Type |
Details |
Score |
GXD Expression |
Probe: |
MGI:4886071 |
Assay Type: |
RNA in situ |
Annotation Date: |
2011-04-11 |
Strength: |
Strong |
Sex: |
Not Specified |
Emaps: |
EMAPS:3267328 |
Pattern: |
Regionally restricted |
Stage: |
TS28 |
Assay Id: |
MGI:4945210 |
Age: |
postnatal day 7 |
Image: |
g00679 P7 |
Note: |
Expression was region specific and scattered. |
Specimen Label: |
g00679 P7 |
Detected: |
true |
Specimen Num: |
3 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:4886071 |
Assay Type: |
RNA in situ |
Annotation Date: |
2011-04-11 |
Strength: |
Present |
Sex: |
Not Specified |
Emaps: |
EMAPS:3267328 |
Pattern: |
Widespread |
Stage: |
TS28 |
Assay Id: |
MGI:4945210 |
Age: |
postnatal day 42 |
Image: |
g00679 Adult |
|
Specimen Label: |
g00679 Adult |
Detected: |
true |
Specimen Num: |
4 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:4844340 |
Assay Type: |
RNA in situ |
Annotation Date: |
2010-12-22 |
Strength: |
Moderate |
Sex: |
Not Specified |
Emaps: |
EMAPS:1636715 |
Pattern: |
Regionally restricted |
Stage: |
TS15 |
Assay Id: |
MGI:4848327 |
Age: |
embryonic day 9.5 |
|
Note: |
Staining is present in the external genitalia. |
Specimen Label: |
Table S4 - E9.5 |
Detected: |
true |
Specimen Num: |
1 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:4844340 |
Assay Type: |
RNA in situ |
Annotation Date: |
2010-12-22 |
Strength: |
Moderate |
Sex: |
Not Specified |
Emaps: |
EMAPS:1636717 |
Pattern: |
Regionally restricted |
Stage: |
TS17 |
Assay Id: |
MGI:4848327 |
Age: |
embryonic day 10.5 |
|
Note: |
Staining is present in the external genitalia. |
Specimen Label: |
Table S4 - E10.5 |
Detected: |
true |
Specimen Num: |
2 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:4886071 |
Assay Type: |
RNA in situ |
Annotation Date: |
2011-04-11 |
Strength: |
Present |
Sex: |
Not Specified |
Emaps: |
EMAPS:3274128 |
Pattern: |
Regionally restricted |
Stage: |
TS28 |
Assay Id: |
MGI:4945210 |
Age: |
postnatal day 7 |
Image: |
g00679 P7 |
|
Specimen Label: |
g00679 P7 |
Detected: |
true |
Specimen Num: |
3 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:4886071 |
Assay Type: |
RNA in situ |
Annotation Date: |
2011-04-11 |
Strength: |
Present |
Sex: |
Not Specified |
Emaps: |
EMAPS:3274128 |
Pattern: |
Regionally restricted |
Stage: |
TS28 |
Assay Id: |
MGI:4945210 |
Age: |
postnatal day 42 |
Image: |
g00679 Adult |
|
Specimen Label: |
g00679 Adult |
Detected: |
true |
Specimen Num: |
4 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:4886071 |
Assay Type: |
RNA in situ |
Annotation Date: |
2011-04-11 |
Strength: |
Present |
Sex: |
Not Specified |
Emaps: |
EMAPS:1609219 |
Pattern: |
Widespread |
Stage: |
TS19 |
Assay Id: |
MGI:4945210 |
Age: |
embryonic day 11.5 |
Image: |
g00679 E11.5 |
|
Specimen Label: |
g00679 E11.5 |
Detected: |
true |
Specimen Num: |
1 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:4886071 |
Assay Type: |
RNA in situ |
Annotation Date: |
2011-04-11 |
Strength: |
Present |
Sex: |
Not Specified |
Emaps: |
EMAPS:3266028 |
Pattern: |
Regionally restricted |
Stage: |
TS28 |
Assay Id: |
MGI:4945210 |
Age: |
postnatal day 7 |
Image: |
g00679 P7 |
|
Specimen Label: |
g00679 P7 |
Detected: |
true |
Specimen Num: |
3 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:4886071 |
Assay Type: |
RNA in situ |
Annotation Date: |
2011-04-11 |
Strength: |
Present |
Sex: |
Not Specified |
Emaps: |
EMAPS:3266028 |
Pattern: |
Regionally restricted |
Stage: |
TS28 |
Assay Id: |
MGI:4945210 |
Age: |
postnatal day 42 |
Image: |
g00679 Adult |
|
Specimen Label: |
g00679 Adult |
Detected: |
true |
Specimen Num: |
