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RABEP1 (rabaptin, RAB GTPase binding effector protein 1)

Identity

Alias_symbol (synonym)neurocrescin
RAB5EP
RABPT5
rabaptin-5
Other alias
HGNC (Hugo) RABEP1
LocusID (NCBI) 9135
Atlas_Id 42014
Location 17p13.2  [Link to chromosome band 17p13]
Location_base_pair Starts at 5282263 and ends at 5386339 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
ATP1A1 (1p13.1) / RABEP1 (17p13.2)C3 (19p13.3) / RABEP1 (17p13.2)HNRNPA2B1 (7p15.2) / RABEP1 (17p13.2)
NCAM1 (11q23.2) / RABEP1 (17p13.2)NDRG2 (14q11.2) / RABEP1 (17p13.2)PDGFRB (5q32) / RABEP1 (17p13.2)
PIGL (17p11.2) / RABEP1 (17p13.2)RAB7A (3q21.3) / RABEP1 (17p13.2)RABEP1 (17p13.2) / ALG14 (1p21.3)
RABEP1 (17p13.2) / ASPA (17p13.2)RABEP1 (17p13.2) / EIF4G1 (3q27.1)RABEP1 (17p13.2) / MINK1 (17p13.2)
RABEP1 (17p13.2) / NUP88 (17p13.2)RABEP1 (17p13.2) / OTULIN (5p15.2)RABEP1 (17p13.2) / PDGFRB (5q32)
RABEP1 (17p13.2) / PIGL (17p11.2)RABEP1 (17p13.2) / RABEP1 (17p13.2)RABEP1 (17p13.2) / RORB (9q21.13)
RPL8 (8q24.3) / RABEP1 (17p13.2)SERPINE2 (2q36.1) / RABEP1 (17p13.2)SLC1A3 (5p13.2) / RABEP1 (17p13.2)
SLC9A3R1 (17q25.1) / RABEP1 (17p13.2)SNRNP70 (19q13.33) / RABEP1 (17p13.2)TFF1 (21q22.3) / RABEP1 (17p13.2)
TLK1 (2q31.1) / RABEP1 (17p13.2)TRPM8 (2q37.1) / RABEP1 (17p13.2)ATP1A1 1p13.1 / RABEP1 17p13.2
C3 19p13.3 / RABEP1 17p13.2HNRNPA2B1 7p15.2 / RABEP1 17p13.2NDRG2 14q11.2 / RABEP1 17p13.2
RAB7A 3q21.3 / RABEP1 17p13.2RABEP1 17p13.2 / ASPA 17p13.2RABEP1 17p13.2 / MINK1 17p13.2
RABEP1 17p13.2 / NUP88 17p13.2RABEP1 17p13.2 / PIGL 17p11.2RABEP1 17p13.2 / RORB 9q21.13
RPL8 8q24.3 / RABEP1 17p13.2SERPINE2 2q36.1 / RABEP1 17p13.2SLC1A3 5p13.2 / RABEP1 17p13.2
SLC9A3R1 17q25.1 / RABEP1 17p13.2SNRNP70 19q13.33 / RABEP1 17p13.2TFF1 21q22.3 / RABEP1 17p13.2
TRPM8 2q37.1 / RABEP1 17p13.2

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

 


Other Leukemias implicated (Data extracted from papers in the Atlas) [ 1 ]
  t(5;17)(q33;p13) RABEP1/PDGFRB


Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 3 ]
  Lymphangioleiomyomatosis
Bone: Aneurysmal bone cyst with t(5;17)(q33;p13) RABEP1/PDGFRB
Lung: Translocations in Squamous Cell Carcinoma


External links

Nomenclature
HGNC (Hugo)RABEP1   17677
Cards
Entrez_Gene (NCBI)RABEP1  9135  rabaptin, RAB GTPase binding effector protein 1
AliasesRAB5EP; RABPT5
GeneCards (Weizmann)RABEP1
Ensembl hg19 (Hinxton)ENSG00000029725 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000029725 [Gene_View]  chr17:5282263-5386339 [Contig_View]  RABEP1 [Vega]
ICGC DataPortalENSG00000029725
TCGA cBioPortalRABEP1
AceView (NCBI)RABEP1
Genatlas (Paris)RABEP1
WikiGenes9135
SOURCE (Princeton)RABEP1
Genetics Home Reference (NIH)RABEP1
Genomic and cartography
GoldenPath hg38 (UCSC)RABEP1  -     chr17:5282263-5386339 +  17p13.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)RABEP1  -     17p13.2   [Description]    (hg19-Feb_2009)
EnsemblRABEP1 - 17p13.2 [CytoView hg19]  RABEP1 - 17p13.2 [CytoView hg38]
Mapping of homologs : NCBIRABEP1 [Mapview hg19]  RABEP1 [Mapview hg38]
OMIM603616   
Gene and transcription
Genbank (Entrez)AA873800 AF098638 AK297535 AK310932 AK314183
RefSeq transcript (Entrez)NM_001083585 NM_001291581 NM_001291582 NM_004703
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)RABEP1
Cluster EST : UnigeneHs.732542 [ NCBI ]
CGAP (NCI)Hs.732542
Alternative Splicing GalleryENSG00000029725
Gene ExpressionRABEP1 [ NCBI-GEO ]   RABEP1 [ EBI - ARRAY_EXPRESS ]   RABEP1 [ SEEK ]   RABEP1 [ MEM ]
Gene Expression Viewer (FireBrowse)RABEP1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)9135
GTEX Portal (Tissue expression)RABEP1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ15276   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ15276  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ15276
Splice isoforms : SwissVarQ15276
PhosPhoSitePlusQ15276
Domains : Interpro (EBI)Rabaptin    Rabaptin-5    Rabaptin_coiled-coil    Rabaptin_Rab5-bd_dom   
Domain families : Pfam (Sanger)Rab5-bind (PF09311)    Rabaptin (PF03528)   
Domain families : Pfam (NCBI)pfam09311    pfam03528   
Conserved Domain (NCBI)RABEP1
DMDM Disease mutations9135
Blocks (Seattle)RABEP1
PDB (SRS)1P4U    1TU3    1X79    4N3Y    4N3Z    4Q9U   
PDB (PDBSum)1P4U    1TU3    1X79    4N3Y    4N3Z    4Q9U   
PDB (IMB)1P4U    1TU3    1X79    4N3Y    4N3Z    4Q9U   
PDB (RSDB)1P4U    1TU3    1X79    4N3Y    4N3Z    4Q9U   
Structural Biology KnowledgeBase1P4U    1TU3    1X79    4N3Y    4N3Z    4Q9U   
SCOP (Structural Classification of Proteins)1P4U    1TU3    1X79    4N3Y    4N3Z    4Q9U   
CATH (Classification of proteins structures)1P4U    1TU3    1X79    4N3Y    4N3Z    4Q9U   
SuperfamilyQ15276
Human Protein AtlasENSG00000029725
Peptide AtlasQ15276
HPRD04684
IPIIPI00293009   IPI00412712   IPI01011316   IPI01014329   
Protein Interaction databases
DIP (DOE-UCLA)Q15276
IntAct (EBI)Q15276
FunCoupENSG00000029725
BioGRIDRABEP1
STRING (EMBL)RABEP1
ZODIACRABEP1
Ontologies - Pathways
QuickGOQ15276
Ontology : AmiGOGTPase activator activity  protein binding  endosome  early endosome  endocytosis  apoptotic process  growth factor activity  protein transport  vesicle-mediated transport  protein domain specific binding  endocytic vesicle  early endosome membrane  protein homodimerization activity  intracellular membrane-bounded organelle  protein complex  positive regulation of GTPase activity  recycling endosome  membrane organization  membrane fusion  
Ontology : EGO-EBIGTPase activator activity  protein binding  endosome  early endosome  endocytosis  apoptotic process  growth factor activity  protein transport  vesicle-mediated transport  protein domain specific binding  endocytic vesicle  early endosome membrane  protein homodimerization activity  intracellular membrane-bounded organelle  protein complex  positive regulation of GTPase activity  recycling endosome  membrane organization  membrane fusion  
Pathways : KEGGEndocytosis   
NDEx NetworkRABEP1
Atlas of Cancer Signalling NetworkRABEP1
Wikipedia pathwaysRABEP1
Orthology - Evolution
OrthoDB9135
GeneTree (enSembl)ENSG00000029725
Phylogenetic Trees/Animal Genes : TreeFamRABEP1
HOVERGENQ15276
HOGENOMQ15276
Homologs : HomoloGeneRABEP1
Homology/Alignments : Family Browser (UCSC)RABEP1
Gene fusions - Rearrangements
Fusion : MitelmanATP1A1/RABEP1 [1p13.1/17p13.2]  [t(1;17)(p13;p13)]  
Fusion : MitelmanC3/RABEP1 [19p13.3/17p13.2]  [t(17;19)(p13;p13)]  
Fusion : MitelmanHNRNPA2B1/RABEP1 [7p15.2/17p13.2]  [t(7;17)(p15;p13)]  
Fusion : MitelmanNDRG2/RABEP1 [14q11.2/17p13.2]  [t(14;17)(q11;p13)]  
Fusion : MitelmanPIGL/RABEP1 [17p11.2/17p13.2]  [t(17;17)(p11;p13)]  
Fusion : MitelmanRAB7A/RABEP1 [3q21.3/17p13.2]  [t(3;17)(q21;p13)]  
Fusion : MitelmanRABEP1/ASPA [17p13.2/17p13.2]  [t(17;17)(p13;p13)]  
Fusion : MitelmanRABEP1/MINK1 [17p13.2/17p13.2]  [t(17;17)(p13;p13)]  
Fusion : MitelmanRABEP1/NUP88 [17p13.2/17p13.2]  [t(17;17)(p13;p13)]  
Fusion : MitelmanRABEP1/PDGFRB [17p13.2/5q32]  [t(5;17)(q32;p13)]  
Fusion : MitelmanRABEP1/PIGL [17p13.2/17p11.2]  [t(17;17)(p11;p13)]  
Fusion : MitelmanRABEP1/RORB [17p13.2/9q21.13]  [t(9;17)(q21;p13)]  
Fusion : MitelmanRPL8/RABEP1 [8q24.3/17p13.2]  [t(8;17)(q24;p13)]  
Fusion : MitelmanSERPINE2/RABEP1 [2q36.1/17p13.2]  [t(2;17)(q36;p13)]  
Fusion : MitelmanSLC1A3/RABEP1 [5p13.2/17p13.2]  [t(5;17)(p13;p13)]  
Fusion : MitelmanSLC9A3R1/RABEP1 [17q25.1/17p13.2]  [t(17;17)(p13;q25)]  
Fusion : MitelmanSNRNP70/RABEP1 [19q13.33/17p13.2]  [t(17;19)(p13;q13)]  
Fusion : MitelmanTFF1/RABEP1 [21q22.3/17p13.2]  [t(17;21)(p13;q22)]  
Fusion : MitelmanTRPM8/RABEP1 [2q37.1/17p13.2]  [t(2;17)(q37;p13)]  
Fusion: TCGAATP1A1 1p13.1 RABEP1 17p13.2 BRCA
Fusion: TCGAC3 19p13.3 RABEP1 17p13.2 LGG
Fusion: TCGAHNRNPA2B1 7p15.2 RABEP1 17p13.2 HNSC
Fusion: TCGANDRG2 14q11.2 RABEP1 17p13.2 LGG
Fusion: TCGARAB7A 3q21.3 RABEP1 17p13.2 LGG
Fusion: TCGARABEP1 17p13.2 ASPA 17p13.2 BRCA
Fusion: TCGARABEP1 17p13.2 MINK1 17p13.2 PRAD
Fusion: TCGARABEP1 17p13.2 NUP88 17p13.2 BRCA
Fusion: TCGARABEP1 17p13.2 PIGL 17p11.2 LUSC
Fusion: TCGARABEP1 17p13.2 RORB 9q21.13 BRCA
Fusion: TCGARPL8 8q24.3 RABEP1 17p13.2 HNSC
Fusion: TCGASERPINE2 2q36.1 RABEP1 17p13.2 SKCM
Fusion: TCGASLC1A3 5p13.2 RABEP1 17p13.2 LGG
Fusion: TCGASLC9A3R1 17q25.1 RABEP1 17p13.2 BRCA
Fusion: TCGASNRNP70 19q13.33 RABEP1 17p13.2 BRCA
Fusion: TCGATFF1 21q22.3 RABEP1 17p13.2 LUAD
Fusion: TCGATRPM8 2q37.1 RABEP1 17p13.2 PRAD
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerRABEP1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)RABEP1
dbVarRABEP1
ClinVarRABEP1
1000_GenomesRABEP1 
Exome Variant ServerRABEP1
ExAC (Exome Aggregation Consortium)RABEP1 (select the gene name)
Genetic variants : HAPMAP9135
Genomic Variants (DGV)RABEP1 [DGVbeta]
DECIPHERRABEP1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisRABEP1 
Mutations
ICGC Data PortalRABEP1 
TCGA Data PortalRABEP1 
Broad Tumor PortalRABEP1
OASIS PortalRABEP1 [ Somatic mutations - Copy number]
Cancer Gene: CensusRABEP1 
Somatic Mutations in Cancer : COSMICRABEP1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDRABEP1
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 RABEP1
DgiDB (Drug Gene Interaction Database)RABEP1
DoCM (Curated mutations)RABEP1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)RABEP1 (select a term)
intoGenRABEP1
Cancer3DRABEP1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM603616   
Orphanet
MedgenRABEP1
Genetic Testing Registry RABEP1
NextProtQ15276 [Medical]
TSGene9135
GENETestsRABEP1
Target ValidationRABEP1
Huge Navigator RABEP1 [HugePedia]
snp3D : Map Gene to Disease9135
BioCentury BCIQRABEP1
ClinGenRABEP1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD9135
Chemical/Pharm GKB GenePA134884097
Clinical trialRABEP1
Miscellaneous
canSAR (ICR)RABEP1 (select the gene name)
Probes
Litterature
PubMed64 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineRABEP1
EVEXRABEP1
GoPubMedRABEP1
iHOPRABEP1
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 12:52:18 CEST 2017

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