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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
    Physical map
    LOC388908 22 similar to chromosome 22 open reading frame 1; adult brain protein 239 FLJ23588 22q13.1-q13.33 CAP-binding protein complex interacting protein 1 YWHAQP2 22q12-qter YWHAQ pseudogene 2 HMG17L1 22q13.31 high-mobility group (nonhistone chromosomal) protein 17-like 1 SULT4A1 22q13.2-q13.31 sulfotransferase family 4A, member 1 LOC150379 22q13.31 GS2 like C22orf20 22q13.31 chromosome 22 open reading frame 20 CGI-51 22q13.31 CGI-51 protein PARVB 22q13.2-q13.33 parvin, beta TRSPP1 22q11 tRNA phosphoserine (opal suppressor) pseudogene 1 PARVG 22q13.2-q13 parvin, gamma LOC388909 22 LOC388909 MRPS18CP6 22q13.31 mitochondrial ribosomal protein S18C pseudogene 6 DKFZp761O17121 22q13.31 hypothetical protein DKFZp761O17121 LOC129186 22q13.31 similar to Keratin, type I cytoskeletal 18 (Cytokeratin 18) (K18) (CK 18) LOC388910 22 LOC388910 ARHGAP8 22q13.31 Rho GTPase activating protein 8 LOC112885 22q13.31 hypothetical protein BC012187 NUP50 22q13.31 nucleoporin 50kDa KIAA0930 22q13.31 nucleoporin 50kDa UPK3A 22q13.31 uroplakin 3A FLJ20635 22q13 hypothetical protein FLJ20635 SMC1L2 22q13.31 SMC1 structural maintenance of chromosomes 1-like 2 (yeast) DKFZP566F0546 22q13.31 DKFZP566F0546 protein FBLN1 22q13.31 fibulin 1 LOC388911 22 LOC388911 E46L 22q13.31 LOC388911 LOC388912 22 LOC388912 FLJ10945 22q13.31 hypothetical protein FLJ10945 LOC388913 22 similar to seroreactive antigen BMN1-2 LOC150381 22q13.31 hypothetical protein LOC150381 PPARA 22q13.3 peroxisome proliferative activated receptor, alpha MGC2452 22q13.31 hypothetical protein MGC2452 LOC150383 22q13.31 similar to RIKEN cDNA 2210021J22 PKDREJ 22q13.32 polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly homolog, sea urchin)-like FLJ20699 22q13 hypothetical protein FLJ20699 GTSE1 22q13.2-q13.3 G-2 and S-phase expressed 1 FLJ10140 22q13 hypothetical protein FLJ10140 CELSR1 22q13.32 cadherin, EGF LAG seven-pass G-type receptor 1 (flamingo homolog, Drosophila) KIAA0767 22q13.31 cadherin, EGF LAG seven-pass G-type receptor 1 (flamingo homolog, Drosophila) CERK 22q13.31 ceramide kinase C22orf4 22q13.3 chromosome 22 open reading frame 4
    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