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Q92904

- DAZL_HUMAN

UniProt

Q92904 - DAZL_HUMAN

Protein

Deleted in azoospermia-like

Gene

DAZL

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 132 (01 Oct 2014)
      Sequence version 1 (01 Feb 1997)
      Previous versions | rss
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    Functioni

    RNA-binding protein, which is essential for gametogenesis in both males and females. Plays a central role during spermatogenesis. Acts by binding to the 3'-UTR of mRNA, specifically recognizing GUU triplets, and thereby regulating the translation of key transcripts By similarity.By similarity

    GO - Molecular functioni

    1. mRNA 3'-UTR binding Source: Ensembl
    2. nucleotide binding Source: InterPro
    3. protein binding Source: UniProtKB
    4. RNA binding Source: ProtInc
    5. translation activator activity Source: UniProtKB

    GO - Biological processi

    1. germ cell development Source: ProtInc
    2. multicellular organismal development Source: UniProtKB-KW
    3. positive regulation of meiosis Source: Ensembl
    4. positive regulation of translational initiation Source: UniProtKB
    5. spermatogenesis Source: UniProtKB-KW

    Keywords - Molecular functioni

    Developmental protein

    Keywords - Biological processi

    Differentiation, Spermatogenesis, Translation regulation

    Keywords - Ligandi

    RNA-binding

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Deleted in azoospermia-like
    Alternative name(s):
    DAZ homolog
    DAZ-like autosomal
    Deleted in azoospermia-like 1
    SPGY-like-autosomal
    Gene namesi
    Name:DAZL
    Synonyms:DAZH, DAZL1, DAZLA, SPGYLA
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 3

    Organism-specific databases

    HGNCiHGNC:2685. DAZL.

    Subcellular locationi

    Cytoplasm By similarity. Nucleus By similarity
    Note: Predominantly cytoplasmic. Nuclear in spermatogonia until near the end of the meiotic prophase and cytoplasmic localization from then onward.By similarity

    GO - Cellular componenti

    1. cytoplasm Source: ProtInc
    2. nucleus Source: UniProtKB-SubCell
    3. polysome Source: Ensembl

    Keywords - Cellular componenti

    Cytoplasm, Nucleus

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA27155.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 295295Deleted in azoospermia-likePRO_0000081559Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei276 – 2761PhosphotyrosineBy similarity

    Keywords - PTMi

    Phosphoprotein

    Proteomic databases

    PaxDbiQ92904.
    PRIDEiQ92904.

    PTM databases

    PhosphoSiteiQ92904.

    Expressioni

    Tissue specificityi

    Testis specific.3 Publications

    Gene expression databases

    ArrayExpressiQ92904.
    BgeeiQ92904.
    CleanExiHS_DAZL.
    GenevestigatoriQ92904.

    Organism-specific databases

    HPAiHPA019593.
    HPA019777.

    Interactioni

    Subunit structurei

    Homodimer and heterodimer. Multiple DAZL RRMs can bind to a single RNA containing multiple GUU triplets By similarity. Forms a heterodimer with DAZ. Interacts with BOLL, DAZAP1 and DAZAP2. Interacts with PUM2.By similarity3 Publications

    Protein-protein interaction databases

    BioGridi107987. 6 interactions.
    IntActiQ92904. 1 interaction.
    STRINGi9606.ENSP00000382373.

    Structurei

    3D structure databases

    ProteinModelPortaliQ92904.
    SMRiQ92904. Positions 32-117.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini40 – 11576RRMPROSITE-ProRule annotationAdd
    BLAST
    Domaini167 – 19024DAZ-likeAdd
    BLAST

    Region

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Regioni80 – 13253HomodimerizationBy similarityAdd
    BLAST

    Domaini

    The DAZ-like domain mediates the interaction with DAZAP1 and DAZAP2.1 Publication

    Sequence similaritiesi

    Belongs to the RRM DAZ family.Curated
    Contains 1 DAZ-like domain.Curated
    Contains 1 RRM (RNA recognition motif) domain.PROSITE-ProRule annotation

    Phylogenomic databases

    eggNOGiNOG260394.
    HOGENOMiHOG000246400.
    HOVERGENiHBG000573.
    OMAiRSYVIPP.
    OrthoDBiEOG7BGHN4.
    PhylomeDBiQ92904.
    TreeFamiTF324396.

