Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
FLASH GENE
Symbol PDZRN3 contributors: mct - updated : 08-07-2015
HGNC name PDZ domain containing RING finger 3
HGNC id 17704
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • zinc finger C23-H-C4 type
  • a RING-finger motif in its N-terminal region
  • two PDZ domains in its central region
  • a TRAF-type zinc finger
  • two bipartite nuclear localization signals (NLS) were located within the C-terminal region, and a consensus-binding motif for PDZ domains at its C-terminus
  • HOMOLOGY
    interspecies ortholog to murine Pdzrn3
    intraspecies homolog to LNX and PDZRN1
    Homologene
    FAMILY
  • PDZ domain-containing RING finger family of proteins
  • CATEGORY enzyme , transcription factor
    SUBCELLULAR LOCALIZATION     plasma membrane,junction
    basic FUNCTION
  • acting as an ubiquitin-protein ligase
  • plays an essential role in the differentiation of myoblasts into myotubes by acting either downstream or independently of myogenin
  • adaptor of neurotrophin receptors playing crucial roles during neurogenesis
  • essential for the differentiation of mesenchymal stem cells into myotubes, but it plays an inhibitory role in the differentiation of these cells into osteoblasts
  • key role of PDZRN3 in endothelial cell directional and coordinated extension
  • CELLULAR PROCESS nucleotide, transcription
    protein, ubiquitin dependent proteolysis
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule metal binding,
  • Zn2+
  • protein
  • NLGN1
  • EFNB2
  • PDZRN3 binds to MUSK and promotes its ubiquitination
  • negatively regulates BMP2-induced osteoblast differentiation through inhibition of Wnt signaling
  • interacts with KIDINS220/ARMS through its first PDZ-domain
  • STAT5B, but not STAT5A, was upregulated in PDZRN3-depleted cells at both mRNA and protein levels
  • PDZRN3 ubiquitinates Dishevelled 3 (DVL3), to promote endocytosis of the Frizzled/DVL3 complex, for planar cell polarity (PCP) signal transduction
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional       loss of function
    impairs embryonic angiogenic remodelling and postnatal retinal vascular patterning, with a loss of two-dimensional polarized orientation of the intermediate retinal plexus
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • overexpression of Pdzrn3 in skeletal muscle of transgenic mice perturbs the growth and maturation of the neuromuscular junction