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Q7Z3Z4

- PIWL4_HUMAN

UniProt

Q7Z3Z4 - PIWL4_HUMAN

Protein

Piwi-like protein 4

Gene

PIWIL4

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at transcript leveli
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    • History
      Entry version 97 (01 Oct 2014)
      Sequence version 2 (17 Oct 2006)
      Previous versions | rss
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    Functioni

    Plays a central role during spermatogenesis by repressing transposable elements and preventing their mobilization, which is essential for the germline integrity. Acts via the piRNA metabolic process, which mediates the repression of transposable elements during meiosis by forming complexes composed of piRNAs and Piwi proteins and governs the methylation and subsequent repression of transposons. Directly binds piRNAs, a class of 24 to 30 nucleotide RNAs that are generated by a Dicer-independent mechanism and are primarily derived from transposons and other repeated sequence elements. Associates with secondary piRNAs antisense and PIWIL2/MILI is required for such association. The piRNA process acts upstream of known mediators of DNA methylation. Participates in a piRNA amplification loop. Besides their function in transposable elements repression, piRNAs are probably involved in other processes during meiosis such as translation regulation By similarity. May be involved in the chromatin-modifying pathway by inducing 'Lys-9' methylation of histone H3 at some loci.By similarity1 Publication

    GO - Molecular functioni

    1. piRNA binding Source: UniProtKB

    GO - Biological processi

    1. cell differentiation Source: UniProtKB-KW
    2. DNA methylation involved in gamete generation Source: UniProtKB
    3. gene silencing by RNA Source: UniProtKB
    4. meiotic nuclear division Source: UniProtKB-KW
    5. multicellular organismal development Source: UniProtKB-KW
    6. piRNA metabolic process Source: UniProtKB
    7. regulation of translation Source: UniProtKB-KW
    8. spermatogenesis Source: UniProtKB

    Keywords - Molecular functioni

    Developmental protein

    Keywords - Biological processi

    Differentiation, Meiosis, RNA-mediated gene silencing, Spermatogenesis, Translation regulation

    Keywords - Ligandi

    RNA-binding

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Piwi-like protein 4
    Gene namesi
    Name:PIWIL4
    Synonyms:HIWI2, PIWI
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 11

    Organism-specific databases

    HGNCiHGNC:18444. PIWIL4.

    Subcellular locationi

    Nucleus By similarity. Cytoplasm By similarity
    Note: Probable component of the meiotic nuage, also named P granule, a germ-cell-specific organelle required to repress transposon activity during meiosis. PIWIL2/MILI is required for nuclear localization By similarity.By similarity

    GO - Cellular componenti

    1. cytoplasm Source: UniProtKB
    2. nucleus Source: UniProtKB
    3. P granule Source: UniProtKB
    4. piP-body Source: UniProtKB

    Keywords - Cellular componenti

    Cytoplasm, Nucleus

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA38333.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 852852Piwi-like protein 4PRO_0000234572Add
    BLAST

    Post-translational modificationi

    Arginine methylation by PRMT5 is required for the interaction with Tudor domain-containing protein (TDRD1, TDRKH/TDRD2 and TDRD9) and subsequent localization to the meiotic nuage, also named P granule.By similarity

    Keywords - PTMi

    Methylation

    Proteomic databases

    PaxDbiQ7Z3Z4.
    PRIDEiQ7Z3Z4.

    PTM databases

    PhosphoSiteiQ7Z3Z4.

    Expressioni

    Tissue specificityi

    Expressed in testis. According to PubMed:17544373, it is ubiquitously expressed.1 Publication

    Gene expression databases

    ArrayExpressiQ7Z3Z4.
    BgeeiQ7Z3Z4.
    CleanExiHS_PIWIL4.
    GenevestigatoriQ7Z3Z4.

    Organism-specific databases

    HPAiHPA036588.