    Family and domain databases

    Gene3Di3.30.70.330. 1 hit.
    InterProiIPR012677. Nucleotide-bd_a/b_plait.
    IPR000504. RRM_dom.
    [Graphical view]
    PfamiPF00076. RRM_1. 1 hit.
    [Graphical view]
    SMARTiSM00360. RRM. 1 hit.
    [Graphical view]
    PROSITEiPS50102. RRM. 1 hit.
    [Graphical view]

    Sequences (2)i

    Sequence statusi: Complete.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q92904-1) [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

    MSTANPETPN STISREASTQ SSSAATSQGY ILPEGKIMPN TVFVGGIDVR    50
    MDETEIRSFF ARYGSVKEVK IITDRTGVSK GYGFVSFFND VDVQKIVESQ 100
    INFHGKKLKL GPAIRKQNLC AYHVQPRPLV FNHPPPPQFQ NVWTNPNTET 150
    YMQPTTTMNP ITQYVQAYPT YPNSPVQVIT GYQLPVYNYQ MPPQWPVGEQ 200
    RSYVVPPAYS AVNYHCNEVD PGAEVVPNEC SVHEATPPSG NGPQKKSVDR 250
    SIQTVVSCLF NPENRLRNSV VTQDDYFKDK RVHHFRRSRA MLKSV 295
    Length:295
    Mass (Da):33,178
    Last modified:February 1, 1997 - v1
    Checksum:i21B360739B35B95F
    GO
    Isoform 2 (identifier: Q92904-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-1: M → MAAPSCGGDRKARLTPSLPHE

    Show »
    Length:315
    Mass (Da):35,224
    Checksum:iF4380E654EFB350D
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti3 – 31T → I in AAB63596. (PubMed:8968756)Curated
    Sequence conflicti253 – 2531Q → R in AAB84361. (PubMed:9294855)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti12 – 121T → A Common polymorphism. 1 Publication
    Corresponds to variant rs11710967 [ dbSNP | Ensembl ].
    VAR_017780
    Natural varianti54 – 541T → A May be associated with susceptibility to spermatogenic failure in Asian individuals; this substitution may lead to affect the DAZL transcript stability and prevent its translation. 1 Publication
    VAR_017781
    Natural varianti115 – 1151R → G Severely impaired RNA-binding. 1 Publication
    VAR_069231

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 11M → MAAPSCGGDRKARLTPSLPH E in isoform 2. 2 PublicationsVSP_043208

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    U65918 mRNA. Translation: AAC50813.1.
    U66726 mRNA. Translation: AAB39935.1.
    U66078 mRNA. Translation: AAB63596.1.
    U77476
    , U77467, U77468, U77469, U77470, U77471, U77472, U77473, U77474, U77475 Genomic DNA. Translation: AAB84361.1.
    AK303026 mRNA. Translation: BAG64152.1.
    BX648638 mRNA. Translation: CAI45996.1.
    AC010139 Genomic DNA. No translation available.
    CH471055 Genomic DNA. Translation: EAW64279.1.
    BC027595 mRNA. Translation: AAH27595.1.
    CCDSiCCDS43059.1. [Q92904-1]
    CCDS54556.1. [Q92904-2]
    RefSeqiNP_001177740.1. NM_001190811.1. [Q92904-2]
    NP_001342.2. NM_001351.3. [Q92904-1]
    UniGeneiHs.131179.

