Target intelligence / Profile preview

Deleted in azoospermia protein 1 (DAZ1)

Target
DAZ1
Molecular classification
RNA-binding protein, Developmental protein (as per UniProt), Other (not enzyme, receptor, ion channel, transporter)
01

Overview

Deleted in azoospermia protein 1 (DAZ1) is an RNA-binding protein essential for human spermatogenesis, encoded by a gene found only on the Y chromosome[1][8]. DAZ1 is part of the DAZ gene family and contains RNA recognition motif (RRM) domains and DAZ repeats, which mediate its ability to bind to the 3'-UTR of target mRNAs and regulate their translation[1][3][4][5][8]. DAZ1 expression is restricted to premeiotic germ cells, particularly spermatogonia, where it promotes their progression into meiosis and the formation of haploid germ cells[1][4]. Its function is critical for cell proliferation and cell cycle progression in male germ cells through translational regulation of specific mRNAs, interacting with translation regulators such as PABPC1[1][3][4]. Loss or deletion of DAZ1—the typical result of AZFc region deletions on the Y chromosome—causes impaired spermatogenesis and is a major genetic contributor to spermatogenic failure and male infertility[1][4]. DAZ1 does not act as an enzyme, receptor, ion channel, transporter, or transcription factor, but as an RNA-binding protein necessary for proper development of male germ cells[1][4][7][8].

Other names
DAZ1DAZDeleted in azoospermia protein 1SPGYTesticular tissue protein Li 49DAZ gene family member
02

Mechanism of action

Not applicable No drugs target DAZ1 directly, so there is no known drug mechanism of action involving DAZ1

03

Biological functions

Regulation of mRNA translation (especially in germ cells/spermatogonia)Promotes germ-cell progression to meiosis and formation of haploid germ cellsMaintains spermatogonia proliferationRegulates translation of cell proliferation and cell cycle phase transition-related mRNAs
04

Disease associations

Male infertility (especially Y-linked azoospermia, spermatogenic failure)Chromosome Y microdeletion syndromeOther reproductive disorders associated with AZFc deletion
05

Biomarkers

DAZ1 deletion/mutation status is used as a genetic biomarker in the diagnosis of male infertility and Y chromosome microdeletion syndromes

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