    Interactioni

    Subunit structurei

    Interacts with PRMT5 and WDR77. Interacts (when methylated on arginine residues) with TDRD1, TDRKH/TDRD2 and TDRD9 By similarity.By similarity

    Protein-protein interaction databases

    BioGridi126818. 3 interactions.
    IntActiQ7Z3Z4. 14 interactions.
    STRINGi9606.ENSP00000299001.

    Structurei

    3D structure databases

    ProteinModelPortaliQ7Z3Z4.
    SMRiQ7Z3Z4. Positions 100-831.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini268 – 384117PAZPROSITE-ProRule annotationAdd
    BLAST
    Domaini546 – 838293PiwiPROSITE-ProRule annotationAdd
    BLAST

    Sequence similaritiesi

    Belongs to the argonaute family. Piwi subfamily.Curated
    Contains 1 PAZ domain.PROSITE-ProRule annotation
    Contains 1 Piwi domain.PROSITE-ProRule annotation

    Phylogenomic databases

    eggNOGiNOG286051.
    HOGENOMiHOG000254789.
    HOVERGENiHBG049411.
    InParanoidiQ7Z3Z4.
    KOiK02156.
    OMAiTSDFQLM.
    OrthoDBiEOG712TVQ.
    PhylomeDBiQ7Z3Z4.
    TreeFamiTF354206.

    Family and domain databases

    Gene3Di3.30.420.10. 1 hit.
    InterProiIPR003100. PAZ_dom.
    IPR003165. Piwi.
    IPR012337. RNaseH-like_dom.
    [Graphical view]
    PfamiPF02170. PAZ. 1 hit.
    PF02171. Piwi. 1 hit.
    [Graphical view]
    SMARTiSM00949. PAZ. 1 hit.
    SM00950. Piwi. 1 hit.
    [Graphical view]
    SUPFAMiSSF101690. SSF101690. 1 hit.
    SSF53098. SSF53098. 1 hit.
    PROSITEiPS50821. PAZ. 1 hit.
    PS50822. PIWI. 1 hit.
    [Graphical view]

    Sequences (3)i

    Sequence statusi: Complete.

    This entry describes 3 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q7Z3Z4-1) [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

    MSGRARVKAR GIARSPSATE VGRIQASPLP RSVDLSNNEA SSSNGFLGTS    50
    RISTNDKYGI SSGDAGSTFM ERGVKNKQDF MDLSICTREK LAHVRNCKTG 100
    SSGIPVKLVT NLFNLDFPQD WQLYQYHVTY IPDLASRRLR IALLYSHSEL 150
    SNKAKAFDGA ILFLSQKLEE KVTELSSETQ RGETIKMTIT LKRELPSSSP 200
    VCIQVFNIIF RKILKKLSMY QIGRNFYNPS EPMEIPQHKL SLWPGFAISV 250
    SYFERKLLFS ADVSYKVLRN ETVLEFMTAL CQRTGLSCFT QTCEKQLIGL 300
    IVLTRYNNRT YSIDDIDWSV KPTHTFQKRD GTEITYVDYY KQQYDITVSD 350
    LNQPMLVSLL KKKRNDNSEA QLAHLIPELC FLTGLTDQAT SDFQLMKAVA 400
    EKTRLSPSGR QQRLARLVDN IQRNTNARFE LETWGLHFGS QISLTGRIVP 450
    SEKILMQDHI CQPVSAADWS KDIRTCKILN AQSLNTWLIL CSDRTEYVAE 500
    SFLNCLRRVA GSMGFNVDYP KIIKVQENPA AFVRAIQQYV DPDVQLVMCI 550
    LPSNQKTYYD SIKKYLSSDC PVPSQCVLAR TLNKQGMMMS IATKIAMQMT 600
    CKLGGELWAV EIPLKSLMVV GIDVCKDALS KDVMVVGCVA SVNPRITRWF 650
    SRCILQRTMT DVADCLKVFM TGALNKWYKY NHDLPARIIV YRAGVGDGQL 700
    KTLIEYEVPQ LLSSVAESSS NTSSRLSVIV VRKKCMPRFF TEMNRTVQNP 750
    PLGTVVDSEA TRNEWYDFYL ISQVACRGTV SPTYYNVIYD DNGLKPDHMQ 800
    RLTFKLCHLY YNWPGIVSVP APCQYAHKLT FLVAQSIHKE PSLELANHLF 850
    YL 852
    Length:852
    Mass (Da):96,589
    Last modified:October 17, 2006 - v2
    Checksum:i37769EE078B96D13
    GO
    Isoform 2 (identifier: Q7Z3Z4-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-29: MSGRARVKARGIARSPSATEVGRIQASPL → MG
         522-522: I → M
         523-852: Missing.

