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Aliases for SELENON Gene

Aliases for SELENON Gene

  • Selenoprotein N 2 3 5
  • Selenoprotein N, 1 2 3
  • SEPN1 3 4
  • SELN 3 4
  • Rigid Spine Muscular Dystrophy 1 2
  • MDRS1 3
  • RSMD1 3
  • CFTD 3
  • RSS 3

External Ids for SELENON Gene

Previous HGNC Symbols for SELENON Gene

  • RSMD1
  • MDRS1
  • SEPN1

Summaries for SELENON Gene

Entrez Gene Summary for SELENON Gene

  • 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. 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]

GeneCards Summary for SELENON Gene

SELENON (Selenoprotein N) is a Protein Coding gene. Diseases associated with SELENON include Muscular Dystrophy, Rigid Spine, 1 and Myopathy, Congenital, With Fiber-Type Disproportion. Among its related pathways are Folate Metabolism and Selenium Metabolism and Selenoproteins. An important paralog of this gene is ENSG00000255054.

UniProtKB/Swiss-Prot for SELENON Gene

  • Isoform 2: Plays an important role in cell protection against oxidative stress and in the regulation of redox-related calcium homeostasis. Regulates the calcium level of the ER by protecting the calcium pump ATP2A2 against the oxidoreductase ERO1A-mediated oxidative damage. Within the ER, ERO1A activity increases the concentration of H(2)O(2), which attacks the luminal thiols in ATP2A2 and thus leads to cysteinyl sulfenic acid formation (-SOH) and SEPN1 reduces the SOH back to free thiol (-SH), thus restoring ATP2A2 activity (PubMed:25452428). Acts as a modulator of ryanodine receptor (RyR) activity: protects RyR from oxidation due to increased oxidative stress, or directly controls the RyR redox state, regulating the RyR-mediated calcium mobilization required for normal muscle development and differentiation (PubMed:19557870, PubMed:18713863).

  • Essential for muscle regeneration and satellite cell maintenance in skeletal muscle (PubMed:21131290).

Gene Wiki entry for SELENON Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SELENON Gene

Genomics for SELENON Gene

Regulatory Elements for SELENON Gene

Enhancers for SELENON Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01F025888 1.3 Ensembl ENCODE 38.6 +92.5 92458 8.0 HDGF PKNOX1 ARNT ARID4B SIN3A CBX5 ZNF143 FOS KLF13 DEK SELENON MTFR1L PAFAH2 SYF2 ENSG00000252190 ENSG00000252691 EXTL1 RNU6-110P SLC30A2 TRIM63
GH01F025858 1.5 FANTOM5 ENCODE 29.2 +60.4 60393 4.6 HDGF PKNOX1 ARNT CREB3L1 ARID4B SIN3A ZNF2 YY1 ZNF416 ZNF143 MTFR1L SELENON ENSG00000207302 ENSG00000231953 ENSG00000261025 RPL39P7 ZNF593 LIN28A FAM110D ENSG00000236528
GH01F025794 1.3 Ensembl ENCODE 31.3 -4.4 -4354 3.5 ATF1 ARNT SIN3A FEZF1 ZNF2 ZNF766 GATA2 ZNF143 FOS KLF13 SELENON MTFR1L ENSG00000233478 FAM110D EXTL1 GC01P025766
GH01F025798 1.1 ENCODE 30.4 -0.1 -82 2.2 HDGF PKNOX1 ARNT CREB3L1 SIN3A FEZF1 ZNF2 ZNF766 KLF13 ZNF263 SELENON MTFR1L GC01P025766
GH01F025817 1.1 ENCODE 30.2 +19.9 19856 4.7 HDGF PKNOX1 ARNT CREB3L1 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 MTFR1L SELENON PIGV LOC101928728 LOC646471
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around SELENON on UCSC Golden Path with GeneCards custom track

Promoters for SELENON Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001518518 224 1201 HDGF PKNOX1 ARNT CREB3L1 SIN3A FEZF1 ZNF2 ZNF766 KLF13 ZNF263

