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FLASH GENE
Symbol PRRG4 contributors: mct - updated : 11-12-2014
HGNC name proline rich Gla (G-carboxyglutamic acid) 4 (transmembrane)
HGNC id 30799
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • a gamma-carboxy-glutamate domain (Gla) domain, extracellular gamma-carboxyglutamic acid (Gla) protein domain
  • nine potential Gla residues (Gla residues are produced after subsequent posttranslational modifications of glutamate by a vitamin K-dependent gamma- carboxylase)
  • membrane-spanning hydrophobic regions
  • cytoplasmic C- terminal regions containing PPXY motifs
  • cytosolic WW binding motifs, essential for these newly found protein-protein interactions, and SH3 binding motifs, with a A PPXY WW domain binding motif present in the PRRG4 sequence at AAs 204–207
  • HOMOLOGY
    interspecies ortholog to murine Prrg4
    Homologene
    FAMILY
    CATEGORY signaling
    SUBCELLULAR LOCALIZATION     plasma membrane
    text type I membrane protein
    basic FUNCTION unknown
    CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule metal binding,
    Ca2+
    protein
  • MAGI1, -2, and -3 all contain WW domains and were confirmed as PRRG4-binding proteins
  • PRRG4-initiated signaling events most likely depend on proteins with WW domains
  • YAP1-PRRG4 interaction
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility to autism spectrum disorder
    Variant & Polymorphism
    Candidate gene
  • haploinsufficiencies of PRRG4 is a candidate genes for severe developmental delay and autistic features characteristic of WAGR syndrome
  • Marker
    Therapy target
    ANIMAL & CELL MODELS