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FLASH GENE
Symbol REPS1 contributors: mct - updated : 24-05-2017
HGNC name RALBP1 associated Eps domain containing 1
HGNC id 15578
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • two calcium-binding EF-hand motifs
  • an Eps homology (EH) domain, which was first detected in the epidermal growth factor (EGF) receptor substrate EPS15
  • HOMOLOGY
    interspecies homolog to murine reps1
    Homologene
    FAMILY
    CATEGORY signaling
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,cytosolic
    text
  • both REPS1 and SGIP1 colocalize with ITSN1 in clathrin-coated pits
  • basic FUNCTION
  • having calcium ion binding activity
  • has the capacity to form a complex with the SH3 domains of the adapter proteins CRK and GRB2, which may link REPS1 to an EGF-responsive tyrosine kinase
  • may coordinate the cellular actions of activated EGF receptors and Ral-GTPases
  • engaged in EGFR signaling and undergoes phosphorylation upon EGF stimulation
  • conserved EH domain-containing protein primarily associated with endocytosis and vesicle transport
  • REPS1, and RALBP1 are present early during embryonic development, but they are active only at the end of gastrulation
  • later in development, REPS1 is required for the normal function of the ectodermic cell, and its targeting into the plasma membrane affects the stability of the ectoderm
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • RAB11FIP2 contains an NPF motif that allows it to bind REPS1, a member of a family of EH domain proteins involved in endocytosis
  • SGIP1 and the signaling adaptor REPS1 interact with ITSN1
  • REPS1, an endocytic adaptor localized in clathrin-coated pits, interacts with endocytic scaffold intersectin 1 (ITSN1), a key protein in clathrin-mediated endocytosis
  • RALBP1, an effector of Ral involved in receptor-mediated endocytosis and in the regulation of actin dynamics during embryonic development, also interacts with REPS1
  • NUMB interactions with REPS1, BMP2K, and BCR
  • cell & other
    REGULATION
    Other tyrosine-phosphorylated in response to EGF stimulation of cells
    ASSOCIATED DISORDERS
    corresponding disease(s) NBIA7
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS