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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

RABEP1 Gene

protein-coding   GIFtS: 58
GCID: GC17P005185

Rabaptin, RAB GTPase Binding Effector Protein 1

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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Rabaptin, RAB GTPase Binding Effector Protein 11 2     rabaptin-52
RABPT52 3 5     rabaptin-5alpha2
Renal Carcinoma Antigen NY-REN-172 3     RABPT5A3
RAB5EP2 3     Rabaptin-43
neurocrescin2     Rabaptin-53
Rab GTPase-Binding Effector Protein 12     Rabaptin-5alpha3
rabaptin-42     

External Ids:    HGNC: 176771   Entrez Gene: 91352   Ensembl: ENSG000000297257   OMIM: 6036165   UniProtKB: Q152763   

Export aliases for RABEP1 gene to outside databases

Previous GC identifers: GC17P005130 GC17P005386 GC17P005127 GC17P005076


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

GeneCards Summary for RABEP1 Gene: 
RABEP1 (rabaptin, RAB GTPase binding effector protein 1) is a protein-coding gene. Diseases associated with RABEP1 include chronic myelomonocytic leukemia, and phenylketonuria, and among its related super-pathways are Delta508-CFTR traffic / Sorting endosome formation in CF and Clathrin-dependent protein traffic. GO annotations related to this gene include growth factor activity and protein homodimerization activity. An important paralog of this gene is RABEP2.

UniProtKB/Swiss-Prot: RABE1_HUMAN, Q15276
Function: Rab effector protein acting as linker between gamma-adaptin, RAB4A and RAB5A. Involved in endocytic
membrane fusion and membrane trafficking of recycling endosomes. Stimulates RABGEF1 mediated nucleotide exchange
on RAB5A

Gene Wiki entry for RABEP1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000017.10  NT_010718.16  NC_018928.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the RABEP1 gene promoter:
         c-Fos   AP-1   MAZR   Egr-1   GATA-2   GATA-1   Egr-2   HFH-1   STAT3   c-Jun   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidRABEP1 promoter sequence
   Search SABiosciences Chromatin IP Primers for RABEP1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat RABEP1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 17p13.2   Ensembl cytogenetic band:  17p13.2   HGNC cytogenetic band: 17p13.2

RABEP1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
RABEP1 gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17P005185:  view genomic region     (about GC identifiers)

Start:
5,185,558 bp from pter      End:
5,289,132 bp from pter
Size:
103,575 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: RABE1_HUMAN, Q15276 (See protein sequence)
Recommended Name: Rab GTPase-binding effector protein 1  
Size: 862 amino acids; 99290 Da
Subunit: Homodimer when bound to RAB5A. Heterodimer with RABGEF1. The heterodimer binds RAB4A and RAB5A that have
been activated by GTP-binding. Binds TSC2, GGA1, GGA2, GGA3, AP1G1 and AP1G2. Interacts with ECM29
Subcellular location: Cytoplasm. Early endosome. Recycling endosome. Cytoplasmic vesicle
2 PDB 3D structures from and Proteopedia for RABEP1:
1TU3 (3D)        1X79 (3D)    
Secondary accessions: B2RAG7 O95369 Q8IVX3
Alternative splicing: 2 isoforms:  Q15276-1   Q15276-2   

Explore the universe of human proteins at neXtProt for RABEP1: NX_Q15276

Explore proteomics data for RABEP1 at MOPED 

Post-translational modifications:

  • UniProtKB: Proteolytic cleavage by caspases in apoptotic cells causes loss of endosome fusion activity
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q15276

  • RABEP1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    RABEP1 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001077054.1  NP_004694.2  

    ENSEMBL proteins: 
     ENSP00000459550   ENSP00000437701   ENSP00000339569   ENSP00000460980   ENSP00000466981  
     ENSP00000262477   ENSP00000386150   ENSP00000445408  

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    Cloud-Clone Corp. Proteins for RABEP1 

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005768endosome IDA--
    GO:0005769early endosome IEA--
    GO:0030139endocytic vesicle IDA--
    GO:0055037recycling endosome IEA--

    RABEP1 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    3 InterPro protein domains:
     IPR003914 Rabaptin
     IPR018514 Rabaptin_coiled-coil
     IPR015390 Rabaptin_Rab5-bd_dom

