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Q8BVN9

- MAEL_MOUSE

UniProt

Q8BVN9 - MAEL_MOUSE

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Protein

Protein maelstrom homolog

Gene

Mael

Organism
Mus musculus (Mouse)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli

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

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
Complete GO annotation...

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
Complete GO annotation...

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.
KOiK18411.
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

        10         20         30         40         50
MPNRRASRNA YYFFVQEKIP ELRRRGLPVA RVADAIPYCS ADWALLREDE
60 70 80 90 100
KEKYSEMARE WRAAQGKDSG PSEKQKLVST PLRRPGMLVP KPSISPPDMS
110 120 130 140 150
NLSIKSDQAL LGGIFYFLNI FSHGELPPHC EQRFLPCEIG CVKYSLQEGI
160 170 180 190 200
MADFHSFIHP GEIPRGFRFH CQAASDSSHK IPISNFEFGH DQATVLQNLY
210 220 230 240 250
KFIHPNPGNW PPIYCKSDDR ARVNWCLKRM ERASEIRQDL ELLTVEDLVV
260 270 280 290 300
GIYQQKFLKE PSKTWVRSLL DVAMWDYSSN TRCKWHEEND ILFCALAVCK
310 320 330 340 350
KIAYCISNSL ATLFGIQLTG AHVPLQDYEA SNSVTPKMVV LDAGRYQKLR
360 370 380 390 400
VESPGFCHFN SYNQEQRSNT STGYYPSGVK ISGPHSSVRG RGITRLLESI
410 420 430
SNSSNNIHRF SSCETSLSPY TPQKDGYKPF SSFS
Length:434
Mass (Da):49,371
Last modified:March 1, 2003 - v1
Checksum:i3007B0DBBB95415C
GO

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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:
EMBLi
GenBanki
DDBJi
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.
KOi K18411.
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

« Hide 'large scale' publications
  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 29, 2014
This is version 96 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