Atlas of Genetics and Cytogenetics in Oncology and Haematology


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RABGEF1 (RAB guanine nucleotide exchange factor 1)

Identity

Alias_namesRAB guanine nucleotide exchange factor (GEF) 1
Alias_symbol (synonym)rabex-5
RABEX5
Other aliasRAP1
HGNC (Hugo) RABGEF1
LocusID (NCBI) 27342
Atlas_Id 43442
Location 7q11.21  [Link to chromosome band 7q11]
Location_base_pair Starts at 66682091 and ends at 66811461 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
RABGEF1 (7q11.21) / FNBP4 (11p11.2)RABGEF1 (7q11.21) / GNB1 (1p36.33)RABGEF1 (7q11.21) / NQO2 (6p25.2)
TP73-AS1 (1p36.32) / RABGEF1 (7q11.21)

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)RABGEF1   17676
Cards
Entrez_Gene (NCBI)RABGEF1  27342  RAB guanine nucleotide exchange factor 1
AliasesRABEX5; RAP1; rabex-5
GeneCards (Weizmann)RABGEF1
Ensembl hg19 (Hinxton)ENSG00000154710 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000154710 [Gene_View]  chr7:66682091-66811461 [Contig_View]  RABGEF1 [Vega]
ICGC DataPortalENSG00000154710
TCGA cBioPortalRABGEF1
AceView (NCBI)RABGEF1
Genatlas (Paris)RABGEF1
WikiGenes27342
SOURCE (Princeton)RABGEF1
Genetics Home Reference (NIH)RABGEF1
Genomic and cartography
GoldenPath hg38 (UCSC)RABGEF1  -     chr7:66682091-66811461 +  7q11.21   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)RABGEF1  -     7q11.21   [Description]    (hg19-Feb_2009)
EnsemblRABGEF1 - 7q11.21 [CytoView hg19]  RABGEF1 - 7q11.21 [CytoView hg38]
Mapping of homologs : NCBIRABGEF1 [Mapview hg19]  RABGEF1 [Mapview hg38]
OMIM609700   
Gene and transcription
Genbank (Entrez)AA643570 AI017520 AI061350 AJ250042 AK001702
RefSeq transcript (Entrez)NM_001287060 NM_001287061 NM_001287062 NM_014504
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)RABGEF1
Cluster EST : UnigeneHs.733181 [ NCBI ]
CGAP (NCI)Hs.733181
Alternative Splicing GalleryENSG00000154710
Gene ExpressionRABGEF1 [ NCBI-GEO ]   RABGEF1 [ EBI - ARRAY_EXPRESS ]   RABGEF1 [ SEEK ]   RABGEF1 [ MEM ]
Gene Expression Viewer (FireBrowse)RABGEF1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)27342
GTEX Portal (Tissue expression)RABGEF1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9UJ41   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9UJ41  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9UJ41
Splice isoforms : SwissVarQ9UJ41
PhosPhoSitePlusQ9UJ41
Domaine pattern : Prosite (Expaxy)VPS9 (PS51205)    ZF_A20 (PS51036)   
Domains : Interpro (EBI)VPS9    Znf_A20   
Domain families : Pfam (Sanger)VPS9 (PF02204)    zf-A20 (PF01754)   
Domain families : Pfam (NCBI)pfam02204    pfam01754   
Domain families : Smart (EMBL)VPS9 (SM00167)  ZnF_A20 (SM00259)  
Conserved Domain (NCBI)RABGEF1
DMDM Disease mutations27342
Blocks (Seattle)RABGEF1
PDB (SRS)1TXU    2C7M    2C7N    2OT3    4N3X    4N3Y    4N3Z    4Q9U   
PDB (PDBSum)1TXU    2C7M    2C7N    2OT3    4N3X    4N3Y    4N3Z    4Q9U   
PDB (IMB)1TXU    2C7M    2C7N    2OT3    4N3X    4N3Y    4N3Z    4Q9U   
PDB (RSDB)1TXU    2C7M    2C7N    2OT3    4N3X    4N3Y    4N3Z    4Q9U   
Structural Biology KnowledgeBase1TXU    2C7M    2C7N    2OT3    4N3X    4N3Y    4N3Z    4Q9U   
SCOP (Structural Classification of Proteins)1TXU    2C7M    2C7N    2OT3    4N3X    4N3Y    4N3Z    4Q9U   
CATH (Classification of proteins structures)1TXU    2C7M    2C7N    2OT3    4N3X    4N3Y    4N3Z    4Q9U   
SuperfamilyQ9UJ41
Human Protein AtlasENSG00000154710
Peptide AtlasQ9UJ41
IPIIPI00418213   IPI00816003   IPI00004974   
Protein Interaction databases
DIP (DOE-UCLA)Q9UJ41
IntAct (EBI)Q9UJ41
FunCoupENSG00000154710
BioGRIDRABGEF1
STRING (EMBL)RABGEF1
ZODIACRABGEF1
Ontologies - Pathways
QuickGOQ9UJ41
