MAEL_MOUSE
ID MAEL_MOUSE Reviewed; 434 AA.
AC Q8BVN9;
DT 18-APR-2006, integrated into UniProtKB/Swiss-Prot.
DT 01-MAR-2003, sequence version 1.
DT 03-AUG-2022, entry version 139.
DE RecName: Full=Protein maelstrom homolog {ECO:0000305};
GN Name=Mael {ECO:0000312|MGI:MGI:2138453};
OS Mus musculus (Mouse).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae;
OC Murinae; Mus; Mus.
OX NCBI_TaxID=10090;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC STRAIN=C57BL/6J; TISSUE=Testis;
RX PubMed=16141072; DOI=10.1126/science.1112014;
RA Carninci P., Kasukawa T., Katayama S., Gough J., Frith M.C., Maeda N.,
RA Oyama R., Ravasi T., Lenhard B., Wells C., Kodzius R., Shimokawa K.,
RA Bajic V.B., Brenner S.E., Batalov S., Forrest A.R., Zavolan M., Davis M.J.,
RA Wilming L.G., Aidinis V., Allen J.E., Ambesi-Impiombato A., Apweiler R.,
RA Aturaliya R.N., Bailey T.L., Bansal M., Baxter L., Beisel K.W., Bersano T.,
RA Bono H., Chalk A.M., Chiu K.P., Choudhary V., Christoffels A.,
RA Clutterbuck D.R., Crowe M.L., Dalla E., Dalrymple B.P., de Bono B.,
RA Della Gatta G., di Bernardo D., Down T., Engstrom P., Fagiolini M.,
RA Faulkner G., Fletcher C.F., Fukushima T., Furuno M., Futaki S.,
RA Gariboldi M., Georgii-Hemming P., Gingeras T.R., Gojobori T., Green R.E.,
RA Gustincich S., Harbers M., Hayashi Y., Hensch T.K., Hirokawa N., Hill D.,
RA Huminiecki L., Iacono M., Ikeo K., Iwama A., Ishikawa T., Jakt M.,
RA Kanapin A., Katoh M., Kawasawa Y., Kelso J., Kitamura H., Kitano H.,
RA Kollias G., Krishnan S.P., Kruger A., Kummerfeld S.K., Kurochkin I.V.,
RA Lareau L.F., Lazarevic D., Lipovich L., Liu J., Liuni S., McWilliam S.,
RA Madan Babu M., Madera M., Marchionni L., Matsuda H., Matsuzawa S., Miki H.,
RA Mignone F., Miyake S., Morris K., Mottagui-Tabar S., Mulder N., Nakano N.,
RA Nakauchi H., Ng P., Nilsson R., Nishiguchi S., Nishikawa S., Nori F.,
RA Ohara O., Okazaki Y., Orlando V., Pang K.C., Pavan W.J., Pavesi G.,
RA Pesole G., Petrovsky N., Piazza S., Reed J., Reid J.F., Ring B.Z.,
RA Ringwald M., Rost B., Ruan Y., Salzberg S.L., Sandelin A., Schneider C.,
RA Schoenbach C., Sekiguchi K., Semple C.A., Seno S., Sessa L., Sheng Y.,
RA Shibata Y., Shimada H., Shimada K., Silva D., Sinclair B., Sperling S.,
RA Stupka E., Sugiura K., Sultana R., Takenaka Y., Taki K., Tammoja K.,
RA Tan S.L., Tang S., Taylor M.S., Tegner J., Teichmann S.A., Ueda H.R.,
RA van Nimwegen E., Verardo R., Wei C.L., Yagi K., Yamanishi H.,
RA Zabarovsky E., Zhu S., Zimmer A., Hide W., Bult C., Grimmond S.M.,
RA Teasdale R.D., Liu E.T., Brusic V., Quackenbush J., Wahlestedt C.,
RA Mattick J.S., Hume D.A., Kai C., Sasaki D., Tomaru Y., Fukuda S.,
RA Kanamori-Katayama M., Suzuki M., Aoki J., Arakawa T., Iida J., Imamura K.,
RA Itoh M., Kato T., Kawaji H., Kawagashira N., Kawashima T., Kojima M.,
RA Kondo S., Konno H., Nakano K., Ninomiya N., Nishio T., Okada M., Plessy C.,
RA Shibata K., Shiraki T., Suzuki S., Tagami M., Waki K., Watahiki A.,
RA Okamura-Oho Y., Suzuki H., Kawai J., Hayashizaki Y.;
RT "The transcriptional landscape of the mammalian genome.";
RL Science 309:1559-1563(2005).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Testis;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [3]
RP SUBCELLULAR LOCATION, TISSUE SPECIFICITY, DEVELOPMENTAL STAGE, AND
RP INTERACTION WITH SMARCB1; SIN3B; DDX4; PIWIL1; PIWIL2 AND TDRD1.
