Version 5.4
Homo sapiens Gene: DAZ1
Summary
InnateDB Gene IDBG-601.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol DAZ1
Gene Name deleted in azoospermia 1
Synonyms
Species Homo sapiens
Ensembl Gene ENSG00000188120
Encoded Proteins
IDBP-609
deleted in azoospermia 1
IDBP-292431
deleted in azoospermia 1
IDBP-363300
deleted in azoospermia 1
IDBP-589136
deleted in azoospermia 1
IDBP-812588
deleted in azoospermia 1
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 two copies of the 10.8 kb repeat. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Feb 2011] 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 three copies of the 10.8 kb repeat. However, no transcripts containing three copies of the RRM domain have been described; thus the RefSeq for this gene contains only two RRM domains. [provided by RefSeq, Jul 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome Y:23129355-23199094
Strand Reverse strand
Band q11.223
Transcripts
ENST00000382510 ENSP00000371950
ENST00000405239 ENSP00000384573
ENST00000426000 ENSP00000400716
ENST00000466332
ENST00000540248 ENSP00000444407
ENST00000620725 ENSP00000484907
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
Cellular Component
GO:0005634 nucleus
GO:0005737 cytoplasm
Orthologs
No orthologs found for this gene
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.522868 Hs.600914 Hs.70936 Hs.732961
RefSeq NM_001005375 NM_004081
HUGO
OMIM
CCDS CCDS48209
HPRD 15958
IMGT
EMBL
GenPept
RNA Seq Atlas

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