Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Basket 0
(max 400 entries)x

Your basket is currently empty.

Select item(s) and click on "Add to basket" to create your own collection here
(400 entries max)

Q9NQZ3

- DAZ1_HUMAN

UniProt

Q9NQZ3 - DAZ1_HUMAN

Protein

Deleted in azoospermia protein 1

Gene

DAZ1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
    • BLAST
    • Align
    • Format
    • Add to basket
    • History
      Entry version 120 (01 Oct 2014)
      Sequence version 2 (01 Mar 2004)
      Previous versions | rss
    • Help video
    • Feedback
    • Comment

    Functioni

    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.1 Publication

    GO - Molecular functioni

    1. nucleotide binding Source: InterPro
    2. protein binding Source: UniProtKB
    3. RNA binding Source: UniProtKB-KW
    4. translation activator activity Source: UniProtKB

    GO - Biological processi

    1. cell differentiation Source: UniProtKB-KW
    2. multicellular organismal development Source: UniProtKB-KW
    3. positive regulation of translational initiation Source: UniProtKB
    4. spermatogenesis Source: UniProtKB-KW

    Keywords - Molecular functioni

    Developmental protein

    Keywords - Biological processi

    Differentiation, Spermatogenesis

    Keywords - Ligandi

    RNA-binding

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Deleted in azoospermia protein 1
    Gene namesi
    Name:DAZ1
    Synonyms:DAZ, SPGY
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome Y

    Organism-specific databases

    HGNCiHGNC:2682. DAZ1.

    Subcellular locationi

    Cytoplasm 1 Publication. Nucleus 1 Publication
    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.

    GO - Cellular componenti

    1. cytoplasm Source: UniProtKB-SubCell
    2. nucleus Source: UniProtKB-SubCell

    Keywords - Cellular componenti

    Cytoplasm, Nucleus

    Pathology & Biotechi

    Involvement in diseasei

    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.3 Publications
    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.

    Organism-specific databases

    MIMi415000. phenotype.
    Orphaneti1646. Partial chromosome Y deletion.
    PharmGKBiPA27149.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 744744Deleted in azoospermia protein 1PRO_0000081554Add
    BLAST

    Proteomic databases

    PaxDbiQ9NQZ3.
    PRIDEiQ9NQZ3.

    PTM databases

    PhosphoSiteiQ9NQZ3.

    Expressioni

    Tissue specificityi

    Testis-specific. Expression restricted to premeiotic germ cells, particularly in spermatogonia (at protein level).3 Publications

    Gene expression databases

    BgeeiQ9NQZ3.
    CleanExiHS_DAZ1.
    GenevestigatoriQ9NQZ3.

    Organism-specific databases

    HPAiHPA047113.

    Interactioni

    Subunit structurei

    Forms a heterodimer with BOLL and DAZL. Interacts with PUM2, DAZAP1, DAZAP2, DZIP1 and DZIP3.4 Publications

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    PUM2Q8TB725EBI-997955,EBI-311190

    Protein-protein interaction databases

    BioGridi107986. 11 interactions.
    IntActiQ9NQZ3. 8 interactions.
    MINTiMINT-254473.
    STRINGi9606.ENSP00000384573.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9NQZ3.
    SMRiQ9NQZ3. Positions 32-117, 142-286, 307-451.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini40 – 11576RRM 1PROSITE-ProRule annotationAdd
    BLAST
    Domaini205 – 28076RRM 2PROSITE-ProRule annotationAdd
    BLAST
    Domaini370 – 44576RRM 3PROSITE-ProRule annotationAdd
    BLAST
    Domaini500 – 52021DAZ-like 1Add
    BLAST
    Domaini524 – 54421DAZ-like 2Add
    BLAST
    Domaini549 – 56921DAZ-like 3Add
    BLAST
    Domaini572 – 59221DAZ-like 4Add
    BLAST
    Domaini596 – 61621DAZ-like 5Add
    BLAST
    Domaini620 – 64021DAZ-like 6Add
    BLAST
    Domaini644 – 66421DAZ-like 7Add
    BLAST
    Domaini668 – 68821DAZ-like 8Add
    BLAST
    Domaini692 – 71221DAZ-like 9Add
    BLAST

    Domaini

    The DAZ-like repeats are essential and mediate the interaction with DAZAP1 and DAZAP2.

    Sequence similaritiesi

    Belongs to the RRM DAZ family.Curated
    Contains 9 DAZ-like domains.Curated
    Contains 3 RRM (RNA recognition motif) domains.PROSITE-ProRule annotation

    Keywords - Domaini

    Repeat

    Phylogenomic databases

    eggNOGiKOG0118.
    HOGENOMiHOG000207950.
    HOVERGENiHBG048860.
    InParanoidiQ9NQZ3.
    OMAiYNYQAYS.
    OrthoDBiEOG7BGHN4.
    PhylomeDBiQ9NQZ3.
    TreeFamiTF324396.

    Family and domain databases

    Gene3Di3.30.70.330. 5 hits.
    InterProiIPR012677. Nucleotide-bd_a/b_plait.
    IPR000504. RRM_dom.
    [Graphical view]
    PfamiPF00076. RRM_1. 3 hits.
    [Graphical view]
    SMARTiSM00360. RRM. 3 hits.
    [Graphical view]
    PROSITEiPS50102. RRM. 3 hits.
    [Graphical view]

    Sequences (2)i

    Sequence statusi: Complete.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q9NQZ3-1) [UniParc]FASTAAdd to Basket

    This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

    « Hide

    MSAANPETPN STISREASTQ SSSAAASQGW VLPEGKIVPN TVFVGGIDAR    50
    MDETEIGSCF GRYGSVKEVK IITNRTGVSK GYGFVSFVND VDVQKIVGSQ 100
    IHFHGKKLKL GPAIRKQKLC ARHVQPRPLV VNPPPPPQFQ NVWRNPNTET 150
    YLQPQITPNP VTQHVQSAAN PETPNSTISR EASTQSSSAA ASQGWVLPEG 200
    KIVPNTVFVG GIDARMDETE IGSCFGRYGS VKEVKIITNR TGVSKGYGFV 250
    SFVNDVDVQK IVGSQIHFHG KKLKLGPAIR KQKLCARHVQ PRPLVVNPPP 300
    PPQFQNVWRN PNTETYLQPQ ITPNPVTQHV QSAANPETPN STISREASTQ 350
    SSSAAASQGW VLPEGKIVPN TVFVGGIDAR MDETEIGSCF GRYGSVKEVK 400
    IITNRTGVSK GYGFVSFVND VDVQKIVGSQ IHFHGKKLKL GPAIRKQKLC 450
    ARHVQPRPLV VNPPPPPQFQ NVWRNPNTET YLQPQITPNP VTQHVQAYSA 500
    YPHSPGQVIT GCQLLVYNYQ EYPTYPDSAF QVTTGYQLPV YNYQPFPAYP 550
    RSPFQVTAGY QLPVYNYQAF PAYPNSPFQV ATGYQFPVYN YQPFPAYPSS 600
    PFQVTAGYQL PVYNYQAFPA YPNSPFQVAT GYQFPVYNYQ AFPAYPNSPV 650
    QVTTGYQLPV YNYQAFPAYP SSPFQVTTGY QLPVYNYQAF PAYPNSAVQV 700
    TTGYQFHVYN YQMPPQCPVG EQRRNLWTEA YKWWYLVCLI QRRD 744
    Length:744
    Mass (Da):82,764
    Last modified:March 1, 2004 - v2
    Checksum:i341CB19EFC82F757
    GO
    Isoform 2 (identifier: Q9NQZ3-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         589-613: YNYQPFPAYPSSPFQVTAGYQLPVY → CEICKILVLKNAAAFLCHSKVNRSI
         614-744: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:613
    Mass (Da):67,295
    Checksum:iB7BA2C0A1704A86F
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti287 – 2871R → G in AAF91405. (PubMed:10936047)Curated

    Polymorphismi

    The number as well as the precise structure of the DAZ proteins probably differs within the population.

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei589 – 61325YNYQP…QLPVY → CEICKILVLKNAAAFLCHSK VNRSI in isoform 2. 1 PublicationVSP_056239Add
    BLAST
    Alternative sequencei614 – 744131Missing in isoform 2. 1 PublicationVSP_056240Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AC010088 Genomic DNA. No translation available.
    AC053490 Genomic DNA. No translation available.
    AC006338 Genomic DNA. No translation available.
    BC114927 mRNA. Translation: AAI14928.1.
    AF271087 Transcribed RNA. Translation: AAF91405.1.
    AF271088 mRNA. Translation: AAF91406.1.
    CCDSiCCDS48209.1.
    RefSeqiNP_004072.3. NM_004081.5.
    UniGeneiHs.522868.
    Hs.70936.

