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Q07617

- SPAG1_HUMAN

UniProt

Q07617 - SPAG1_HUMAN

Protein

Sperm-associated antigen 1

Gene

SPAG1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 126 (01 Oct 2014)
      Sequence version 3 (10 Feb 2009)
      Previous versions | rss
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    Functioni

    May play a role in the cytoplasmic assembly of the ciliary dynein arms By similarity. May play a role in fertilization. Binds GTP and has GTPase activity.By similarity2 Publications

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Nucleotide bindingi781 – 7888GTPSequence Analysis

    GO - Molecular functioni

    1. GTP binding Source: UniProtKB-KW
    2. hydrolase activity Source: UniProtKB-KW

    GO - Biological processi

    1. axonemal dynein complex assembly Source: UniProtKB
    2. single fertilization Source: ProtInc

    Keywords - Molecular functioni

    Hydrolase

    Keywords - Biological processi

    Fertilization

    Keywords - Ligandi

    GTP-binding, Nucleotide-binding

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Sperm-associated antigen 1
    Alternative name(s):
    HSD-3.8
    Infertility-related sperm protein Spag-1
    Gene namesi
    Name:SPAG1
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 8

    Organism-specific databases

    HGNCiHGNC:11212. SPAG1.

    Subcellular locationi

    Cytoplasm 2 Publications
    Note: Colocalizes with tubulin.

    GO - Cellular componenti

    1. cytoplasm Source: UniProtKB
    2. microtubule cytoskeleton Source: HPA
    3. nucleus Source: HPA

    Keywords - Cellular componenti

    Cytoplasm

    Pathology & Biotechi

    Involvement in diseasei

    Ciliary dyskinesia, primary, 28 (CILD28) [MIM:615505]: A disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia. Patients may exhibit randomization of left-right body asymmetry and situs inversus, due to dysfunction of monocilia at the embryonic node. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome.
    Note: The disease is caused by mutations affecting the gene represented in this entry.

    Keywords - Diseasei

    Ciliopathy, Primary ciliary dyskinesia

    Organism-specific databases

    MIMi615505. phenotype.
    Orphaneti244. Primary ciliary dyskinesia.
    PharmGKBiPA36049.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 926926Sperm-associated antigen 1PRO_0000106324Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei347 – 3471Phosphoserine1 Publication
    Modified residuei791 – 7911Phosphoserine1 Publication

    Keywords - PTMi

    Phosphoprotein

    Proteomic databases

    MaxQBiQ07617.
    PaxDbiQ07617.
    PRIDEiQ07617.

    PTM databases

    PhosphoSiteiQ07617.

    Expressioni

    Tissue specificityi

    Present in most tissues, including lung, with the strongest expression in brain, colon, kidney, and testis. In sperm and testis, detected in particular in pachytene primary spermatocytes. Up-regulated in pancreatic tumor tissues and not in normal pancreatic tissue.4 Publications

    Gene expression databases

    BgeeiQ07617.
    CleanExiHS_SPAG1.
    GenevestigatoriQ07617.

    Organism-specific databases

    HPAiHPA023748.

    Interactioni

    Protein-protein interaction databases

    BioGridi112556. 4 interactions.
    STRINGi9606.ENSP00000251809.

    Structurei

    3D structure databases

    ProteinModelPortaliQ07617.
    SMRiQ07617. Positions 171-361, 422-565, 621-786.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Repeati209 – 24234TPR 1Add
    BLAST
    Repeati244 – 27532TPR 2Add
    BLAST
    Repeati276 – 30934TPR 3Add
    BLAST
    Repeati445 – 47834TPR 4Add
    BLAST
    Repeati487 – 52034TPR 5Add
    BLAST
    Repeati522 – 55433TPR 6Add
    BLAST
    Repeati623 – 65634TPR 7Add
    BLAST
    Repeati657 – 69034TPR 8Add
    BLAST
    Repeati692 – 72433TPR 9Add
    BLAST

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi422 – 4287Poly-Ala

    Sequence similaritiesi

    Contains 9 TPR repeats.PROSITE-ProRule annotation

    Keywords - Domaini

    Repeat, TPR repeat

    Phylogenomic databases

    eggNOGiCOG0457.
    HOGENOMiHOG000293399.
    HOVERGENiHBG079204.
    InParanoidiQ07617.
    OMAiIEAKMEL.
    OrthoDBiEOG75QR4W.
    PhylomeDBiQ07617.
    TreeFamiTF106251.

