• Gene id: 57054

Gene Summary

• Gene Symbol: DAZ3   Gene   UCSC   Ensembl
• Aliases: pDP1679
• Gene name: deleted in azoospermia 3
• Alternate names: deleted in azoospermia protein 3,
• Gene location: Yq11.23 (24813491: 24763068)     Exons: 19     NC_000024.10
• Gene summary(Entrez): 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
• OMIM: 400027

Protein Summary

• Protein general information: Q9NR90  
  • Name: Deleted in azoospermia protein 3
  • Length: 486  
  • Mass: 54,989
• Sequence:

  MSAANPETPNSTISREASTQSSSAAASQGWVLPEGKIVPNTVFVGGIDARMDETEIGSCFGRYGSVKEVKIITNR
  TGVSKGYGFVSFVNDVDVQKIVGSQIHFHGKKLKLGPAIRKQKLCARHVQPRPLVVNPPPPPQFQNVWRNPNTET
  YLQPQITPNPVTQHVQAYSAYPHSPGQVITGCQLLVYNYQEYPTYPDSAFQVTTGYQLPVYNYQPFPAYPRSPFQ
  VTAGYQLPVYNYQAFPAYPNSPFQVATGYQFPVYNYQPFPAYPSSPFQVTAGYQLPVYNYQAFPAYPNSPFQVAT
  GYQFPVYNYQAFPAYPNSPVQVTTGYQLPVYNYQAFPAYPNSPFQVATGYQFPVYNYQAFPAYPNSPVQVTTGYQ
  LPVYNYQAFPAYPNSPFQVATGYQFPVYNYQAFPAYPNSPVQVTTGYQLPVYNYQAFPAYPNSAVQVTTGYQFHV
  YNYQMPPQCPVGEQRRNLWTEAYKWWYLVCLIQRRD

• Structural information:
  • Protein Domains: RRM. (40-115)
    DAZ-like (170-190)
    DAZ-like (194-214)
    DAZ-like (218-238)
    DAZ-like (242-262)
    DAZ-like (266-286)
    DAZ-like (290-310)
    DAZ-like (314-334)
  • Interpro: IPR037366  IPR034778  IPR037551  IPR012677  IPR035979   IPR000504  
  • Prosite: PS50102
  • CDD: cd12672
• Other Databases: GeneCards:  DAZ3  Malacards:  DAZ3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000166	nucleotide binding	IEA	molecular function
GO:0003723	RNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0007275	multicellular organism development	IEA	biological process
GO:0007283	spermatogenesis	IEA	biological process
GO:0030154	cell differentiation	IEA	biological process
GO:0000166	nucleotide binding	IEA	molecular function
GO:0003676	nucleic acid binding	IEA	molecular function
GO:0003723	RNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0007275	multicellular organism development	IEA	biological process
GO:0007283	spermatogenesis	IEA	biological process
GO:0030154	cell differentiation	IEA	biological process

Diseases

Associated diseases	References
Oligozoospermia	GAD: 16963411
Male factor infertility	MIK: 21735657
Male infertility	MIK: 21735657
Spermatogenesis impairment, Male infertility	MIK: 26931020

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21735657	Male infertility	gr/gr deletion		9626 (5246 cases of idiopathic infertility, 4380 controls)	Male infertility
26931020	Spermatogenesis impairment, Male infertility	b2/b3-DAZ1/DAZ2, 3 gr/ gr-DAZ1/DAZ2, 10 gr/gr-DAZ3/DAZ4 deletions, 1 b2/b3- DAZ3/DAZ4 deletions		216 (121 infertile men with different degrees of spermatogenic impairment, 95 healthy donors)	Male infertility