Q8BVN9 (MAEL_MOUSE) Reviewed, UniProtKB/Swiss-Prot
Last modified May 1, 2013. Version 83. History...
Names and origin
|Protein names||Recommended name:|
Protein maelstrom homolog
|Organism||Mus musculus (Mouse) [Reference proteome]|
|Taxonomic identifier||10090 [NCBI]|
|Taxonomic lineage||Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Glires › Rodentia › Sciurognathi › Muroidea › Muridae › Murinae › Mus › Mus|
|Sequence length||434 AA.|
|Protein existence||Evidence at protein level|
General annotation (Comments)
Plays a central role during spermatogenesis by repressing transposable elements and prevent 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 govern the methylation and subsequent repression of transposons. Its association with piP-bodies suggests a participation in the secondary piRNAs metabolic process. Required for localization of germ-cell factors to the meiotic nuage. Ref.4 Ref.5
Interacts with SMARCB1, SIN3B and DDX4. Interacts with piRNA-associated proteins TDRD1, PIWIL1 and PIWIL2. Ref.3
Cytoplasm. Nucleus. Note: Component of the meiotic nuage, also named P granule, a germ-cell-specific organelle required to repress transposon 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. Ref.3, reported an association with the nuclear XY body, however, Ref.4 showed that it is not the case because the antibody used by Ref.3 still stains the nuclear XY body in spermatocytes lacking Mael. Moreover other antibodies raized against the same epitope used in Ref.3 do not recognize any epitopes on XY chromosomes but show a clear localization to the meiotic nuage. Ref.3 Ref.4 Ref.5
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). Ref.3
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. Ref.4 Ref.5
Belongs to the maelstrom family.
Contains 1 HMG box DNA-binding domain.
RNA-mediated gene silencing
|Molecular function||Developmental protein|
|Technical term||Complete proteome|
|Gene Ontology (GO)|
|Biological_process||DNA methylation involved in gamete generationcell differentiation|
Inferred from electronic annotation. Source: UniProtKB-KWcell morphogenesisfertilizationgene silencing by RNAmale meiosismeiotic prophase Imulticellular organismal development
Inferred from electronic annotation. Source: UniProtKB-KWnegative regulation of apoptotic processnegative regulation of transcription from RNA polymerase II promoterpiRNA metabolic processregulation of organ growthresponse to DNA damage stimulusspermatogenesissynapsis
|Cellular_component||XY bodyautosomechromatinchromatoid bodynucleusperinuclear region of cytoplasmpiP-body|
Inferred from electronic annotation. Source: UniProtKB-KW
|Complete GO annotation...|
Sequence annotation (Features)
|||"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. Hayashizaki Y.
Science 309:1559-1563(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
|||"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].
|||"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.
|||"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.
|||"Cytoplasmic compartmentalization of the fetal piRNA pathway in mice."|
Aravin A.A., van der Heijden G.W., Castaneda J., Vagin V.V., Hannon G.J., Bortvin A.
PLoS Genet. 5:E1000764-E1000764(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION, SUBCELLULAR LOCATION, DISRUPTION PHENOTYPE.
|+||Additional computationally mapped references.|
|AK077103 mRNA. Translation: BAC36612.1.|
AK165801 mRNA. Translation: BAE38386.1.
BC050800 mRNA. Translation: AAH50800.1.
|RefSeq||NP_780505.1. NM_175296.4. |
3D structure databases
|SMR||Q8BVN9. Positions 1-80. |
Protein-protein interaction databases
Protocols and materials databases
Genome annotation databases
|Ensembl||ENSMUST00000038782; ENSMUSP00000045828; ENSMUSG00000040629. |
|UCSC||uc007dkk.1. mouse. |
|MGI||MGI:2138453. Mael. |
Gene expression databases
|GermOnline||ENSMUSG00000040629. Mus musculus. |
Family and domain databases
|Gene3D||22.214.171.124. 1 hit. |
|InterPro||IPR009071. HMG_box_dom. |
|Pfam||PF09011. DUF1898. 1 hit. |
PF13017. Maelstrom. 1 hit.
|SUPFAM||SSF47095. HMG-box. 1 hit. |
|PROSITE||PS50118. HMG_BOX_2. False negative. |
|Accession||Primary (citable) accession number: Q8BVN9|
|Entry status||Reviewed (UniProtKB/Swiss-Prot)|
|Annotation program||Chordata Protein Annotation Program|