background:
In mammals, the Y chromosome directs the development of the testes and plays an important role in spermatogenesis. A high percentage of infertile men have deletions that map to regions of the Y chromosome. The DAZ (deleted in azoospermia) gene cluster maps to the AZFc region of the Y chromosome and is deleted in many azoospermic and severely oligospermic men. It is thought that the DAZ gene cluster arose from the transposition, amplification, and pruning of the ancestral autosomal gene DAZL also involved in germ cell development and gametogenesis. This gene encodes a RNA-binding protein with two RNP motifs that was originally identified by its interaction with the infertility factors DAZ and DAZL. Two isoforms are encoded by transcript variants of this gene. [provided by RefSeq, Jul 2008]
Function:
RNA-binding protein, which may be required during spermatogenesis.
Subcellular Location:
Cytoplasm. Nucleus. Predominantly cytoplasmic (By similarity). Nuclear at some stages of spermatozoides development. In midpachytene spermatocytes, it is localized in both the cytoplasm and the nuclei and is clearly excluded from the sex vesicles. In round spermatids, it localizes mainly in the nuclei, whereas in elongated spermatids, it localizes to the cytoplasm.
Tissue Specificity:
Mainly expressed in testis. Expressed to a lower level in thymus. Weakly or not expressed in heart, liver, brain, placenta, lung, skeletal muscle, kidney and pancreas.
Post-translational modifications:
Phosphorylated upon DNA damage, probably by ATM or ATR.
Similarity:
Contains 2 RRM (RNA recognition motif) domains.
Database links:
Entrez Gene: 26528 Human
Entrez Gene: 427266 Chicken
Entrez Gene: 614783 Cow
Entrez Gene: 100683271 Dog
Entrez Gene: 70248 Mouse
Entrez Gene: 100433715 Orangutan
Entrez Gene: 100625005 Pig
Entrez Gene: 362836 Rat
Entrez Gene: 707132 Rhesus monkey
Entrez Gene: 398218 Xenopus laevis
Entrez Gene: 441686 Xenopus tropicalis
Omim: 607430 Human
SwissProt: Q96EP5 Human
SwissProt: Q9JII5 Mouse
SwissProt: Q98SJ2 Xenopus laevis
Unigene: 222510 Human
Unigene: 148693 Mouse
Unigene: 16769 Rat
Unigene: 1666 Xenopus laevis
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
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