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Q9NQZ3 (DAZ1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 119. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (3) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Interactions·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Deleted in azoospermia protein 1
Gene names
Name:DAZ1
Synonyms:DAZ, SPGY
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length744 AA.
Sequence statusComplete.
Protein existenceEvidence 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

Spermatogenic failure Y-linked 2 (SPGFY2) [MIM:415000]: A disorder resulting in the absence (azoospermia) or reduction (oligozoospermia) of sperm in the semen, leading to male infertility.
Note: The disease may be caused by mutations affecting the gene represented in this entry. 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.

Binary interactions

With

Entry

#Exp.

IntAct

Notes

PUM2Q8TB725EBI-997955,EBI-311190

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 744744Deleted in azoospermia protein 1
PRO_0000081554

Regions

Domain40 – 11576RRM 1
Domain205 – 28076RRM 2
Domain370 – 44576RRM 3
Domain500 – 52021DAZ-like 1
Domain524 – 54421DAZ-like 2
Domain549 – 56921DAZ-like 3
Domain572 – 59221DAZ-like 4
Domain596 – 61621DAZ-like 5
Domain620 – 64021DAZ-like 6
Domain644 – 66421DAZ-like 7
Domain668 – 68821DAZ-like 8
Domain692 – 71221DAZ-like 9

Experimental info

Sequence conflict2871R → G in AAF91405. Ref.2

Sequences

Sequence LengthMass (Da)Tools
Q9NQZ3 [UniParc].

Last modified March 1, 2004. Version 2.
Checksum: 341CB19EFC82F757

FASTA74482,764
        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 

« Hide

References

« Hide '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. expand/collapse author list , 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] [Europe PMC] [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] [Europe PMC] [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] [Europe PMC] [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] [Europe PMC] [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] [Europe PMC] [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] [Europe PMC] [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] [Europe PMC] [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] [Europe PMC] [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] [Europe PMC] [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] [Europe PMC] [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] [Europe PMC] [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] [Europe PMC] [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] [Europe PMC] [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] [Europe PMC] [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] [Europe PMC] [Abstract]
Cited for: FUNCTION.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AC006338 Genomic DNA. No translation available.
AF271087 Transcribed RNA. Translation: AAF91405.1.
AF271088 mRNA. Translation: AAF91406.1.
CCDSCCDS48209.1.
RefSeqNP_004072.3. NM_004081.5.
UniGeneHs.522868.
Hs.70936.

3D structure databases

ProteinModelPortalQ9NQZ3.
SMRQ9NQZ3. Positions 32-117, 142-286, 307-451.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid107986. 11 interactions.
IntActQ9NQZ3. 8 interactions.
MINTMINT-254473.
STRING9606.ENSP00000384573.

PTM databases

PhosphoSiteQ9NQZ3.

Polymorphism databases

DMDM44887841.

Proteomic databases

PaxDbQ9NQZ3.
PRIDEQ9NQZ3.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000405239; ENSP00000384573; ENSG00000188120.
GeneID1617.
KEGGhsa:1617.
UCSCuc004fvl.3. human.

Organism-specific databases

CTD1617.
GeneCardsGC0YM025275.
GeneReviewsDAZ1.
HGNCHGNC:2682. DAZ1.
HPAHPA047113.
MIM400003. gene.
415000. phenotype.
neXtProtNX_Q9NQZ3.
Orphanet1646. Partial chromosome Y deletion.
PharmGKBPA27149.
GenAtlasSearch...

Phylogenomic databases

eggNOGKOG0118.
HOGENOMHOG000207950.
HOVERGENHBG048860.
InParanoidQ9NQZ3.
OMAYNYQAYS.
OrthoDBEOG7BGHN4.
PhylomeDBQ9NQZ3.
TreeFamTF324396.

Gene expression databases

BgeeQ9NQZ3.
CleanExHS_DAZ1.
GenevestigatorQ9NQZ3.

Family and domain databases

Gene3D3.30.70.330. 5 hits.
InterProIPR012677. Nucleotide-bd_a/b_plait.
IPR000504. RRM_dom.
[Graphical view]
PfamPF00076. RRM_1. 3 hits.
[Graphical view]
SMARTSM00360. RRM. 3 hits.
[Graphical view]
PROSITEPS50102. RRM. 3 hits.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiDAZ1.
GenomeRNAi1617.
NextBio6642.
PROQ9NQZ3.
SOURCESearch...

Entry information

Entry nameDAZ1_HUMAN
AccessionPrimary (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: July 9, 2014
This is version 119 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human chromosome Y

Human chromosome Y: entries, gene names and cross-references to MIM