InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: DAZ1

Summary

InnateDB Protein

IDBP-292431.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

DAZ1

Protein Name

deleted in azoospermia 1

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000384573

InnateDB Gene

IDBG-601 (DAZ1)

Protein Structure

UniProt Annotation

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. {ECO:0000269PubMed:19865085}.

Subcellular Localization

Cytoplasm {ECO:0000269PubMed:11058556}. Nucleus {ECO:0000269PubMed:11058556}. Note=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.

Disease Associations

Spermatogenic failure Y-linked 2 (SPGFY2) [MIM:415000]: A disorder resulting in the absence (azoospermia) or reduction (oligozoospermia) of sperm in the semen, leading to male infertility. {ECO:0000269PubMed:11095434, ECO:0000269PubMed:11870237, ECO:0000269PubMed:12801575}. Note=The disease may be caused by mutations 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.

Tissue Specificity

Testis-specific. Expression restricted to premeiotic germ cells, particularly in spermatogonia (at protein level). {ECO:0000269PubMed:10936047, ECO:0000269PubMed:18385127, ECO:0000269PubMed:19223287}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 14 experimentally validated interaction(s) in this database.

Experimentally validated
Total	14 [view]
Protein-Protein	14 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0000166	nucleotide binding
GO:0003676	nucleic acid binding
GO:0003723	RNA binding
GO:0005515	protein binding
GO:0008494	translation activator activity

Biological Process

GO:0007275	multicellular organismal development
GO:0007283	spermatogenesis
GO:0030154	cell differentiation
GO:0045948	positive regulation of translational initiation