Mus musculus Protein: Mael
Summary
InnateDB Protein IDBP-202999.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol Mael
Protein Name maelstrom homolog (Drosophila)
Synonyms 4933405K18Rik; AU019877;
Species Mus musculus
Ensembl Protein ENSMUSP00000045828
InnateDB Gene IDBG-202997 (Mael)
Protein Structure
UniProt Annotation
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. {ECO:0000269PubMed:18694567, ECO:0000269PubMed:20011505}.
Subcellular Localization 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.
Disease Associations
Tissue Specificity Testis-specific. Present in spermatocytes and round and early elongating spermatids. {ECO:0000269PubMed:16787967, ECO:0000269PubMed:18694567}.
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 6 experimentally validated interaction(s) in this database.
Experimentally validated
Total 6 [view]
Protein-Protein 6 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0003677 DNA binding
GO:0005515 protein binding
Biological Process
GO:0000122 negative regulation of transcription from RNA polymerase II promoter
GO:0000902 cell morphogenesis
GO:0006974 cellular response to DNA damage stimulus
GO:0007129 synapsis
GO:0007140 male meiosis
GO:0007275 multicellular organismal development
GO:0007283 spermatogenesis
GO:0008630 intrinsic apoptotic signaling pathway in response to DNA damage
GO:0009566 fertilization
GO:0010629 negative regulation of gene expression
GO:0030154 cell differentiation
GO:0031047 gene silencing by RNA
GO:0034587 piRNA metabolic process
GO:0043046 DNA methylation involved in gamete generation
GO:0043066 negative regulation of apoptotic process
GO:0046620 regulation of organ growth
Cellular Component
GO:0000785 chromatin
GO:0001741 XY body
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0030849 autosome
GO:0033391 chromatoid body
GO:0043186 P granule
GO:0048471 perinuclear region of cytoplasm
GO:0071547 piP-body
Protein Structure and Domains
PDB ID MGI:2138453
InterPro IPR009071 High mobility group box domain
PFAM PF00505
PF09011
PRINTS
PIRSF
SMART SM00398
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q8BVN9
PhosphoSite PhosphoSite-
TrEMBL
UniProt Splice Variant
Entrez Gene 98558
UniGene Mm.26189
RefSeq NP_780505
MGI ID
MGI Symbol Mael
OMIM
CCDS CCDS15448
HPRD
IMGT
EMBL AK077103 AK165801 BC050800
GenPept AAH50800 BAC36612 BAE38386