RX PubMed=16787967; DOI=10.1093/hmg/ddl158;
RA Costa Y., Speed R.M., Gautier P., Semple C.A., Maratou K., Turner J.M.A.,
RA Cooke H.J.;
RT "Mouse MAELSTROM: the link between meiotic silencing of unsynapsed
RT chromatin and microRNA pathway?";
RL Hum. Mol. Genet. 15:2324-2334(2006).
RN [4]
RP FUNCTION, SUBCELLULAR LOCATION, TISSUE SPECIFICITY, AND DISRUPTION
RP PHENOTYPE.
RX PubMed=18694567; DOI=10.1016/j.devcel.2008.05.015;
RA Soper S.F.C., van der Heijden G.W., Hardiman T.C., Goodheart M.,
RA Martin S.L., de Boer P., Bortvin A.;
RT "Mouse maelstrom, a component of nuage, is essential for spermatogenesis
RT and transposon repression in meiosis.";
RL Dev. Cell 15:285-297(2008).
RN [5]
RP FUNCTION, SUBCELLULAR LOCATION, AND DISRUPTION PHENOTYPE.
RX PubMed=20011505; DOI=10.1371/journal.pgen.1000764;
RA Aravin A.A., van der Heijden G.W., Castaneda J., Vagin V.V., Hannon G.J.,
RA Bortvin A.;
RT "Cytoplasmic compartmentalization of the fetal piRNA pathway in mice.";
RL PLoS Genet. 5:E1000764-E1000764(2009).
RN [6]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Testis;
RX PubMed=21183079; DOI=10.1016/j.cell.2010.12.001;
RA Huttlin E.L., Jedrychowski M.P., Elias J.E., Goswami T., Rad R.,
RA Beausoleil S.A., Villen J., Haas W., Sowa M.E., Gygi S.P.;
RT "A tissue-specific atlas of mouse protein phosphorylation and expression.";
RL Cell 143:1174-1189(2010).
RN [7]
RP INTERACTION WITH TEX19.1.
RX PubMed=28254886; DOI=10.1242/jcs.188763;
RA Tarabay Y., Achour M., Teletin M., Ye T., Teissandier A., Mark M.,
RA Bourc'his D., Viville S.;
RT "Tex19 paralogs are new members of the piRNA pathway controlling
RT retrotransposon suppression.";
RL J. Cell Sci. 130:1463-1474(2017).
CC -!- FUNCTION: Plays a central role during spermatogenesis by repressing
CC transposable elements and preventing their mobilization, which is
CC essential for the germline integrity. Acts via the piRNA metabolic
CC process, which mediates the repression of transposable elements during
CC meiosis by forming complexes composed of piRNAs and Piwi proteins and
CC governs the methylation and subsequent repression of transposons. Its
CC association with piP-bodies suggests a participation in the secondary
CC piRNAs metabolic process. Required for the localization of germ-cell
CC factors to the meiotic nuage. {ECO:0000269|PubMed:18694567,
CC ECO:0000269|PubMed:20011505}.
CC -!- SUBUNIT: Interacts with SMARCB1, SIN3B and DDX4. Interacts with piRNA-
CC associated proteins TDRD1, PIWIL1 and PIWIL2. Interacts with Tex19.1
CC and, probably, Tex19.2 (PubMed:28254886). {ECO:0000269|PubMed:16787967,
CC ECO:0000269|PubMed:28254886}.
CC -!- SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:18694567,
CC ECO:0000269|PubMed:20011505}. Nucleus {ECO:0000269|PubMed:16787967,
CC ECO:0000269|PubMed:18694567}. Note=Component of the meiotic nuage, also
CC named P granule, a germ-cell-specific organelle required to repress
CC transposon activity during meiosis. Recruited to perinuclear nuage
CC during spermatogenesis. Specifically localizes to piP-bodies, a subset
CC of the nuage which contains secondary piRNAs. PIWIL2 is required for
CC its localization to piP-bodies. PubMed:16787967, reported an
CC association with the nuclear XY body, however, PubMed:18694567 showed
CC that it is not the case because the antibody used by PubMed:16787967
CC still stains the nuclear XY body in spermatocytes lacking Mael.
CC Moreover other antibodies raized against the same epitope used in
CC PubMed:16787967 do not recognize any epitopes on XY chromosomes but
CC show a clear localization to the meiotic nuage.
CC {ECO:0000269|PubMed:16787967, ECO:0000269|PubMed:18694567,
CC ECO:0000269|PubMed:20011505}.
CC -!- TISSUE SPECIFICITY: Testis-specific. Present in spermatocytes and round
CC and early elongating spermatids. {ECO:0000269|PubMed:16787967,
CC ECO:0000269|PubMed:18694567}.
CC -!- DEVELOPMENTAL STAGE: Present from 12.5 dpc, although at this stage,
CC protein levels are low. In the male, from 12.5 until 14.5 cpc, it
CC localizes to the cytoplasm of germ cells, but from 15.5-16.5 dpc, it
CC localizes to the nucleus as well. In the female, it is cytoplasmic in
CC germ cells throughout embryonic gonad development (at protein level).
CC In testis, low levels are observed in the early stages of meiotic
CC prophase I (leptonema to midpachynema). Starts to accumulate throughout
CC the cytoplasm and in prominent perinuclear nuage in late pachytene and
CC diplotene spermatocytes. Meiotic metaphases and secondary spermatocytes
CC show a high level in the cytoplasm as well as in nuage. Present in the
CC chromatoid body and in a second smaller nuage in round spermatids (at
CC protein level). {ECO:0000269|PubMed:16787967}.
CC -!- DISRUPTION PHENOTYPE: Mice are viable but show profound defect in
CC synapsis of homologous chromosomes in male meiosis, piRNA production
CC defects, DNA demethylation of LINE-1 (L1) transposable elements and a
CC 100-fold increase in L1 expression in the adult testis. In the adult
CC testes, L1 transposon derepression occurs at the onset of meiosis. As a
CC result, spermatocytes are flooded with L1 ribonucleoproteins (RNPs)
CC that accumulates in large cytoplasmic enclaves and nuclei.
CC Spermatocytes with nuclear L1 RNPs exhibit massive DNA damage and
CC severe chromosome asynapsis. In gonocytes, PIWIL4, TDRD9, and DDX4 are
CC lost from piP-bodies, whereas no effects on pi-body composition are
CC observed. {ECO:0000269|PubMed:18694567, ECO:0000269|PubMed:20011505}.
CC -!- SIMILARITY: Belongs to the maelstrom family. {ECO:0000305}.
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DR EMBL; AK077103; BAC36612.1; -; mRNA.
DR EMBL; AK165801; BAE38386.1; -; mRNA.
DR EMBL; BC050800; AAH50800.1; -; mRNA.
DR CCDS; CCDS15448.1; -.
DR RefSeq; NP_780505.1; NM_175296.4.
DR AlphaFoldDB; Q8BVN9; -.
DR SMR; Q8BVN9; -.
DR BioGRID; 221084; 7.
DR STRING; 10090.ENSMUSP00000045828; -.
DR PhosphoSitePlus; Q8BVN9; -.
DR PaxDb; Q8BVN9; -.
DR PRIDE; Q8BVN9; -.
DR ProteomicsDB; 252712; -.
DR Antibodypedia; 34338; 69 antibodies from 21 providers.
DR DNASU; 98558; -.
DR Ensembl; ENSMUST00000038782; ENSMUSP00000045828; ENSMUSG00000040629.
DR GeneID; 98558; -.
DR KEGG; mmu:98558; -.
DR UCSC; uc007dkk.1; mouse.
DR CTD; 84944; -.
DR MGI; MGI:2138453; Mael.
DR VEuPathDB; HostDB:ENSMUSG00000040629; -.
DR eggNOG; ENOG502QTQB; Eukaryota.
DR GeneTree; ENSGT00390000003645; -.
DR HOGENOM; CLU_051692_0_0_1; -.
DR InParanoid; Q8BVN9; -.
DR OMA; GARNAYY; -.
DR OrthoDB; 859881at2759; -.
DR PhylomeDB; Q8BVN9; -.
DR TreeFam; TF323573; -.
DR BioGRID-ORCS; 98558; 2 hits in 76 CRISPR screens.
DR PRO; PR:Q8BVN9; -.
DR Proteomes; UP000000589; Chromosome 1.
DR RNAct; Q8BVN9; protein.
DR Bgee; ENSMUSG00000040629; Expressed in seminiferous tubule of testis and 29 other tissues.
DR ExpressionAtlas; Q8BVN9; baseline and differential.
DR Genevisible; Q8BVN9; MM.
DR GO; GO:0030849; C:autosome; IDA:MGI.
DR GO; GO:0000785; C:chromatin; IDA:MGI.
DR GO; GO:0033391; C:chromatoid body; IDA:MGI.
DR GO; GO:0005737; C:cytoplasm; IDA:MGI.
DR GO; GO:0005829; C:cytosol; TAS:Reactome.
DR GO; GO:0001673; C:male germ cell nucleus; IDA:MGI.
