DAZ1

This gene is a member of the DAZ gene family and is a candidate for the human Y-chromosomal azoospermia factor (AZF). Its expression is restricted to premeiotic germ cells, particularly in spermatogonia. It encodes an RNA-binding protein that is important for spermatogenesis. Four copies of this gene are found on chromosome Y within palindromic duplications; one pair of genes is part of the P2 palindrome and the second pair is part of the P1 palindrome. Each gene contains a 2.4 kb repeat including a 72-bp exon, called the DAZ repeat; the number of DAZ repeats is variable and there are several variations in the sequence of the DAZ repeat. Each copy of the gene also contains a 10.8 kb region that may be amplified; this region includes five exons that encode an RNA recognition motif (RRM) domain. This gene contains three copies of the 10.8 kb repeat. However, no transcripts containing three copies of the RRM domain have been described; thus the RefSeq] for this gene contains only two RRM domains. [provided by RefSeq]

Full Name

deleted in azoospermia 1

Function

RNA-binding protein that plays an essential role in spermatogenesis. May act by binding to the 3'-UTR of mRNAs and regulating their translation. Promotes germ-cell progression to meiosis and formation of haploid germ cells.

Biological Process

3'-UTR-mediated mRNA stabilization Source: GO_Central
Cell differentiation Source: UniProtKB-KW
Multicellular organism development Source: UniProtKB-KW
Positive regulation of translational initiation Source: UniProtKB
Spermatogenesis Source: UniProtKB-KW

Cellular Location

Nucleus; Cytoplasm. Predominantly cytoplasmic. Nuclear at some stages of spermatozoide development. Localizes both to the nuclei and cytoplasm of spermatozoide differentiation. Nuclear in fetal gonocytes and in spermatogonial nuclei. It then relocates to the cytoplasm during male meiosis.

Involvement in disease

Spermatogenic failure Y-linked 2 (SPGFY2):
The disease may be caused by variants affecting the gene represented in this entry. AZFc deletions in the Yq11.23 region including the DAZ genes are the most common known genetic cause of human male infertility. A disorder resulting in the absence (azoospermia) or reduction (oligozoospermia) of sperm in the semen, leading to male infertility.