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Q86SG3

- DAZ4_HUMAN

UniProt

Q86SG3 - DAZ4_HUMAN

Protein

Deleted in azoospermia protein 4

Gene

DAZ4

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 106 (01 Oct 2014)
      Sequence version 2 (01 Mar 2004)
      Previous versions | rss
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    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.

    GO - Molecular functioni

    1. nucleotide binding Source: InterPro
    2. RNA binding Source: UniProtKB-KW

    GO - Biological processi

    1. cell differentiation Source: UniProtKB-KW
    2. multicellular organismal development Source: UniProtKB-KW
    3. 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 4
    Gene namesi
    Name:DAZ4
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome Y

    Organism-specific databases

    HGNCiHGNC:15966. DAZ4.

    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.2 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.
    PharmGKBiPA27152.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 579579Deleted in azoospermia protein 4PRO_0000081557Add
    BLAST

    Proteomic databases

    PRIDEiQ86SG3.

    PTM databases

    PhosphoSiteiQ86SG3.

    Expressioni

    Tissue specificityi

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

    Gene expression databases

    BgeeiQ86SG3.
    CleanExiHS_DAZ4.
    GenevestigatoriQ86SG3.

    Organism-specific databases

    HPAiHPA047113.

    Interactioni

    Subunit structurei

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

    Protein-protein interaction databases

    BioGridi121396. 1 interaction.
    STRINGi9606.ENSP00000371742.

    Structurei

    3D structure databases

    ProteinModelPortaliQ86SG3.
    SMRiQ86SG3. Positions 32-117, 142-286.
    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
    Domaini335 – 35521DAZ-like 1Add
    BLAST
    Domaini359 – 37921DAZ-like 2Add
    BLAST
    Domaini384 – 40421DAZ-like 3Add
    BLAST
    Domaini407 – 42721DAZ-like 4Add
    BLAST
    Domaini431 – 45121DAZ-like 5Add
    BLAST
    Domaini455 – 47521DAZ-like 6Add
    BLAST
    Domaini479 – 49921DAZ-like 7Add
    BLAST
    Domaini503 – 52321DAZ-like 8Add
    BLAST
    Domaini527 – 54721DAZ-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 2 RRM (RNA recognition motif) domains.PROSITE-ProRule annotation

    Keywords - Domaini

    Repeat

    Phylogenomic databases

    HOVERGENiHBG048860.
    InParanoidiQ86SG3.
    OrthoDBiEOG7BGHN4.
    TreeFamiTF324396.

    Family and domain databases

    Gene3Di3.30.70.330. 3 hits.
    InterProiIPR012677. Nucleotide-bd_a/b_plait.
    IPR000504. RRM_dom.
    [Graphical view]
    PfamiPF00076. RRM_1. 2 hits.
    [Graphical view]
    SMARTiSM00360. RRM. 2 hits.
    [Graphical view]
    PROSITEiPS50102. RRM. 2 hits.
    [Graphical view]

    Sequences (2)i

    Sequence statusi: Complete.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q86SG3-1) [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 QAYSAYPHSP GQVITGCQLL 350
    VYNYQEYPTY PDSAFQVTTG YQLPVYNYQP FPAYPRSPFQ VTAGYQLPVY 400
    NYQAFPAYPN SPFQVATGYQ FPVYNYQPFP AYPSSPFQVT AGYQLPVYNY 450
    QAFPAYPNSP FQVATGYQFP VYNYQAFPAY PNSPVQVTTG YQLPVYNYQA 500
    FPAYPSSPFQ VTTGYQLPVY NYQAFPAYPN SAVQVTTGYQ FHVYNYQMPP 550
    QCPVGEQRRN LWTEAYKWWY LVCLIQRRD 579
    Length:579
    Mass (Da):64,785
    Last modified:March 1, 2004 - v2
    Checksum:iBE0537C8DD4E9174
    GO
    Isoform 2 (identifier: Q86SG3-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-165: Missing.
         166-166: Q → M
         486-509: Missing.

    Show »
    Length:390
    Mass (Da):44,085
    Checksum:iA9567AFD5659A9D5
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti238 – 2381T → S in AAF91332. (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 sequencei1 – 165165Missing in isoform 2. 1 PublicationVSP_009454Add
    BLAST
    Alternative sequencei166 – 1661Q → M in isoform 2. 1 PublicationVSP_009455
    Alternative sequencei486 – 50924Missing in isoform 2. 1 PublicationVSP_009456Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF248482 mRNA. Translation: AAF91331.1.
    AF248483 mRNA. Translation: AAF91332.1.
    AC006338 Genomic DNA. No translation available.
    BC047480 mRNA. Translation: AAH47480.1.
    BC047617 mRNA. Translation: AAH47617.1.
    CCDSiCCDS55556.1. [Q86SG3-1]
    CCDS55557.1. [Q86SG3-2]
    RefSeqiNP_001005375.1. NM_001005375.2. [Q86SG3-1]
    NP_065153.1. NM_020420.3. [Q86SG3-2]
    UniGeneiHs.522868.
    Hs.70936.

