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Aliases & Descriptions for RAB3GAP1
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc
, and/or 7Ensembl,
8miRBase) About This Section
|
| Aliases |
|---|
| DKFZp434A012 2 | | KIAA0066 1, 2, 3 | | P130 2, 5 | | RAB3GAP 1, 2, 3 | | RAB3GAP130 1, 2 | | Rab3-GAP 3 | | WARBM1 1, 2, 5 |
| | | Descriptions |
|---|
| RAB3 GTPase activating protein subunit 1 (catalytic) 2 | | RAB3 GTPase-activating protein 2 | | RAB3 GTPase-activating protein 130 kDa subunit 3 | | Rab3-GAP p130 3 |
|
| | Search outside databases for aliases for RAB3GAP1 genePrevious GC identifers: GC02P135645 GC02U900802 |
Summaries for RAB3GAP1(According to Entrez Gene,
Wikipedia's
Gene Wiki,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
| EntrezGene summary for RAB3GAP1: Members of the RAB3 protein family (see RAB3A; MIM 179490) are implicated in regulated exocytosis of neurotransmitters and hormones. RAB3GAP, which is involved in regulation of RAB3 activity, is a heterodimeric complex consisting a 130-kD catalytic subunit and a 150-kD noncatalytic subunit (MIM 609275). RAB3GAP specifically converts active RAB3-GTP to the inactive form RAB3-GDP (Aligianis et al., 2005 [PubMed 15696165]).[supplied by OMIM] UniProtKB/Swiss-Prot: RB3GP_HUMAN, Q15042Function: Probable catalytic subunit of a GTPase activating protein that has specificity for Rab3 subfamily (RAB3A, RAB3B, RAB3C and RAB3D). Rab3 proteins are involved in regulated exocytosis of neurotransmitters and hormones. Specifically converts active Rab3-GTP to the inactive form Rab3-GDP. Required for normal eye and brain development. May participate in neurodevelopmental processes such as proliferation, migration and differentiation before synapse formation, and non-synaptic vesicular release of neurotransmittersGene Wiki entry for RAB3GAP1 |
Genomic Location for RAB3GAP1
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to
UCSC and
Ensembl,
Transcription factor binding sites according to
SABiosciences) About This Section
| Genomic View: UCSC Golden Path with GeneCards custom track
Transcription factor binding sites upstream to the RAB3GAP1 gene 
Entrez Gene cytogenetic band: 2q21.3 Ensembl cytogenetic band: 2q21.3 HGNC cytogenetic band: 2q21.3RAB3GAP1 Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different)
 GeneLoc gene densities for chromosome 2 GeneLoc Exon Structure GeneLoc location for GC02P135526:
(about GC identifiers)
Start:
|
135,526,323 bp from pter |
End:
|
135,644,048 bp from pter |
Size:
|
117,726 bases |
Orientation:
|
plus strand |
RefSeq DNA sequence:- NC_000002.10 NT_022135.15
| Proteins for RAB3GAP1
(According to
1UniProtKB,
and/or Ensembl,
Phosphorylation sites according to 2Phosphosite,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from Invitrogen,
Millipore,
Sigma-Aldrich,
R&D Systems,
Enzo Life Sciences,
Abnova,
OriGene and/or,
Abcam,
Biochemical Assays by
Invitrogen,
Millipore,
R&D Systems,
Cell Signaling Technology, and/or
Enzo Life Sciences,
Ontologies according to Gene
Ontology Consortium 01 Apr 2009 and
Entrez Gene,
Antibodies by Invitrogen,
Millipore,
Sigma-Aldrich,
R&D Systems,
Cell Signaling Technology,
Abcam,
Abnova, and/or
Novus Biologicals)
About This Section
| UniProtKB/Swiss-Prot: RB3GP_HUMAN, Q15042 (See
protein sequence)Recommended Name: Rab3 GTPase-activating protein catalytic subunit Size: 981 amino acids; 110524 Da
Subunit: The Rab3 GTPase-activating complex is a heterodimer composed of RAB3GAP and RAB3-GAP150. The Rab3 GTPase-activating complex interacts with DMXL2 (By similarity)
Subcellular location: Cytoplasm. Note=In neurons, it is enriched in the synaptic soluble fraction
Secondary accessions: Q659F5 Q8TBB4Alternative splicing: 2 isoforms: Q15042-1 Q15042-2 Post-translational modifications:
View phosphorylation sites using PhosphoSite2
REFSEQ proteins: NP_036365.1
ENSEMBL proteins: ENSP00000264158 ENSP00000364996
Human Recombinant Proteins Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 
2 Gene Ontology (GO) cellular component terms (links to tree view): About this table
Antibodies for RAB3GAP1: Assays for RAB3GAP1: | Protein
Domains/ Families for RAB3GAP1(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
| ProtoNet protein and cluster: Q15042 UniProtKB/Swiss-Prot: RB3GP_HUMAN, Q15042Similarity: Belongs to the Rab3-GAP catalytic subunit family | Gene Function for RAB3GAP1
(According to MGI Jun 06 2009, UniProtKB,
IUBMB,and/or Genatlas,
shRNA from
OriGene,
Sigma-Aldrich, RNAi from
Sigma-Aldrich,
RNAi Products,
Clones, and
Q-PCR Products
from Invitrogen,
Millipore,
OriGene, and/or
Abnova,
siRNAs from
Applied Biosystems,
SYBR primers from OriGene,
Cell-based Assays from Millipore,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene.)
