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FLASH GENE
Symbol UPK3A contributors: mct - updated : 12-03-2014
HGNC name uroplakin 3A
HGNC id 12580
Corresponding disease
RADP4 renal adysplasia 4
Location 22q13.31      Physical location : 45.680.867 - 45.691.754
Synonym name
  • uroplakin 3
  • uroplakin III
  • Synonym symbol(s) UPK3, MGC119178, UPIII, UPIIIA, UP3A
    DNA
    TYPE functioning gene
    STRUCTURE 10.89 kb     6 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    6 - 1056 - 287 - 2002 12475947
    4 - 693 - 166 - 2002 12475947
    EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Urinaryureter   highly Homo sapiens
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Epithelialbarrier/lininguroepithelium highly Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period embryo
    Text nascent uroepithelial cells in the ureter, renal pelvis and bladder (Jenkins 2005)
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    conjugated GlycoP
    mono polymer heteromer , dimer
    isoforms Precursor
    HOMOLOGY
    interspecies homolog to murine Upk3a (84.3pc)
    homolog to rattus Upk3a (84.9pc)
    Homologene
    FAMILY
  • uroplakin-3 family
  • CATEGORY adaptor , structural protein
    SUBCELLULAR LOCALIZATION extracellular
        plasma membrane
        intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    intracellular,cytoplasm,cytosolic,vesicle
    text urothelium-specific transmembrane protein; type I membrane protein
    basic FUNCTION
  • playing a role in AUM-cytoskeleton interaction in terminally differentiated urothelial cells
  • contributing to the formation of urothelial glycocalyx which may play a role in preventing bacterial adherence
  • plays a pivotal role in urinary tract infection pathogenesis as its induction during urothelial differentiation sensitizes cells to uropathogenic E.Coli-induced death
  • undergoes phosphorylation in response to bacteria and mediates bladder response to infection
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS development
    text kidney development
    PATHWAY
    metabolism
    signaling
    a component
  • component of the asymetric unit membrane (aum), a highly specialized biomembrane elabored by terminally differentiated urothlial cells
  • heterodimerizing with UPK1B, which is a prerequisite to exit out of the endoplasmic reticulum
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) RADP4
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral        
    loss of UPK3A expression is associated with marker of aggressive bladder cancer such as lymphovascular invasion, pathologic stage and grade
    Susceptibility
    Variant & Polymorphism
    Candidate gene
  • mutation in the UPK3A gene may result in functional obstruction to fetal urine flow, leading to pertubed kidney development
  • potentially pathogenic mutation in patient with renal hypodysplasia
  • Marker
  • up-regulation of mRNA levels in vesicoureteral reflux patients is a potential application as a screening test for vesicoureteral reflux
  • from the diagnostic viewpoint, UPK3-delta4 is a potential marker for identifying nonulcerative interstitial cystitis
  • urine measurement of UPK3A is a sensitive marker for the detection of bladder cancer
  • Therapy target
  • gene therapy viral vectors driven by the uroplakin promoter would drive therapeutic gene expression in high-UPK3A-expressing transitional cell carcinoma (TCC) cells but not in aggressive low-UPK3A-expressing TCC cells
  • ANIMAL & CELL MODELS