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Search results 1 to 100 out of 105 for Rab3gap1

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0.066s
Type Details Score
Gene
Type: gene
Organism: human
Gene
Type: gene
Organism: rat
Gene
Type: gene
Organism: chimpanzee
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: dog, domestic
Protein Domain
Type: Family
Description: Small G proteins of the Rab family are regulators of intracellular vesicle traffic. Their rate of GTP hydrolysis is enhanced by specific GTPase-activating proteins (GAPs) that switch G proteins to their inactive form []. Rab3GAP1 (catalytic subunit) has been shown to form a heterodimeric complex with Rab3GAP2 (the regulatory subunit), and this complex acts as a guanosine nucleotide exchange factor for Rab3 subfamily (RAB3A, RAB3B, RAB3C and RAB3D). Rab3GAP complex may participate in neurodevelopmental processes such as proliferation, migration and differentiation before synapse formation, and non-synaptic vesicular release of neurotransmitters [, ]. It also activates Rab18 and promotes autolysosome maturation through the Vps34 Complex I [].Mutations in the Rab3GAP1/2 gene cause Warburg micro syndrome (WMS), a hereditary autosomal neuromuscular disorder [].
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein
Organism: Mus musculus/domesticus
Length: 981  
Fragment?: false
Protein
Organism: Mus musculus/domesticus
Length: 988  
Fragment?: false
Protein
Organism: Mus musculus/domesticus
Length: 982  
Fragment?: false
Publication
First Author: Aligianis IA
Year: 2005
Journal: Nat Genet
Title: Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndrome.
Volume: 37
Issue: 3
Pages: 221-3
Publication
First Author: Fukui K
Year: 1997
Journal: J Biol Chem
Title: Isolation and characterization of a GTPase activating protein specific for the Rab3 subfamily of small G proteins.
Volume: 272
Issue: 8
Pages: 4655-8
Publication
First Author: Oishi H
Year: 1998
Journal: J Biol Chem
Title: Localization of the Rab3 small G protein regulators in nerve terminals and their involvement in Ca2+-dependent exocytosis.
Volume: 273
Issue: 51
Pages: 34580-5
Publication
First Author: Clabecq A
Year: 2000
Journal: J Biol Chem
Title: Biochemical characterization of Rab3-GTPase-activating protein reveals a mechanism similar to that of Ras-GAP.
Volume: 275
Issue: 41
Pages: 31786-91
Publication
First Author: Takáts S
Year: 2021
Journal: FEBS J
Title: The Warburg Micro Syndrome-associated Rab3GAP-Rab18 module promotes autolysosome maturation through the Vps34 Complex I.
Volume: 288
Issue: 1
Pages: 190-211
Publication
First Author: Liegel RP
Year: 2013
Journal: Am J Hum Genet
Title: Loss-of-function mutations in TBC1D20 cause cataracts and male infertility in blind sterile mice and Warburg micro syndrome in humans.
Volume: 93
Issue: 6
Pages: 1001-14
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
Probe: MGI:3584591
Assay Type: RNA in situ
Annotation Date: 2005-08-30
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1915526
Pattern: Not Specified
Stage: TS26
Assay Id: MGI:3585812
Age: embryonic day 18.0
Image: E18
Note: Expression was detected in the inner neuroblastic layer.
Specimen Label: E18
Detected: true
Specimen Num: 4
GXD Expression
Probe: MGI:3584591
Assay Type: RNA in situ
Annotation Date: 2005-08-30
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1915527
Pattern: Regionally restricted
Stage: TS27
Assay Id: MGI:3585812
Age: postnatal day 0-1
Image: P0/1
Note: Expression was detected in the scleral inner neuroblastic layer.
Specimen Label: P0/1
Detected: true
Specimen Num: 5
GXD Expression
Probe: MGI:3584591
Assay Type: RNA in situ
Annotation Date: 2005-08-30
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1915527
Pattern: Regionally restricted
Stage: TS27
Assay Id: MGI:3585812
Age: postnatal day 2-3
Image: P2/3
Note: Expression was detected in the scleral inner neuroblastic layer.
Specimen Label: P2/3
Detected: true
Specimen Num: 6
GXD Expression    
Probe: MGI:3584591
Assay Type: RNA in situ
Annotation Date: 2005-08-30
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1915528
Pattern: Not Specified
Stage: TS28
Assay Id: MGI:3585812
Age: postnatal day 6-7
Specimen Label: P6/7
Detected: true
Specimen Num: 7
GXD Expression    
Probe: MGI:3584591
Assay Type: RNA in situ
Annotation Date: 2005-08-30
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1915528
Pattern: Not Specified
Stage: TS28
Assay Id: MGI:3585812
Age: postnatal day 8-10
Specimen Label: P8/10
Detected: true
Specimen Num: 8
GXD Expression  
Probe: MGI:3584591
Assay Type: RNA in situ
Annotation Date: 2005-08-30
Strength: Present
Sex: Male
Emaps: EMAPS:1915528
Pattern: Not Specified
Stage: TS28
Assay Id: MGI:3585812
Age: postnatal adult
Image: Adult
Specimen Label: Adult
Detected: true
Specimen Num: 9
GXD Expression    
Probe: MGI:3584591
Assay Type: RNA in situ
Annotation Date: 2005-08-30
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1778728
Pattern: Not Specified
Stage: TS28
Assay Id: MGI:3585812
Age: postnatal day 6
Specimen Label: CNS
Detected: true
Specimen Num: 10
GXD Expression    
Probe: MGI:3584591
Assay Type: RNA in situ
Annotation Date: 2005-08-30
Strength: Present
Sex: Not Specified
Emaps: EMAPS:3284528
Pattern: Not Specified
Stage: TS28
Assay Id: MGI:3585812
Age: postnatal day 6
Specimen Label: CNS
Detected: true
Specimen Num: 10
GXD Expression  
Probe: MGI:3584591
Assay Type: RNA in situ
Annotation Date: 2005-08-30
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1603924
Pattern: Not Specified
Stage: TS24
Assay Id: MGI:3585812
Age: embryonic day 16.0
Note: Expression was widespread.
Specimen Label: Embryo
Detected: true
Specimen Num: 11
GXD Expression
Probe: MGI:3584591
Assay Type: RNA in situ
Annotation Date: 2005-08-30
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1915726
Pattern: Not Specified
Stage: TS26
Assay Id: MGI:3585812
Age: embryonic day 18.0
Image: E18
Note: Expression was detected in the outer neuroblastic layer.
Specimen Label: E18
Detected: true
Specimen Num: 4
GXD Expression
Probe: MGI:3584591
Assay Type: RNA in situ
Annotation Date: 2005-08-30
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1915727
Pattern: Not Specified
Stage: TS27
Assay Id: MGI:3585812
Age: postnatal day 0-1
Image: P0/1
Note: Expression was detected in the outer neuroblastic layer.
Specimen Label: P0/1
Detected: true
Specimen Num: 5
GXD Expression
Probe: MGI:3584591
Assay Type: RNA in situ
Annotation Date: 2005-08-30
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1915727
Pattern: Not Specified
Stage: TS27
Assay Id: MGI:3585812
Age: postnatal day 2-3
Image: P2/3
Note: Expression was detected in the outer neuroblastic layer.
Specimen Label: P2/3
Detected: true
Specimen Num: 6
GXD Expression    
Probe: MGI:3584591
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:3585812
Age: postnatal day 6-7
Specimen Label: P6/7
Detected: true
Specimen Num: 7
GXD Expression  
Probe: MGI:3584591
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:3585812
Age: postnatal day 8-10
Note: Expression was detected in the inner segment.
Specimen Label: P8/10
Detected: true
Specimen Num: 8
GXD Expression
Probe: MGI:3584591
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:3585812
Age: postnatal adult
Image: Adult
Note: Expression was detected in the inner segment.
Specimen Label: Adult
Detected: true
Specimen Num: 9
GXD Expression  
Probe: MGI:3584591
Assay Type: RNA in situ
Annotation Date: 2005-08-30
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1859224
Pattern: Regionally restricted
Stage: TS24
Assay Id: MGI:3585812
Age: embryonic day 16.0
Note: Expression was detected in the inner neuroblastic layer.
Specimen Label: E16
Detected: true
Specimen Num: 3
GXD Expression  
Probe: MGI:3584591
Assay Type: RNA in situ
Annotation Date: 2005-08-30
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1717120
Pattern: Regionally restricted
Stage: TS20
Assay Id: MGI:3585812
Age: embryonic day 12.0
Note: Expression was detected in the inner neuroblastic layer.
Specimen Label: E12
Detected: true
Specimen Num: 1
GXD Expression  
Probe: MGI:3584591
Assay Type: RNA in situ
Annotation Date: 2005-08-30
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1717122
Pattern: Regionally restricted
Stage: TS22
Assay Id: MGI:3585812
Age: embryonic day 14.0
Note: Expression was detected in the inner neuroblastic layer and in a subset of cells in the outer neuroblastic layer. The expression level was higher in the inner neuroblastic layer.
Specimen Label: E14
Detected: true
Specimen Num: 2
Publication
First Author: Szodorai A
Year: 2009
Journal: J Neurosci
Title: APP anterograde transport requires Rab3A GTPase activity for assembly of the transport vesicle.
Volume: 29
Issue: 46
Pages: 14534-44
Publication
First Author: Rocha-Sanchez SM
Year: 2011
Journal: J Neurosci
Title: Mature mice lacking Rbl2/p130 gene have supernumerary inner ear hair cells and supporting cells.
Volume: 31
Issue: 24
Pages: 8883-93
Publication
First Author: Figueiredo AC
Year: 2008
Journal: J Biol Chem
Title: Rab3GEP is the non-redundant guanine nucleotide exchange factor for Rab27a in melanocytes.
Volume: 283
Issue: 34
Pages: 23209-16
Publication
First Author: Sdek P
Year: 2011
Journal: J Cell Biol
Title: Rb and p130 control cell cycle gene silencing to maintain the postmitotic phenotype in cardiac myocytes.
Volume: 194
Issue: 3
Pages: 407-23
Publication
First Author: Sakane A
Year: 2006
Journal: Proc Natl Acad Sci U S A
Title: Rab3 GTPase-activating protein regulates synaptic transmission and plasticity through the inactivation of Rab3.
Volume: 103
Issue: 26
Pages: 10029-34
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: Vaillend C
Year: 2008
Journal: Behav Brain Res
Title: Genes, plasticity and mental retardation.
Volume: 192
Issue: 1
Pages: 88-105
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: The Jackson Laboratory
Year: 2012
Journal: MGI Direct Data Submission
Title: Alleles produced for the KOMP project by The Jackson Laboratory
Publication        
First Author: Mouse Genome Informatics Scientific Curators
Year: 2016
Title: Automatic assignment of GO terms using logical inference, based on on inter-ontology links
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: Mouse Genome Informatics Scientific Curators
Year: 2010
Title: Rat to Mouse ISO GO annotation transfer
Publication        
First Author: Mouse Genome Informatics Scientific Curators
Year: 2003
Title: MGI Sequence Curation Reference
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: 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: 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: 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: 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: 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 Gene 1.0 ST Array Platform
Publication
First Author: Youssef G
Year: 2013
Journal: Dev Biol
Title: Rab3Gap1 mediates exocytosis of Claudin-1 and tight junction formation during epidermal barrier acquisition.
