• Gene id: 1618

Gene Summary

• Gene Symbol: DAZL   Gene   UCSC   Ensembl
• Aliases: DAZH, DAZL1, DAZLA, SPGYLA
• Gene name: deleted in azoospermia like
• Alternate names: deleted in azoospermia-like, DAZ homolog, DAZ-like autosomal, SPGY-like-autosomal, deleted in azoospermia-like 1, germline specific RNA binding protein, spermatogenesis gene on the Y-like autosomal, testis secretory sperm-binding protein Li 204a,
• Gene location: 3p24.3 (16605498: 16586791)     Exons: 12     NC_000003.12
• Gene summary(Entrez): The DAZ (Deleted in AZoospermia) gene family encodes potential RNA binding proteins that are expressed in prenatal and postnatal germ cells of males and females. The protein encoded by this gene is localized to the nucleus and cytoplasm of fetal germ cell
• OMIM: 601486

Protein Summary

• Protein general information: Q92904  
  • Name: Deleted in azoospermia like (DAZ homolog) (DAZ like autosomal) (Deleted in azoospermia like 1) (SPGY like autosomal)
  • Length: 295  
  • Mass: 33,178
• Sequence:

  MSTANPETPNSTISREASTQSSSAATSQGYILPEGKIMPNTVFVGGIDVRMDETEIRSFFARYGSVKEVKIITDR
  TGVSKGYGFVSFFNDVDVQKIVESQINFHGKKLKLGPAIRKQNLCAYHVQPRPLVFNHPPPPQFQNVWTNPNTET
  YMQPTTTMNPITQYVQAYPTYPNSPVQVITGYQLPVYNYQMPPQWPVGEQRSYVVPPAYSAVNYHCNEVDPGAEV
  VPNECSVHEATPPSGNGPQKKSVDRSIQTVVSCLFNPENRLRNSVVTQDDYFKDKRVHHFRRSRAMLKSV

• Structural information:
  • Protein Domains: RRM. (40-115)
    DAZ-like. (167-190)
  • Interpro: IPR037366  IPR037551  IPR034779  IPR012677  IPR035979   IPR000504  
  • Prosite: PS50102
  • CDD: cd12672
  • STRING: ENSP00000250863
• Other Databases: GeneCards:  DAZL  Malacards:  DAZL

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000166	nucleotide binding	IEA	molecular function
GO:0001556	oocyte maturation	IEA	biological process
GO:0003723	RNA binding	TAS	molecular function
GO:0003730	mRNA 3'-UTR binding	IEA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005844	polysome	IEA	cellular component
GO:0007147	female meiosis II	IEA	biological process
GO:0007275	multicellular organism development	IEA	biological process
GO:0007281	germ cell development	TAS	biological process
GO:0007283	spermatogenesis	IEA	biological process
GO:0008494	translation activator activity	IDA	molecular function
GO:0042802	identical protein binding	IEA	molecular function
GO:0045836	positive regulation of meiotic nuclear division	IEA	biological process
GO:0045948	positive regulation of translational initiation	IDA	biological process
GO:0000166	nucleotide binding	IEA	molecular function
GO:0001556	oocyte maturation	IEA	biological process
GO:0003676	nucleic acid binding	IEA	molecular function
GO:0003723	RNA binding	IEA	molecular function
GO:0003723	RNA binding	TAS	molecular function
GO:0003730	mRNA 3'-UTR binding	IEA	molecular function
GO:0005515	protein binding	IPI	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:0005737	cytoplasm	IEA	cellular component
GO:0005737	cytoplasm	TAS	cellular component
GO:0005844	polysome	IEA	cellular component
GO:0006417	regulation of translation	IEA	biological process
GO:0007147	female meiosis II	IEA	biological process
GO:0007275	multicellular organism development	IEA	biological process
GO:0007281	germ cell development	IEA	biological process
GO:0007281	germ cell development	TAS	biological process
GO:0007283	spermatogenesis	IEA	biological process
GO:0008494	translation activator activity	IEA	molecular function
GO:0008494	translation activator activity	IDA	molecular function
GO:0030154	cell differentiation	IEA	biological process
GO:0042802	identical protein binding	IEA	molecular function
GO:0045836	positive regulation of meiotic nuclear division	IEA	biological process
GO:0045948	positive regulation of translational initiation	IEA	biological process
GO:0045948	positive regulation of translational initiation	IDA	biological process
GO:0003723	RNA binding	TAS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005737	cytoplasm	TAS	cellular component
GO:0007281	germ cell development	TAS	biological process
GO:0008494	translation activator activity	IDA	molecular function
GO:0045948	positive regulation of translational initiation	IDA	biological process

