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Q8BVN9

- MAEL_MOUSE

UniProt

Q8BVN9 - MAEL_MOUSE

Protein

Protein maelstrom homolog

Gene

Mael

Organism
Mus musculus (Mouse)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 95 (01 Oct 2014)
      Sequence version 1 (01 Mar 2003)
      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. Its association with piP-bodies suggests a participation in the secondary piRNAs metabolic process. Required for the localization of germ-cell factors to the meiotic nuage.2 Publications

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    DNA bindingi4 – 7370HMG boxAdd
    BLAST

    GO - Molecular functioni

    1. DNA binding Source: UniProtKB-KW
    2. protein binding Source: UniProtKB

    GO - Biological processi

    1. cell differentiation Source: UniProtKB-KW
    2. cell morphogenesis Source: MGI
    3. cellular response to DNA damage stimulus Source: MGI
    4. DNA methylation involved in gamete generation Source: UniProtKB
    5. fertilization Source: MGI
    6. gene silencing by RNA Source: UniProtKB
    7. intrinsic apoptotic signaling pathway in response to DNA damage Source: MGI
    8. male meiosis Source: MGI
    9. multicellular organismal development Source: UniProtKB-KW
    10. negative regulation of apoptotic process Source: MGI
    11. negative regulation of gene expression Source: MGI
    12. negative regulation of transcription from RNA polymerase II promoter Source: MGI
    13. piRNA metabolic process Source: UniProtKB
    14. regulation of organ growth Source: MGI
    15. spermatogenesis Source: MGI
    16. synapsis Source: MGI

    Keywords - Molecular functioni

    Developmental protein

    Keywords - Biological processi

    Differentiation, Meiosis, RNA-mediated gene silencing, Spermatogenesis

    Keywords - Ligandi

    DNA-binding

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Protein maelstrom homolog
    Gene namesi
    Name:Mael
    OrganismiMus musculus (Mouse)
    Taxonomic identifieri10090 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaSciurognathiMuroideaMuridaeMurinaeMusMus
    ProteomesiUP000000589: Chromosome 1

    Organism-specific databases

    MGIiMGI:2138453. Mael.

    Subcellular locationi

    Cytoplasm. Nucleus
    Note: Component of the meiotic nuage, also named P granule, a germ-cell-specific organelle required to repress transposon activity during meiosis. Recruited to perinuclear nuage during spermatogenesis. Specifically localizes to piP-bodies, a subset of the nuage which contains secondary piRNAs. PIWIL2 is required for its localization to piP-bodies. PubMed:16787967, reported an association with the nuclear XY body, however, PubMed:18694567 showed that it is not the case because the antibody used by PubMed:16787967 still stains the nuclear XY body in spermatocytes lacking Mael. Moreover other antibodies raized against the same epitope used in PubMed:16787967 do not recognize any epitopes on XY chromosomes but show a clear localization to the meiotic nuage.

    GO - Cellular componenti

    1. autosome Source: MGI
    2. chromatin Source: MGI
    3. chromatoid body Source: MGI
    4. cytoplasm Source: MGI
    5. nucleus Source: MGI
    6. perinuclear region of cytoplasm Source: MGI
    7. P granule Source: MGI
    8. piP-body Source: UniProtKB
    9. XY body Source: UniProtKB

    Keywords - Cellular componenti

    Cytoplasm, Nucleus

    Pathology & Biotechi

    Disruption phenotypei

    Mice are viable but show profound defect in synapsis of homologous chromosomes in male meiosis, piRNA production defects, DNA demethylation of LINE-1 (L1) transposable elements and a 100-fold increase in L1 expression in the adult testis. In the adult testes, L1 transposon derepression occurs at the onset of meiosis. As a result, spermatocytes are flooded with L1 ribonucleoproteins (RNPs) that accumulates in large cytoplasmic enclaves and nuclei. Spermatocytes with nuclear L1 RNPs exhibit massive DNA damage and severe chromosome asynapsis. In gonocytes, PIWIL4, TDRD9, and DDX4 are lost from piP-bodies, whereas no effects on pi-body composition are observed.2 Publications

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 434434Protein maelstrom homologPRO_0000232503Add
    BLAST

    Proteomic databases

    PaxDbiQ8BVN9.
    PRIDEiQ8BVN9.