    Genome annotation databases

    EnsembliENST00000382314; ENSP00000371751; ENSG00000205916. [Q86SG3-2]
    ENST00000440066; ENSP00000401363; ENSG00000205916. [Q86SG3-1]
    ENST00000449750; ENSP00000389300; ENSG00000205916. [Q86SG3-2]
    GeneIDi57135.
    KEGGihsa:57135.
    UCSCiuc004fvm.3. human. [Q86SG3-1]
    uc004fvn.3. human. [Q86SG3-2]

    Polymorphism databases

    DMDMi44887840.

    Keywords - Coding sequence diversityi

    Alternative splicing

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF248482 mRNA. Translation: AAF91331.1 .
    AF248483 mRNA. Translation: AAF91332.1 .
    AC006338 Genomic DNA. No translation available.
    BC047480 mRNA. Translation: AAH47480.1 .
    BC047617 mRNA. Translation: AAH47617.1 .
    CCDSi CCDS55556.1. [Q86SG3-1 ]
    CCDS55557.1. [Q86SG3-2 ]
    RefSeqi NP_001005375.1. NM_001005375.2. [Q86SG3-1 ]
    NP_065153.1. NM_020420.3. [Q86SG3-2 ]
    UniGenei Hs.522868.
    Hs.70936.

    3D structure databases

    ProteinModelPortali Q86SG3.
    SMRi Q86SG3. Positions 32-117, 142-286.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 121396. 1 interaction.
    STRINGi 9606.ENSP00000371742.

    PTM databases

    PhosphoSitei Q86SG3.

    Polymorphism databases

    DMDMi 44887840.

    Proteomic databases

    PRIDEi Q86SG3.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000382314 ; ENSP00000371751 ; ENSG00000205916 . [Q86SG3-2 ]
    ENST00000440066 ; ENSP00000401363 ; ENSG00000205916 . [Q86SG3-1 ]
    ENST00000449750 ; ENSP00000389300 ; ENSG00000205916 . [Q86SG3-2 ]
    GeneIDi 57135.
    KEGGi hsa:57135.
    UCSCi uc004fvm.3. human. [Q86SG3-1 ]
    uc004fvn.3. human. [Q86SG3-2 ]

    Organism-specific databases

    CTDi 57135.
    GeneCardsi GC0YP026979.
    HGNCi HGNC:15966. DAZ4.
    HPAi HPA047113.
    MIMi 400003. gene.
    415000. phenotype.
    neXtProti NX_Q86SG3.
    Orphaneti 1646. Partial chromosome Y deletion.
    PharmGKBi PA27152.
    GenAtlasi Search...

    Phylogenomic databases

    HOVERGENi HBG048860.
    InParanoidi Q86SG3.
    OrthoDBi EOG7BGHN4.
    TreeFami TF324396.

    Miscellaneous databases

    ChiTaRSi DAZ4. human.
    NextBioi 63055.
    PROi Q86SG3.
    SOURCEi Search...

    Gene expression databases

    Bgeei Q86SG3.
    CleanExi HS_DAZ4.
    Genevestigatori Q86SG3.

    Family and domain databases

    Gene3Di 3.30.70.330. 3 hits.
    InterProi IPR012677. Nucleotide-bd_a/b_plait.
    IPR000504. RRM_dom.
    [Graphical view ]
    Pfami PF00076. RRM_1. 2 hits.
    [Graphical view ]
    SMARTi SM00360. RRM. 2 hits.
    [Graphical view ]
    PROSITEi PS50102. RRM. 2 hits.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "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] (ISOFORM 1), GENE STRUCTURE, GENE NOMENCLATURE, TISSUE SPECIFICITY.
      Tissue: Testis.
    2. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    3. "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).
      Tissue: Testis.
    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. "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.

    Entry informationi

    Entry nameiDAZ4_HUMAN
    AccessioniPrimary (citable) accession number: Q86SG3
    Secondary accession number(s): Q9NR88, Q9NR89
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: March 1, 2004
    Last sequence update: March 1, 2004
    Last modified: October 1, 2014
    This is version 106 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