    Family and domain databases

    Gene3Di1.25.40.10. 3 hits.
    InterProiIPR025986. RPAP3-like_C.
    IPR013026. TPR-contain_dom.
    IPR011990. TPR-like_helical.
    IPR001440. TPR_1.
    IPR019734. TPR_repeat.
    [Graphical view]
    PfamiPF13877. RPAP3_C. 1 hit.
    PF00515. TPR_1. 4 hits.
    [Graphical view]
    SMARTiSM00028. TPR. 9 hits.
    [Graphical view]
    PROSITEiPS50005. TPR. 8 hits.
    PS50293. TPR_REGION. 4 hits.
    [Graphical view]

    Sequences (2)i

    Sequence statusi: Complete.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q07617-1) [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

    MTTKDYPSLW GFGTTKTFKI PIEHLDFKYI EKCSDVKHLE KILCVLRSGE    50
    EGYYPELTEF CEKHLQALAP ESRALRKDKP AATAASFTAE EWEKIDGDIK 100
    SWVSEIKKEE DKMHFHETET FPAMKDNLPP VRGSNSCLHV GKEKYSKRPT 150
    KKKTPRDYAE WDKFDVEKEC LKIDEDYKEK TVIDKSHLSK IETRIDTAGL 200
    TEKEKDFLAT REKEKGNEAF NSGDYEEAVM YYTRSISALP TVVAYNNRAQ 250
    AEIKLQNWNS AFQDCEKVLE LEPGNVKALL RRATTYKHQN KLREATEDLS 300
    KVLDVEPDND LAKKTLSEVE RDLKNSEAAS ETQTKGKRMV IQEIENSEDE 350
    EGKSGRKHED GGGDKKPAEP AGAARAAQPC VMGNIQKKLT GKAEGGKRPA 400
    RGAPQRGQTP EAGADKRSPR RASAAAAAGG GATGHPGGGQ GAENPAGLKS 450
    QGNELFRSGQ FAEAAGKYSA AIALLEPAGS EIADDLSILY SNRAACYLKE 500
    GNCSGCIQDC NRALELHPFS MKPLLRRAMA YETLEQYGKA YVDYKTVLQI 550
    DCGLQLANDS VNRLSRILME LDGPNWREKL SPIPAVPASV PLQAWHPAKE 600
    MISKQAGDSS SHRQQGITDE KTFKALKEEG NQCVNDKNYK DALSKYSECL 650
    KINNKECAIY TNRALCYLKL CQFEEAKQDC DQALQLADGN VKAFYRRALA 700
    HKGLKNYQKS LIDLNKVILL DPSIIEAKME LEEVTRLLNL KDKTAPFNKE 750
    KERRKIEIQE VNEGKEEPGR PAGEVSMGCL ASEKGGKSSR SPEDPEKLPI 800
    AKPNNAYEFG QIINALSTRK DKEACAHLLA ITAPKDLPMF LSNKLEGDTF 850
    LLLIQSLKNN LIEKDPSLVY QHLLYLSKAE RFKMMLTLIS KGQKELIEQL 900
    FEDLSDTPNN HFTLEDIQAL KRQYEL 926
    Length:926
    Mass (Da):103,639
    Last modified:February 10, 2009 - v3
    Checksum:i947E460842AD9615
    GO
    Isoform 2 (identifier: Q07617-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         366-416: KPAEPAGAAR...GQTPEAGADK → SKIFFLFRLC...FTSQFRSSFS
         417-926: Missing.

    Show »
    Length:416
    Mass (Da):48,031
    Checksum:i369ECA250ED387EE
    GO

    Sequence cautioni

    The sequence AAH55091.1 differs from that shown. Reason: Contaminating sequence. Potential poly-A sequence.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti187 – 1871H → R in AAG23967. (PubMed:11517287)Curated
    Sequence conflicti195 – 1951I → V in BAG51920. (PubMed:14702039)Curated
    Sequence conflicti655 – 6551K → T in AAG23967. (PubMed:11517287)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti331 – 3311E → K.
    Corresponds to variant rs17335870 [ dbSNP | Ensembl ].
    VAR_054324
    Natural varianti777 – 7771M → T.1 Publication
    Corresponds to variant rs6511 [ dbSNP | Ensembl ].
    VAR_054325
    Natural varianti827 – 8271H → Y.
    Corresponds to variant rs6510 [ dbSNP | Ensembl ].
    VAR_054326

