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FLASH GENE
Symbol DENND1A contributors: mct - updated : 16-06-2017
HGNC name DENN/MADD domain containing 1A
HGNC id 29324
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • an N-terminal DENN (differentially expressed in neoplastic versus normal cells) domain, a poorly characterized protein module found in multiple proteins of unrelated function
  • multiple Src homology 3 (SH3) domain-binding motifs
  • a C-terminal peptide motif domain harboring three distinct motifs for binding the alpha-ear of the clathrin adaptor protein 2 (AP-2)
    • conjugated PhosphoP
    HOMOLOGY
    interspecies ortholog to murine Dennd1a
    Homologene
    FAMILY
    CATEGORY regulatory , unknown/unspecified
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm
    text
  • localize to clathrin patches at the plasma membrane
    • basic FUNCTION
  • DENN domain-containing protein of neuronal clathrin-coated vesicles functioning in synaptic vesicle endocytosis
  • functions on the endocytic limb of the synaptic vesicle cycle
  • functions as a guanine nucleotide exchange factor (GEF) for RAB35 to regulate endosomal membrane trafficking
  • activate RAB35 in an endocytic pathway trafficking Shiga toxin to the trans-Golgi network
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • component of the endocytic machinery functioning in synaptic vesicle endocytosis, providing the first evidence of a role for a DENN domain-containing protein in endocytosis
    • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • whereas DENND1A and DENND1B activate RAB35 for endosomal trafficking, DENND1C uniquely activates RAB35 for its role in actin regulation
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility
  • to Polycystic ovary syndrome (PCOS)
  • to endometrioid adenocarcinoma
    • Variant & Polymorphism SNP
  • associated with Polycystic ovary syndrome (PCOS)
  • SNPs rs2479106 in gene DENND1A are associated with endometrioid adenocarcinoma
    • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS