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RAB3GAP1 (RAB3 GTPase activating protein catalytic subunit 1)

Identity

Alias_namesRAB3 GTPase activating protein subunit 1 (catalytic)
Alias_symbol (synonym)RAB3GAP
KIAA0066
RAB3GAP130
WARBM1
Other aliasP130
HGNC (Hugo) RAB3GAP1
LocusID (NCBI) 22930
Atlas_Id 56523
Location 2q21.3  [Link to chromosome band 2q21]
Location_base_pair Starts at 135052265 and ends at 135170709 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
RAB3GAP1 (2q21.3) / ACMSD (2q21.3)RAB3GAP1 (2q21.3) / CCNT2 (2q21.3)RAB3GAP1 (2q21.3) / CHMP1A (16q24.3)
RAB3GAP1 (2q21.3) / ILDR2 (1q24.1)RAB3GAP1 (2q21.3) / MAP4K3 (2p22.1)RAB3GAP1 (2q21.3) / RAB3GAP1 (2q21.3)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)RAB3GAP1   17063
Cards
Entrez_Gene (NCBI)RAB3GAP1  22930  RAB3 GTPase activating protein catalytic subunit 1
AliasesP130; RAB3GAP; RAB3GAP130; WARBM1
GeneCards (Weizmann)RAB3GAP1
Ensembl hg19 (Hinxton)ENSG00000115839 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000115839 [Gene_View]  chr2:135052265-135170709 [Contig_View]  RAB3GAP1 [Vega]
ICGC DataPortalENSG00000115839
TCGA cBioPortalRAB3GAP1
AceView (NCBI)RAB3GAP1
Genatlas (Paris)RAB3GAP1
WikiGenes22930
SOURCE (Princeton)RAB3GAP1
Genetics Home Reference (NIH)RAB3GAP1
Genomic and cartography
GoldenPath hg38 (UCSC)RAB3GAP1  -     chr2:135052265-135170709 +  2q21.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)RAB3GAP1  -     2q21.3   [Description]    (hg19-Feb_2009)
EnsemblRAB3GAP1 - 2q21.3 [CytoView hg19]  RAB3GAP1 - 2q21.3 [CytoView hg38]
Mapping of homologs : NCBIRAB3GAP1 [Mapview hg19]  RAB3GAP1 [Mapview hg38]
OMIM600118   602536   
Gene and transcription
Genbank (Entrez)AB449877 AK022494 AK056058 AK309118 AL096752
RefSeq transcript (Entrez)NM_001172435 NM_012233
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)RAB3GAP1
Cluster EST : UnigeneHs.306327 [ NCBI ]
CGAP (NCI)Hs.306327
Alternative Splicing GalleryENSG00000115839
Gene ExpressionRAB3GAP1 [ NCBI-GEO ]   RAB3GAP1 [ EBI - ARRAY_EXPRESS ]   RAB3GAP1 [ SEEK ]   RAB3GAP1 [ MEM ]
Gene Expression Viewer (FireBrowse)RAB3GAP1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)22930
GTEX Portal (Tissue expression)RAB3GAP1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ15042   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ15042  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ15042
Splice isoforms : SwissVarQ15042
PhosPhoSitePlusQ15042
Domains : Interpro (EBI)Rab3-GAP_cat_su   
Domain families : Pfam (Sanger)Rab3-GTPase_cat (PF13890)   
Domain families : Pfam (NCBI)pfam13890   
Conserved Domain (NCBI)RAB3GAP1
DMDM Disease mutations22930
Blocks (Seattle)RAB3GAP1
SuperfamilyQ15042
Human Protein AtlasENSG00000115839
Peptide AtlasQ15042
HPRD16002
IPIIPI00014235   IPI00555624   IPI00927682   IPI00927898   
Protein Interaction databases
DIP (DOE-UCLA)Q15042
IntAct (EBI)Q15042
FunCoupENSG00000115839
BioGRIDRAB3GAP1
STRING (EMBL)RAB3GAP1
ZODIACRAB3GAP1
Ontologies - Pathways
QuickGOQ15042
Ontology : AmiGOguanyl-nucleotide exchange factor activity  GTPase activator activity  GTPase activator activity  endoplasmic reticulum membrane  Golgi apparatus  lipid particle  cytosol  brain development  positive regulation of gene expression  Rab guanyl-nucleotide exchange factor activity  Rab GTPase binding  hypothalamus development  lipid particle organization  camera-type eye development  regulation of GTPase activity  protein complex  positive regulation of GTPase activity  positive regulation of GTPase activity  regulation of short-term neuronal synaptic plasticity  excitatory postsynaptic potential  face morphogenesis  membrane organization  positive regulation of glutamate neurotransmitter secretion in response to membrane depolarization  extracellular exosome  endoplasmic reticulum tubular network  establishment of protein localization to endoplasmic reticulum membrane  postsynapse  positive regulation of protein lipidation  regulation of calcium ion-dependent exocytosis of neurotransmitter  positive regulation of endoplasmic reticulum tubular network organization  positive regulation of autophagosome assembly  