    PTM databases

    PhosphoSiteiQ8BVN9.

    Expressioni

    Tissue specificityi

    Testis-specific. Present in spermatocytes and round and early elongating spermatids.2 Publications

    Developmental stagei

    Present from 12.5 dpc, although at this stage, protein levels are low. In the male, from 12.5 until 14.5 cpc, it localizes to the cytoplasm of germ cells, but from 15.5-16.5 dpc, it localizes to the nucleus as well. In the female, it is cytoplasmic in germ cells throughout embryonic gonad development (at protein level). In testis, low levels are observed in the early stages of meiotic prophase I (leptonema to midpachynema). Starts to accumulate throughout the cytoplasm and in prominent perinuclear nuage in late pachytene and diplotene spermatocytes. Meiotic metaphases and secondary spermatocytes show a high level in the cytoplasm as well as in nuage. Present in the chromatoid body and in a second smaller nuage in round spermatids (at protein level).1 Publication

    Gene expression databases

    BgeeiQ8BVN9.
    CleanExiMM_MAEL.
    GenevestigatoriQ8BVN9.

    Interactioni

    Subunit structurei

    Interacts with SMARCB1, SIN3B and DDX4. Interacts with piRNA-associated proteins TDRD1, PIWIL1 and PIWIL2.1 Publication

    Protein-protein interaction databases

    BioGridi221084. 6 interactions.
    STRINGi10090.ENSMUSP00000045828.

    Structurei

    3D structure databases

    ProteinModelPortaliQ8BVN9.
    SMRiQ8BVN9. Positions 1-80.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the maelstrom family.Curated
    Contains 1 HMG box DNA-binding domain.Curated

    Phylogenomic databases

    eggNOGiNOG87091.
    GeneTreeiENSGT00390000003645.
    HOGENOMiHOG000113457.
    HOVERGENiHBG081947.
    InParanoidiQ8BVN9.
    OMAiFIHPNPG.
    OrthoDBiEOG7R2BMR.
    PhylomeDBiQ8BVN9.
    TreeFamiTF323573.

    Family and domain databases

    Gene3Di1.10.30.10. 1 hit.
    InterProiIPR009071. HMG_box_dom.
    IPR024970. Maelstrom.
    [Graphical view]
    PfamiPF09011. HMG_box_2. 1 hit.
    PF13017. Maelstrom. 1 hit.
    [Graphical view]
    SUPFAMiSSF47095. SSF47095. 1 hit.

    Sequencei

    Sequence statusi: Complete.

    Q8BVN9-1 [UniParc]FASTAAdd to Basket

    « Hide

    MPNRRASRNA YYFFVQEKIP ELRRRGLPVA RVADAIPYCS ADWALLREDE    50
    KEKYSEMARE WRAAQGKDSG PSEKQKLVST PLRRPGMLVP KPSISPPDMS 100
    NLSIKSDQAL LGGIFYFLNI FSHGELPPHC EQRFLPCEIG CVKYSLQEGI 150
    MADFHSFIHP GEIPRGFRFH CQAASDSSHK IPISNFEFGH DQATVLQNLY 200
    KFIHPNPGNW PPIYCKSDDR ARVNWCLKRM ERASEIRQDL ELLTVEDLVV 250
    GIYQQKFLKE PSKTWVRSLL DVAMWDYSSN TRCKWHEEND ILFCALAVCK 300
    KIAYCISNSL ATLFGIQLTG AHVPLQDYEA SNSVTPKMVV LDAGRYQKLR 350
    VESPGFCHFN SYNQEQRSNT STGYYPSGVK ISGPHSSVRG RGITRLLESI 400
    SNSSNNIHRF SSCETSLSPY TPQKDGYKPF SSFS 434
    Length:434
    Mass (Da):49,371
    Last modified:March 1, 2003 - v1
    Checksum:i3007B0DBBB95415C
    GO

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AK077103 mRNA. Translation: BAC36612.1.
    AK165801 mRNA. Translation: BAE38386.1.
    BC050800 mRNA. Translation: AAH50800.1.
    CCDSiCCDS15448.1.
    RefSeqiNP_780505.1. NM_175296.4.
    UniGeneiMm.26189.

