• Gene id: 57190

Gene Summary

• Gene Symbol: SELENON   Gene   UCSC   Ensembl
• Aliases: CFTD, MDRS1, RSMD1, RSS, SELN, SEPN1
• Gene name: selenoprotein N
• Alternate names: selenoprotein N, selenoprotein N, 1,
• Gene location: 1p36.11 (25800192: 25818220)     Exons: 13     NC_000001.11
• Gene summary(Entrez): This gene encodes a glycoprotein that is localized in the endoplasmic reticulum. It plays an important role in cell protection against oxidative stress, and in the regulation of redox-related calcium homeostasis. Mutations in this gene are associated with
• OMIM: 606210

Protein Summary

• Protein general information: Q9NZV5  
  • Name: Selenoprotein N (SelN)
  • Length: 590  
  • Mass: 65813
  • Tissue specificity: Isoform 1 and isoform 2 are expressed in skeletal muscle, brain, lung and placenta. Isoform 2 is also expressed in heart, diaphragm and stomach. {ECO
• Sequence:

  MGRARPGQRGPPSPGPAAQPPAPPRRRARSLALLGALLAAAAAAAVRVCARHAEAQAAARQELALKTLGTDGLFL
  FSSLDTDGDMYISPEEFKPIAEKLTGSCSVTQTGVQWCSHSSLQPQLPWLNUSSCLSLLRSTPAASCEEEELPPD
  PSEETLTIEARFQPLLPETMTKSKDGFLGVSRLALSGLRNWTAAASPSAVFATRHFQPFLPPPGQELGEPWWIIP
  SELSMFTGYLSNNRFYPPPPKGKEVIIHRLLSMFHPRPFVKTRFAPQGAVACLTAISDFYYTVMFRIHAEFQLSE
  PPDFPFWFSPAQFTGHIILSKDATHVRDFRLFVPNHRSLNVDMEWLYGASESSNMEVDIGYIPQMELEATGPSVP
  SVILDEDGSMIDSHLPSGEPLQFVFEEIKWQQELSWEEAARRLEVAMYPFKKVSYLPFTEAFDRAKAENKLVHSI
  LLWGALDDQSCUGSGRTLRETVLESSPILTLLNESFISTWSLVKELEELQNNQENSSHQKLAGLHLEKYSFPVEM
  MICLPNGTVVHHINANYFLDITSVKPEEIESNLFSFSSTFEDPSTATYMQFLKEGLRRGLPLLQP

• Structural information:
  • Protein Domains: (67..10-)
    (/note="EF-hand-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00448"-)
  • Interpro: IPR002048  
  • Prosite: PS50222
  • STRING: ENSP00000355141
• Other Databases: GeneCards:  SELENON  Malacards:  SELENON

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0055074	calcium ion homeostasis	IBA	biological process
GO:0048741	skeletal muscle fiber development	IBA	biological process
GO:0005789	endoplasmic reticulum membrane	IBA	cellular component
GO:0055074	calcium ion homeostasis	IMP	biological process
GO:1902884	positive regulation of response to oxidative stress	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0060314	regulation of ryanodine-sensitive calcium-release channel activity	IMP	biological process
GO:0005509	calcium ion binding	IEA	molecular function
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0005789	endoplasmic reticulum membrane	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component

Diseases

Associated diseases	References
Congenital fiber type disproportion	KEGG:H00701
Multi-minicore disease	KEGG:H01310
Multi-minicore disease	KEGG:H01310
Rigid spine muscular dystrophy 1	PMID:11528383
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R