SEPN1

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SELENON
Identifiers
Aliases SELENON, CFTD, MDRS1, RSMD1, RSS, SELN, SEPN1, selenoprotein N, 1
External IDs MGI: 2151208 HomoloGene: 10723 GeneCards: SELENON
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_206926
NM_020451

NM_029100

RefSeq (protein)

NP_065184
NP_996809

NP_083376.2
NP_083376

Location (UCSC) Chr 1: 25.8 – 25.82 Mb Chr 4: 134.54 – 134.55 Mb
PubMed search [1] [2]
Wikidata
View/Edit Human View/Edit Mouse

Selenoprotein N is a protein that in humans is encoded by the SEPN1 gene.[3][4]

Function[edit]

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. 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.[4]

Model organisms[edit]

Model organisms have been used in the study of SEPN1 function. A conditional knockout mouse line, called Sepn1tm1a(KOMP)Wtsi[10][11] was generated as part of the International Knockout Mouse Consortium program — a high-throughput mutagenesis project to generate and distribute animal models of disease to interested scientists.[12][13][14]

Male and female animals underwent a standardized phenotypic screen to determine the effects of deletion.[8][15] Twenty five tests were carried out on homozygous mutant mice and one significant abnormality was observed: than animals displayed vertebral fusion.[8]

References[edit]

  1. ^ "Human PubMed Reference:". 
  2. ^ "Mouse PubMed Reference:". 
  3. ^ 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. 
  4. ^ a b "Entrez Gene: SEPN1 selenoprotein N, 1". 
  5. ^ "Radiography data for Sepn1". Wellcome Trust Sanger Institute. 
  6. ^ "Salmonella infection data for Sepn1". Wellcome Trust Sanger Institute. 
  7. ^ "Citrobacter infection data for Sepn1". Wellcome Trust Sanger Institute. 
  8. ^ a b c Gerdin AK (2010). "The Sanger Mouse Genetics Programme: High throughput characterisation of knockout mice". Acta Ophthalmologica. 88: 925–7. doi:10.1111/j.1755-3768.2010.4142.x. 
  9. ^ Mouse Resources Portal, Wellcome Trust Sanger Institute.
  10. ^ "International Knockout Mouse Consortium". 
  11. ^ "Mouse Genome Informatics". 
  12. ^ Skarnes WC, Rosen B, West AP, Koutsourakis M, Bushell W, Iyer V, Mujica AO, Thomas M, Harrow J, Cox T, Jackson D, Severin J, Biggs P, Fu J, Nefedov M, de Jong PJ, Stewart AF, Bradley A (Jun 2011). "A conditional knockout resource for the genome-wide study of mouse gene function". Nature. 474 (7351): 337–42. doi:10.1038/nature10163. PMC 3572410Freely accessible. PMID 21677750. 
  13. ^ Dolgin E (Jun 2011). "Mouse library set to be knockout". Nature. 474 (7351): 262–3. doi:10.1038/474262a. PMID 21677718. 
  14. ^ Collins FS, Rossant J, Wurst W (Jan 2007). "A mouse for all reasons". Cell. 128 (1): 9–13. doi:10.1016/j.cell.2006.12.018. PMID 17218247. 
  15. ^ van der Weyden L, White JK, Adams DJ, Logan DW (2011). "The mouse genetics toolkit: revealing function and mechanism". Genome Biology. 12 (6): 224. doi:10.1186/gb-2011-12-6-224. PMC 3218837Freely accessible. PMID 21722353. 

Further reading[edit]

External links[edit]