    Genome annotation databases

    EnsembliENSMUST00000038782; ENSMUSP00000045828; ENSMUSG00000040629.
    GeneIDi98558.
    KEGGimmu:98558.
    UCSCiuc007dkk.1. mouse.

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AK077103 mRNA. Translation: BAC36612.1 .
    AK165801 mRNA. Translation: BAE38386.1 .
    BC050800 mRNA. Translation: AAH50800.1 .
    CCDSi CCDS15448.1.
    RefSeqi NP_780505.1. NM_175296.4.
    UniGenei Mm.26189.

    3D structure databases

    ProteinModelPortali Q8BVN9.
    SMRi Q8BVN9. Positions 1-80.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 221084. 6 interactions.
    STRINGi 10090.ENSMUSP00000045828.

    PTM databases

    PhosphoSitei Q8BVN9.

    Proteomic databases

    PaxDbi Q8BVN9.
    PRIDEi Q8BVN9.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENSMUST00000038782 ; ENSMUSP00000045828 ; ENSMUSG00000040629 .
    GeneIDi 98558.
    KEGGi mmu:98558.
    UCSCi uc007dkk.1. mouse.

    Organism-specific databases

    CTDi 84944.
    MGIi MGI:2138453. Mael.

    Phylogenomic databases

    eggNOGi NOG87091.
    GeneTreei ENSGT00390000003645.
    HOGENOMi HOG000113457.
    HOVERGENi HBG081947.
    InParanoidi Q8BVN9.
    OMAi FIHPNPG.
    OrthoDBi EOG7R2BMR.
    PhylomeDBi Q8BVN9.
    TreeFami TF323573.

    Miscellaneous databases

    NextBioi 353532.
    PROi Q8BVN9.
    SOURCEi Search...

    Gene expression databases

    Bgeei Q8BVN9.
    CleanExi MM_MAEL.
    Genevestigatori Q8BVN9.

    Family and domain databases

    Gene3Di 1.10.30.10. 1 hit.
    InterProi IPR009071. HMG_box_dom.
    IPR024970. Maelstrom.
    [Graphical view ]
    Pfami PF09011. HMG_box_2. 1 hit.
    PF13017. Maelstrom. 1 hit.
    [Graphical view ]
    SUPFAMi SSF47095. SSF47095. 1 hit.
    ProtoNeti Search...