Ontology : AmiGOnegative regulation of protein phosphorylation  negative regulation of leukocyte migration  DNA binding  protein binding  nucleolus  early endosome  cytosol  cytosol  protein targeting to membrane  endocytosis  zinc ion binding  protein ubiquitination  Rab guanyl-nucleotide exchange factor activity  Rab guanyl-nucleotide exchange factor activity  Rab guanyl-nucleotide exchange factor activity  Rab GTPase binding  early endosome membrane  negative regulation of mast cell degranulation  positive regulation of GTPase activity  negative regulation of Ras protein signal transduction  negative regulation of receptor-mediated endocytosis  negative regulation of inflammatory response  recycling endosome  regulation of Fc receptor mediated stimulatory signaling pathway  membrane organization  ubiquitin protein ligase activity  negative regulation of interleukin-6 secretion  negative regulation of Kit signaling pathway  
Ontology : EGO-EBInegative regulation of protein phosphorylation  negative regulation of leukocyte migration  DNA binding  protein binding  nucleolus  early endosome  cytosol  cytosol  protein targeting to membrane  endocytosis  zinc ion binding  protein ubiquitination  Rab guanyl-nucleotide exchange factor activity  Rab guanyl-nucleotide exchange factor activity  Rab guanyl-nucleotide exchange factor activity  Rab GTPase binding  early endosome membrane  negative regulation of mast cell degranulation  positive regulation of GTPase activity  negative regulation of Ras protein signal transduction  negative regulation of receptor-mediated endocytosis  negative regulation of inflammatory response  recycling endosome  regulation of Fc receptor mediated stimulatory signaling pathway  membrane organization  ubiquitin protein ligase activity  negative regulation of interleukin-6 secretion  negative regulation of Kit signaling pathway  
NDEx NetworkRABGEF1
Atlas of Cancer Signalling NetworkRABGEF1
Wikipedia pathwaysRABGEF1
Orthology - Evolution
OrthoDB27342
GeneTree (enSembl)ENSG00000154710
Phylogenetic Trees/Animal Genes : TreeFamRABGEF1
HOVERGENQ9UJ41
HOGENOMQ9UJ41
Homologs : HomoloGeneRABGEF1
Homology/Alignments : Family Browser (UCSC)RABGEF1
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerRABGEF1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)RABGEF1
dbVarRABGEF1
ClinVarRABGEF1
1000_GenomesRABGEF1 
Exome Variant ServerRABGEF1
ExAC (Exome Aggregation Consortium)RABGEF1 (select the gene name)
Genetic variants : HAPMAP27342
Genomic Variants (DGV)RABGEF1 [DGVbeta]
DECIPHERRABGEF1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisRABGEF1 
Mutations
ICGC Data PortalRABGEF1 
TCGA Data PortalRABGEF1 
Broad Tumor PortalRABGEF1
OASIS PortalRABGEF1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICRABGEF1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDRABGEF1
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
BioMutasearch RABGEF1
DgiDB (Drug Gene Interaction Database)RABGEF1
DoCM (Curated mutations)RABGEF1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)RABGEF1 (select a term)
intoGenRABGEF1
Cancer3DRABGEF1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM609700   
Orphanet
MedgenRABGEF1
Genetic Testing Registry RABGEF1
NextProtQ9UJ41 [Medical]
TSGene27342
GENETestsRABGEF1
Target ValidationRABGEF1
Huge Navigator RABGEF1 [HugePedia]
snp3D : Map Gene to Disease27342
BioCentury BCIQRABGEF1
ClinGenRABGEF1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD27342
Chemical/Pharm GKB GenePA134946532
Clinical trialRABGEF1
Miscellaneous
canSAR (ICR)RABGEF1 (select the gene name)
Probes
Litterature
PubMed52 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineRABGEF1
EVEXRABGEF1
GoPubMedRABGEF1
iHOPRABGEF1
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 12:52:19 CEST 2017

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