| Type |
Details |
Score |
| Gene |
| Type: |
gene |
| Organism: |
human |
|
•
•
•
•
•
|
| Gene |
| Type: |
gene |
| Organism: |
frog, western clawed |
|
•
•
•
•
•
|
| Gene |
|
•
•
•
•
•
|
| Gene |
| Type: |
gene |
| Organism: |
chimpanzee |
|
•
•
•
•
•
|
| Gene |
| Type: |
gene |
| Organism: |
dog, domestic |
|
•
•
•
•
•
|
| 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: |
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 Coding Gene |
| Type: |
protein_coding_gene |
| Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
| 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 |
| Organism: |
Mus musculus/domesticus |
| Length: |
183
 |
| Fragment?: |
true |
|
•
•
•
•
•
|
| Protein |
| Organism: |
Mus musculus/domesticus |
| Length: |
468
 |
| Fragment?: |
true |
|
•
•
•
•
•
|
| 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 |
|
•
•
•
•
•
|
| 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 |
|
| Assay Type: |
In situ reporter (knock in) |
| Annotation Date: |
2021-04-16 |
| Strength: |
Present |
| Sex: |
Male |
| Emaps: |
EMAPS:1737328 |
| Pattern: |
Not Specified |
| Stage: |
TS28 |
| Assay Id: |
MGI:6691838 |
| Age: |
postnatal adult |
| Image: |
JAX_1294931 |
| Note: |
kidney |
| Specimen Label: |
JAX_1294931 |
| Detected: |
true |
| Specimen Num: |
13 |
|
•
•
•
•
•
|
| GXD Expression |
|
| Assay Type: |
In situ reporter (knock in) |
| Annotation Date: |
2021-04-16 |
| Strength: |
Present |
| Sex: |
Male |
| Emaps: |
EMAPS:1706828 |
| Pattern: |
Not Specified |
| Stage: |
TS28 |
| Assay Id: |
MGI:6691838 |
| Age: |
postnatal adult |
| Image: |
JAX_1294923 |
|
| Specimen Label: |
JAX_1294923 |
| Detected: |
true |
| Specimen Num: |
9 |
|
•
•
•
•
•
|
| GXD Expression |
|
| Assay Type: |
In situ reporter (knock in) |
| Annotation Date: |
2021-04-16 |
| Strength: |
Present |
| Sex: |
Female |
| Emaps: |
EMAPS:1925228 |
| Pattern: |
Not Specified |
| Stage: |
TS28 |
| Assay Id: |
MGI:6691838 |
| Age: |
postnatal adult |
| Image: |
JAX_1294911 |
|
| Specimen Label: |
JAX_1294911 |
| Detected: |
true |
| Specimen Num: |
5 |
|
•
•
•
•
•
|
| GXD Expression |
|
| Assay Type: |
In situ reporter (knock in) |
| Annotation Date: |
2021-04-16 |
| Strength: |
Present |
| Sex: |
Female |
| Emaps: |
EMAPS:1860128 |
| Pattern: |
Not Specified |
| Stage: |
TS28 |
| Assay Id: |
MGI:6691838 |
| Age: |
postnatal adult |
| Image: |
JAX_1294905 |
|
| Specimen Label: |
JAX_1294905 |
| Detected: |
true |
| Specimen Num: |
3 |
|
•
•
•
•
•
|
| GXD Expression |
|
| Assay Type: |
In situ reporter (knock in) |
| Annotation Date: |
2021-04-16 |
| Strength: |
Present |
| Sex: |
Male |
| Emaps: |
EMAPS:1750328 |
| Pattern: |
Not Specified |
| Stage: |
TS28 |
| Assay Id: |
MGI:6691838 |
| Age: |
postnatal adult |
| Image: |
JAX_1294921 |
|
| Specimen Label: |
JAX_1294921 |
| Detected: |
true |
| Specimen Num: |
8 |
|
•
•
•
•
•
|
| GXD Expression |
|
| Assay Type: |
In situ reporter (knock in) |
| Annotation Date: |
2021-04-16 |
| Strength: |
Present |
| Sex: |
Male |
| Emaps: |
EMAPS:1797228 |
| Pattern: |
Not Specified |
| Stage: |
TS28 |
| Assay Id: |
MGI:6691838 |
| Age: |
postnatal adult |
| Image: |
JAX_1294925 |
|
| Specimen Label: |
JAX_1294925 |
| Detected: |
true |
| Specimen Num: |
10 |
|
•
•
•
•
•
|
| GXD Expression |
|
| Assay Type: |
In situ reporter (knock in) |
| Annotation Date: |
2021-04-16 |
| Strength: |
Present |
| Sex: |
Female |
| Emaps: |
EMAPS:1683328 |
| Pattern: |
Not Specified |
| Stage: |
TS28 |
| Assay Id: |
MGI:6691838 |
| Age: |
postnatal adult |
| Image: |
JAX_1294909 |
|
| Specimen Label: |
JAX_1294909 |
| Detected: |
true |
| Specimen Num: |
4 |
|
•
•
•
•
•
|
| GXD Expression |
|
| Assay Type: |
In situ reporter (knock in) |
| Annotation Date: |
2021-04-16 |
| Strength: |
Present |
| Sex: |
Female |
| Emaps: |
EMAPS:3590528 |
| Pattern: |
Not Specified |
| Stage: |
TS28 |
| Assay Id: |
MGI:6691838 |
| Age: |
postnatal adult |
| Image: |
JAX_1294899 |
|
| Specimen Label: |
JAX_1294899 |
| Detected: |
true |
| Specimen Num: |
1 |
|
•
•
•
•
•
|
| GXD Expression |
|
| Assay Type: |
In situ reporter (knock in) |
| Annotation Date: |
2021-04-16 |
| Strength: |
Present |
| Sex: |
Male |
| Emaps: |
EMAPS:1752528 |
| Pattern: |
Not Specified |
| Stage: |
TS28 |
| Assay Id: |
MGI:6691838 |
| Age: |
postnatal adult |
| Image: |
JAX_1294929 |
|
| Specimen Label: |
JAX_1294929 |
| Detected: |
true |
| Specimen Num: |
12 |
|
•
•
•
•
•
|
| GXD Expression |
|
| Assay Type: |
In situ reporter (knock in) |
| Annotation Date: |
2021-04-16 |
| Strength: |
Present |
| Sex: |
Male |
| Emaps: |
EMAPS:1702128 |
| Pattern: |
Not Specified |
| Stage: |
TS28 |
| Assay Id: |
MGI:6691838 |
| Age: |
postnatal adult |
| Image: |
JAX_1294927 |
|
| Specimen Label: |
JAX_1294927 |
| Detected: |
true |
| Specimen Num: |
11 |
|
•
•
•
•
•
|
| GXD Expression |
|
| Assay Type: |
In situ reporter (knock in) |
| Annotation Date: |
2021-04-16 |
| Strength: |
Present |
| Sex: |
Male |
| Emaps: |
EMAPS:1929028 |
| Pattern: |
Not Specified |
| Stage: |
TS28 |
| Assay Id: |
MGI:6691838 |
| Age: |
postnatal adult |
| Image: |
JAX_1294919 |
|
| Specimen Label: |
JAX_1294919 |
| Detected: |
true |
| Specimen Num: |
7 |
|
•
•
•
•
•
|
| GXD Expression |
|
| Assay Type: |
In situ reporter (knock in) |
| Annotation Date: |
2021-04-16 |
| Strength: |
Present |
| Sex: |
Female |
| Emaps: |
EMAPS:1796228 |
| Pattern: |
Not Specified |
| Stage: |
TS28 |
| Assay Id: |
MGI:6691838 |
| Age: |
postnatal adult |
| Image: |
JAX_1294915 |
|
| Specimen Label: |
JAX_1294915 |
| Detected: |
true |
| Specimen Num: |
6 |
|
•
•
•
•
•
|
| GXD Expression |
|
| Assay Type: |
In situ reporter (knock in) |
| Annotation Date: |
2021-04-16 |
| Strength: |
Present |
| Sex: |
Female |
| Emaps: |
EMAPS:1881228 |
| Pattern: |
Not Specified |
| Stage: |
TS28 |
| Assay Id: |
MGI:6691838 |
| Age: |
postnatal adult |
| Image: |
JAX_1294901 |
|
| Specimen Label: |
JAX_1294901 |
| Detected: |
true |
| Specimen Num: |
2 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Okazaki N |
| Year: |
2003 |
| Journal: |
DNA Res |
| Title: |
Prediction of the coding sequences of mouse homologues of KIAA gene: II. The complete nucleotide sequences of 400 mouse KIAA-homologous cDNAs identified by screening of terminal sequences of cDNA clones randomly sampled from size-fractionated libraries. |
| Volume: |
10 |
| Issue: |
1 |
| Pages: |
35-48 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Hansen J |
| Year: |
2003 |
| Journal: |
Proc Natl Acad Sci U S A |
| Title: |
A large-scale, gene-driven mutagenesis approach for the functional analysis of the mouse genome. |
| Volume: |
100 |
| Issue: |
17 |
| Pages: |
9918-22 |
|
•
•
•
•
•
|
| 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: |
Friedel RH |
| Year: |
2007 |
| Journal: |
Brief Funct Genomic Proteomic |
| Title: |
EUCOMM--the European conditional mouse mutagenesis program. |
| Volume: |
6 |
| Issue: |
3 |
| Pages: |
180-5 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Koscielny G |
| Year: |
2014 |
| Journal: |
Nucleic Acids Res |
| Title: |
The International Mouse Phenotyping Consortium Web Portal, a unified point of access for knockout mice and related phenotyping data. |
| Volume: |
42 |
| Issue: |
Database issue |
| Pages: |
D802-9 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Stryke D |
| Year: |
2003 |
| Journal: |
Nucleic Acids Res |
| Title: |
BayGenomics: a resource of insertional mutations in mouse embryonic stem cells. |
| Volume: |
31 |
| Issue: |
1 |
| Pages: |
278-81 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
International Knockout Mouse Consortium |
| Year: |
2014 |
| Journal: |
Database Download |
| Title: |
MGI download of modified allele data from IKMC and creation of new knockout alleles |
|
|
|
|
•
•
•
•
•
|
| Publication |
| First Author: |
Wellcome Trust Sanger Institute |
| Year: |
2009 |
| Journal: |
MGI Direct Data Submission |
| Title: |
Alleles produced for the KOMP project by the Wellcome Trust Sanger Institute |
|
|
|
|
•
•
•
•
•
|
| 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: |
UniProt-GOA |
| Year: |
2012 |
|
| Title: |
Gene Ontology annotation based on UniProtKB/Swiss-Prot Subcellular Location vocabulary mapping, accompanied by conservative changes to GO terms applied by UniProt |
|
|
|
|
•
•
•
•
•
|
| Publication |
| First Author: |
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 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Skarnes WC |
| Year: |
2011 |
| Journal: |
Nature |
| Title: |
A conditional knockout resource for the genome-wide study of mouse gene function. |
| Volume: |
474 |
| Issue: |
7351 |
| Pages: |
337-42 |
|
•
•
•
•
•
|
| 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 |
|
|
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|
•
•
•
•
•
|
| Publication |
| First Author: |
UniProt-GOA |
| Year: |
2012 |
|
| Title: |
Gene Ontology annotation based on UniProtKB/Swiss-Prot keyword mapping |
|
|
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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 |
|
|
|
|
•
•
•
•
•
|
| Publication |
| First Author: |
Okazaki Y |
| Year: |
2002 |
| Journal: |
Nature |
| Title: |
Analysis of the mouse transcriptome based on functional annotation of 60,770 full-length cDNAs. |
| Volume: |
420 |
| Issue: |
6915 |
| Pages: |
563-73 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
The Gene Ontology Consortium |
| Year: |
2010 |
|
| Title: |
Automated transfer of experimentally-verified manual GO annotation data to mouse-human orthologs |
|
|
|
|
•
•
•
•
•
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| Publication |
| First Author: |
Diez-Roux G |
| Year: |
2011 |
| Journal: |
PLoS Biol |
| Title: |
A high-resolution anatomical atlas of the transcriptome in the mouse embryo. |
| Volume: |
9 |
| Issue: |
1 |
| Pages: |
e1000582 |
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| Publication |
| First Author: |
Mouse Genome Informatics Scientific Curators |
| Year: |
2002 |
|
| 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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•
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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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•
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•
•
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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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•
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•
•
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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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•
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•
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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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•
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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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•
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•
•
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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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•
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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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•
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| Publication |
| First Author: |
Mouse Genome Informatics |
| Year: |
2010 |
| Journal: |
Database Release |
| Title: |
Protein Ontology Association Load. |
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•
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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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•
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•
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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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| DO Term |
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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: |
981
 |
| Fragment?: |
false |
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•
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| Protein |
| Organism: |
Mus musculus/domesticus |
| Length: |
988
 |
| Fragment?: |
false |
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•
•
•
|
| Protein |
| Organism: |
Mus musculus/domesticus |
| Length: |
982
 |
| Fragment?: |
false |
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•
•
•
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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: |
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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•
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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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