DR GO; GO:0005654; C:nucleoplasm; TAS:Reactome.
DR GO; GO:0005634; C:nucleus; IBA:GO_Central.
DR GO; GO:0043186; C:P granule; IDA:MGI.
DR GO; GO:0048471; C:perinuclear region of cytoplasm; IDA:MGI.
DR GO; GO:0071547; C:piP-body; IDA:UniProtKB.
DR GO; GO:0001741; C:XY body; IDA:UniProtKB.
DR GO; GO:0003723; F:RNA binding; IEA:UniProtKB-KW.
DR GO; GO:0043565; F:sequence-specific DNA binding; IBA:GO_Central.
DR GO; GO:0006915; P:apoptotic process; IMP:MGI.
DR GO; GO:0000902; P:cell morphogenesis; IMP:MGI.
DR GO; GO:0006974; P:cellular response to DNA damage stimulus; IMP:MGI.
DR GO; GO:0043046; P:DNA methylation involved in gamete generation; IMP:UniProtKB.
DR GO; GO:0035234; P:ectopic germ cell programmed cell death; IMP:MGI.
DR GO; GO:0009566; P:fertilization; IMP:MGI.
DR GO; GO:0010467; P:gene expression; IMP:MGI.
DR GO; GO:0031047; P:gene silencing by RNA; IMP:UniProtKB.
DR GO; GO:0007129; P:homologous chromosome pairing at meiosis; IMP:MGI.
DR GO; GO:0008630; P:intrinsic apoptotic signaling pathway in response to DNA damage; IMP:MGI.
DR GO; GO:0007140; P:male meiotic nuclear division; IMP:MGI.
DR GO; GO:0043066; P:negative regulation of apoptotic process; IMP:MGI.
DR GO; GO:0051093; P:negative regulation of developmental process; IMP:MGI.
DR GO; GO:0010629; P:negative regulation of gene expression; IMP:MGI.
DR GO; GO:2000242; P:negative regulation of reproductive process; IMP:MGI.
DR GO; GO:0000122; P:negative regulation of transcription by RNA polymerase II; IMP:MGI.
DR GO; GO:0045892; P:negative regulation of transcription, DNA-templated; IBA:GO_Central.
DR GO; GO:0034587; P:piRNA metabolic process; IMP:UniProtKB.
DR GO; GO:0060964; P:regulation of miRNA-mediated gene silencing; IEA:InterPro.
DR GO; GO:0046620; P:regulation of organ growth; IMP:MGI.
DR GO; GO:0007283; P:spermatogenesis; IMP:MGI.
DR Gene3D; 1.10.30.10; -; 1.
DR InterPro; IPR009071; HMG_box_dom.
DR InterPro; IPR036910; HMG_box_dom_sf.
DR InterPro; IPR024970; Maelstrom.
DR InterPro; IPR039259; Protein_maelstrom.
DR PANTHER; PTHR21358; PTHR21358; 1.
DR Pfam; PF09011; HMG_box_2; 1.
DR Pfam; PF13017; Maelstrom; 1.
DR SUPFAM; SSF47095; SSF47095; 1.
PE 1: Evidence at protein level;
KW Cytoplasm; Developmental protein; Differentiation; DNA-binding; Meiosis;
KW Nucleus; Reference proteome; RNA-binding; RNA-mediated gene silencing;
KW Spermatogenesis.
FT CHAIN 1..434
FT /note="Protein maelstrom homolog"
FT /id="PRO_0000232503"
FT DNA_BIND 4..73
FT /note="HMG box"
SQ SEQUENCE 434 AA; 49371 MW; 3007B0DBBB95415C CRC64;
MPNRRASRNA YYFFVQEKIP ELRRRGLPVA RVADAIPYCS ADWALLREDE KEKYSEMARE
WRAAQGKDSG PSEKQKLVST PLRRPGMLVP KPSISPPDMS NLSIKSDQAL LGGIFYFLNI
FSHGELPPHC EQRFLPCEIG CVKYSLQEGI MADFHSFIHP GEIPRGFRFH CQAASDSSHK
IPISNFEFGH DQATVLQNLY KFIHPNPGNW PPIYCKSDDR ARVNWCLKRM ERASEIRQDL
ELLTVEDLVV GIYQQKFLKE PSKTWVRSLL DVAMWDYSSN TRCKWHEEND ILFCALAVCK
KIAYCISNSL ATLFGIQLTG AHVPLQDYEA SNSVTPKMVV LDAGRYQKLR VESPGFCHFN
SYNQEQRSNT STGYYPSGVK ISGPHSSVRG RGITRLLESI SNSSNNIHRF SSCETSLSPY
TPQKDGYKPF SSFS