Ontology : EGO-EBIguanyl-nucleotide exchange factor activity  GTPase activator activity  GTPase activator activity  endoplasmic reticulum membrane  Golgi apparatus  lipid particle  cytosol  brain development  positive regulation of gene expression  Rab guanyl-nucleotide exchange factor activity  Rab GTPase binding  hypothalamus development  lipid particle organization  camera-type eye development  regulation of GTPase activity  protein complex  positive regulation of GTPase activity  positive regulation of GTPase activity  regulation of short-term neuronal synaptic plasticity  excitatory postsynaptic potential  face morphogenesis  membrane organization  positive regulation of glutamate neurotransmitter secretion in response to membrane depolarization  extracellular exosome  endoplasmic reticulum tubular network  establishment of protein localization to endoplasmic reticulum membrane  postsynapse  positive regulation of protein lipidation  regulation of calcium ion-dependent exocytosis of neurotransmitter  positive regulation of endoplasmic reticulum tubular network organization  positive regulation of autophagosome assembly  
NDEx NetworkRAB3GAP1
Atlas of Cancer Signalling NetworkRAB3GAP1
Wikipedia pathwaysRAB3GAP1
Orthology - Evolution
OrthoDB22930
GeneTree (enSembl)ENSG00000115839
Phylogenetic Trees/Animal Genes : TreeFamRAB3GAP1
HOVERGENQ15042
HOGENOMQ15042
Homologs : HomoloGeneRAB3GAP1
Homology/Alignments : Family Browser (UCSC)RAB3GAP1
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerRAB3GAP1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)RAB3GAP1
dbVarRAB3GAP1
ClinVarRAB3GAP1
1000_GenomesRAB3GAP1 
Exome Variant ServerRAB3GAP1
ExAC (Exome Aggregation Consortium)RAB3GAP1 (select the gene name)
Genetic variants : HAPMAP22930
Genomic Variants (DGV)RAB3GAP1 [DGVbeta]
DECIPHERRAB3GAP1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisRAB3GAP1 
Mutations
ICGC Data PortalRAB3GAP1 
TCGA Data PortalRAB3GAP1 
Broad Tumor PortalRAB3GAP1
OASIS PortalRAB3GAP1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICRAB3GAP1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDRAB3GAP1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)MRC Human Genetics Unit LOVD at MRC IGMM
BioMutasearch RAB3GAP1
DgiDB (Drug Gene Interaction Database)RAB3GAP1
DoCM (Curated mutations)RAB3GAP1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)RAB3GAP1 (select a term)
intoGenRAB3GAP1
Cancer3DRAB3GAP1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM600118    602536   
Orphanet1593    2322   
MedgenRAB3GAP1
Genetic Testing Registry RAB3GAP1
NextProtQ15042 [Medical]
TSGene22930
GENETestsRAB3GAP1
Target ValidationRAB3GAP1
Huge Navigator RAB3GAP1 [HugePedia]
snp3D : Map Gene to Disease22930
BioCentury BCIQRAB3GAP1
ClinGenRAB3GAP1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD22930
Chemical/Pharm GKB GenePA134969639
Clinical trialRAB3GAP1
Miscellaneous
canSAR (ICR)RAB3GAP1 (select the gene name)
Probes
Litterature
PubMed52 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineRAB3GAP1
EVEXRAB3GAP1
GoPubMedRAB3GAP1
iHOPRAB3GAP1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Wed Jun 7 12:52:11 CEST 2017

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