    Genome annotation databases

    EnsembliENST00000382510; ENSP00000371950; ENSG00000188120.
    ENST00000405239; ENSP00000384573; ENSG00000188120.
    GeneIDi1617.
    KEGGihsa:1617.
    UCSCiuc004fvl.3. human.

    Polymorphism databases

    DMDMi44887841.

    Keywords - Coding sequence diversityi

    Alternative splicing

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AC010088 Genomic DNA. No translation available.
    AC053490 Genomic DNA. No translation available.
    AC006338 Genomic DNA. No translation available.
    BC114927 mRNA. Translation: AAI14928.1 .
    AF271087 Transcribed RNA. Translation: AAF91405.1 .
    AF271088 mRNA. Translation: AAF91406.1 .
    CCDSi CCDS48209.1.
    RefSeqi NP_004072.3. NM_004081.5.
    UniGenei Hs.522868.
    Hs.70936.

    3D structure databases

    ProteinModelPortali Q9NQZ3.
    SMRi Q9NQZ3. Positions 32-117, 142-286, 307-451.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 107986. 11 interactions.
    IntActi Q9NQZ3. 8 interactions.
    MINTi MINT-254473.
    STRINGi 9606.ENSP00000384573.

    PTM databases

    PhosphoSitei Q9NQZ3.

    Polymorphism databases

    DMDMi 44887841.

    Proteomic databases

    PaxDbi Q9NQZ3.
    PRIDEi Q9NQZ3.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000382510 ; ENSP00000371950 ; ENSG00000188120 .
    ENST00000405239 ; ENSP00000384573 ; ENSG00000188120 .
    GeneIDi 1617.
    KEGGi hsa:1617.
    UCSCi uc004fvl.3. human.

    Organism-specific databases

    CTDi 1617.
    GeneCardsi GC0YM025275.
    GeneReviewsi DAZ1.
    HGNCi HGNC:2682. DAZ1.
    HPAi HPA047113.
    MIMi 400003. gene.
    415000. phenotype.
    neXtProti NX_Q9NQZ3.
    Orphaneti 1646. Partial chromosome Y deletion.
    PharmGKBi PA27149.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi KOG0118.
    HOGENOMi HOG000207950.
    HOVERGENi HBG048860.
    InParanoidi Q9NQZ3.
    OMAi YNYQAYS.
    OrthoDBi EOG7BGHN4.
    PhylomeDBi Q9NQZ3.
    TreeFami TF324396.

    Miscellaneous databases

    GeneWikii DAZ1.
    GenomeRNAii 1617.
    NextBioi 6642.
    PROi Q9NQZ3.
    SOURCEi Search...

    Gene expression databases

    Bgeei Q9NQZ3.
    CleanExi HS_DAZ1.
    Genevestigatori Q9NQZ3.

    Family and domain databases

    Gene3Di 3.30.70.330. 5 hits.
    InterProi IPR012677. Nucleotide-bd_a/b_plait.
    IPR000504. RRM_dom.
    [Graphical view ]
    Pfami PF00076. RRM_1. 3 hits.
    [Graphical view ]
    SMARTi SM00360. RRM. 3 hits.
    [Graphical view ]
    PROSITEi PS50102. RRM. 3 hits.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    2. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
    3. "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 (ISOFORM 1), GENE STRUCTURE, GENE NOMENCLATURE, TISSUE SPECIFICITY.
    4. "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.
    5. "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.
    6. "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.
    7. "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.
    8. "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.
    9. "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.
    10. "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.
    11. Cited for: INVOLVEMENT IN SPGFY2.
    12. Cited for: INVOLVEMENT IN SPGFY2.
    13. "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.
    14. "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.
    15. "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.
    16. "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.

    Entry informationi

    Entry nameiDAZ1_HUMAN
    AccessioniPrimary (citable) accession number: Q9NQZ3
    Secondary accession number(s): Q1RMF9, Q9NQZ4
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: March 1, 2004
    Last sequence update: March 1, 2004
    Last modified: October 1, 2014
    This is version 120 of the entry and version 2 of the sequence. [Complete history]
    Entry statusiReviewed (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.

    Miscellaneousi

    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.

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome Y
      Human chromosome Y: entries, gene names and cross-references to MIM
    2. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    3. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3