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei366 – 41651KPAEP…AGADK → SKIFFLFRLCKKLPFNMMSW LNFSIRTEIRNLSVFLALPC KFTSQFRSSFS in isoform 2. 1 PublicationVSP_054290Add
    BLAST
    Alternative sequencei417 – 926510Missing in isoform 2. 1 PublicationVSP_054291Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF311312 mRNA. Translation: AAG23967.1.
    AK057482 mRNA. Translation: BAG51920.1.
    AC025647 Genomic DNA. No translation available.
    CH471060 Genomic DNA. Translation: EAW91800.1.
    BC055091 mRNA. Translation: AAH55091.1. Sequence problems.
    CCDSiCCDS34930.1. [Q07617-1]
    RefSeqiNP_003105.2. NM_003114.4. [Q07617-1]
    NP_757367.1. NM_172218.2. [Q07617-1]
    XP_006716682.1. XM_006716619.1. [Q07617-1]
    UniGeneiHs.591866.

    Genome annotation databases

    EnsembliENST00000251809; ENSP00000251809; ENSG00000104450. [Q07617-1]
    ENST00000388798; ENSP00000373450; ENSG00000104450. [Q07617-1]
    ENST00000520508; ENSP00000428070; ENSG00000104450. [Q07617-2]
    ENST00000520643; ENSP00000427716; ENSG00000104450. [Q07617-2]
    GeneIDi6674.
    KEGGihsa:6674.
    UCSCiuc003yjg.1. human.
    uc003yjh.2. human. [Q07617-1]

    Polymorphism databases

    DMDMi223634718.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF311312 mRNA. Translation: AAG23967.1 .
    AK057482 mRNA. Translation: BAG51920.1 .
    AC025647 Genomic DNA. No translation available.
    CH471060 Genomic DNA. Translation: EAW91800.1 .
    BC055091 mRNA. Translation: AAH55091.1 . Sequence problems.
    CCDSi CCDS34930.1. [Q07617-1 ]
    RefSeqi NP_003105.2. NM_003114.4. [Q07617-1 ]
    NP_757367.1. NM_172218.2. [Q07617-1 ]
    XP_006716682.1. XM_006716619.1. [Q07617-1 ]
    UniGenei Hs.591866.

    3D structure databases

    ProteinModelPortali Q07617.
    SMRi Q07617. Positions 171-361, 422-565, 621-786.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 112556. 4 interactions.
    STRINGi 9606.ENSP00000251809.

    PTM databases

    PhosphoSitei Q07617.

    Polymorphism databases

    DMDMi 223634718.

    Proteomic databases

    MaxQBi Q07617.
    PaxDbi Q07617.
    PRIDEi Q07617.

    Protocols and materials databases

    DNASUi 6674.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000251809 ; ENSP00000251809 ; ENSG00000104450 . [Q07617-1 ]
    ENST00000388798 ; ENSP00000373450 ; ENSG00000104450 . [Q07617-1 ]
    ENST00000520508 ; ENSP00000428070 ; ENSG00000104450 . [Q07617-2 ]
    ENST00000520643 ; ENSP00000427716 ; ENSG00000104450 . [Q07617-2 ]
    GeneIDi 6674.
    KEGGi hsa:6674.
    UCSCi uc003yjg.1. human.
    uc003yjh.2. human. [Q07617-1 ]

    Organism-specific databases

    CTDi 6674.
    GeneCardsi GC08P101170.
    H-InvDB HIX0201290.
    HGNCi HGNC:11212. SPAG1.
    HPAi HPA023748.
    MIMi 603395. gene.
    615505. phenotype.
    neXtProti NX_Q07617.
    Orphaneti 244. Primary ciliary dyskinesia.
    PharmGKBi PA36049.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG0457.
    HOGENOMi HOG000293399.
    HOVERGENi HBG079204.
    InParanoidi Q07617.
    OMAi IEAKMEL.
    OrthoDBi EOG75QR4W.
    PhylomeDBi Q07617.
    TreeFami TF106251.

    Miscellaneous databases

    GeneWikii SPAG1.
    GenomeRNAii 6674.
    NextBioi 26021.
    PROi Q07617.
    SOURCEi Search...