    Publicationsi

    1. "The transcriptional landscape of the mammalian genome."
      Carninci P., Kasukawa T., Katayama S., Gough J., Frith M.C., Maeda N., Oyama R., Ravasi T., Lenhard B., Wells C., Kodzius R., Shimokawa K., Bajic V.B., Brenner S.E., Batalov S., Forrest A.R., Zavolan M., Davis M.J.
      , Wilming L.G., Aidinis V., Allen J.E., Ambesi-Impiombato A., Apweiler R., Aturaliya R.N., Bailey T.L., Bansal M., Baxter L., Beisel K.W., Bersano T., Bono H., Chalk A.M., Chiu K.P., Choudhary V., Christoffels A., Clutterbuck D.R., Crowe M.L., Dalla E., Dalrymple B.P., de Bono B., Della Gatta G., di Bernardo D., Down T., Engstrom P., Fagiolini M., Faulkner G., Fletcher C.F., Fukushima T., Furuno M., Futaki S., Gariboldi M., Georgii-Hemming P., Gingeras T.R., Gojobori T., Green R.E., Gustincich S., Harbers M., Hayashi Y., Hensch T.K., Hirokawa N., Hill D., Huminiecki L., Iacono M., Ikeo K., Iwama A., Ishikawa T., Jakt M., Kanapin A., Katoh M., Kawasawa Y., Kelso J., Kitamura H., Kitano H., Kollias G., Krishnan S.P., Kruger A., Kummerfeld S.K., Kurochkin I.V., Lareau L.F., Lazarevic D., Lipovich L., Liu J., Liuni S., McWilliam S., Madan Babu M., Madera M., Marchionni L., Matsuda H., Matsuzawa S., Miki H., Mignone F., Miyake S., Morris K., Mottagui-Tabar S., Mulder N., Nakano N., Nakauchi H., Ng P., Nilsson R., Nishiguchi S., Nishikawa S., Nori F., Ohara O., Okazaki Y., Orlando V., Pang K.C., Pavan W.J., Pavesi G., Pesole G., Petrovsky N., Piazza S., Reed J., Reid J.F., Ring B.Z., Ringwald M., Rost B., Ruan Y., Salzberg S.L., Sandelin A., Schneider C., Schoenbach C., Sekiguchi K., Semple C.A., Seno S., Sessa L., Sheng Y., Shibata Y., Shimada H., Shimada K., Silva D., Sinclair B., Sperling S., Stupka E., Sugiura K., Sultana R., Takenaka Y., Taki K., Tammoja K., Tan S.L., Tang S., Taylor M.S., Tegner J., Teichmann S.A., Ueda H.R., van Nimwegen E., Verardo R., Wei C.L., Yagi K., Yamanishi H., Zabarovsky E., Zhu S., Zimmer A., Hide W., Bult C., Grimmond S.M., Teasdale R.D., Liu E.T., Brusic V., Quackenbush J., Wahlestedt C., Mattick J.S., Hume D.A., Kai C., Sasaki D., Tomaru Y., Fukuda S., Kanamori-Katayama M., Suzuki M., Aoki J., Arakawa T., Iida J., Imamura K., Itoh M., Kato T., Kawaji H., Kawagashira N., Kawashima T., Kojima M., Kondo S., Konno H., Nakano K., Ninomiya N., Nishio T., Okada M., Plessy C., Shibata K., Shiraki T., Suzuki S., Tagami M., Waki K., Watahiki A., Okamura-Oho Y., Suzuki H., Kawai J., Hayashizaki Y.
      Science 309:1559-1563(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
      Strain: C57BL/6J.
      Tissue: Testis.
    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].
      Tissue: Testis.
    3. "Mouse MAELSTROM: the link between meiotic silencing of unsynapsed chromatin and microRNA pathway?"
      Costa Y., Speed R.M., Gautier P., Semple C.A., Maratou K., Turner J.M.A., Cooke H.J.
      Hum. Mol. Genet. 15:2324-2334(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: SUBCELLULAR LOCATION, TISSUE SPECIFICITY, DEVELOPMENTAL STAGE, INTERACTION WITH SMARCB1; SIN3B; DDX4; PIWIL1; PIWIL2 AND TDRD1.
    4. "Mouse maelstrom, a component of nuage, is essential for spermatogenesis and transposon repression in meiosis."
      Soper S.F.C., van der Heijden G.W., Hardiman T.C., Goodheart M., Martin S.L., de Boer P., Bortvin A.
      Dev. Cell 15:285-297(2008) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, SUBCELLULAR LOCATION, TISSUE SPECIFICITY, DISRUPTION PHENOTYPE.
    5. Cited for: FUNCTION, SUBCELLULAR LOCATION, DISRUPTION PHENOTYPE.

    Entry informationi

    Entry nameiMAEL_MOUSE
    AccessioniPrimary (citable) accession number: Q8BVN9
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: April 18, 2006
    Last sequence update: March 1, 2003
    Last modified: October 1, 2014
    This is version 95 of the entry and version 1 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. MGD cross-references
      Mouse Genome Database (MGD) cross-references in UniProtKB/Swiss-Prot
    2. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3