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Q8BVN9 (MAEL_MOUSE) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 94. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (2) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Protein maelstrom homolog
Gene names
Name:Mael
OrganismMus musculus (Mouse) [Reference proteome]
Taxonomic identifier10090 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaSciurognathiMuroideaMuridaeMurinaeMusMus

Protein attributes

Sequence length434 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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. Ref.4 Ref.5

Subunit structure

Interacts with SMARCB1, SIN3B and DDX4. Interacts with piRNA-associated proteins TDRD1, PIWIL1 and PIWIL2. Ref.3

Subcellular location

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. 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

Tissue specificity

Testis-specific. Present in spermatocytes and round and early elongating spermatids. Ref.3 Ref.4

Developmental stage

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

Disruption phenotype

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

Sequence similarities

Belongs to the maelstrom family.

Contains 1 HMG box DNA-binding domain.

Ontologies

Keywords
   Biological processDifferentiation
Meiosis
RNA-mediated gene silencing
Spermatogenesis
   Cellular componentCytoplasm
Nucleus
   LigandDNA-binding
   Molecular functionDevelopmental protein
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processDNA methylation involved in gamete generation

Inferred from mutant phenotype Ref.5. Source: UniProtKB

cell differentiation

Inferred from electronic annotation. Source: UniProtKB-KW

cell morphogenesis

Inferred from mutant phenotype Ref.4. Source: MGI

cellular response to DNA damage stimulus

Inferred from mutant phenotype Ref.4. Source: MGI

fertilization

Inferred from mutant phenotype Ref.4. Source: MGI

gene silencing by RNA

Inferred from mutant phenotype Ref.4. Source: UniProtKB

intrinsic apoptotic signaling pathway in response to DNA damage

Inferred from mutant phenotype Ref.4. Source: MGI

male meiosis

Inferred from mutant phenotype Ref.4. Source: MGI

multicellular organismal development

Inferred from electronic annotation. Source: UniProtKB-KW

negative regulation of apoptotic process

Inferred from mutant phenotype Ref.4. Source: MGI

negative regulation of gene expression

Inferred from mutant phenotype Ref.4. Source: MGI

negative regulation of transcription from RNA polymerase II promoter

Inferred from mutant phenotype Ref.4. Source: MGI

piRNA metabolic process

Inferred from mutant phenotype Ref.4Ref.5. Source: UniProtKB

regulation of organ growth

Inferred from mutant phenotype Ref.4. Source: MGI

spermatogenesis

Inferred from mutant phenotype Ref.4. Source: MGI

synapsis

Inferred from mutant phenotype Ref.4. Source: MGI

   Cellular_componentP granule

Inferred from direct assay Ref.3Ref.4. Source: MGI

XY body

Inferred from direct assay Ref.3. Source: UniProtKB

autosome

Inferred from direct assay Ref.3. Source: MGI

chromatin

Inferred from direct assay Ref.3. Source: MGI

chromatoid body

Inferred from direct assay Ref.3. Source: MGI

cytoplasm

Inferred from direct assay Ref.3Ref.4. Source: MGI

nucleus

Inferred from direct assay Ref.3Ref.4. Source: MGI

perinuclear region of cytoplasm

Inferred from direct assay Ref.4. Source: MGI

piP-body

Inferred from direct assay Ref.5. Source: UniProtKB

   Molecular_functionDNA binding

Inferred from electronic annotation. Source: UniProtKB-KW

protein binding

Inferred from physical interaction Ref.3. Source: UniProtKB

Complete GO annotation...

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 434434Protein maelstrom homolog
PRO_0000232503

Regions

DNA binding4 – 7370HMG box

Sequences

Sequence LengthMass (Da)Tools
Q8BVN9 [UniParc].

Last modified March 1, 2003. Version 1.
Checksum: 3007B0DBBB95415C

FASTA43449,371
        10         20         30         40         50         60 
MPNRRASRNA YYFFVQEKIP ELRRRGLPVA RVADAIPYCS ADWALLREDE KEKYSEMARE 

        70         80         90        100        110        120 
WRAAQGKDSG PSEKQKLVST PLRRPGMLVP KPSISPPDMS NLSIKSDQAL LGGIFYFLNI 

       130        140        150        160        170        180 
FSHGELPPHC EQRFLPCEIG CVKYSLQEGI MADFHSFIHP GEIPRGFRFH CQAASDSSHK 

       190        200        210        220        230        240 
IPISNFEFGH DQATVLQNLY KFIHPNPGNW PPIYCKSDDR ARVNWCLKRM ERASEIRQDL 

       250        260        270        280        290        300 
ELLTVEDLVV GIYQQKFLKE PSKTWVRSLL DVAMWDYSSN TRCKWHEEND ILFCALAVCK 

       310        320        330        340        350        360 
KIAYCISNSL ATLFGIQLTG AHVPLQDYEA SNSVTPKMVV LDAGRYQKLR VESPGFCHFN 

       370        380        390        400        410        420 
SYNQEQRSNT STGYYPSGVK ISGPHSSVRG RGITRLLESI SNSSNNIHRF SSCETSLSPY 

       430 
TPQKDGYKPF SSFS 

« Hide

References

« Hide 'large scale' references
[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. expand/collapse author list , 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]"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.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AK077103 mRNA. Translation: BAC36612.1.
AK165801 mRNA. Translation: BAE38386.1.
BC050800 mRNA. Translation: AAH50800.1.
CCDSCCDS15448.1.
RefSeqNP_780505.1. NM_175296.4.
UniGeneMm.26189.

3D structure databases

ProteinModelPortalQ8BVN9.
SMRQ8BVN9. Positions 1-80.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid221084. 6 interactions.
STRING10090.ENSMUSP00000045828.

PTM databases

PhosphoSiteQ8BVN9.

Proteomic databases

PaxDbQ8BVN9.
PRIDEQ8BVN9.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENSMUST00000038782; ENSMUSP00000045828; ENSMUSG00000040629.
GeneID98558.
KEGGmmu:98558.
UCSCuc007dkk.1. mouse.

Organism-specific databases

CTD84944.
MGIMGI:2138453. Mael.

Phylogenomic databases

eggNOGNOG87091.
GeneTreeENSGT00390000003645.
HOGENOMHOG000113457.
HOVERGENHBG081947.
InParanoidQ8BVN9.
OMAFIHPNPG.
OrthoDBEOG7R2BMR.
PhylomeDBQ8BVN9.
TreeFamTF323573.

Gene expression databases

BgeeQ8BVN9.
CleanExMM_MAEL.
GenevestigatorQ8BVN9.

Family and domain databases

Gene3D1.10.30.10. 1 hit.
InterProIPR009071. HMG_box_dom.
IPR024970. Maelstrom.
[Graphical view]
PfamPF09011. HMG_box_2. 1 hit.
PF13017. Maelstrom. 1 hit.
[Graphical view]
SUPFAMSSF47095. SSF47095. 1 hit.
ProtoNetSearch...

Other

NextBio353532.
PROQ8BVN9.
SOURCESearch...

Entry information

Entry nameMAEL_MOUSE
AccessionPrimary (citable) accession number: Q8BVN9
Entry history
Integrated into UniProtKB/Swiss-Prot: April 18, 2006
Last sequence update: March 1, 2003
Last modified: July 9, 2014
This is version 94 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program

Relevant documents

SIMILARITY comments

Index of protein domains and families

MGD cross-references

Mouse Genome Database (MGD) cross-references in UniProtKB/Swiss-Prot