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FLASH GENE
Symbol PDZRN3 contributors: mct - updated : 08-07-2015
HGNC name PDZ domain containing RING finger 3
HGNC id 17704
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
10 - 4244 - 1066 - 2004 15010864
8 - 3595 - 764 - 2004 15010864
8 - 3458 - 723 - 2004 15010864
8 - 3408 - 788 - 2004 15010864
8 - 3588 - 783 - 2004 15010864
EXPRESSION
Type widely
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Cardiovascularheart   highly Homo sapiens
 vessel   moderately
Digestiveliver   highly Homo sapiens
Nervousbrain   highly
Reproductivefemale systembreastmammary gland highly
 male systemtestis   
 male systemprostate  highly
Respiratoryrespiratory tractlarynx  predominantly
Visualeye   moderately
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Muscularstriatumskeletal   Homo sapiens
cell lineage
cell lines
fluid/secretion
at STAGE
physiological period fetal
Text brain, liver
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