About This Section
|               OriGene 29mer shRNA kit in GFP-retroviral vector: NM_012233
Applied Biosystems Silencer® siRNAs for RAB3GAP1
Sigma-Aldrich siRNA for RAB3GAP1  Sigma-Aldrich shRNA for RAB3GAP1  Explore Sigma-Aldrich super-pooled esiRNAs 
              OriGene GFP tagged cDNA clone in CMV expression vector: NM_012233                                  Myc/DDK tagged cDNA clone in CMV expression vector: NM_012233                                  untagged cDNA clone in CMV expression vector: NM_012233 
Primers: Browse
Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers               OriGene genome-wide validated SYBR primer pairs: NM_012233
UniProtKB/Swiss-Prot: RB3GP_HUMAN, Q15042Function: Probable catalytic subunit of a GTPase activating protein that has specificity for Rab3 subfamily (RAB3A, RAB3B, RAB3C and RAB3D). Rab3 proteins are involved in regulated exocytosis of neurotransmitters and hormones. Specifically converts active Rab3-GTP to the inactive form Rab3-GDP. Required for normal eye and brain development. May participate in neurodevelopmental processes such as proliferation, migration and differentiation before synapse formation, and non-synaptic vesicular release of neurotransmittersBiophysicochemical properties: Kinetic parameters: KM=75 uM for GTP-loaded RAB3A;1 MGI mutant phenotype (inferred from 1 allele ) (MGI details for Rab3gap1):
3 Gene Ontology (GO) molecular function terms (links to tree view): About this table | Pathways & Interactions for RAB3GAP1
(Pathways according to Invitrogen
(maps by GeneGo),
Millipore,
Cell Signaling Technology,
Sigma-Aldrich,
KEGG
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Proteins Network according to
SABiosciences,
Interactions according to 1UniProtKB,
2MINT, and/or
3STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene.)
