SEPN1

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Selenoprotein N, 1
Identifiers
Symbols SEPN1 ; CFTD; MDRS1; RSMD1; RSS; SELN
External IDs OMIM606210 HomoloGene10723 GeneCards: SEPN1 Gene
Orthologs
Species Human Mouse
Entrez 57190 74777
Ensembl ENSG00000162430 ENSMUSG00000050989
UniProt Q9NZV5 Q80UX9
RefSeq (mRNA) NM_020451 NM_029100
RefSeq (protein) NP_065184 NP_083376
Location (UCSC) Chr 1:
26.13 – 26.14 Mb
Chr 4:
134.54 – 134.55 Mb
PubMed search [1] [2]

Selenoprotein N is a protein that in humans is encoded by the SEPN1 gene.[1][2]

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.[2]

Model organisms[edit]

Model organisms have been used in the study of SEPN1 function. A conditional knockout mouse line, called Sepn1tm1a(KOMP)Wtsi[8][9] 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.[10][11][12]

Male and female animals underwent a standardized phenotypic screen to determine the effects of deletion.[6][13] Twenty five tests were carried out on homozygous mutant mice and one significant abnormality was observed: than animals displayed vertebral fusion.[6]

References[edit]

  1. ^ Lescure A, Gautheret D, Carbon P, Krol A (Feb 2000). "Novel selenoproteins identified in silico and in vivo by using a conserved RNA structural motif". J Biol Chem 274 (53): 38147–54. doi:10.1074/jbc.274.53.38147. PMID 10608886. 
  2. ^ a b "Entrez Gene: SEPN1 selenoprotein N, 1". 
  3. ^ "Radiography data for Sepn1". Wellcome Trust Sanger Institute. 
  4. ^ "Salmonella infection data for Sepn1". Wellcome Trust Sanger Institute. 
  5. ^ "Citrobacter infection data for Sepn1". Wellcome Trust Sanger Institute. 
  6. ^ 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. 
  7. ^ Mouse Resources Portal, Wellcome Trust Sanger Institute.
  8. ^ "International Knockout Mouse Consortium". 
  9. ^ "Mouse Genome Informatics". 
  10. ^ Skarnes, W. C.; Rosen, B.; West, A. P.; Koutsourakis, M.; Bushell, W.; Iyer, V.; Mujica, A. O.; Thomas, M.; Harrow, J.; Cox, T.; Jackson, D.; Severin, J.; Biggs, P.; Fu, J.; Nefedov, M.; De Jong, P. J.; Stewart, A. F.; Bradley, A. (2011). "A conditional knockout resource for the genome-wide study of mouse gene function". Nature 474 (7351): 337–342. doi:10.1038/nature10163. PMC 3572410. PMID 21677750.  edit
  11. ^ Dolgin E (2011). "Mouse library set to be knockout". Nature 474 (7351): 262–3. doi:10.1038/474262a. PMID 21677718. 
  12. ^ Collins FS, Rossant J, Wurst W (2007). "A Mouse for All Reasons". Cell 128 (1): 9–13. doi:10.1016/j.cell.2006.12.018. PMID 17218247. 
  13. ^ van der Weyden L, White JK, Adams DJ, Logan DW (2011). "The mouse genetics toolkit: revealing function and mechanism.". Genome Biol 12 (6): 224. doi:10.1186/gb-2011-12-6-224. PMC 3218837. PMID 21722353. 

Further reading[edit]

External links[edit]