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FLASH GENE
Symbol DAZ1 contributors: mct/npt - updated : 01-09-2008
HGNC name deleted in azoospermia 1
HGNC id 2682
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • three RRM (RNA recognition motif)
  • RNA binding protein
  • nine 24 AA repeats of distinct forms (DAZ repeat)
  • HOMOLOGY
    Homologene
    FAMILY
  • RRM DAZ family
  • CATEGORY RNA associated
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm
    intracellular,nucleus
    text predominantly cytoplasmic, but also nuclear at some stages of spermatozoide development
    basic FUNCTION
  • germ-cell specific RNA-binding protein, involved in generation and maitenance of spermatogonial stem cell population
  • PABP-binding protein that regulate translation in germ cells (Collier 2005)
  • promote later stages of meiosis and development of haploid gametes (Kee 2009)
  • required to achieve the highest level of synaptonemal complex formation (Kee 2009)
  • CELLULAR PROCESS cell life, differentiation
    PHYSIOLOGICAL PROCESS reproduction/sex
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA binding tot he 3'UTR and regulating their translation
    small molecule
    protein
  • binding DAZAP1, DAZAP2 and/or PUM2
  • heterodimerizing with BOLL and DAZL
  • cannot bind simultaneously to DAZAP1 and PABP, and the phosphorylation-induced dissociation of DAZ and DAZAP1 may allow the former to stimulate translation by interacting with PABP
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional   deletion    
    in azoospermia with variable testicular defects
    Susceptibility to male infertility
    Variant & Polymorphism other Gr/Gr associated with male infertility
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS