Q8BVN9 (MAEL_MOUSE) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Protein maelstrom homolog

Gene names

Name:

Mael

Organism

Mus musculus (Mouse) [Reference proteome]

Taxonomic identifier

10090 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Glires › Rodentia › Sciurognathi › Muroidea › Muridae › Murinae › Mus › Mus

Protein attributes

Sequence length	434 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	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
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 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 process	Differentiation Meiosis RNA-mediated gene silencing Spermatogenesis
Cellular component	Cytoplasm Nucleus
Ligand	DNA-binding
Molecular function	Developmental protein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	DNA 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 fertilization Inferred from mutant phenotype Ref.4. Source: MGI gene silencing by RNA Inferred from mutant phenotype Ref.4. Source: UniProtKB male meiosis Inferred from mutant phenotype Ref.4. Source: MGI meiotic prophase I 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 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 response to DNA damage stimulus 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_component	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 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_function	DNA binding Inferred from electronic annotation. Source: UniProtKB-KW
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 434	434	Protein maelstrom homolog		PRO_0000232503
Regions
	DNA binding	4 – 73	70	HMG box

Sequences

	Sequence		Length	Mass (Da)
	Q8BVN9 [UniParc]. Last modified March 1, 2003. Version 1. Checksum: 3007B0DBBB95415C	FASTA	434	49,371
	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

References

	« Hide 'large scale' referencesShow '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. , 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.
IPI	IPI00225942.
RefSeq	NP_780505.1. NM_175296.4.
UniGene	Mm.26189.
3D structure databases
ProteinModelPortal	Q8BVN9.
SMR	Q8BVN9. Positions 1-80.
ModBase	Search...
Protein-protein interaction databases
STRING	10090.ENSMUSP00000045828.
PTM databases
PhosphoSite	Q8BVN9.
Proteomic databases
PaxDb	Q8BVN9.
PRIDE	Q8BVN9.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENSMUST00000038782; ENSMUSP00000045828; ENSMUSG00000040629.
GeneID	98558.
KEGG	mmu:98558.
UCSC	uc007dkk.1. mouse.
Organism-specific databases
CTD	84944.
MGI	MGI:2138453. Mael.
Phylogenomic databases
eggNOG	NOG87091.
GeneTree	ENSGT00390000003645.
HOGENOM	HOG000113457.
HOVERGEN	HBG081947.
InParanoid	Q8BVN9.
OMA	RCKWHEE.
OrthoDB	EOG4BVRTN.
Gene expression databases
Bgee	Q8BVN9.
CleanEx	MM_MAEL.
Genevestigator	Q8BVN9.
GermOnline	ENSMUSG00000040629. Mus musculus.
Family and domain databases
Gene3D	1.10.30.10. 1 hit.
InterPro	IPR009071. HMG_box_dom. IPR024970. Maelstrom. [Graphical view]
Pfam	PF09011. DUF1898. 1 hit. PF13017. Maelstrom. 1 hit. [Graphical view]
SUPFAM	SSF47095. HMG-box. 1 hit.
PROSITE	PS50118. HMG_BOX_2. False negative. [Graphical view]
ProtoNet	Search...
Other
NextBio	353532.
SOURCE	Search...

Entry information

Entry name

MAEL_MOUSE

Accession

Primary (citable) accession number: Q8BVN9

Entry history

Integrated into UniProtKB/Swiss-Prot:	April 18, 2006
Last sequence update:	March 1, 2003
Last modified:	May 1, 2013
This is version 83 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program