Version 5.4
Homo sapiens Gene: DAZ3
Summary
InnateDB Gene IDBG-791.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol DAZ3
Gene Name deleted in azoospermia 3
Synonyms
Species Homo sapiens
Ensembl Gene ENSG00000187191
Encoded Proteins
IDBP-793
deleted in azoospermia 3
IDBP-795
deleted in azoospermia 3
IDBP-363875
deleted in azoospermia 3
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary 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 one copy of the 10.8 kb repeat. [provided by RefSeq, Jul 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome Y:24763069-24813492
Strand Reverse strand
Band q11.23
Transcripts
ENST00000382365 ENSP00000371802
ENST00000315357 ENSP00000324965
ENST00000446723 ENSP00000401049
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
Orthologs
No orthologs found for this gene
Cross-References
SwissProt
TrEMBL E7ERQ6 Q6S4N0
UniProt Splice Variant
Entrez Gene 57135
UniGene Hs.600914 Hs.732961
RefSeq XM_006709927 XM_005262606
HUGO HGNC:15965
OMIM 400003 400027
CCDS CCDS35489
HPRD 15959
IMGT
EMBL AC010089 AY466627 AY466628 AY466629 AY466630 AY547293
GenPept AAR31726 AAR31727 AAR31728 AAR31729 AAS55959
RNA Seq Atlas 1617 57054 57135

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) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

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