Homo sapiens Protein: DAZ4
Summary
InnateDB Protein IDBP-363985.5
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol DAZ4
Protein Name deleted in azoospermia 4
Synonyms
Species Homo sapiens
Ensembl Protein ENSP00000401363
InnateDB Gene IDBG-841 (DAZ4)
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. 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 1 experimentally validated interaction(s) in this database.
Experimentally validated
Total 1 [view]
Protein-Protein 1 [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
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 Q86SG3
PhosphoSite PhosphoSite-Q86SG3
TrEMBL Q6S4N0
UniProt Splice Variant
Entrez Gene 57135
UniGene Hs.732961
RefSeq
HUGO HGNC:15966
OMIM 400026
CCDS
HPRD 13117
IMGT
EMBL AC006338 AC006982 AC010089 AF248482 AF248483 AY466627 AY466628 AY466629 AY466630 AY547293 BC047480 BC047617
GenPept AAF91331 AAF91332 AAH47480 AAH47617 AAR31726 AAR31727 AAR31728 AAR31729 AAS55959