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FLASH GENE
Symbol RABEP1 contributors: mct - updated : 05-03-2015
HGNC name rabaptin, RAB GTPase binding effector protein 1
HGNC id 17677
Location 17p13.2      Physical location : 5.185.557 - 5.289.131
Synonym name
  • rabaptin-5
  • neurocrescin
  • rabaptin-4
  • rabaptin-5alpha
  • renal carcinoma antigen NY-REN-17
  • Synonym symbol(s) RAB5EP, RABPT5, NY-REN-17
    DNA
    TYPE functioning gene
    STRUCTURE 103.55 kb     18 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status confirmed
    Physical map
    TM4SF5 17p13.3 transmembrane 4 superfamily member 5 LOC284013 17p13.3 secretory protein LOC284013 LOC388323 17 similar to RIKEN cDNA C730027E14 PSMB6 17p13 proteasome (prosome, macropain) subunit, beta type, 6 PLD2 17p13.1 phospholipase D2 LOC284015 17p13.3 similar to Vacuolar ATP synthase 16 kDa proteolipid subunit MINK 17p13 similar to Vacuolar ATP synthase 16 kDa proteolipid subunit CHRNE 17p13.1 cholinergic receptor, nicotinic, epsilon polypeptide GP1BA 17pter-p12 glycoprotein Ib (platelet), alpha polypeptide SLC25A11 17p13.3 solute carrier family 25 (mitochondrial carrier; oxoglutarate carrier), member 11 DKFZP566H073 17p13.3 DKFZP566H073 protein PFN1 17p13.3 profilin 1 ENO3 17pter-p12 enolase 3, (beta, muscle) SPAG7 17p13.2 sperm associated antigen 7 CAMTA2 17p13.3 calmodulin binding transcription activator 2 LOC388324 17 LOC388324 KIF1C 17p13 kinesin family member 1C FLJ10060 17p13.3 putative G-protein coupled receptor GPCR42 FLJ30726 17p13.3 hypothetical protein FLJ30726 ZNF232 17p13-p12 zinc finger protein 232 USP6 17q11 ubiquitin specific protease 6 (Tre-2 oncogene) KIAA1871 17p13 KIAA1871 protein LOC388325 17 similar to DTFT5783 RABEP1 17p13.1 rabaptin, RAB GTPase binding effector protein 1 NUP88 17p13.2-p13.1 nucleoporin 88kDa MGC4189 17p13.3 hypothetical protein MGC4189 C1QBP 17p13.3 complement component 1, q subcomponent binding protein DHX33 17p13.2 DEAH (Asp-Glu-Ala-His) box polypeptide 33 F-LANa  carcinoma related gene MIS12 17p13.3 homolog of yeast Mis12 LOC388326 17 similar to Death effector filament-forming Ced-4-like apoptosis protein NALP1 17p13 NACHT, leucine rich repeat and PYD containing 1
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    17 splicing 5322 - 829 - 2002 12119113
  • Rabaptin 4
  • regulates recycling from early endosomes
  • 18 - 5421 - 862 - 2002 12119113
    Rabaptin 5
    - splicing - - - ubiquitous 2002 12119113
    - splicing - - - ubiquitous 2002 12119113
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Endocrinepancreas    
    Nervousbrain    
    Reproductivemale systemprostate   
    Respiratorylung    
    Urinarykidney    
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Epithelialsecretoryglandularendocrine 
    Muscularstriatumskeletal  
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    N and C terminal region containing alpha helical and heptad repeat characteristic of coiled coil domain
    HOMOLOGY
    interspecies ortholog to murine Rab5ep-pending
    Homologene
    FAMILY
    CATEGORY transport carrier
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,endosome
    intracellular,cytoplasm,cytosolic
    text
  • RABEP1, KCNH1 co-localize on large early endosomes induced by RAB5 hyperactivity
  • basic FUNCTION
  • involved in endocytic vesicle docking and fusion
  • mediating the tuberin association with RAB5A
  • plays an important role in intracellular membrane traffic acting as an effector molecule of small GTPases RAB5A and RAB4A
  • is dispensable for RAB5A-dependent processes in intact mast cells, including high affinity IgE receptor (FcepsilonRI) internalization and endosome fusion
  • importantly contributes to mast cell IgE-dependent immunologic function by enhancing mast cell receptor surface stability
  • component of intracellular vesicular transport machinery
  • effector of the RAB5 GTPase
  • role of RABEP1 in channel trafficking
  • CELLULAR PROCESS protein
    PHYSIOLOGICAL PROCESS endocytosis transport , cellular trafficking transport
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • binding to RAB5A
  • interaction between GGA1, GGA2, GGA3 and RABEP1 is likely to take place in a pathway between the trans-Golgi network and early endosomes
  • positive feedback activation of RAB5A by RABGEF1 and RABEP1 in endocytosis with a delayed onset
  • interacting with AP1G1 (to regulate membrane recycling)
  • does not physically interact, with RAB7 and RAB11
  • RABEP1 is recruited by both RABGEF1 recognizing ubiquitylated cargo and by RAB4A to activate RAB5A in a feed-forward manner
  • cell & other
    REGULATION
    activated by cleaved caspase 3 during apoptosis
    Other recruited by RAB5 to early endosomes,in a GTP dependent manner
    ASSOCIATED DISORDERS
    ANIMAL & CELL MODELS