deleted in azoospermia protein 3 (DAZ3)

Function

• RNA-binding protein
• role in spermatogenesis
• binds to 3'UTR of mRNAs & regulates their translation
• forms a heterodimer with BOLL & DAZL
• interacts with PUM2, DAZAP1, DAZAP2, DZIP1 & DZIP3

Structure

• belongs to the RNP DAZ family
• contains 12 DAZ-like domains
  • DAZ-like repeats are essential & mediate interaction with DAZAP1 & DAZAP2
• contains 1 RRM domains (RNA recognition motif domains)

Compartment

• cytoplasm, nucleus
• predominantly cytoplasmic
• nuclear at some stages of spermatozoide development
• localizes both to nuclei & cytoplasm of spermatozoide
• nuclear in fetal gonocytes & in spermatogonia
• relocates to the cytoplasm during male meiosis

Expression

testis specific

Pathology

• AZFc deletions in the Yq11.23 region, including the DAZ genes, are a cause of azoospermia or oligospermia

Polymorphism

• number as well as the precise structure of DAZ proteins differs within population

More general terms

• DAZ protein (deleted in azoospermia protein)

Database

• OMIM: https://mirror.omim.org/entry/400027
• OMIM: https://mirror.omim.org/entry/415000
• UniProt: http://www.uniprot.org/uniprot/Q9NR90.html