| 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 |
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Mouse Genome Informatics Scientific Curators |
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2003 |
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MGI Sequence Curation Reference |
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Carninci P |
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The transcriptional landscape of the mammalian genome. |
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Nature |
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Genetic determinants of micronucleus formation in vivo. |
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MGD Nomenclature Committee |
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Zambrowicz BP |
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2003 |
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Proc Natl Acad Sci U S A |
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Wnk1 kinase deficiency lowers blood pressure in mice: a gene-trap screen to identify potential targets for therapeutic intervention. |
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Mouse Genome Informatics (MGI) and National Center for Biotechnology Information (NCBI) |
| Year: |
2008 |
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Database Download |
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Mouse Gene Trap Data Load from dbGSS |
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Manual transfer of experimentally-verified manual GO annotation data to orthologs by curator judgment of sequence similarity |
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Automated transfer of experimentally-verified manual GO annotation data to mouse-human orthologs |
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Mouse Genome Informatics Computational Sequence to Gene Associations |
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Mouse Genome Informatics Scientific Curators |
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Obtaining and Loading Genome Assembly Coordinates from Ensembl Annotations |
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Dev Biol |
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Rab3Gap1 mediates exocytosis of Claudin-1 and tight junction formation during epidermal barrier acquisition. |
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Open Biol |
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Warburg Micro syndrome is caused by RAB18 deficiency or dysregulation. |
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150047 |
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| Protein |
| Organism: |
Mus musculus/domesticus |
| Length: |
1366
 |
| Fragment?: |
false |
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•
•
•
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| Protein |
| Organism: |
Mus musculus/domesticus |
| Length: |
1387
 |
| Fragment?: |
false |
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•
•
•
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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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