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Protein

Protein maelstrom homolog

Gene

Mael

Organism
Mus musculus (Mouse)
Status
Reviewed-Annotation score: -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)DescriptionActionsGraphical viewLength
DNA bindingi4 – 73HMG boxAdd BLAST70

GO - Molecular functioni

GO - Biological processi

  • cell differentiation Source: UniProtKB-KW
  • cell morphogenesis Source: MGI
  • cellular response to DNA damage stimulus Source: MGI
  • DNA methylation involved in gamete generation Source: UniProtKB
  • fertilization Source: MGI
  • gene silencing by RNA Source: UniProtKB
  • intrinsic apoptotic signaling pathway in response to DNA damage Source: MGI
  • male meiotic nuclear division Source: MGI
  • multicellular organism development Source: UniProtKB-KW
  • negative regulation of apoptotic process Source: MGI
  • negative regulation of gene expression Source: MGI
  • negative regulation of transcription by RNA polymerase II Source: MGI
  • piRNA metabolic process Source: UniProtKB
  • regulation of gene silencing by miRNA Source: InterPro
  • regulation of organ growth Source: MGI
  • spermatogenesis Source: MGI
  • synapsis Source: MGI

Keywordsi

Molecular functionDevelopmental protein, DNA-binding, RNA-binding
Biological processDifferentiation, Meiosis, RNA-mediated gene silencing, Spermatogenesis

Names & Taxonomyi

Protein namesi
Recommended name:
Protein maelstrom homologCurated
Gene namesi
Name:MaelImported
OrganismiMus musculus (Mouse)
Taxonomic identifieri10090 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaMyomorphaMuroideaMuridaeMurinaeMusMus
Proteomesi
  • UP000000589 Componenti: Chromosome 1

Organism-specific databases

MGIiMGI:2138453 Mael

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

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)DescriptionActionsGraphical viewLength
ChainiPRO_00002325031 – 434Protein maelstrom homologAdd BLAST434

Proteomic databases

PaxDbiQ8BVN9
PRIDEiQ8BVN9

PTM databases

PhosphoSitePlusiQ8BVN9

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

BgeeiENSMUSG00000040629
CleanExiMM_MAEL
ExpressionAtlasiQ8BVN9 baseline and differential
GenevisibleiQ8BVN9 MM

Interactioni

Subunit structurei

Interacts with SMARCB1, SIN3B and DDX4. Interacts with piRNA-associated proteins TDRD1, PIWIL1 and PIWIL2. Interacts with Tex19.1 and, probably, Tex19.2 (PubMed:28254886).2 Publications

Protein-protein interaction databases

BioGridi221084, 7 interactors
STRINGi10090.ENSMUSP00000045828

Structurei

3D structure databases

ProteinModelPortaliQ8BVN9
SMRiQ8BVN9
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the maelstrom family.Curated

Phylogenomic databases

eggNOGiENOG410INZ4 Eukaryota
ENOG4111Z8I LUCA
GeneTreeiENSGT00390000003645
HOGENOMiHOG000113457
HOVERGENiHBG081947
InParanoidiQ8BVN9
KOiK18411
OMAiRCKWHEE
OrthoDBiEOG091G0BYM
PhylomeDBiQ8BVN9
TreeFamiTF323573

Family and domain databases

Gene3Di1.10.30.10, 1 hit
InterProiView protein in InterPro
IPR009071 HMG_box_dom
IPR036910 HMG_box_dom_sf
IPR024970 Maelstrom
PfamiView protein in Pfam
PF09011 HMG_box_2, 1 hit
PF13017 Maelstrom, 1 hit
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

Similar proteinsi

Entry informationi

Entry nameiMAEL_MOUSE
AccessioniPrimary (citable) accession number: Q8BVN9
Entry historyiIntegrated into UniProtKB/Swiss-Prot: April 18, 2006
Last sequence update: March 1, 2003
Last modified: March 28, 2018
This is version 120 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

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