    Show »
    Length:495
    Mass (Da):56,442
    Checksum:i41496B6996BF9BA3
    GO
    Isoform 3 (identifier: Q7Z3Z4-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-69: Missing.
         522-522: I → M
         523-852: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:453
    Mass (Da):52,174
    Checksum:i24A10ED388F6BD36
    GO

    Sequence cautioni

    The sequence CAH18436.1 differs from that shown. Reason: Frameshift at position 454.
    The sequence BAC04873.1 differs from that shown. Reason: Erroneous initiation.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti99 – 991T → A in BAC81341. (PubMed:12906857)Curated
    Sequence conflicti153 – 1531K → E in BAC04179. (PubMed:14702039)Curated
    Sequence conflicti510 – 5101A → T in BAC04873. (PubMed:14702039)Curated
    Sequence conflicti701 – 7011K → E in BAC04179. (PubMed:14702039)Curated
    Sequence conflicti719 – 7191S → G in BAC04179. (PubMed:14702039)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti78 – 781Q → R.
    Corresponds to variant rs12276921 [ dbSNP | Ensembl ].
    VAR_028367
    Natural varianti167 – 1671K → R.
    Corresponds to variant rs12272255 [ dbSNP | Ensembl ].
    VAR_055533
    Natural varianti327 – 3271Q → L.1 Publication
    Corresponds to variant rs11020845 [ dbSNP | Ensembl ].
    VAR_026291
    Natural varianti370 – 3701A → P.1 Publication
    Corresponds to variant rs57607909 [ dbSNP | Ensembl ].
    VAR_061025

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 6969Missing in isoform 3. 1 PublicationVSP_036665Add
    BLAST
    Alternative sequencei1 – 2929MSGRA…QASPL → MG in isoform 2. 1 PublicationVSP_021031Add
    BLAST
    Alternative sequencei522 – 5221I → M in isoform 2 and isoform 3. 2 PublicationsVSP_021032
    Alternative sequencei523 – 852330Missing in isoform 2 and isoform 3. 2 PublicationsVSP_021033Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AB079366 mRNA. Translation: BAC81341.1.
    AK093475 mRNA. Translation: BAC04179.1.
    AK096837 mRNA. Translation: BAC04873.1. Different initiation.
    AK293616 mRNA. Translation: BAG57076.1.
    CR749642 mRNA. Translation: CAH18436.1. Frameshift.
    BC031060 mRNA. Translation: AAH31060.1.
    CCDSiCCDS31656.1. [Q7Z3Z4-1]
    RefSeqiNP_689644.2. NM_152431.2. [Q7Z3Z4-1]
    UniGeneiHs.660188.

    Genome annotation databases

    EnsembliENST00000299001; ENSP00000299001; ENSG00000134627. [Q7Z3Z4-1]
    ENST00000446230; ENSP00000413838; ENSG00000134627. [Q7Z3Z4-2]
    ENST00000543336; ENSP00000444575; ENSG00000134627. [Q7Z3Z4-3]
    GeneIDi143689.
    KEGGihsa:143689.
    UCSCiuc001pfa.3. human. [Q7Z3Z4-1]

    Polymorphism databases

    DMDMi116242716.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AB079366 mRNA. Translation: BAC81341.1 .
    AK093475 mRNA. Translation: BAC04179.1 .
    AK096837 mRNA. Translation: BAC04873.1 . Different initiation.
    AK293616 mRNA. Translation: BAG57076.1 .
    CR749642 mRNA. Translation: CAH18436.1 . Frameshift.
    BC031060 mRNA. Translation: AAH31060.1 .
    CCDSi CCDS31656.1. [Q7Z3Z4-1 ]
    RefSeqi NP_689644.2. NM_152431.2. [Q7Z3Z4-1 ]
    UniGenei Hs.660188.

