Home
>
Product
>
Antibody
>
Rabbit Anti-MAEL/CT128 antibody
Mael is a 434 amino acid protein that localizes to both the nucleus and the cytoplasm and contains one HMG box DNA-binding domain. Expressed specifically in testicular tissue, Mael interacts with Ini1, mSin3B and VASA and plays an essential role in spermatogenesis, specifically by repressing and, ultimately, preventing the mobilization of transposable elements (a process that is crucial for germline integrity). Multiple isoforms of Mael exist due to alternative splicing events. The gene encoding Mael maps to human chromosome 1, which spans 260 million base pairs, contains over 3,000 genes and comprises nearly 8% of the human genome. Chromosome 1 houses a large number of disease-associated genes, including those that are involved in familial adenomatous polyposis, Stickler syndrome, Parkinson’s disease, Gaucher disease, schizophrenia and Usher syndrome. Aberrations in chromosome 1 are found in a variety of cancers, including head and neck cancer, malignant melanoma and multiple myeloma.
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.
Subcellular Location:
Cytoplasm. Nucleus. Component of the meiotic nuage, also named P granule, a germ-cell-specific organelle required to repress transposon during meiosis. Specifically localizes to piP-bodies, a subset of the nuage which contains secondary piRNAs.
Tissue Specificity:
Testis-specific. Expressed in various cancer cell lines, probably due to demethylation of its promoter.
Similarity:
Belongs to the maelstrom family.
Contains 1 HMG box DNA-binding domain.
SWISS:
Q96JY0
Gene ID:
84944
Database links:
Entrez Gene: 84944 Human
Entrez Gene: 98558 Mouse
Entrez Gene: 312839 Rat
Omim: 611368 Human
SwissProt: Q96JY0 Human
SwissProt: Q8BVN9 Mouse
Unigene: 651245 Human
Unigene: 26189 Mouse
|
|