    Genome annotation databases

    EnsembliENST00000250863; ENSP00000250863; ENSG00000092345. [Q92904-2]
    ENST00000399444; ENSP00000382373; ENSG00000092345. [Q92904-1]
    GeneIDi1618.
    KEGGihsa:1618.
    UCSCiuc003cba.3. human. [Q92904-2]
    uc003cbb.3. human. [Q92904-1]

    Polymorphism databases

    DMDMi27805453.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    U65918 mRNA. Translation: AAC50813.1 .
    U66726 mRNA. Translation: AAB39935.1 .
    U66078 mRNA. Translation: AAB63596.1 .
    U77476
    , U77467 , U77468 , U77469 , U77470 , U77471 , U77472 , U77473 , U77474 , U77475 Genomic DNA. Translation: AAB84361.1 .
    AK303026 mRNA. Translation: BAG64152.1 .
    BX648638 mRNA. Translation: CAI45996.1 .
    AC010139 Genomic DNA. No translation available.
    CH471055 Genomic DNA. Translation: EAW64279.1 .
    BC027595 mRNA. Translation: AAH27595.1 .
    CCDSi CCDS43059.1. [Q92904-1 ]
    CCDS54556.1. [Q92904-2 ]
    RefSeqi NP_001177740.1. NM_001190811.1. [Q92904-2 ]
    NP_001342.2. NM_001351.3. [Q92904-1 ]
    UniGenei Hs.131179.

    3D structure databases

    ProteinModelPortali Q92904.
    SMRi Q92904. Positions 32-117.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 107987. 6 interactions.
    IntActi Q92904. 1 interaction.
    STRINGi 9606.ENSP00000382373.

    PTM databases

    PhosphoSitei Q92904.

    Polymorphism databases

    DMDMi 27805453.

    Proteomic databases

    PaxDbi Q92904.
    PRIDEi Q92904.

    Protocols and materials databases

    DNASUi 1618.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000250863 ; ENSP00000250863 ; ENSG00000092345 . [Q92904-2 ]
    ENST00000399444 ; ENSP00000382373 ; ENSG00000092345 . [Q92904-1 ]
    GeneIDi 1618.
    KEGGi hsa:1618.
    UCSCi uc003cba.3. human. [Q92904-2 ]
    uc003cbb.3. human. [Q92904-1 ]

    Organism-specific databases

    CTDi 1618.
    GeneCardsi GC03M016603.
    HGNCi HGNC:2685. DAZL.
    HPAi HPA019593.
    HPA019777.
    MIMi 601486. gene.
    neXtProti NX_Q92904.
    PharmGKBi PA27155.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG260394.
    HOGENOMi HOG000246400.
    HOVERGENi HBG000573.
    OMAi RSYVIPP.
    OrthoDBi EOG7BGHN4.
    PhylomeDBi Q92904.
    TreeFami TF324396.

    Miscellaneous databases

    GeneWikii DAZL.
    GenomeRNAii 1618.
    NextBioi 6646.
    PROi Q92904.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q92904.
    Bgeei Q92904.
    CleanExi HS_DAZL.
    Genevestigatori Q92904.

