DAZL (deleted in azoospermia like)

Gene

• Entrez ID: 1618
• Gene name: Deleted in azoospermia like
• Gene symbol: DAZL
• Synonyms (NCBI Gene): DAZH, DAZL1, DAZLA, SPGYLA
• Chromosome: 3
• Chromosome location: 3p24.3
• Summary: 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

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs121918346	T>C,G	Risk-factor	Missense variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT016720	hsa-miR-335-5p	Microarray	18185580
MIRT923605	hsa-miR-103a	CLIP-seq
MIRT923606	hsa-miR-107	CLIP-seq
MIRT923607	hsa-miR-1179	CLIP-seq
MIRT923608	hsa-miR-1251	CLIP-seq
MIRT923609	hsa-miR-1301	CLIP-seq
MIRT923610	hsa-miR-369-3p	CLIP-seq
MIRT923611	hsa-miR-374c	CLIP-seq
MIRT923612	hsa-miR-4310	CLIP-seq
MIRT923613	hsa-miR-4495	CLIP-seq
MIRT923614	hsa-miR-4789-5p	CLIP-seq
MIRT923615	hsa-miR-5047	CLIP-seq
MIRT923616	hsa-miR-548u	CLIP-seq
MIRT923617	hsa-miR-655	CLIP-seq
MIRT1973626	hsa-miR-3185	CLIP-seq
MIRT2209170	hsa-miR-3140-3p	CLIP-seq
MIRT2209171	hsa-miR-3647-3p	CLIP-seq
MIRT2209172	hsa-miR-522	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003723	Function	RNA binding	TAS	8968755
GO:0003730	Function	MRNA 3'-UTR binding	IBA	21873635
GO:0005515	Function	Protein binding	IPI	10857750, 16001084
GO:0005634	Component	Nucleus	IEA
GO:0005737	Component	Cytoplasm	IBA	21873635
GO:0007275	Process	Multicellular organism development	IEA
GO:0007281	Process	Germ cell development	IEA
GO:0007283	Process	Spermatogenesis	IEA
GO:0008494	Function	Translation activator activity	IBA	21873635
GO:0008494	Function	Translation activator activity	IDA	16001084
GO:0032991	Component	Protein-containing complex	IDA	10857750
GO:0045948	Process	Positive regulation of translational initiation	IBA	21873635
GO:0045948	Process	Positive regulation of translational initiation	IDA	16001084
GO:0070935	Process	3'-UTR-mediated mRNA stabilization	IBA	21873635

Other IDs

• MIM: 601486
• HGNC: 2685
• e!Ensembl: ENSG00000092345

Protein

• UniProt ID: Q92904
• Protein name: Deleted in azoospermia-like (DAZ homolog) (DAZ-like autosomal) (Deleted in azoospermia-like 1) (SPGY-like-autosomal)
• Protein function: RNA-binding protein, which is essential for gametogenesis in both males and females. Plays a central role during spermatogenesis. Acts by binding to the 3'-UTR of mRNA, specifically recognizing GUU triplets, and thereby regulating the translatio
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00076	RRM_1	42 → 109	RNA recognition motif. (a.k.a. RRM, RBD, or RNP domain)	Domain
  PF18872	Daz	170 → 190	Daz repeat	Repeat

• Tissue specificity: TISSUE SPECIFICITY: Testis specific. {ECO:0000269|PubMed:8896558, ECO:0000269|PubMed:8968755, ECO:0000269|PubMed:8968756}.
• Sequence:

  MSTANPETPNSTISREASTQSSSAATSQGYILPEGKIMPNTVFVGGIDVRMDETEIRSFF
  ARYGSVKEVKIITDRTGVSKGYGFVSFFNDVDVQKIVESQINFHGKKLKLGPAIRKQNLC
  AYHVQPRPLVFNHPPPPQFQNVWTNPNTETYMQPTTTMNPITQYVQAYPTYPNSPVQVIT
  GYQLPVYNYQMPPQWPVGEQRSYVVPPAYSAVNYHCNEVDPGAEVVPNECSVHEATPPSG
  NGPQKKSVDRSIQTVVSCLFNPENRLRNSVVTQDDYFKDKRVHHFRRSRAMLKSV

• Sequence length: 295

Associated diseases

Unknown
Disease term	Disease name	Evidence	References	Source
Testicular Germ Cell Tumor	Testicular Germ Cell Tumor			GWAS

Associations from Text Mining
Disease Name	Relationship Type	References
Arrest of spermatogenesis	Associate	20685756
Azoospermia	Associate	19006796
Azoospermia	Inhibit	26989066
Breast Neoplasms	Associate	16228988
Infertility	Associate	19865085
Infertility Male	Associate	11499325, 33786731
Male Infertility with Large Headed Multiflagellar Polyploid Spermatozoa	Associate	15066460, 24803180
Medulloblastoma	Associate	18664619
Ovarian Cysts	Associate	19006796
Ovarian Dysgenesis 2	Associate	16884537
Seminoma	Associate	16228988