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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
Corresponding disease
NBIA7 neurodegeneration with brain iron accumulation 7
Location 6q24.1      Physical location : 139.225.620 - 139.309.398
Synonym name
  • Ral Interacting Protein
  • Synonym symbol(s) RALBP1
    DNA
    TYPE functioning gene
    STRUCTURE 84.27 kb     19 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    Physical map
    IL20RA 6q23.3 interleukin 20 receptor, alpha IL22RA2 6q24-q25.1 interleukin 22 receptor, alpha 2 IFNGR1 6q23-q24 interferon gamma receptor 1 OLIG3 6q23.3 oligodendrocyte transcription factor 3 LOC391974 6 similar to RIKEN cDNA 5730434I03 gene LOC134897 6q23.3 similar to protein tyrosine phosphatase TNFAIP3 6q23-q25 tumor necrosis factor, alpha-induced protein 3 PERP 6q24 PERP, TP53 apoptosis effector PBOV1 6q23-q24 prostate and breast cancer overexpressed 1 KIAA1244 6q23.3 KIAA1244 HEBP2 6q24 heme binding protein 2 KIAA1357 6q23.3 KIAA1357 protein LOC389430 6 LOC389430 C6orf80 6q23.1-q24.1 chromosome 6 open reading frame 80 CCRL1P 6q23.3 chemokine (C-C motif) receptor-like 1 pseudogene LOC345930 6q23.3 similar to Ect2 protein REPS1 6q23.1-24.1 RALBP1 associated Eps domain containing 1 C6orf115 6q24.1 chromosome 6 open reading frame 115 HECA 6q23-q24 headcase homolog (Drosophila) C6orf198 6q23.3 chromosome 6 open reading frame 198 CITED2 6q23.3 Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2 LOC340148 6q23.3 hypothetical LOC340148 LOC391975 6 similar to ATP synthase B chain, mitochondrial precursor
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    19 - 3955 - 769 - 2001 11750063
    20 - 3548 - 795 - 2001 11750063
    17 - 3763 - 705 - 2001 11750063
    20 - 4036 - 796 - 2001 11750063
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    blood / hematopoieticspleen    
    Cardiovascularheart   highly
    Nervousbraindiencephalon   
    Reproductivefemale systembreast   
     male systemtestis  highly
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    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