935
Publication  
First Author: Zhang X
Year: 2019
Journal: Neurochem Int
Title: Balance between dopamine and adenosine signals regulates the PKA/Rap1 pathway in striatal medium spiny neurons.
Volume: 122
Pages: 8-18
Publication
First Author: Takahashi M
Year: 2008
Journal: Genes Cells
Title: Sequential activation of Rap1 and Rac1 small G proteins by PDGF locally at leading edges of NIH3T3 cells.
Volume: 13
Issue: 6
Pages: 549-69
Publication
First Author: van Slegtenhorst M
Year: 1998
Journal: Hum Mol Genet
Title: Interaction between hamartin and tuberin, the TSC1 and TSC2 gene products.
Volume: 7
Issue: 6
Pages: 1053-7
Publication
First Author: Xu L
Year: 1995
Journal: Genomics
Title: Alternative splicing of the tuberous sclerosis 2 (TSC2) gene in human and mouse tissues.
Volume: 27
Issue: 3
Pages: 475-80
Protein Domain
Type: Family
Description: Tuberous sclerosis (TSC) is an autosomal dominant disorder caused by a mutation in either the TSC1 or TSC2 tumour suppressor genes. The disease ischaracterised by hamartomas in one or more organs (including brain, skin,heart and kidney) giving rise to a broad phenotypic spectrum (including seizures, mental retardation, renal dysfunction and dermatological abnormalities. TSC2 encodes tuberin, a putative GTPase activatingprotein for rap1 and rab5. The TSC1 gene was recently identified and codesfor hamartin, a novel protein with no significant similarity to tuberin orany other known vertebrate protein []. Hamartin and tuberin have been shown to associate physically in vivo, their interaction being mediated by predicted coiled-coil domains. It is thought that hamartin and tuberin function in the same complex, rather than in separate pathways.Moreover, because oligomerisation of the hamartin C-terminal coiled coildomain is inhibited by the presence of tuberin, it is possible that tuberinacts as a chaperone, preventing hamartin self-aggregation [].Tuberin is a widely expressed 1784-amino-acid protein. Expression of the wild-type gene in TSC2 mutant tumour cells inhibits proliferation andtumorigenicity. This "suppressor"activity is encoded by a functionaldomain in the C terminus that shares similarity with the GTPase activatingprotein Rap1GAP []. It is thought that tuberin functions as a Rab5GAP in vivo to negatively regulate Rab5-GTP activity in endocytosis []. It also acts as a GTPase-activating protein (GAP) for the small GTPase RheB, a direct activator of the protein kinase activity of mTORC1 [, ].
Publication
First Author: Li Y
Year: 2004
Journal: Mol Cell Biol
Title: Biochemical and functional characterizations of small GTPase Rheb and TSC2 GAP activity.
Volume: 24
Issue: 18
Pages: 7965-75