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
Location 3p13      Physical location : 73.431.651 - 73.674.072
Synonym name
  • ortholog of mouse cytoplasmic domain associated protein 3
  • zinc finger C23-H-C4 type,ring finger
  • ligand of Numb protein X 3
  • likely ortholog of mouse semaF cytoplasmic domain associated protein 3
    • Synonym symbol(s) KIAA1095, SEMACAP3, LNX3, SEMCAP3
    DNA
    TYPE functioning gene
    STRUCTURE 242.49 kb     10 Exon(s)
    MAPPING cloned Y linked N status provisional
    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