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SELENON

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(Redirected from SEPN1 (gene))
SELENON
Identifiers
AliasesSELENON, CFTD, MDRS1, RSMD1, RSS, SELN, SEPN1, selenoprotein N, 1, selenoprotein N
External IDsOMIM: 606210; MGI: 2151208; HomoloGene: 10723; GeneCards: SELENON; OMA:SELENON - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_206926
NM_020451

NM_029100

RefSeq (protein)

NP_065184
NP_996809

NP_083376

Location (UCSC)Chr 1: 25.8 – 25.82 MbChr 4: 134.27 – 134.28 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Selenoprotein N is a protein that in humans is encoded by the SEPN1 gene.[5][6]

Function

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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. Pathogenic Mutations in SEPN1 gene (SELENON) can cause the classical phenotype of multiminicore disease and congenital muscular dystrophy with spinal rigidity and restrictive respiratory syndrome known as SEPN1-related congenital muscular dystrophy or rigid spine syndrome. Two alternatively spliced transcript variants encoding distinct isoforms have been found for this gene.[6]

References

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000162430Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000050989Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ Lescure A, Gautheret D, Carbon P, Krol A (Dec 1999). "Novel selenoproteins identified in silico and in vivo by using a conserved RNA structural motif". The Journal of Biological Chemistry. 274 (53): 38147–54. doi:10.1074/jbc.274.53.38147. PMID 10608886.
  6. ^ a b "Entrez Gene: SEPN1 selenoprotein N, 1".

Further reading

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