    Gene expression databases

    Bgeei Q07617.
    CleanExi HS_SPAG1.
    Genevestigatori Q07617.

    Family and domain databases

    Gene3Di 1.25.40.10. 3 hits.
    InterProi IPR025986. RPAP3-like_C.
    IPR013026. TPR-contain_dom.
    IPR011990. TPR-like_helical.
    IPR001440. TPR_1.
    IPR019734. TPR_repeat.
    [Graphical view ]
    Pfami PF13877. RPAP3_C. 1 hit.
    PF00515. TPR_1. 4 hits.
    [Graphical view ]
    SMARTi SM00028. TPR. 9 hits.
    [Graphical view ]
    PROSITEi PS50005. TPR. 8 hits.
    PS50293. TPR_REGION. 4 hits.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Expression and function of the HSD-3.8 gene encoding a testis-specific protein."
      Lin W., Zhou X.F., Zhang M.L., Li Y., Miao S.Y., Wang L.F., Zong S.D., Koide S.S.
      Mol. Hum. Reprod. 7:811-818(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), FUNCTION, SUBCELLULAR LOCATION, TISSUE SPECIFICITY, VARIANT THR-777.
      Tissue: Testis.
    2. "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.
    3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    4. "DNA sequence and analysis of human chromosome 8."
      Nusbaum C., Mikkelsen T.S., Zody M.C., Asakawa S., Taudien S., Garber M., Kodira C.D., Schueler M.G., Shimizu A., Whittaker C.A., Chang J.L., Cuomo C.A., Dewar K., FitzGerald M.G., Yang X., Allen N.R., Anderson S., Asakawa T.
      , Blechschmidt K., Bloom T., Borowsky M.L., Butler J., Cook A., Corum B., DeArellano K., DeCaprio D., Dooley K.T., Dorris L. III, Engels R., Gloeckner G., Hafez N., Hagopian D.S., Hall J.L., Ishikawa S.K., Jaffe D.B., Kamat A., Kudoh J., Lehmann R., Lokitsang T., Macdonald P., Major J.E., Matthews C.D., Mauceli E., Menzel U., Mihalev A.H., Minoshima S., Murayama Y., Naylor J.W., Nicol R., Nguyen C., O'Leary S.B., O'Neill K., Parker S.C.J., Polley A., Raymond C.K., Reichwald K., Rodriguez J., Sasaki T., Schilhabel M., Siddiqui R., Smith C.L., Sneddon T.P., Talamas J.A., Tenzin P., Topham K., Venkataraman V., Wen G., Yamazaki S., Young S.K., Zeng Q., Zimmer A.R., Rosenthal A., Birren B.W., Platzer M., Shimizu N., Lander E.S.
      Nature 439:331-335(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    5. "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] OF 1-153.
      Tissue: Testis.
    6. "Isolation and sequencing of the cDNA encoding the 75-kD human sperm protein related to infertility."
      Zhang M.L., Wang L.F., Miao S.Y., Koide S.S.
      Chin. Med. J. 105:998-1003(1992) [PubMed] [Europe PMC] [Abstract]
      Cited for: PARTIAL NUCLEOTIDE SEQUENCE [MRNA], FUNCTION, TISSUE SPECIFICITY.
    7. Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-347 AND SER-791, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Cervix carcinoma.
    8. "Sperm-associated antigen 1 is expressed early in pancreatic tumorigenesis and promotes motility of cancer cells."
      Neesse A., Gangeswaran R., Luettges J., Feakins R., Weeks M.E., Lemoine N.R., Crnogorac-Jurcevic T.
      Oncogene 26:1533-1545(2007) [PubMed] [Europe PMC] [Abstract]
      Cited for: TISSUE SPECIFICITY, SUBCELLULAR LOCATION.
    9. Cited for: INVOLMENT IN CILD28, TISSUE SPECIFICITY.

    Entry informationi

    Entry nameiSPAG1_HUMAN
    AccessioniPrimary (citable) accession number: Q07617
    Secondary accession number(s): A6NP70
    , B3KQ58, G3XAM3, Q7Z5G1
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: February 1, 2005
    Last sequence update: February 10, 2009
    Last modified: October 1, 2014
    This is version 126 of the entry and version 3 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

    Antibodies against SPAG1 interfere with fertilization.By similarity

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 8
      Human chromosome 8: 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