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FLASH GENE
Symbol FXYD5 contributors: mct - updated : 01-09-2021
HGNC name FXYD domain containing ion transport regulator 5
HGNC id 4029
Location 19q13.12      Physical location : 35.645.624 - 35.660.787
Synonym name
  • dysadherin
  • keratinocytes associated transmembrane protein 1
  • Synonym symbol(s) RIC, IWU1, DYSAD, HSPC113, FXY5, KCT1, OIT2, OIT2, PRO6241
    DNA
    TYPE functioning gene
    STRUCTURE 15.15 kb     9 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
    9 - 1101 - 178 - 2019 31434988
    9 - 938 - 178 - 2019 31434988
    9 - 981 - 194 - 2019 31434988
    9 - 878 - 178 - 2019 31434988
    8 - 785 - 147 - 2019 31434988
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Urinarykidneytubule    Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a signal peptide
  • a core motif of 35 invariant conserved amino-acid centered on a single transmembrane span
  • 0-glycosylated extracellular domain (Ser-Thr-Pro rich domain)
  • short cytoplasmic tail
  • conjugated GlycoP
    HOMOLOGY
    interspecies homolog to murine Ric
    Homologene
    FAMILY FXYD family
    CATEGORY regulatory , protooncogene
    SUBCELLULAR LOCALIZATION     plasma membrane
    basic FUNCTION
  • involved in tumor progression and metastasis
  • might contribute to breast cancer progression through AKT1 activation
  • likely FXYD5 affects cell polarization through its transmembrane domain interaction with the Na(+)-K(+)-ATPase
  • FXYD5 modulates cellular junctions, influences chemokine production, and affects cell adhesion
  • is a key contributor to inflammatory lung injury
  • CELLULAR PROCESS cell organization/biogenesis
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • with CDH1, E-cadherin (down-regulation of E-cadherin)
  • with actin (role in microvilli formation)
  • FXYD5 interacts with the alphabeta-subunits of the Na(+)-K(+)-ATPase and increases its V(max)
  • FXYD5 is a novel substrate of MMP8 and reducing FXYD5 levels either with siRNA or cleavage by MMP8 increases cell adhesion leading to reduced motility
  • cell & other
    REGULATION
    induced by by the oncoprotein E2a-Pbx1
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
  • prognostic factor in OTSCC
  • Therapy target
    SystemTypeDisorderPubmed
    cancerdigestive 
    potential therapeutic target in oral tongue squamous cell carcinoma (OTSCC)
    ANIMAL & CELL MODELS