Volume: 380
Issue: 2
Pages: 274-85
DO Term
Protein
Organism: Mus musculus/domesticus
Length: 1366  
Fragment?: false
Protein
Organism: Mus musculus/domesticus
Length: 1387  
Fragment?: false
Protein
Organism: Mus musculus/domesticus
Length: 1367  
Fragment?: false
Protein Domain
Type: Domain
Description: This entry represents a conserved domain found in the Rab3 GTPase-activating protein catalytic subunit (Rab3GAP1).Small G proteins of the Rab family are regulators of intracellular vesicle traffic. Their rate of GTP hydrolysis is enhanced by specific GTPase-activating proteins (GAPs) that switch G proteins to their inactive form []. Rab3GAP1 (catalytic subunit) has been shown to form a heterodimeric complex with Rab3GAP2 (the regulatory subunit), and this complex acts as a guanosine nucleotide exchange factor for Rab3 subfamily (RAB3A, RAB3B, RAB3C and RAB3D). Rab3GAP complex may participate in neurodevelopmental processes such as proliferation, migration and differentiation before synapse formation, and non-synaptic vesicular release of neurotransmitters [, ]. It also activates Rab18 and promotes autolysosome maturation through the Vps34 Complex I [].Mutations in the Rab3GAP1/2 gene cause Warburg micro syndrome (WMS), a hereditary autosomal neuromuscular disorder [].
Protein Domain
Type: Family
Description: This family represents the regulatory subunit of the Rab3GAP complex, also known as Rab3GAP2. Small G proteins of the Rab family are regulators of intracellular vesicle traffic. Their rate of GTP hydrolysis is enhanced by specific GTPase-activating proteins (GAPs) that switch G proteins to their inactive form []. Rab3GAP1 (catalytic subunit) has been shown to form a heterodimeric complex with Rab3GAP2 (the regulatory subunit), and this complex acts as a guanosine nucleotide exchange factor for Rab3 subfamily (RAB3A, RAB3B, RAB3C and RAB3D). Rab3GAP complex may participate in neurodevelopmental processes such as proliferation, migration and differentiation before synapse formation, and non-synaptic vesicular release of neurotransmitters [, ]. It also activates Rab18 and promotes autolysosome maturation through the Vps34 Complex I [].Mutations in the Rab3GAP1/2 gene cause Warburg micro syndrome (WMS), a hereditary autosomal neuromuscular disorder [].
Protein Domain
Type: Domain
Description: This family includes the N terminus of the Rab3 GTPase-activating protein (GAP) non-catalytic subunit.Small G proteins of the Rab family are regulators of intracellular vesicle traffic. Their rate of GTP hydrolysis is enhanced by specific GTPase-activating proteins (GAPs) that switch G proteins to their inactive form []. Rab3GAP1 (catalytic subunit) has been shown to form a heterodimeric complex with Rab3GAP2 (the regulatory subunit), and this complex acts as a guanosine nucleotide exchange factor for Rab3 subfamily (RAB3A, RAB3B, RAB3C and RAB3D). Rab3GAP complex may participate in neurodevelopmental processes such as proliferation, migration and differentiation before synapse formation, and non-synaptic vesicular release of neurotransmitters [, ]. It also activates Rab18 and promotes autolysosome maturation through the Vps34 Complex I [].Mutations in the Rab3GAP1/2 gene cause Warburg micro syndrome (WMS), a hereditary autosomal neuromuscular disorder [].
Protein Domain
Type: Domain
Description: This entry represents the C terminus of the Rab3 GTPase-activating protein non-catalytic subunit.Small G proteins of the Rab family are regulators of intracellular vesicle traffic. Their rate of GTP hydrolysis is enhanced by specific GTPase-activating proteins (GAPs) that switch G proteins to their inactive form []. Rab3GAP1 (catalytic subunit) has been shown to form a heterodimeric complex with Rab3GAP2 (the regulatory subunit), and this complex acts as a guanosine nucleotide exchange factor for Rab3 subfamily (RAB3A, RAB3B, RAB3C and RAB3D). Rab3GAP complex may participate in neurodevelopmental processes such as proliferation, migration and differentiation before synapse formation, and non-synaptic vesicular release of neurotransmitters [, ]. It also activates Rab18 and promotes autolysosome maturation through the Vps34 Complex I [].Mutations in the Rab3GAP1/2 gene cause Warburg micro syndrome (WMS), a hereditary autosomal neuromuscular disorder [].