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Gene Protein Transcript Promoter Expression GO/PPI PubMed Cross reference

Gene information for SEPN1 (Homo sapiens)
(Information is obtained from NCBI Gene database)
Entrez gene ID57190
Official gene symbolSEPN1
Full nameselenoprotein N, 1
Aliases,FLJ24021,MDRS1,RSMD1,RSS,SELN,
Gene summaryThis 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. Mutations in this gene cause the classical phenotype of multiminicore disease and congenital muscular dystrophy with spinal rigidity and restrictive respiratory syndrome. Two alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq]
LocationChromosome: 1   Locus: 1p36.13
Gene position26126667 - 26144713  Map Viewer
Gene orientationplus
Gene size18047 bp
Gene sequence
OMIM ID606210