4 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:4844340 |
Assay Type: |
RNA in situ |
Annotation Date: |
2010-12-22 |
Strength: |
Moderate |
Sex: |
Not Specified |
Emaps: |
EMAPS:1666917 |
Pattern: |
Not Specified |
Stage: |
TS17 |
Assay Id: |
MGI:4848327 |
Age: |
embryonic day 10.5 |
|
Note: |
Staining is present in the otic pit. |
Specimen Label: |
Table S4 - E10.5 |
Detected: |
true |
Specimen Num: |
2 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:1002760 |
Assay Type: |
RNA in situ |
Annotation Date: |
2024-04-24 |
Strength: |
Present |
Sex: |
Not Specified |
Emaps: |
EMAPS:1754722 |
Pattern: |
Not Specified |
Stage: |
TS22 |
Assay Id: |
MGI:7623583 |
Age: |
embryonic day 14.5 |
|
|
Specimen Label: |
Supplementary table 2 |
Detected: |
true |
Specimen Num: |
1 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:7778403 |
Assay Type: |
Immunohistochemistry |
Annotation Date: |
2024-11-12 |
Strength: |
Present |
Sex: |
Not Specified |
Emaps: |
EMAPS:1754722 |
Pattern: |
Not Specified |
Stage: |
TS22 |
Assay Id: |
MGI:7779628 |
Age: |
embryonic day 14.5 |
Image: |
1E E14.5 |
|
Specimen Label: |
1E E14.5 |
Detected: |
true |
Specimen Num: |
1 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:4886071 |
Assay Type: |
RNA in situ |
Annotation Date: |
2011-04-11 |
Strength: |
Strong |
Sex: |
Not Specified |
Emaps: |
EMAPS:1754028 |
Pattern: |
Regionally restricted |
Stage: |
TS28 |
Assay Id: |
MGI:4945210 |
Age: |
postnatal day 7 |
Image: |
g00679 P7 |
Note: |
Expression was region specific and scattered. |
Specimen Label: |
g00679 P7 |
Detected: |
true |
Specimen Num: |
3 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:4886071 |
Assay Type: |
RNA in situ |
Annotation Date: |
2011-04-11 |
Strength: |
Present |
Sex: |
Not Specified |
Emaps: |
EMAPS:1754028 |
Pattern: |
Widespread |
Stage: |
TS28 |
Assay Id: |
MGI:4945210 |
Age: |
postnatal day 42 |
Image: |
g00679 Adult |
|
Specimen Label: |
g00679 Adult |
Detected: |
true |
Specimen Num: |
4 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:4886071 |
Assay Type: |
RNA in situ |
Annotation Date: |
2011-04-11 |
Strength: |
Strong |
Sex: |
Not Specified |
Emaps: |
EMAPS:3280923 |
Pattern: |
Regionally restricted |
Stage: |
TS23 |
Assay Id: |
MGI:4945210 |
Age: |
embryonic day 15.5 |
Image: |
g00679 E15.5 |
Note: |
Expression was region specific and scattered. |
Specimen Label: |
g00679 E15.5 |
Detected: |
true |
Specimen Num: |
2 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:4886071 |
Assay Type: |
RNA in situ |
Annotation Date: |
2011-04-11 |
Strength: |
Strong |
Sex: |
Not Specified |
Emaps: |
EMAPS:3280928 |
Pattern: |
Widespread |
Stage: |
TS28 |
Assay Id: |
MGI:4945210 |
Age: |
postnatal day 7 |
Image: |
g00679 P7 |
|
Specimen Label: |
g00679 P7 |
Detected: |
true |
Specimen Num: |
3 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:4886071 |
Assay Type: |
RNA in situ |
Annotation Date: |
2011-04-11 |
Strength: |
Strong |
Sex: |
Not Specified |
Emaps: |
EMAPS:3280928 |
Pattern: |
Regionally restricted |
Stage: |
TS28 |
Assay Id: |
MGI:4945210 |
Age: |
postnatal day 42 |
Image: |
g00679 Adult |
Note: |
Expression was region specific and scattered. |
Specimen Label: |
g00679 Adult |
Detected: |
true |
Specimen Num: |
4 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:4886071 |
Assay Type: |
RNA in situ |
Annotation Date: |
2011-04-11 |
Strength: |
Strong |
Sex: |
Not Specified |
Emaps: |
EMAPS:3266523 |
Pattern: |
Regionally restricted |
Stage: |
TS23 |
Assay Id: |
MGI:4945210 |
Age: |
embryonic day 15.5 |
Image: |
g00679 E15.5 |
Note: |
Expression was region specific and scattered. |
Specimen Label: |
g00679 E15.5 |
