Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
FLASH GENE
Symbol DUOXA1 contributors: mct - updated : 01-04-2020
HGNC name dual oxidase maturation factor 1
HGNC id 26507
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