    Graphical View of Domain Structure for InterPro Entry Q15276

    ProtoNet protein and cluster: Q15276

    1 Blocks protein domain: IPB003914 Rabaptin signature

    UniProtKB/Swiss-Prot: RABE1_HUMAN, Q15276
    Similarity: Belongs to the rabaptin family


    RABEP1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: RABE1_HUMAN, Q15276
    Function: Rab effector protein acting as linker between gamma-adaptin, RAB4A and RAB5A. Involved in endocytic
    membrane fusion and membrane trafficking of recycling endosomes. Stimulates RABGEF1 mediated nucleotide exchange
    on RAB5A

         Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005096GTPase activator activity IEA--
    GO:0005515protein binding IPI12505986
    GO:0008083growth factor activity IEA--
    GO:0042803protein homodimerization activity IPI15378032
         
    RABEP1 for ontologies           About GeneDecksing


    Phenotypes:
         1 MGI phenotypic allele for Rabep1 (no phenotypes)

    RABEP1 for phenotypes           About GeneDecksing

    Animal Models:
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    SwitchGear 3'UTR luciferase reporter plasmidRABEP1 3' UTR sequence
    Inhib. RNA
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for RABEP1 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Normal wtCFTR traffic / Sorting endosome formation
    Delta508-CFTR traffic / Sorting endosome formation in CF0.77
    Normal wtCFTR traffic / Sorting endosome formation0.77
    2Clathrin-dependent protein traffic
    Transport Clathrin-coated vesicle cycle0.66
    3wtCFTR and deltaF508 traffic / Membrane expression (norm and CF)
    wtCFTR and deltaF508 traffic / Membrane expression (norm and CF)0.38
    4Endocytosis
    Endocytosis

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    4 GeneGo (Thomson Reuters) Pathways for RABEP1
        Normal wtCFTR traffic / Sorting endosome formation
    wtCFTR and deltaF508 traffic / Membrane expression (norm and CF)
    Delta508-CFTR traffic / Sorting endosome formation in CF
    Transport Clathrin-coated vesicle cycle


    1         Kegg Pathway  (Kegg details for RABEP1):
        Endocytosis


    RABEP1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for RABEP1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/34 Interacting proteins for RABEP1 (Q152761, 2, 3 ENSP000002624774) via UniProtKB, MINT, STRING, and/or I2D (see all 34)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    GGA1Q9UJY51, 3, ENSP000003413444EBI-447043,EBI-447141 I2D: score=4 STRING: ENSP00000341344
    YWHAGP619812, 3, ENSP000003063304MINT-50882 I2D: score=4 STRING: ENSP00000306330
    GGA2Q9UJY41, 2, 3, ENSP000003119624EBI-447043,EBI-447646 MINT-14026 I2D: score=5 STRING: ENSP00000311962
    AP1G1O437471, 3, ENSP000003771484EBI-447043,EBI-447609 I2D: score=4 STRING: ENSP00000377148
    GGA3Q9NZ521, 3, ENSP000002455414EBI-447043,EBI-447404 I2D: score=4 STRING: ENSP00000245541
    About this table

    Gene Ontology (GO): 4 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006897endocytosis IEA--
    GO:0006915apoptotic process IEA--
    GO:0015031protein transport IEA--
    GO:0061025membrane fusion TAS8521472

    RABEP1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    RABEP1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for RABEP1 (RABE1)

    1 HMDB Compound for RABEP1    About this table
    CompoundSynonyms CAS #PubMed Ids
    Guanosine triphosphate5'-GTP (see all 10)86-01-1--

    1 Novoseek inferred chemical compound relationship for RABEP1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    gtp 45.4 4 8521472 (2), 11718716 (1), 11309205 (1)

    Search CenterWatch for drugs/clinical trials and news about RABEP1 / RABE1

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for RABEP1 gene (2 alternative transcripts): 
    NM_001083585.1  NM_004703.4  

    Unigene Cluster for RABEP1:

    Rabaptin, RAB GTPase binding effector protein 1
    Hs.592121  [show with all ESTs]
    Unigene Representative Sequence: NM_004703
    10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000575991 ENST00000546142 ENST00000575475(uc010cld.1) ENST00000341923
    ENST00000570487 ENST00000574568 ENST00000572250 ENST00000262477(uc010vsw.1 uc002gbm.4)
    ENST00000408982(uc002gbj.3 uc002gbk.2 uc010clc.1 uc002gbl.4)
    ENST00000537505

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    Additional mRNA sequence: 

    AF098638.1 AK297535.1 AK310932.1 AK314183.1 AL050211.1 AL157499.1 BC018742.1 BC032435.1 
    BC041700.1 BC065242.1 X77723.1 X91141.1 

    22 DOTS entries:

    DT.120977918  DT.100815238  DT.120977695  DT.119229  DT.100880026  DT.99939415  DT.120977833  DT.95290006 
    DT.91684931  DT.91771989  DT.40254712  DT.92392354  DT.86859353  DT.95173253  DT.100815240  DT.75166583 
    DT.91684928  DT.97856963  DT.40195405  DT.75121287  DT.91948510  DT.91948883 

    24/390 AceView cDNA sequences (see all 390):

    AW007851 R59806 AA873800 BE300724 CB160655 BC032435 BX103338 AA412174 
    BM722352 BM980069 BF111647 AW503197 CF144023 BF434880 AI081498 AI203116 
    AA764899 AI888938 F07054 AA737336 AI367258 NM_004703 AI279300 AW504043 

    GeneLoc Exon Structure

    5/6 Alternative Splicing Database (ASD) splice patterns (SP) for RABEP1 (see all 6)    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11 ^ 12a · 12b ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21a · 21b
    SP1:              -                             -                                   -                                                                           
    SP2:              -                             -                                   -                                                     -                     
    SP3:                                                                                                                                                            
    SP4:              -     -     -                                                                                                                                 
    SP5:                                                                                                                                                            


    ECgene alternative splicing isoforms for RABEP1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    RABEP1 expression in normal human tissues (normalized intensities)      RABEP1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TCCACTCAGT
    RABEP1 Expression
    About this image


    RABEP1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/31 selected tissues (see all 31) fully expand
     
     Testis (Reproductive System)    fully expand to see all 4 entries
             Leydig Cells Testis Interstitium
             seminal vesicle ; glandular cells   
     
     Breast (Uncategorized)    fully expand to see all 4 entries
             breast ; myoepithelial cells   
             breast ductal cells   
     
     Colon (Gastrointestinal Tract)    fully expand to see all 4 entries
             colon ; peripheral nerve/ganglion   
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Epithelium
             oral mucosa ; squamous epithelial cells   

    See RABEP1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for RABEP1

    SOURCE GeneReport for Unigene cluster: Hs.592121
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    In Situ
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for RABEP1 gene from 7/17 species (see all 17)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Rabep11 , 5 rabaptin, RAB GTPase binding effector protein 11, 5 90.49(n)1
    96.29(a)1
      11 (43.21 cM)5
    541891  NM_019400.21  NP_062273.21 
     708447785 
    chicken
    (Gallus gallus)
    Aves RABEP11 rabaptin, RAB GTPase binding effector protein 1 79.96(n)
    88.02(a)
      395930  NM_205057.1  NP_990388.1 
    lizard
    (Anolis carolinensis)
    Reptilia RABEP16
    Uncharacterized protein
    83(a)
    1 ↔ 1
    GL343613.1(343124-366638)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.324472 Xenopus laevis transcribed sequence with weak similarity more 79.35(n)    BJ644291.1 
    zebrafish
    (Danio rerio)
    Actinopterygii rabep11 rabaptin, RAB GTPase binding effector protein 1 66.34(n)
    72.38(a)
      568064  NM_001123287.1  NP_001116759.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG40301 CG4030 41.23(n)
    27.55(a)
      37395  NM_137701.2  NP_611545.1 
    worm
    (Caenorhabditis elegans)
    Secernentea rabn-51 Protein RABN-5 42.95(n)
    30.87(a)
      175823  NM_065865.3  NP_498266.1 


    ENSEMBL Gene Tree for RABEP1 (if available)
    TreeFam Gene Tree for RABEP1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for RABEP1 gene
    RABEP22  

    RABEP1 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/2334 SNPs in RABEP1 are shown (see all 2334)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1160100171,2
    --5074177(+) ACTGAC/TTCTAA 2 -- us2k10--------
    rs2008979051,2
    C--5074197(+) TTATT-/ATTTGAGA 2 -- cds10--------
    rs1829079651,2
    --5074472(+) ACAGGC/TGTGAG 2 -- us2k10--------
    rs2001482551,2
    C--5074500(+) TTATT-/TTTTTT 2 -- us2k10--------
    rs1392595441,2
    --5074731(+) ATTCAA/GTTCCC 2 -- us2k10--------
    rs1886638291,2
    --5074780(+) CCTGTA/GTTAGT 2 -- us2k10--------
    rs1932551991,2
    --5074894(+) GCCATA/CGAGAG 2 -- us2k10--------
    rs1499457221,2
    --5074914(+) GGGAAA/GGAGAC 2 -- us2k10--------
    rs773185611,2
    C,F--5075050(+) ATTCCT/GGATGC 2 -- us2k15Minor allele frequency- G:0.13NA CSA WA EA 362
    rs1476539071,2
    C--5075080(+) AGCTTC/TTTAGG 2 -- us2k10--------

    HapMap Linkage Disequilibrium report for RABEP1 (5185558 - 5289132 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 8 variations for RABEP1:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2715568CNV Deletion23290073
    esv2670245CNV Deletion23128226
    esv2656673CNV Deletion23128226
    esv2715569CNV Deletion23290073
    esv2715567CNV Deletion23290073
    esv2664087CNV Deletion23128226
    nsv1955CNV Loss18451855
    nsv819082CNV Loss19587683

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 603616    OMIM disorders: --

    13 diseases for RABEP1:    About MalaCards
    chronic myelomonocytic leukemia    phenylketonuria    multiple system atrophy    tuberous sclerosis
    down syndrome    alzheimer's disease    macular degeneration    renal cell carcinoma
    ischemia    ataxia    leukemia    endotheliitis
    neuronitis


    RABEP1 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    2 Novoseek inferred disease relationships for RABEP1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    alzheimers disease 7.01 1 17961730 (1)
    tumors 0 1 11588050 (1)


    Export disorders for RABEP1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for RABEP1 gene, integrated from 9 sources (see all 88):
    (articles sorted by number of sources associating them with RABEP1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Rabaptin-5 is a direct effector of the small GTPase Rab5 in endocytic membrane fusion. (PubMed id 8521472)1, 2, 3, 9 Stenmark H.... Zerial M. (1995)
    2. Functional synergy between Rab5 effector Rabaptin-5 and exchange factor Rabex-5 when physically associated in a complex. (PubMed id 11452015)1, 2, 9 Lippe R.... Zerial M. (2001)
    3. Divalent interaction of the GGAs with the Rabaptin-5-Rabex-5 complex. (PubMed id 12505986)1, 2, 9 Mattera R.... Bonifacino J.S. (2003)
    4. A protein interaction network for Ecm29 links the 26 S proteasome to molecular motors and endosomal components. (PubMed id 20682791)1, 2 Gorbea C.... Rechsteiner M. (2010)
    5. Structural basis of Rab5-Rabaptin5 interaction in endocytosis. (PubMed id 15378032)1, 2 Zhu G.... Zhang X.C. (2004)
    6. Rabaptin4, a novel effector of the samll GTPase rab4a, is recruited to perinuclear recycling vesicles. (PubMed id 10698684)1, 2 Nagelkerken B.... van der Sluijs P. (2000)
    7. The tuberous sclerosis 2 gene product, tuberin, functions as a Rab5 GTPase activating protein (GAP) in modulating endocytosis. (PubMed id 9045618)1, 2 Xiao G.-H.... Yeung R.S. (1997)
    8. The interaction of the human GGA1 GAT domain with rabaptin-5 is mediated by residues on its three-helix bundle. (PubMed id 14636058)1, 9 Zhai P....Zhang X.C. (2003)
    9. Rabaptin-5alpha/rabaptin-4 serves as a linker between rab4 and gamma(1)-adaptin in membrane recycling from endosomes. (PubMed id 12773381)2, 9 Deneka M.... van der Sluijs P. (2003)
    10. Distinct Rab-binding domains mediate the interaction of Rabaptin-5 with GTP-bound Rab4 and Rab5. (PubMed id 9524117)1, 9 Vitale G....Zerial M. (1998)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 9135 HGNC: 17677 AceView: RABEP1 Ensembl:ENSG00000029725 euGenes: HUgn9135
    ECgene: RABEP1 Kegg: 9135 H-InvDB: RABEP1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for RABEP1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for RABEP1 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for RABEP1 gene:
    Search GeneIP for patents involving RABEP1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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