    3D structure databases

    ProteinModelPortali Q7Z3Z4.
    SMRi Q7Z3Z4. Positions 100-831.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 126818. 3 interactions.
    IntActi Q7Z3Z4. 14 interactions.
    STRINGi 9606.ENSP00000299001.

    PTM databases

    PhosphoSitei Q7Z3Z4.

    Polymorphism databases

    DMDMi 116242716.

    Proteomic databases

    PaxDbi Q7Z3Z4.
    PRIDEi Q7Z3Z4.

    Protocols and materials databases

    DNASUi 143689.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000299001 ; ENSP00000299001 ; ENSG00000134627 . [Q7Z3Z4-1 ]
    ENST00000446230 ; ENSP00000413838 ; ENSG00000134627 . [Q7Z3Z4-2 ]
    ENST00000543336 ; ENSP00000444575 ; ENSG00000134627 . [Q7Z3Z4-3 ]
    GeneIDi 143689.
    KEGGi hsa:143689.
    UCSCi uc001pfa.3. human. [Q7Z3Z4-1 ]

    Organism-specific databases

    CTDi 143689.
    GeneCardsi GC11P094278.
    H-InvDB HIX0079403.
    HGNCi HGNC:18444. PIWIL4.
    HPAi HPA036588.
    MIMi 610315. gene.
    neXtProti NX_Q7Z3Z4.
    PharmGKBi PA38333.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG286051.
    HOGENOMi HOG000254789.
    HOVERGENi HBG049411.
    InParanoidi Q7Z3Z4.
    KOi K02156.
    OMAi TSDFQLM.
    OrthoDBi EOG712TVQ.
    PhylomeDBi Q7Z3Z4.
    TreeFami TF354206.

    Miscellaneous databases

    ChiTaRSi PIWIL4. human.
    GenomeRNAii 143689.
    NextBioi 84780.
    PROi Q7Z3Z4.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q7Z3Z4.
    Bgeei Q7Z3Z4.
    CleanExi HS_PIWIL4.
    Genevestigatori Q7Z3Z4.

    Family and domain databases

    Gene3Di 3.30.420.10. 1 hit.
    InterProi IPR003100. PAZ_dom.
    IPR003165. Piwi.
    IPR012337. RNaseH-like_dom.
    [Graphical view ]
    Pfami PF02170. PAZ. 1 hit.
    PF02171. Piwi. 1 hit.
    [Graphical view ]
    SMARTi SM00949. PAZ. 1 hit.
    SM00950. Piwi. 1 hit.
    [Graphical view ]
    SUPFAMi SSF101690. SSF101690. 1 hit.
    SSF53098. SSF53098. 1 hit.
    PROSITEi PS50821. PAZ. 1 hit.
    PS50822. PIWI. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Identification of eight members of the Argonaute family in the human genome."
      Sasaki T., Shiohama A., Minoshima S., Shimizu N.
      Genomics 82:323-330(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), FUNCTION.
    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] (ISOFORMS 1 AND 3), VARIANTS LEU-327 AND PRO-370.
      Tissue: Cerebellum and Testis.
    3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
      Tissue: Salivary gland.
    4. "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.
    5. Cited for: POSSIBLE FUNCTION, TISSUE SPECIFICITY.

    Entry informationi

    Entry nameiPIWL4_HUMAN
    AccessioniPrimary (citable) accession number: Q7Z3Z4
    Secondary accession number(s): B4DEG5
    , Q68CZ4, Q8N8G9, Q8N9V8, Q8NEH2
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: May 16, 2006
    Last sequence update: October 17, 2006
    Last modified: October 1, 2014
    This is version 97 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

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 11
      Human chromosome 11: 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