Diseases

Associated diseases	References
Premature ovarian failure (POF)	INFBASE: 16328470
Non obstructive azoospermia	MIK: 26162009
Maturation arrest	MIK: 26162009
Azoospermia	MIK: 9143498
Asthenozoospermia	MIK: 24015185
Sperm motility	MIK: 11872225
Sperm motility	MIK: 20462796
Oligozoospermia	MIK: 8968756
Male factor infertility	MIK: 26442298
Spermatogenesis defects	MIK: 26442298
Spermatogenesis defects	MIK: 16573709
Spermatogenesis defects	MIK: 26442298
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Associated with spermatogenesis and epigenetic regulation	MIK: 21674046
Azoospermia	MIK: 11675467
Male infertility	MIK: 9143498
Oligozoospermia	MIK: 8968756
Cryptorchidism	MIK: 28606200
Asthenozoospermia	MIK: 24015185
Maturation arrest	MIK: 26162009
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
22329245	Male infertility	DAZL 260A > G and MTHFR  677C > T	Indian	200 (100 oligozoopsermic infertile men, 100 age- and ethnically-matched fertile controls)	Male infertility	DAZL MTHFR
9143498	Azoospermia, male infertility				Male infertility
8968756	Azoospermia, Oligozoospermia, Male infertility				Male infertility
11872225	Sperm motility				Male infertility
26162009	Non- obstructive azoospermia, maturation arrest			80 (12 men with preserved spermatogenesis, 68 men with nonobstructive azoospermia (NOA) (40 Sertoli-cell-only syndrome (SCOS) and 28 premiotic maturation arrest (MA)))	Male infertility	USP9Y DDX3Y XKRY HSFY1 CYORF15A CYORF15B KDM5D EIF1AY RPS4Y2 RBMY1A1 PRY BPY2 DAZ1 and CDY1
11675467	Azoospermia			17 (4 normal spermatogenesis, 6 hypospermatogenesis or maturation arrest, 7 Sertoli cell-only syndrome)	Male infertility
25323654	Male infertility	DAZL SNP260, SNP386		236 (196 male patients with azoospermia or severe oligospermia, 40 healthy, fertile males as controls)	Male infertility
24015185	Male infertility, oligozoospermia (OZ), asthenozoospermia (AZ)			60 (20 infertile OZ patients and 20 infertile AZ patients were compared with 20 fertile normozoospermic men)	Male infertility
26442298	Spermatogenic failure, Male infertility	A260G, A386G	Chinese	563 (317 idiopathic infertile males with azoospermia or oligozoospermia, 246 normal fertile men)	Male infertility
22752612	Spermatogenic failure	DAZL (-792G>A, -669A>C and -309T>C)	Taiwane se Han	540 (337 infertile men with abnormal semen parameters, 203 fertile men with normal semen parameters)	Male infertility	DAZL
20462796	sperm counts, sperm motility	DAZL (260A-->G, 386A-->G, 520+34c-->a, 584+28c-->t and 796+36g-->a)		677 (210 men with normal sperm parameters, 467 men with abnormal semen parameters)	Male infertility	DAZL
19342699	Male infertility	DAZL haplotypes from 4 variations, including T12A, and of BOULE haplotypes	Chinese Han	214 (157 azoo-/oligzoospermic men, 57 normozoospermic men)	Male infertility	DAZL BOULE
17918711	Male infertility	SNP260AG, SNP386	Taiwan, Chines e	197 (144 male infertility, 53 controls)	Male infertility	DAZL
16573709	Spermatogenic failure	DAZL (A386G (T54A), A260G (T12A) and A437G (I71V))	Taiwan ese, Ca ucasian s	1010 (660 infertile men with 598 non-obstructive azoospermia, 62 severe oligozoospermia and 350 normozoospermic fertile control men)	Male infertility	DAZL
16123080	Male infertility	DAZL (T54A, T12A)	Taiwane se	365 (234 patients with azoospermia or oligozoospermia, 131 fertile controls)	Male infertility	DAZL
15520024	Male infertility, oligozoospermia, azoospermia	DAZL (SNP 260, SNP 386)	Caucasi an	367 (165 normozoospermic men, 202 oligo- or azoospermic patients)	Male infertility	DAZL
9783841	Non-obstructive azoospermia			38 (20 Sertoli cell-only syndrome, 6 maturation arrest, 6 hypospermatogenesis, 6 obstructive azoospermic patients with normal spermatogenesis)	Male infertility	DAZ DAZL1
16884537	Male infertility				Male infertility
16730721	Spermatogenic failure	260A>G, 386A>G, 520+34c>a, 584+28c>t and 796+36g>a. SNP 386A>G		422 (231 infertile men and 191 men with proven fertility)	Male infertility
15595957	Susceptibility to spermatogenic failure	T54A	Chinese		Male infertility
15220464	Male infertility	Thr54Ala	Italian	158 (95 infertile Italian patients, 63 controls)	Male infertility
10393944	Male infertility				Male infertility
9294855	Male infertility				Male infertility
28388287	Male infertility	N109T			Male infertility
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Associated with spermatogenesis and epigenetic regulation			18	Male infertility	GSE26881
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray