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FLASH GENE
Symbol DUOXA1 contributors: mct - updated : 01-04-2020
HGNC name dual oxidase maturation factor 1
HGNC id 26507
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
- - 1923 53 483 - Grasberger
- - 1044 - 353 - Grasberger
EXPRESSION
Type
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Digestiveesophagus    
Endocrinethyroid    
Respiratoryrespiratory tract     Homo sapiens
cells
SystemCellPubmedSpeciesStageRna symbol
Respiratoryepithelial cell Homo sapiens
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • a Kozak consensus domain
  • five membrane integral region
  • three NX (S/T) consensus site for N glycosylation clustered within an external connecting the second and third transmembrane helices
  • conjugated GlycoP
    HOMOLOGY
    interspecies homolog to Drosophila numb
    Homologene
    FAMILY
  • NADPH oxydase family
  • DUOXA family
  • CATEGORY chaperone/stress
    SUBCELLULAR LOCALIZATION intracellular,cytoplasm,organelle,endoplasmic reticulum
    text ER-resident transmembrane protein
    basic FUNCTION
  • allowing ER-to-Golgi transition, maturation, and translocation to the plasma membrane of functional DUOX2 in a heterologous system
  • role for the cysteine residues in intermolecular disulfide bond formation with the DUOX maturation factor DUOXA1
  • both DUOX enzymes (DUOX1, DUOX2) and their respective maturation factors DUOXA1 and DUOXA2 form a stable complex at the cell surface, which is fundamental for their enzymatic activity
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • an intermolecular disulfide bridge rather than an intramolecular disulfide bridge is important for both the trafficking and H2O2-generating activity of the DUOX1-DUOXA1 complex
  • DUOX1 dimerization is required for stability to achieve the correct structure or interaction with its maturation factor, DUOXA1
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • DUOX1
  • direct interaction of DUOX1 and its DUOXA1 maturation factor occurs through contact of cysteine residue(s) in their extracellular domains
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) HTDI3
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS