Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	1617
Gene name	Deleted in azoospermia 1
Gene symbol	DAZ1
Synonyms (NCBI Gene)	DAZSPGY
Chromosome	Y
Chromosome location	Yq11.223
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

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miRTarBase ID	miRNA	Experiments
MIRT923309	hsa-let-7a	CLIP-seq
MIRT923310	hsa-let-7b	CLIP-seq
MIRT923311	hsa-let-7c	CLIP-seq
MIRT923312	hsa-let-7d	CLIP-seq
MIRT923313	hsa-let-7e	CLIP-seq
MIRT923314	hsa-let-7f	CLIP-seq
MIRT923315	hsa-let-7g	CLIP-seq
MIRT923316	hsa-let-7i	CLIP-seq
MIRT923317	hsa-miR-1270	CLIP-seq
MIRT923318	hsa-miR-1304	CLIP-seq
MIRT923319	hsa-miR-202	CLIP-seq
MIRT923320	hsa-miR-203	CLIP-seq
MIRT923321	hsa-miR-3140-3p	CLIP-seq
MIRT923322	hsa-miR-3140-5p	CLIP-seq
MIRT923323	hsa-miR-3682-5p	CLIP-seq
MIRT923324	hsa-miR-3923	CLIP-seq
MIRT923325	hsa-miR-4276	CLIP-seq
MIRT923326	hsa-miR-4302	CLIP-seq
MIRT923327	hsa-miR-432	CLIP-seq
MIRT923328	hsa-miR-4434	CLIP-seq
MIRT923329	hsa-miR-4458	CLIP-seq
MIRT923330	hsa-miR-4500	CLIP-seq
MIRT923331	hsa-miR-4516	CLIP-seq
MIRT923332	hsa-miR-4531	CLIP-seq
MIRT923333	hsa-miR-4733-5p	CLIP-seq
MIRT923334	hsa-miR-4766-5p	CLIP-seq
MIRT923335	hsa-miR-4777-5p	CLIP-seq
MIRT923336	hsa-miR-513a-3p	CLIP-seq
MIRT923337	hsa-miR-518d-5p	CLIP-seq
MIRT923338	hsa-miR-519b-5p	CLIP-seq
MIRT923339	hsa-miR-519c-5p	CLIP-seq
MIRT923340	hsa-miR-520c-5p	CLIP-seq
MIRT923341	hsa-miR-526a	CLIP-seq
MIRT923342	hsa-miR-548u	CLIP-seq
MIRT923343	hsa-miR-561	CLIP-seq
MIRT923344	hsa-miR-606	CLIP-seq
MIRT923345	hsa-miR-620	CLIP-seq
MIRT923346	hsa-miR-628-3p	CLIP-seq
MIRT923347	hsa-miR-98	CLIP-seq
MIRT923325	hsa-miR-4276	CLIP-seq
MIRT923326	hsa-miR-4302	CLIP-seq

Show/Hide all (19)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003676	Function	Nucleic acid binding	IEA
GO:0003723	Function	RNA binding	IEA
GO:0003730	Function	MRNA 3'-UTR binding	IBA
GO:0003730	Function	MRNA 3'-UTR binding	IEA
GO:0005515	Function	Protein binding	IPI	10857750, 12511597, 15081113, 16001084
GO:0005634	Component	Nucleus	IDA	15081113
GO:0005634	Component	Nucleus	IEA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IDA	15081113, 31429579
GO:0005737	Component	Cytoplasm	IEA
GO:0007283	Process	Spermatogenesis	IEA
GO:0008494	Function	Translation activator activity	IBA
GO:0008494	Function	Translation activator activity	IDA	16001084
GO:0030154	Process	Cell differentiation	IEA
GO:0032991	Component	Protein-containing complex	IDA	10857750
GO:0032991	Component	Protein-containing complex	IEA
GO:0045948	Process	Positive regulation of translational initiation	IBA
GO:0045948	Process	Positive regulation of translational initiation	IDA	16001084
GO:0070935	Process	3'-UTR-mediated mRNA stabilization	IBA

MIM	HGNC	e!Ensembl
400003	2682	ENSG00000188120

Q9NQZ3

Protein name

Deleted in azoospermia protein 1

Protein function

RNA-binding protein that plays an essential role in spermatogenesis. May act by binding to the 3'-UTR of mRNAs and regulating their translation. Promotes germ-cell progression to meiosis and formation of haploid germ cells. {ECO:0000269|PubMed:1

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
PF00076	RRM_1	207 → 274	RNA recognition motif. (a.k.a. RRM, RBD, or RNP domain)	Domain
PF00076	RRM_1	372 → 439	RNA recognition motif. (a.k.a. RRM, RBD, or RNP domain)	Domain
PF18872	Daz	500 → 520	Daz repeat	Repeat
PF18872	Daz	524 → 544	Daz repeat	Repeat
PF18872	Daz	548 → 568	Daz repeat	Repeat
PF18872	Daz	572 → 592	Daz repeat	Repeat
PF18872	Daz	596 → 616	Daz repeat	Repeat
PF18872	Daz	620 → 640	Daz repeat	Repeat
PF18872	Daz	644 → 664	Daz repeat	Repeat
PF18872	Daz	668 → 688	Daz repeat	Repeat
PF18872	Daz	692 → 712	Daz repeat	Repeat

Tissue specificity

TISSUE SPECIFICITY: Testis-specific. Expression restricted to premeiotic germ cells, particularly in spermatogonia (at protein level). {ECO:0000269|PubMed:10936047, ECO:0000269|PubMed:18385127, ECO:0000269|PubMed:19223287}.

Sequence

MSAANPETPNSTISREASTQSSSAAASQGWVLPEGKIVPNTVFVGGIDARMDETEIGSCF
GRYGSVKEVKIITNRTGVSKGYGFVSFVNDVDVQKIVGSQIHFHGKKLKLGPAIRKQKLC
ARHVQPRPLVVNPPPPPQFQNVWRNPNTETYLQPQITPNPVTQHVQSAANPETPNSTISR
EASTQSSSAAASQGWVLPEGKIVPNTVFVGGIDARMDETEIGSCFGRYGSVKEVKIITNR
TGVSKGYGFVSFVNDVDVQKIVGSQIHFHGKKLKLGPAIRKQKLCARHVQPRPLVVNPPP
PPQFQNVWRNPNTETYLQPQITPNPVTQHVQSAANPETPNSTISREASTQSSSAAASQGW
VLPEGKIVPNTVFVGGIDARMDETEIGSCFGRYGSVKEVKIITNRTGVSKGYGFVSFVND
VDVQKIVGSQIHFHGKKLKLGPAIRKQKLCARHVQPRPLVVNPPPPPQFQNVWRNPNTET
YLQPQITPNPVTQHVQAYSAYPHSPGQVITGCQLLVYNYQEYPTYPDSAFQVTTGYQLPV
YNYQPFPAYPRSPFQVTAGYQLPVYNYQAFPAYPNSPFQVATGYQFPVYNYQPFPAYPSS
PFQVTAGYQLPVYNYQAFPAYPNSPFQVATGYQFPVYNYQAFPAYPNSPVQVTTGYQLPV
YNYQAFPAYPSSPFQVTTGYQLPVYNYQAFPAYPNSAVQVTTGYQFHVYNYQMPPQCPVG
EQRRNLWTEAYKWWYLVCLIQRRD

Sequence length

744

Interactions

View interactions

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (3)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
CHROMOSOME Y MICRODELETION SYNDROME	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPERMATOGENIC FAILURE, NONOBSTRUCTIVE, Y-LINKED	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPERMATOGENIC FAILURE, Y-LINKED, 2	—	ClinVar, HPO ClinVar, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (27)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Asthenozoospermia	Asthenozoospermia	BEFREE	28521575		★★★★★ ★☆☆☆☆ Found in Text Mining only
Azoospermia	Azoospermia	BEFREE	10360905, 10819768, 10908277, 11163833, 11294825, 11807882, 11930664, 12085101, 16275261, 16580401, 18326516, 23696539, 26149076, 26232607, 27739146, 28521575, 9091344, 9239708, 9294855 View all (4 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Azoospermia	Azoospermia	Pubtator	10360905, 10439009, 11532470, 16580401, 26149076, 9091344	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Azoospermia	Azoospermia	Pubtator	22648284	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Azoospermia	Azoospermia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Azoospermia Nonobstructive	Nonobstructive azoospermia	Pubtator	10685522, 10856465	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Azoospermia, Nonobstructive	Azoospermia	BEFREE	10685522		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	25994570		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	BEFREE	11869370, 15066457, 17609244, 9880685		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	Pubtator	15066457	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypogonadotropic hypogonadism	Hypogonadotropic Hypogonadism	BEFREE	9880685		★★★★★ ★☆☆☆☆ Found in Text Mining only
Infertility	Infertility	Pubtator	19865085, 20576090	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Infertility Male	Male infertility	Pubtator	10975411, 15066457, 21948751, 28521575, 37365340	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	25994570		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	11743352		★★★★★ ★☆☆☆☆ Found in Text Mining only
Non-obstructive azoospermia	Non-obstructive azoospermia	BEFREE	23696539		★★★★★ ★☆☆☆☆ Found in Text Mining only
Non-obstructive azoospermia	Non-obstructive azoospermia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Oligospermia	Oligospermia	BEFREE	10360905, 10393944, 10402373, 10685522, 11294825, 11870237, 11930664, 15066460, 15347736, 16275261, 16580401, 18326516, 20823911, 22648284, 24878370 View all (7 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Oligospermia	Oligospermia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Partial chromosome Y deletion	Partial Chromosome Y Deletion	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Prader-Willi Syndrome	Prader-Willi Syndrome	BEFREE	11869370		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	11743352		★★★★★ ★☆☆☆☆ Found in Text Mining only
Spermatogenic Failure, Nonobstructive, Y-Linked	Nonobstructive Spermatogenic Failure, Y-Linked	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Testicular Germ Cell Tumor	Testicular germ cell tumor	Pubtator	27723784, 31053779	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Turner Syndrome	Turner Syndrome	BEFREE	18545811, 19030103		★★★★★ ★☆☆☆☆ Found in Text Mining only
Turner Syndrome	Turner syndrome	Pubtator	19030103	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

DAZ1 (deleted in azoospermia 1)