Detected: |
true |
Specimen Num: |
2 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:7778403 |
Assay Type: |
Immunohistochemistry |
Annotation Date: |
2024-11-12 |
Strength: |
Strong |
Sex: |
Not Specified |
Emaps: |
EMAPS:3270725 |
Pattern: |
Not Specified |
Stage: |
TS25 |
Assay Id: |
MGI:7779628 |
Age: |
embryonic day 17.5 |
Image: |
1E E17.5 |
|
Specimen Label: |
1E E17.5 |
Detected: |
true |
Specimen Num: |
2 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:7778403 |
Assay Type: |
Immunohistochemistry |
Annotation Date: |
2024-11-12 |
Strength: |
Strong |
Sex: |
Not Specified |
Emaps: |
EMAPS:3270727 |
Pattern: |
Not Specified |
Stage: |
TS27 |
Assay Id: |
MGI:7779628 |
Age: |
postnatal day 0 |
Image: |
1E P0 |
|
Specimen Label: |
1E P0 |
Detected: |
true |
Specimen Num: |
3 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:4886071 |
Assay Type: |
RNA in situ |
Annotation Date: |
2011-04-11 |
Strength: |
Strong |
Sex: |
Not Specified |
Emaps: |
EMAPS:1757723 |
Pattern: |
Regionally restricted |
Stage: |
TS23 |
Assay Id: |
MGI:4945210 |
Age: |
embryonic day 15.5 |
Image: |
g00679 E15.5 |
Note: |
Expression was region specific and scattered. |
Specimen Label: |
g00679 E15.5 |
Detected: |
true |
Specimen Num: |
2 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:4886071 |
Assay Type: |
RNA in situ |
Annotation Date: |
2011-04-11 |
Strength: |
Strong |
Sex: |
Not Specified |
Emaps: |
EMAPS:1757728 |
Pattern: |
Regionally restricted |
Stage: |
TS28 |
Assay Id: |
MGI:4945210 |
Age: |
postnatal day 7 |
Image: |
g00679 P7 |
Note: |
Expression was region specific and scattered. |
Specimen Label: |
g00679 P7 |
Detected: |
true |
Specimen Num: |
3 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:4886071 |
Assay Type: |
RNA in situ |
Annotation Date: |
2011-04-11 |
Strength: |
Strong |
Sex: |
Not Specified |
Emaps: |
EMAPS:1757728 |
Pattern: |
Regionally restricted |
Stage: |
TS28 |
Assay Id: |
MGI:4945210 |
Age: |
postnatal day 42 |
Image: |
g00679 Adult |
Note: |
Expression was region specific and scattered. |
Specimen Label: |
g00679 Adult |
Detected: |
true |
Specimen Num: |
4 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:7778406 |
Assay Type: |
RNA in situ |
Annotation Date: |
2024-11-12 |
Strength: |
Strong |
Sex: |
Not Specified |
Emaps: |
EMAPS:3671622 |
Pattern: |
Not Specified |
Stage: |
TS22 |
Assay Id: |
MGI:7779625 |
Age: |
embryonic day 14.5 |
Image: |
1C E14.5 |
|
Specimen Label: |
1C E14.5 |
Detected: |
true |
Specimen Num: |
1 |
|
•
•
•
•
•
|
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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: |
MGI Genome Annotation Group and UniGene Staff |
Year: |
2015 |
Journal: |
Database Download |
Title: |
MGI-UniGene Interconnection Effort |
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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: |
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 |
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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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Allele |
Name: |
RAB18, member RAS oncogene family; mutation 1, Chen-Jee Hong |
Allele Type: |
Chemically induced (ENU) |
Attribute String: |
Null/knockout |
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Genotype |
Symbol: |
Rab18/Rab18 |
Background: |
C57BL/6J-Rab18 |
Zygosity: |
hm |
Has Mutant Allele: |
true |
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Interaction Experiment |
Description: |
Comparative proximity biotinylation implicates the small GTPase RAB18 in sterol mobilization and biosynthesis. |
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Allele |
Name: |
RAB18, member RAS oncogene family; gene trap EUCE0233a03, Helmholtz Zentrum Muenchen GmbH |
Allele Type: |
Gene trapped |
Attribute String: |
Null/knockout |
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Publication |
First Author: |
Kiss RS |
Year: |
2023 |
Journal: |
J Biol Chem |
Title: |
Comparative proximity biotinylation implicates the small GTPase RAB18 in sterol mobilization and biosynthesis. |
Volume: |
299 |
Issue: |
11 |
Pages: |
105295 |
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Genotype |
Symbol: |
Rab18/Rab18 |
Background: |
involves: 129P2/OlaHsd * C57BL/6J |
Zygosity: |
hm |
Has Mutant Allele: |
true |
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DO Term |
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Strain |
Attribute String: |
mutant strain, chemically induced mutation, coisogenic |
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Protein |
Organism: |
Mus musculus/domesticus |
Length: |
981
 |
Fragment?: |
false |
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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: |
988
 |
Fragment?: |
false |
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•
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Protein |
Organism: |
Mus musculus/domesticus |
Length: |
1367
 |
Fragment?: |
false |
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•
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Protein |
Organism: |
Mus musculus/domesticus |
Length: |
982
 |
Fragment?: |
false |
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Publication |
First Author: |
Li D |
Year: |
2019 |
Journal: |
Cell Rep |
Title: |
The ER-Localized Protein DFCP1 Modulates ER-Lipid Droplet Contact Formation. |
Volume: |
27 |
Issue: |
2 |
Pages: |
343-358.e5 |
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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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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 []. |
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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 []. |
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Protein Domain |
Type: |
Domain |
Description: |
This entry represents the C-terminal domain found in the Rab3 GTPase-activating protein catalytic subunit (Rab3GAP1) predominantly in animals.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: |
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 |
Organism: |
Mus musculus/domesticus |
Length: |
183
 |
Fragment?: |
true |
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Protein |
Organism: |
Mus musculus/domesticus |
Length: |
468
 |
Fragment?: |
true |
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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 |
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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 |
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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 |
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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 |
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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 |
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Publication |
First Author: |
Park AK |
Year: |
2014 |
Journal: |
BMC Genet |
Title: |
Targeted disruption of Tbc1d20 with zinc-finger nucleases causes cataracts and testicular abnormalities in mice. |
Volume: |
15 |
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Pages: |
135 |
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