Type |
Details |
Score |
Gene |
Type: |
gene |
Organism: |
human |
|
•
•
•
•
•
|
Gene |
Type: |
gene |
Organism: |
frog, western clawed |
|
•
•
•
•
•
|
Gene |
Type: |
gene |
Organism: |
dog, domestic |
|
•
•
•
•
•
|
Gene |
|
•
•
•
•
•
|
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 |
|
•
•
•
•
•
|
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: |
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: |
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: |
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: |
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: |
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: |
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: |
The Gene Ontology Consortium |
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: |
The Gene Ontology Consortium |
Year: |
2014 |
|
Title: |
Automated transfer of experimentally-verified manual GO annotation data to mouse-rat orthologs |
|
|
|
|
•
•
•
•
•
|
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: |
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 |
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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 |
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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 |
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Publication |
First Author: |
AgBase, BHF-UCL, Parkinson's UK-UCL, dictyBase, HGNC, Roslin Institute, FlyBase and UniProtKB curators |
Year: |
2011 |
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Title: |
Manual transfer of experimentally-verified manual GO annotation data to orthologs by curator judgment of sequence similarity |
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Publication |
First Author: |
The Jackson Laboratory Mouse Radiation Hybrid Database |
Year: |
2004 |
Journal: |
Database Release |
Title: |
Mouse T31 Radiation Hybrid Data Load |
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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 |
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Publication |
First Author: |
The Gene Ontology Consortium |
Year: |
2010 |
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Title: |
Automated transfer of experimentally-verified manual GO annotation data to mouse-human orthologs |
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Publication |
First Author: |
Mouse Genome Informatics Scientific Curators |
Year: |
2002 |
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Title: |
Mouse Genome Informatics Computational Sequence to Gene Associations |
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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). |
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Publication |
First Author: |
Marc Feuermann, Huaiyu Mi, Pascale Gaudet, Dustin Ebert, Anushya Muruganujan, Paul Thomas |
Year: |
2010 |
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Title: |
Annotation inferences using phylogenetic trees |
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Publication |
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 |
First Author: |
Allen Institute for Brain Science |
Year: |
2004 |
Journal: |
Allen Institute |
Title: |
Allen Brain Atlas: mouse riboprobes |
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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 |
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Publication |
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 |
First Author: |
Mouse Genome Informatics Group |
Year: |
2003 |
Journal: |
Database Procedure |
Title: |
Automatic Encodes (AutoE) Reference |
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Publication |
First Author: |
Bairoch A |
Year: |
1999 |
Journal: |
Database Release |
Title: |
SWISS-PROT Annotated protein sequence database |
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Publication |
First Author: |
Mouse Genome Informatics Scientific Curators |
Year: |
2005 |
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Title: |
Obtaining and Loading Genome Assembly Coordinates from Ensembl Annotations |
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Publication |
First Author: |
Mouse Genome Informatics |
Year: |
2010 |
Journal: |
Database Release |
Title: |
Protein Ontology Association Load. |
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Publication |
First Author: |
Mouse Genome Informatics Scientific Curators |
Year: |
2005 |
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Title: |
Obtaining and loading genome assembly coordinates from NCBI annotations |
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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 |
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DO Term |
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Publication |
First Author: |
Handley MT |
Year: |
2015 |
Journal: |
Open Biol |
Title: |
Warburg Micro syndrome is caused by RAB18 deficiency or dysregulation. |
Volume: |
5 |
Issue: |
6 |
Pages: |
150047 |
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Protein |
Organism: |
Mus musculus/domesticus |
Length: |
1366
 |
Fragment?: |
false |
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Protein |
Organism: |
Mus musculus/domesticus |
Length: |
1387
 |
Fragment?: |
false |
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Protein |
Organism: |
Mus musculus/domesticus |
Length: |
1367
 |
Fragment?: |
false |
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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 []. |
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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 []. |
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