DAZ1
Description
The DAZ1 (deleted in azoospermia 1) is a protein-coding gene located on chromosome Y.
DAZ1, or Deleted in azoospermia 1, is a protein encoded by the DAZ1 gene. It belongs to the DAZ gene family and is a potential candidate for the human Y-chromosomal azoospermia factor (AZF). DAZ1 is expressed solely in pre-meiotic germ cells, especially spermatogonia. It functions as an RNA-binding protein vital for spermatogenesis. Four copies of the DAZ1 gene reside on chromosome Y within palindromic duplications; one gene pair is part of the P2 palindrome, and the other pair belongs to the P1 palindrome. Each gene contains a 2.4 kb repeat, including a 72-bp exon known as the DAZ repeat. The number of DAZ repeats varies, and there are multiple variations in the DAZ repeat sequence. Additionally, each gene copy includes a 10.8 kb region that can be amplified, containing five exons encoding an RNA recognition motif (RRM) domain. DAZ1 has three copies of this 10.8 kb repeat. However, transcripts with three copies of the RRM domain have not been identified, leading to the RefSeq for this gene containing only two RRM domains. DAZ1 has been shown to interact with DAZAP2, DAZL, and DAZ-associated protein 1.
DAZ1 is an RNA-binding protein crucial for spermatogenesis. It likely regulates translation by binding to the 3'-UTR of mRNAs. This protein facilitates germ cell progression into meiosis and the formation of haploid germ cells.
DAZ1 is also known as DAZ, SPGY.