About This Section
|
Gene Network CentralTM Interacting Genes and Proteins Network for RAB3GAP1 
5/8 Interacting proteins for RAB3GAP1 (ENSP000002641583) via UniProtKB, MINT, and/or STRING (see all 8
)About this table
1 Gene Ontology (GO) biological process term (links to tree view): | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0043087 | regulation of GTPase activity |
IDA | 10859313 | About this table
|
Drugs & Compounds for RAB3GAP1(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
Sigma-Aldrich, Tocris Bioscience, and/or
Novoseek and Drugs according to
Enzo Life Sciences and/or
PharmGKB)
About This Section
|  |
Enzo Life Sciences drugs & compounds for RAB3GAP1 |
Browse Tocris compounds for RAB3GAP1 2 Novoseek chemical compound relationships for RAB3GAP1 gene
About this table
|
Transcripts for RAB3GAP1(GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 219 Homo sapiens; Jun 2 2009) or GenBank, RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
non coding RNAs according to
RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from Invitrogen,
Millipore, and/or
Abnova,
siRNAs from Applied Biosystems,
Sigma-Aldrich,
shRNA from
Sigma-Aldrich,
OriGene,
Tagged/untagged cDNA clones from
OriGene, Expression Assays from Applied Biosystems) About This Section
|               OriGene 29mer shRNA kit in GFP-retroviral vector: NM_012233
Sigma-Aldrich siRNA for RAB3GAP1  Sigma-Aldrich shRNA for RAB3GAP1  Explore Sigma-Aldrich super-pooled esiRNAs 
Applied Biosystems Silencer® siRNAs: NM_012233 REFSEQ mRNAs for RAB3GAP1 gene: NM_012233.1
Applied Biosystems TaqMan ® Gene Expression Assays: NM_012233               OriGene GFP tagged cDNA clone in CMV expression vector: NM_012233                                  Myc/DDK tagged cDNA clone in CMV expression vector: NM_012233                                  untagged cDNA clone in CMV expression vector: NM_012233  Additional cDNA sequence: AB449877.1 AK022494.1 AK056058.1 AK309118.1 AL096752.1 BC020303.1 BC022977.1 BC030992.2 BC036732.1 BC071602.1 BC146809.1 D31886.1 19 DOTS entries: DT.318550 DT.92042000 DT.100765793 DT.100692986 DT.120977449 DT.92432825 DT.318552 DT.92432826 DT.97826377 DT.91863266 DT.120977404 DT.120977412 DT.95276239 DT.120977398 DT.91690664 DT.95276242 DT.120977492 DT.91751690 DT.91986408
highest scoring ESTs for RAB3GAP1:AL096752 D31886 AA126453 AA135529 AA216018 AA363190 AA370959 AA385533 AA429718 AA442748 Unigene Cluster for RAB3GAP1: RAB3 GTPase activating protein subunit 1 (catalytic) Hs.306327 [show with all ESTs]Unigene Representative Sequence: BC071602
GeneLoc Exon Structure
5/8 Alternative Splicing Database (ASD) splice patterns (SP) for RAB3GAP1 (see all 8
)
| ExUns: | 1 | ^ | 2 | ^ | 3 | ^ | 4a | · | 4b | ^ | 5 | ^ | 6a | · | 6b | ^ | 7 | ^ | 8a | · | 8b | · | 8c | ^ | 9a | · | 9b | ^ | 10a | · | 10b | ^ | 11a | · | 11b | ^ | 12 | ^ | 13 | ^ | 14a | · | 14b | ^ | 15a | · | 15b | ^ | 16 | |
| SP1: | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |
| SP2: | |   | |   | |   | - |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |
| SP3: | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |
| SP4: | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |
| SP5: | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | - |   | |   | |   | |   | |   | |   | |   | |   |
About this scheme
ECgene alternative splicing isoforms for RAB3GAP1
2 Ensembl transcripts including schematic representations: ENST00000264158
ENST00000375836
|
Expression for RAB3GAP1
(Experimental results according to
1GeneNote
and GNF BioGPS,
probe sets-to-genes annotations according to
2GeneAnnot ,
3GeneTide ,
Sets of similar genes according to GeneDecks,
Electronic Northern calculations according to data from
UniGene (Build 219 Homo sapiens),
SAGE tags according to
CGAP,
plus additional links to
SOURCE, and/or
GNF
BioGPS, and/or
EXPOLDB, and/or
UniProtKB,
Expression Assays from
Applied Biosystems
)
About This Section
| RAB3GAP1 expression in normal and diseased human tissues
Applied Biosystems TaqMan ® Gene Expression Assays for RAB3GAP1
1 / 2 / 3 11 probe-sets matching RAB3GAP1 gene Data from
(Publications) and GNF BioGPS About these images About these images
CGAP SAGE TAG: GAGCTCAAGA
SOURCE GeneReport for Unigene cluster: Hs.306327 UniProtKB/Swiss-Prot: RB3GP_HUMAN, Q15042Tissue specificity: Ubiquitous |
Orthologs for RAB3GAP1
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
and/or
5MGI Jun 06 2009,
with possible further links to
Flybase
and/or
WormBase,
Gene Trees according to Ensembl)
About This Section
|
Orthologs for RAB3GAP1 gene from 5/8 species (see all 8
)
About this table Species with no ortholog for RAB3GAP1
ENSEMBL Gene Tree for RAB3GAP1 | Paralogs for RAB3GAP1(Paralogs according to 1HomoloGene and 2Ensembl, Pseudogenes according to 3Pseudogene.org) About This Section
| -- |
SNPs/Variants for RAB3GAP1(According to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE, and
UniProtKB,
Linkage Disequilibrium by HapMap,
Genotyping Reagents from
Applied Biosystems)
About This Section
|
HapMap Linkage Disequilibrium images for RAB3GAP1 (up to first 250kb)
|
Disorders & Mutations for RAB3GAP1
(in which this Gene is Involved, According to
OMIM, UniProtKB,
PharmGKB,
Genatlas, GeneTests,
Blood group antigen gene mutations by BGMUT,
HGMD, GAD,
HuGE Navigator,
BCGD,
and/or TGDB.)
About This Section
|
OMIM: 602536 disorders: 600118 UniProtKB/Swiss-Prot: RB3GP_HUMAN, Q15042
Defects in RAB3GAP1 are the cause of Warburg micro syndrome 1 (WARBM1) [MIM:600118]. WARBM1 is a severe autosomal recessive disorder characterized by developmental abnormalities of the eye and central nervous system and by microgenitaliaHuman Gene Mutation Database: RAB3GAP1
|
Medical News for RAB3GAP1(Possibly Related Articles in
Doctor's Guide)
About This Section
| -- |
Publications for RAB3GAP1 (in
PubMed.
Associations of this gene to articles via
1Novoseek,
2HGNC,
3Entrez Gene,
4UniProtKB/Swiss-Prot,
5UniProtKB/TrEMBL,
6GAD, and/or
7PharmGKB)
About This Section
| 10/27 PubMed articles for RAB3GAP1 gene (see all 27
):- Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndrome. (PubMed id 15696165)1, 2, 3, 4 Aligianis I.A....Maher E.R. (2005)
- Isolation and characterization of a GTPase activating protein specific for the Rab3 subfamily of small G proteins. (PubMed id 9030515)1, 2, 3, 4 Fukui K.... Takai Y. (1997)
- Biochemical characterization of Rab3-GTPase-activating protein reveals a mechanism similar to that of Ras-GAP. (PubMed id 10859313)1, 3, 4 Clabecq A.... Darchen F. (2000)
- Localization of the Rab3 small G protein regulators in nerve terminals and their involvement in Ca2+-dependent exocytosis. (PubMed id 9852129)1, 3, 4 Oishi H.... Takai Y. (1998)
- Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)3, 4 Olsen J.V....Mann M. (2006)
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)3, 4 Gerhard D.S....Malek J. (2004)
- Prediction of the coding sequences of unidentified human genes. II. The coding sequences of 40 new genes (KIAA0041-KIAA0080) deduced by analysis of cDNA clones from human cell line KG-1. (PubMed id 7584044)3, 4 Nomura N....Tabata S. (1994)
- A novel rabconnectin-3-binding protein that directly binds a GDP/GTP exchange protein for Rab3A small G protein implicated in Ca(2+)- dependent exocytosis of neurotransmitter. (PubMed id 12786944)1, 3 Kawabe H.... Takai Y. (2003)
- Phenotypic variability in Micro syndrome: report of new cases. (PubMed id 18286824)1, 3 Abdel-Salam G.M....Aligianis I.A. (2007)
- Identification and characterization of a novel Tre-2/Bub2/Cdc16 (TBC) protein that possesses Rab3A-GAP activity. (PubMed id 19077034)3 Ishibashi K.... Fukuda M. (2009)
|
Search for RAB3GAP1
(in PubMed,
OMIM, and NCBI Bookshelf) About This Section
|
|
Genome Databases showing RAB3GAP1
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
and/or
H-InvDB)
About This Section
|
| Other Databases showing RAB3GAP1
(According to HUGE)
About This Section
| |
Specialized Databases showing RAB3GAP1(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL, Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot) About This Section
|
| Name | Description |
| GeneReviews | http://www.genetests.org/query?gene=RAB3GAP1 |
|
| | | About This Section
| --
| Services for RAB3GAP1(Reagents available from Applied Biosystems, Antibodies and assays by Cell
Signaling Technology, Abcam, Novus Biologicals, Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich, Enzo Life Sciences, and/or Tocris Bioscience) About This Section
| 
 Products for RAB3GAP1:

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GeneCards Homepage - Last full update: 2 Jul 2009
Incremental update: 13 Oct 2009
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