Homo sapiens Protein: MAEL
Summary
InnateDB Protein IDBP-104525.7
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol MAEL
Protein Name maelstrom homolog (Drosophila)
Synonyms
Species Homo sapiens
Ensembl Protein ENSP00000356844
InnateDB Gene IDBG-104521 (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 (By similarity). {ECO:0000250}.
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. Specifically localizes to piP-bodies, a subset of the nuage which contains secondary piRNAs (By similarity). {ECO:0000250}.
Disease Associations
Tissue Specificity Testis-specific. Expressed in various cancer cell lines, probably due to demethylation of its promoter. {ECO:0000269PubMed:19693694, ECO:0000269Ref.1}.
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 2 experimentally validated interaction(s) in this database.
They are also associated with 6 interaction(s) predicted by orthology.
Experimentally validated
Total 2 [view]
Protein-Protein 2 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 6 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0003677 DNA binding
GO:0005515 protein binding
Biological Process
GO:0007275 multicellular organismal development
GO:0007283 spermatogenesis
GO:0030154 cell differentiation
GO:0031047 gene silencing by RNA
GO:0034587 piRNA metabolic process
GO:0043046 DNA methylation involved in gamete generation
Cellular Component
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0043186 P granule
GO:0071547 piP-body
Protein Structure and Domains
PDB ID
InterPro IPR001715 Calponin homology domain
IPR009071 High mobility group box domain
PFAM PF00307
PF00505
PF09011
PRINTS
PIRSF
SMART SM00033
SM00398
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q96JY0
PhosphoSite PhosphoSite-Q96JY0
TrEMBL X6RGB1
UniProt Splice Variant
Entrez Gene 84944
UniGene Hs.651245
RefSeq NP_001273306
HUGO HGNC:25929
OMIM 611368
CCDS CCDS65712
HPRD 08609
IMGT
EMBL AK027810 AK302253 AL133073 AL158837 BC028595 BC034310 DQ076156 GU383113
GenPept AAH28595 AAH34310 AAY82463 ADU33235 BAB55385 BAG63605 CAB61396 CAH69955 CAH69956