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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 early onset muscle disorders, referred to as SEPN1-related myopathy. SEPN1-related myopathy consists of 4 autosomal recessive disorders, originally thought to be separate entities: rigid spine muscular dystrophy (RSMD1), the classical form of multiminicore disease, desmin related myopathy with Mallory-body like inclusions, and congenital fiber-type disproportion (CFTD). This protein is a selenoprotein, containing the rare amino acid selenocysteine (Sec). Sec is encoded by the UGA codon, which normally signals translation termination. The 3' UTRs of selenoprotein mRNAs contain a conserved stem-loop structure, designated the Sec insertion sequence (SECIS) element, that is necessary for the recognition of UGA as a Sec codon, rather than as a stop signal. A second stop-codon redefinition element (SRE) adjacent to the UGA codon has been identified in this gene (PMID:15791204). SRE is a phylogenetically conserved stem-loop structure that stimulates readthrough at the UGA codon, and augments the Sec insertion efficiency by SECIS. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2016]
SELENON (Selenoprotein N) is a Protein Coding gene. Diseases associated with SELENON include Rigid Spine Muscular Dystrophy 1 and Myopathy, Congenital, With Fiber-Type Disproportion. Among its related pathways are Folate Metabolism. An important paralog of this gene is BEND2.
GeneHancer (GH) Identifier | GH Type | GH Score |
GH Sources | Gene Association Score | Total Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites |
Gene Targets |
---|---|---|---|---|---|---|---|---|---|---|
GH01J025799 | Promoter/Enhancer | 2.1 | EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER | 630.3 | +0.1 | 110 | 2.6 | ZNF692 PATZ1 ZNF331 POLR2A ZNF600 ZFX SCRT2 NONO KLF9 MGA | SELENON MTFR1L ENSG00000255054 | |
GH01J025800 | Promoter/Enhancer | 0.9 | Ensembl dbSUPER | 631.2 | -1.6 | -1575 | 0.4 | PKNOX1 PATZ1 CTCF OSR2 ZBTB48 ZBTB17 ZFP91 GLIS1 ZSCAN21 | SELENON MTFR1L lnc-SELENON-2 MAN1C1 | |
GH01J025798 | Enhancer | 0.8 | ENCODE dbSUPER | 600.7 | -2.0 | -1991 | 0.2 | CTCF PKNOX1 PATZ1 REST ZNF600 ZBTB48 SMC3 ZBTB17 RAD21 SIN3A | SELENON MTFR1L lnc-SELENON-2 MAN1C1 | |
GH01J025818 | Promoter/Enhancer | 0.5 | EPDnew dbSUPER | 630.4 | +17.3 | 17286 | 0.1 | SELENON MTFR1L ENSG00000228172 ENSG00000255054 | ||
GH01J025812 | Promoter | 0.4 | EPDnew | 600.4 | +12.4 | 12408 | 0.1 | ZSCAN4 | ENSG00000255054 SELENON MTFR1L |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005509 | calcium ion binding | IEA | -- |
GO:0005515 | protein binding | IPI | 17474147 |
GO:0016491 | oxidoreductase activity | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005783 | endoplasmic reticulum | IEA | -- |
GO:0005789 | endoplasmic reticulum membrane | IDA | 12700173 |
GO:0016020 | membrane | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Folate Metabolism |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0048741 | skeletal muscle fiber development | IBA | 21873635 |
GO:0055074 | calcium ion homeostasis | IBA,IMP | 19557870 |
GO:0055114 | oxidation-reduction process | IEA | -- |
GO:0060314 | regulation of ryanodine-sensitive calcium-release channel activity | IMP | 18713863 |
GO:1902884 | positive regulation of response to oxidative stress | IMP | 19557870 |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | SEPN1 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | SEPN1 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | SEPN1 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Sepn1 30 31 |
|
OneToOne | |
Selenon 17 |
|
||||
Rat (Rattus norvegicus) |
Mammalia | Sepn1 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | -- 31 |
|
OneToMany | |
-- 31 |
|
OneToMany | |||
Platypus (Ornithorhynchus anatinus) |
Mammalia | SEPN1 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | SEPN1 30 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | sepn1 30 |
|
||
LOC394859 30 |
|
||||
Zebrafish (Danio rerio) |
Actinopterygii | sepn1 30 31 |
|
OneToOne | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.9228 31 |
|
OneToMany | |
Sea Vase (Ciona intestinalis) |
Ascidiacea | Cin.13336 30 |
|
SNP ID | Clinical significance and condition | Chr 01 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
623320 | Pathogenic: Eichsfeld type congenital muscular dystrophy | 25,800,232(+) | T/TGGGCC | INITIATIOR_CODON_VARIANT,FRAMESHIFT_VARIANT | |
641007 | Uncertain Significance: Eichsfeld type congenital muscular dystrophy | 25,812,784(+) | C/T | MISSENSE_VARIANT | |
642172 | Uncertain Significance: Eichsfeld type congenital muscular dystrophy | 25,813,920(+) | C/G | MISSENSE_VARIANT | |
643597 | Uncertain Significance: Eichsfeld type congenital muscular dystrophy | 25,808,577(+) | C/T | INTRON_VARIANT | |
644963 | Uncertain Significance: Eichsfeld type congenital muscular dystrophy | 25,802,013(+) | C/G | INTRON_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv14e201 | CNV | deletion | 23290073 |
esv2353706 | CNV | deletion | 18987734 |
esv2742604 | CNV | deletion | 23290073 |
esv2745652 | CNV | deletion | 23290073 |
nsv460884 | CNV | loss | 19166990 |
nsv545883 | CNV | loss | 21841781 |
nsv7490 | CNV | deletion | 18451855 |
nsv834491 | CNV | loss | 17160897 |
nsv950337 | CNV | deletion | 24416366 |
Disorder | Aliases | PubMed IDs |
---|---|---|
rigid spine muscular dystrophy 1 |
|
|
myopathy, congenital, with fiber-type disproportion |
|
|
congenital fiber-type disproportion |
|
|
rigid spine muscular dystrophy |
|
|
myopathy, congenital |
|