Version 5.4
Homo sapiens Protein: DAZ3
Summary
InnateDB Protein IDBP-793.7
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol DAZ3
Protein Name deleted in azoospermia 3
Synonyms
Species Homo sapiens
Ensembl Protein ENSP00000371802
InnateDB Gene IDBG-791 (DAZ3)
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.
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: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. {ECO:0000269PubMed:10936047}.
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
Gene Ontology

Molecular Function
Accession GO Term
GO:0000166 nucleotide binding
GO:0003676 nucleic acid binding
GO:0003723 RNA binding
Biological Process
GO:0007275 multicellular organismal development
GO:0007283 spermatogenesis
GO:0030154 cell differentiation
Cellular Component
GO:0005634 nucleus
GO:0005737 cytoplasm
Protein Structure and Domains
PDB ID
InterPro IPR000504 RNA recognition motif domain
PFAM PF00076
PRINTS
PIRSF
SMART SM00360
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q9NR90
PhosphoSite PhosphoSite-Q9NR90
TrEMBL Q6S4N0
UniProt Splice Variant
Entrez Gene 57135
UniGene Hs.732961
RefSeq XP_005262663
HUGO HGNC:15965
OMIM 400027
CCDS CCDS35489
HPRD 15959
IMGT
EMBL AC006338 AF248481 AY466627 AY466628 AY466629 AY466630 AY547293 BC113005
GenPept AAF91330 AAI13006 AAR31726 AAR31727 AAR31728 AAR31729 AAS55959

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

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Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca