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FLASH GENE
Symbol RBSN contributors: mct - updated : 14-09-2017
HGNC name rabenosyn, RAB effector
HGNC id 20759
Corresponding disease
RBSND rabenosyn-5 deficincy
Location 3p25.1      Physical location : -
Synonym name
  • FYVE finger-containing Rab5 effector protein rabenosyn-5
  • zinc finger, FYVE domain containing 20
  • Synonym symbol(s) Rabenosyn-5, FLJ34993, ZFYVE20, MGC126210
    DNA
    TYPE functioning gene
    STRUCTURE 29.09 kb     14 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    14 - 6678 88.9 784 - 2005 16034420
    13 - 6540 - 784 - 2005 16034420
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart   moderately
    Nervousbrain   moderately
    Reproductivemale systemprostate  moderately
    Respiratorylung   moderately
    Urinarykidney   moderately
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscularstriatumskeletal  
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • EEA1 and Rabenosyn-5 contain a distinctive N-terminal C(2)H(2) zinc finger that binds RAB5
  • a FYVE finger domain
  • a novel sequence required for its interaction with VPS45
  • HOMOLOGY
    interspecies homolog to Drosophila CG8506
    homolog to yeast S.cerevisiae Vac1p
    homolog to murine Zfyve20
    Homologene
    FAMILY
    CATEGORY adaptor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endosome
    intracellular,cytoplasm,cytosolic,vesicle
    basic FUNCTION
  • acting sequentially with EHD1 in the transport of proteins from early endosomes to the endosomal recycling compartement and back to the plasma membrane
  • serving as a molecular link between VPS45 and the Rab5 GTPase
  • ZFYVE20 and EHD1 may act sequentially in the transport of proteins from early endosomes to the endosomal recycling compartment and back to the plasma membrane
  • RBSN is a RAB5 effector that bridges an interaction between Rab5 and the Sec1/Munc18-family protein VPS45
  • VPS45 interacts with ZFYVE20 and carries out multiple functions in the endocytic/secretory pathways
  • VPS45 and ZFYVE20 are implicated in post early endosome transport, and their interaction potentially serves as a nexus to promote bidirectional transport along the endosome-to-recycling compartment and endosome-to-Golgi axes
  • EEA1 and ZFYVE20 facilitate endosome tethering, sorting, and fusion
  • regulates endocytosis at the apical side of the wing epithelium and, surprisingly, further uncovered a novel function of this protein in planar cell polarity (PCP)
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS cellular trafficking transport
    text endosome transport
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule metal binding,
    ions Zn2+ binding
    protein
  • interacting with RAB5
  • VPS45 interacts with RBSN and carries out multiple functions in the endocytic/secretory pathways
  • interaction between EEA1 and Rabenosyn-5 (RBSN), which facilitate endosome tethering, sorting, and fusion
  • critical role for RBSN in determining the fate of TFRC internalized by clathrin-mediated endocytosis
  • cell & other
    REGULATION
    Other recruited in a phosphatidylinositol-3-kinase-dependent fashion to early endosomes
    MAPK14 can phosphorylate the RAB5 effectors EEA1 and ZFYVE20 on Thr-1392 and Ser-215, respectively, and these phosphorylation events regulate the recruitment of EEA1 and ZFYVE20 to membranes
    ASSOCIATED DISORDERS
    corresponding disease(s) RBSND
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS