Q9NQZ3 (DAZ1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Deleted in azoospermia protein 1

Gene names

Name:	DAZ1
Synonyms:	DAZ, SPGY

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	744 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

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. Ref.15
Subunit structure	Forms a heterodimer with BOLL and DAZL. Interacts with PUM2, DAZAP1, DAZAP2, DZIP1 and DZIP3. Ref.3 Ref.5 Ref.6 Ref.7
Subcellular location	Cytoplasm. Nucleus. Note: Predominantly cytoplasmic. Nuclear at some stages of spermatozoide development. Localizes both to the nuclei and cytoplasm of spermatozoide differentiation. Nuclear in fetal gonocytes and in spermatogonial nuclei. It then relocates to the cytoplasm during male meiosis. Ref.4
Tissue specificity	Testis-specific. Expression restricted to premeiotic germ cells, particularly in spermatogonia (at protein level). Ref.2 Ref.13 Ref.14
Domain	The DAZ-like repeats are essential and mediate the interaction with DAZAP1 and DAZAP2.
Polymorphism	The number as well as the precise structure of the DAZ proteins probably differs within the population.
Involvement in disease	Defects in DAZ1 may be a cause of spermatogenic failure Y-linked type 2 (SPGFY2) [MIM:415000]. It is a disorder resulting in the absence (azoospermia) or reduction (oligozoospermia) of sperm in the semen, leading to male infertility. Note=AZFc deletions in the Yq11.23 region including the DAZ genes are the most common known genetic cause of human male infertility. Ref.9 Ref.10 Ref.11
Miscellaneous	DAZ genes are prone to deletions but also to duplications. In a population of infertile men, DAZ genes deletions are associated with oligozoospermia but an increased number of DAZ genes is not a significant risk factor for spermatogenic failure. The DAZ proteins (DAZ, DAZ2, DAZ4 and DAZ4) are all encoded by a strongly repeated region of the Y chromosome, in two clusters each comprising an inverted pair of DAZ genes. They are very similar, which gives their indidual characterization difficult. Thus, most experiments do not discriminate between the different members. One can therefore suppose that reported interactions with a DAZ protein involve all the 4 proteins.
Sequence similarities	Belongs to the RRM DAZ family. Contains 9 DAZ-like domains. Contains 3 RRM (RNA recognition motif) domains.

Ontologies

Keywords
Biological process	Differentiation Spermatogenesis
Cellular component	Cytoplasm Nucleus
Domain	Repeat
Ligand	RNA-binding
Molecular function	Developmental protein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological process	cell differentiation Inferred from electronic annotation. Source: UniProtKB-KW multicellular organismal development Inferred from electronic annotation. Source: UniProtKB-KW positive regulation of translational initiation Inferred from direct assay. Source: UniProtKB spermatogenesis Inferred from electronic annotation. Source: UniProtKB-KW
Cellular component	cytoplasm Inferred from electronic annotation. Source: UniProtKB-SubCell nucleus Inferred from electronic annotation. Source: UniProtKB-SubCell
Molecular function	RNA binding Inferred from electronic annotation. Source: UniProtKB-KW nucleotide binding Inferred from electronic annotation. Source: InterPro protein binding Inferred from physical interaction. Source: UniProtKB translation activator activity Inferred from direct assay. Source: UniProtKB
Complete GO annotation...

Binary interactions

With	Entry	#Exp.	IntAct	Notes
PUM2	Q8TB72	5	EBI-997955,EBI-311190

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 744	744	Deleted in azoospermia protein 1		PRO_0000081554
Regions
	Domain	40 – 115	76	RRM 1
	Domain	205 – 280	76	RRM 2
	Domain	370 – 445	76	RRM 3
	Domain	500 – 520	21	DAZ-like 1
	Domain	524 – 544	21	DAZ-like 2
	Domain	549 – 569	21	DAZ-like 3
	Domain	572 – 592	21	DAZ-like 4
	Domain	596 – 616	21	DAZ-like 5
	Domain	620 – 640	21	DAZ-like 6
	Domain	644 – 664	21	DAZ-like 7
	Domain	668 – 688	21	DAZ-like 8
	Domain	692 – 712	21	DAZ-like 9
Experimental info
	Sequence conflict	287	1	R → G in AAF91405. Ref.2

Sequences

	Sequence		Length	Mass (Da)
	Q9NQZ3 [UniParc]. Last modified March 1, 2004. Version 2. Checksum: 341CB19EFC82F757	FASTA	744	82,764
	10 20 30 40 50 60 MSAANPETPN STISREASTQ SSSAAASQGW VLPEGKIVPN TVFVGGIDAR MDETEIGSCF 70 80 90 100 110 120 GRYGSVKEVK IITNRTGVSK GYGFVSFVND VDVQKIVGSQ IHFHGKKLKL GPAIRKQKLC 130 140 150 160 170 180 ARHVQPRPLV VNPPPPPQFQ NVWRNPNTET YLQPQITPNP VTQHVQSAAN PETPNSTISR 190 200 210 220 230 240 EASTQSSSAA ASQGWVLPEG KIVPNTVFVG GIDARMDETE IGSCFGRYGS VKEVKIITNR 250 260 270 280 290 300 TGVSKGYGFV SFVNDVDVQK IVGSQIHFHG KKLKLGPAIR KQKLCARHVQ PRPLVVNPPP 310 320 330 340 350 360 PPQFQNVWRN PNTETYLQPQ ITPNPVTQHV QSAANPETPN STISREASTQ SSSAAASQGW 370 380 390 400 410 420 VLPEGKIVPN TVFVGGIDAR MDETEIGSCF GRYGSVKEVK IITNRTGVSK GYGFVSFVND 430 440 450 460 470 480 VDVQKIVGSQ IHFHGKKLKL GPAIRKQKLC ARHVQPRPLV VNPPPPPQFQ NVWRNPNTET 490 500 510 520 530 540 YLQPQITPNP VTQHVQAYSA YPHSPGQVIT GCQLLVYNYQ EYPTYPDSAF QVTTGYQLPV 550 560 570 580 590 600 YNYQPFPAYP RSPFQVTAGY QLPVYNYQAF PAYPNSPFQV ATGYQFPVYN YQPFPAYPSS 610 620 630 640 650 660 PFQVTAGYQL PVYNYQAFPA YPNSPFQVAT GYQFPVYNYQ AFPAYPNSPV QVTTGYQLPV 670 680 690 700 710 720 YNYQAFPAYP SSPFQVTTGY QLPVYNYQAF PAYPNSAVQV TTGYQFHVYN YQMPPQCPVG 730 740 EQRRNLWTEA YKWWYLVCLI QRRD

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"The male-specific region of the human Y chromosome is a mosaic of discrete sequence classes." Skaletsky H., Kuroda-Kawaguchi T., Minx P.J., Cordum H.S., Hillier L.W., Brown L.G., Repping S., Pyntikova T., Ali J., Bieri T., Chinwalla A., Delehaunty A., Delehaunty K., Du H., Fewell G., Fulton L., Fulton R., Graves T.A. , Hou S.-F., Latrielle P., Leonard S., Mardis E., Maupin R., McPherson J., Miner T., Nash W., Nguyen C., Ozersky P., Pepin K., Rock S., Rohlfing T., Scott K., Schultz B., Strong C., Tin-Wollam A., Yang S.-P., Waterston R.H., Wilson R.K., Rozen S., Page D.C. Nature 423:825-837(2003) [PubMed: 12815422] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[2]	"Four DAZ genes in two clusters found in the AZFc region of the human Y chromosome." Saxena R., de Vries J.W.A., Repping S., Alagappan R.K., Skaletsky H., Brown L.G., Ma P., Chen E., Hoovers J.M.N., Page D.C. Genomics 67:256-267(2000) [PubMed: 10936047] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 244-744, GENE STRUCTURE, GENE NOMENCLATURE, TISSUE SPECIFICITY.
[3]	"Identification of two novel proteins that interact with germ-cell-specific RNA-binding proteins DAZ and DAZL1." Tsui S., Dai T., Roettger S., Schempp W., Salido E.C., Yen P.H. Genomics 65:266-273(2000) [PubMed: 10857750] [Abstract] Cited for: INTERACTION WITH DAZAP1 AND DAZAP2.
[4]	"DAZ family proteins exist throughout male germ cell development and transit from nucleus to cytoplasm at meiosis in humans and mice." Reijo R.A., Dorfman D.M., Slee R., Renshaw A.A., Loughlin K.R., Cooke H., Page D.C. Biol. Reprod. 63:1490-1496(2000) [PubMed: 11058556] [Abstract] Cited for: SUBCELLULAR LOCATION.
[5]	"In vivo and in vitro analysis of homodimerisation activity of the mouse Dazl1 protein." Ruggiu M., Cooke H.J. Gene 252:119-126(2000) [PubMed: 10903443] [Abstract] Cited for: INTERACTION WITH DAZL.
[6]	"A gene family required for human germ cell development evolved from an ancient meiotic gene conserved in metazoans." Xu E.Y., Moore F.L., Reijo Pera R.A. Proc. Natl. Acad. Sci. U.S.A. 98:7414-7419(2001) [PubMed: 11390979] [Abstract] Cited for: INTERACTION WITH BOLL.
[7]	"Human Pumilio-2 is expressed in embryonic stem cells and germ cells and interacts with DAZ (Deleted in AZoospermia) and DAZ-like proteins." Moore F.L., Jaruzelska J., Fox M.S., Urano J., Firpo M.T., Turek P.J., Dorfman D.M., Reijo Pera R.A. Proc. Natl. Acad. Sci. U.S.A. 100:538-543(2003) [PubMed: 12511597] [Abstract] Cited for: INTERACTION WITH PUM2; DZIP1 AND DZIP3.
[8]	"Polymorphic DAZ gene family in polymorphic structure of AZFc locus: artwork or functional for human spermatogenesis?" Vogt P.H., Fernandes S. APMIS 111:115-127(2003) [PubMed: 12752250] [Abstract] Cited for: REVIEW.
[9]	"Male infertility caused by a de novo partial deletion of the DAZ cluster on the Y chromosome." Moro E., Ferlin A., Yen P.H., Franchi P.G., Palka G., Foresta C. J. Clin. Endocrinol. Metab. 85:4069-4073(2000) [PubMed: 11095434] [Abstract] Cited for: INVOLVEMENT IN SPGFY2.
[10]	"High frequency of DAZ1/DAZ2 gene deletions in patients with severe oligozoospermia." Fernandes S., Huellen K., Goncalves J., Dukal H., Zeisler J., Rajpert De Meyts E., Skakkebaek N.E., Habermann B., Krause W., Sousa M., Barros A., Vogt P.H. Mol. Hum. Reprod. 8:286-298(2002) [PubMed: 11870237] [Abstract] Cited for: INVOLVEMENT IN SPGFY2.
[11]	"Partial DAZ deletions in a family with five infertile brothers." Gianotten J., Hoffer M.J.V., De Vries J.W.A., Leschot N.J., Gerris J., van der Veen F. Fertil. Steril. 79:1652-1655(2003) [PubMed: 12801575] [Abstract] Cited for: INVOLVEMENT IN SPGFY2.
[12]	"Copy number of DAZ genes in infertile men." Writzl K., Zorn B., Peterlin B. Fertil. Steril. 84:1522-1525(2005) [PubMed: 16275261] [Abstract] Cited for: GENE DUPLICATION.
[13]	"Restricted expression of the human DAZ protein in premeiotic germ cells." Huang W.J., Lin Y.W., Hsiao K.N., Eilber K.S., Salido E.C., Yen P.H. Hum. Reprod. 23:1280-1289(2008) [PubMed: 18385127] [Abstract] Cited for: TISSUE SPECIFICITY.
[14]	"Polymorphic expression of DAZ proteins in the human testis." Kim B., Lee Y., Kim Y., Lee K.H., Chun S., Rhee K., Seo J.T., Kim S.W., Paick J.S. Hum. Reprod. 24:1507-1515(2009) [PubMed: 19223287] [Abstract] Cited for: TISSUE SPECIFICITY.
[15]	"Human DAZL, DAZ and BOULE genes modulate primordial germ-cell and haploid gamete formation." Kee K., Angeles V.T., Flores M., Nguyen H.N., Reijo Pera R.A. Nature 462:222-225(2009) [PubMed: 19865085] [Abstract] Cited for: FUNCTION.
+	Additional computationally mapped references.

Web resources

GeneReviews

Cross-references

Sequence databases
EMBL GenBank DDBJ	AC006338 Genomic DNA. No translation available. AF271087 Transcribed RNA. Translation: AAF91405.1. AF271088 mRNA. Translation: AAF91406.1.
IPI	IPI00334616.
RefSeq	NP_004072.3. NM_004081.5.
UniGene	Hs.522868. Hs.70936.
3D structure databases
ProteinModelPortal	Q9NQZ3.
SMR	Q9NQZ3. Positions 32-117, 197-282, 362-447.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q9NQZ3. 8 interactions.
MINT	MINT-254473.
STRING	Q9NQZ3.
Polymorphism databases
DMDM	44887841.
Proteomic databases
PRIDE	Q9NQZ3.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000405239; ENSP00000384573; ENSG00000188120.
GeneID	1617.
KEGG	hsa:1617.
UCSC	uc004fvl.2. human.
Organism-specific databases
CTD	1617.
GeneCards	GC0YM025275.
HGNC	HGNC:2682. DAZ1.
MIM	400003. gene. 415000. phenotype.
neXtProt	NX_Q9NQZ3.
Orphanet	1646. Partial chromosome Y deletion.
GenAtlas	Search...
Phylogenomic databases
GeneTree	ENSGT00530000063480.
HOGENOM	HBG100922.
HOVERGEN	HBG048860.
InParanoid	Q9NQZ3.
Gene expression databases
Bgee	Q9NQZ3.
CleanEx	HS_DAZ1.
Genevestigator	Q9NQZ3.
GermOnline	ENSG00000188120. Homo sapiens.
Family and domain databases
InterPro	IPR012677. Nucleotide-bd_a/b_plait. IPR000504. RRM_dom. [Graphical view]
Gene3D	G3DSA:3.30.70.330. a_b_plait_nuc_bd. 3 hits.
Pfam	PF00076. RRM_1. 3 hits. [Graphical view]
SMART	SM00360. RRM. 3 hits. [Graphical view]
PROSITE	PS50102. RRM. 3 hits. [Graphical view]
ProtoNet	Search...
Other
NextBio	6642.
SOURCE	Search...

Entry information

Entry name

DAZ1_HUMAN

Accession

Primary (citable) accession number: Q9NQZ3
Secondary accession number(s): Q9NQZ4

Entry history

Integrated into UniProtKB/Swiss-Prot:	March 1, 2004
Last sequence update:	March 1, 2004
Last modified:	January 25, 2012
This is version 98 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.