    Family and domain databases

    Gene3Di 3.30.70.330. 1 hit.
    InterProi IPR012677. Nucleotide-bd_a/b_plait.
    IPR000504. RRM_dom.
    [Graphical view ]
    Pfami PF00076. RRM_1. 1 hit.
    [Graphical view ]
    SMARTi SM00360. RRM. 1 hit.
    [Graphical view ]
    PROSITEi PS50102. RRM. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "The DAZ gene cluster on the human Y chromosome arose from an autosomal gene that was transposed, repeatedly amplified and pruned."
      Saxena R., Brown L.G., Hawkins T., Alagappan R.K., Skaletsky H., Reeve M.P., Reijo R.A., Rozen S., Dinulos M.B., Disteche C.M., Page D.C.
      Nat. Genet. 14:292-299(1996) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), TISSUE SPECIFICITY.
      Tissue: Testis.
    2. "A SPGY copy homologous to the mouse gene Dazla and the Drosophila gene boule is autosomal and expressed only in the human male gonad."
      Shan Z., Hirschmann P., Seebacher T., Edelmann A., Jauch A., Morell J., Urbitsch P., Vogt P.H.
      Hum. Mol. Genet. 5:2005-2011(1996) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), TISSUE SPECIFICITY.
      Tissue: Testis.
    3. "The human autosomal gene DAZLA: testis specificity and a candidate for male infertility."
      Yen P.H., Chai N.-N., Salido E.C.
      Hum. Mol. Genet. 5:2013-2017(1996) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), TISSUE SPECIFICITY.
      Tissue: Testis.
    4. "A putative human male infertility gene DAZLA: genomic structure and methylation status."
      Chai N.-N., Phillips A., Fernandez A., Yen P.H.
      Mol. Hum. Reprod. 3:705-708(1997) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORM 1).
    5. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
      Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
      , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
      Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
      Tissue: Testis.
    6. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
      Tissue: Testis.
    7. "The DNA sequence, annotation and analysis of human chromosome 3."
      Muzny D.M., Scherer S.E., Kaul R., Wang J., Yu J., Sudbrak R., Buhay C.J., Chen R., Cree A., Ding Y., Dugan-Rocha S., Gill R., Gunaratne P., Harris R.A., Hawes A.C., Hernandez J., Hodgson A.V., Hume J.
      , Jackson A., Khan Z.M., Kovar-Smith C., Lewis L.R., Lozado R.J., Metzker M.L., Milosavljevic A., Miner G.R., Morgan M.B., Nazareth L.V., Scott G., Sodergren E., Song X.-Z., Steffen D., Wei S., Wheeler D.A., Wright M.W., Worley K.C., Yuan Y., Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M., Brown M.J., Chen G., Chen Z., Clendenning J., Clerc-Blankenburg K.P., Chen R., Chen Z., Davis C., Delgado O., Dinh H.H., Dong W., Draper H., Ernst S., Fu G., Gonzalez-Garay M.L., Garcia D.K., Gillett W., Gu J., Hao B., Haugen E., Havlak P., He X., Hennig S., Hu S., Huang W., Jackson L.R., Jacob L.S., Kelly S.H., Kube M., Levy R., Li Z., Liu B., Liu J., Liu W., Lu J., Maheshwari M., Nguyen B.-V., Okwuonu G.O., Palmeiri A., Pasternak S., Perez L.M., Phelps K.A., Plopper F.J., Qiang B., Raymond C., Rodriguez R., Saenphimmachak C., Santibanez J., Shen H., Shen Y., Subramanian S., Tabor P.E., Verduzco D., Waldron L., Wang J., Wang J., Wang Q., Williams G.A., Wong G.K.-S., Yao Z., Zhang J., Zhang X., Zhao G., Zhou J., Zhou Y., Nelson D., Lehrach H., Reinhardt R., Naylor S.L., Yang H., Olson M., Weinstock G., Gibbs R.A.
      Nature 440:1194-1198(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    8. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    9. "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 1).
      Tissue: Testis.
    10. "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: DOMAIN, INTERACTION WITH DAZAP1 AND DAZAP2.
      Tissue: Testis.
    11. "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.
    12. "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.
    13. "Association of a single-nucleotide polymorphism of the deleted-in-azoospermia-like gene with susceptibility to spermatogenic failure."
      Teng Y.-N., Lin Y.-M., Lin Y.-H., Tsao S.-Y., Hsu C.-C., Lin S.-J., Tsai W.-C., Kuo P.-L.
      J. Clin. Endocrinol. Metab. 87:5258-5264(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS ALA-12 AND ALA-54.
    14. "Kinked beta-strands mediate high-affinity recognition of mRNA targets by the germ-cell regulator DAZL."
      Jenkins H.T., Malkova B., Edwards T.A.
      Proc. Natl. Acad. Sci. U.S.A. 108:18266-18271(2011) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT GLY-115.

    Entry informationi

    Entry nameiDAZL_HUMAN
    AccessioniPrimary (citable) accession number: Q92904
    Secondary accession number(s): O15396, Q5HYB4, Q92909
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: January 17, 2003
    Last sequence update: February 1, 1997
    Last modified: October 1, 2014
    This is version 132 of the entry and version 1 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

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 3
      Human chromosome 3: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    5. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3