GO curators for mouse genes have assigned the following annotations to the gene product of Sepn1. (This text reflects annotations as of Wednesday, August 14, 2013.) MGI curation of this mouse gene is considered complete, including annotations derived from the biomedical literature as of February 2, 2010. If you know of any additional information regarding this mouse gene please let us know. Please supply mouse gene symbol and a PubMed ID.Summary from NCBI RefSeq
This gene encodes a selenoprotein, which contains a selenocysteine (Sec) residue at its active site. The selenocysteine is encoded by the UGA codon that normally signals translation termination. The 3' UTR of selenoprotein genes have a common stem-loop structure, the sec insertion sequence (SECIS), that is necessary for the recognition of UGA as a Sec codon rather than as a stop signal. The function of this gene in mouse is not known, however, mutations in the homologous gene in human are associated with multiminicore disease and rigid spine muscular dystrophy. [provided by RefSeq, Jul 2008]Summary text based on GO annotations supported by experimental evidence in mouse
Researchers have inferred from direct assay, that the gene product of Sepn1
participates in the following biological processes:
Annotations directly to molecular function and cellular component for the gene Sepn1 indicate that MGI curators have found no experimental data [literature] to support further annotation to these categories at this time.
Castets P et al. (2011) Satellite cell loss and impaired muscle regeneration in selenoprotein N deficiency. Hum Mol Genet, 20:694-704. (PubMed:21131290)
Rederstorff M et al. (2011) Increased muscle stress-sensitivity induced by selenoprotein N inactivation in mouse: a mammalian model for SEPN1-related myopathy. PLoS One, 6:e23094. (PubMed:21858002)