Genomic Location for SELENON Gene

Chromosome:
1
Start:
25,800,176 bp from pter
End:
25,818,224 bp from pter
Size:
18,049 bases
Orientation:
Plus strand

Genomic View for SELENON Gene

Genes around SELENON on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SELENON Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SELENON Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SELENON Gene

Proteins for SELENON Gene

  • Protein details for SELENON Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NZV5-SELN_HUMAN
    Recommended name:
    Selenoprotein N
    Protein Accession:
    Q9NZV5
    Secondary Accessions:
    • A6NJG8
    • A8MQ64
    • Q6PI70
    • Q969F6
    • Q9NUI6

    Protein attributes for SELENON Gene

    Size:
    590 amino acids
    Molecular mass:
    65813 Da
    Quaternary structure:
    • Isoform 2: Interacts with RYR1, RYR2 and RYR3 (PubMed:18713863).
    SequenceCaution:
    • Sequence=AAH15638.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=AAH42154.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Alternative splice isoforms for SELENON Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SELENON Gene

Post-translational modifications for SELENON Gene

Other Protein References for SELENON Gene

No data available for DME Specific Peptides for SELENON Gene

Domains & Families for SELENON Gene

Gene Families for SELENON Gene

Protein Domains for SELENON Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for SELENON Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9NZV5

UniProtKB/Swiss-Prot:

SELN_HUMAN :
  • Isoform 2: The N-terminus (first 61 amino acids) contains an endoplasmic reticulum addressing and retention targeting signal.
Domain:
  • Isoform 2: The N-terminus (first 61 amino acids) contains an endoplasmic reticulum addressing and retention targeting signal.
  • Contains 1 EF-hand domain.
genes like me logo Genes that share domains with SELENON: view

Function for SELENON Gene

Molecular function for SELENON Gene

UniProtKB/Swiss-Prot Function:
Isoform 2: Plays an important role in cell protection against oxidative stress and in the regulation of redox-related calcium homeostasis. Regulates the calcium level of the ER by protecting the calcium pump ATP2A2 against the oxidoreductase ERO1A-mediated oxidative damage. Within the ER, ERO1A activity increases the concentration of H(2)O(2), which attacks the luminal thiols in ATP2A2 and thus leads to cysteinyl sulfenic acid formation (-SOH) and SEPN1 reduces the SOH back to free thiol (-SH), thus restoring ATP2A2 activity (PubMed:25452428). Acts as a modulator of ryanodine receptor (RyR) activity: protects RyR from oxidation due to increased oxidative stress, or directly controls the RyR redox state, regulating the RyR-mediated calcium mobilization required for normal muscle development and differentiation (PubMed:19557870, PubMed:18713863).
UniProtKB/Swiss-Prot Function:
Essential for muscle regeneration and satellite cell maintenance in skeletal muscle (PubMed:21131290).

Gene Ontology (GO) - Molecular Function for SELENON Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
GO:0005509 calcium ion binding IEA --
GO:0005515 protein binding IPI 17474147
GO:0016491 oxidoreductase activity IEA --
genes like me logo Genes that share ontologies with SELENON: view
genes like me logo Genes that share phenotypes with SELENON: view

Human Phenotype Ontology for SELENON Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for SELENON Gene

MGI Knock Outs for SELENON:

Animal Model Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for SELENON Gene

Localization for SELENON Gene

Subcellular locations from UniProtKB/Swiss-Prot for SELENON Gene

Isoform 2: Endoplasmic reticulum membrane.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SELENON gene
Compartment Confidence
endoplasmic reticulum 5
plasma membrane 2
cytosol 2
extracellular 1
mitochondrion 1
peroxisome 1
nucleus 1
lysosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for SELENON Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IEA --
GO:0005789 endoplasmic reticulum membrane IDA 12700173
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with SELENON: view

Pathways & Interactions for SELENON Gene

genes like me logo Genes that share pathways with SELENON: view

Pathways by source for SELENON Gene

2 BioSystems pathways for SELENON Gene

Gene Ontology (GO) - Biological Process for SELENON Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007005 mitochondrion organization IEA --
GO:0008150 biological_process ND --
GO:0014816 skeletal muscle satellite cell differentiation IEA --
GO:0014834 skeletal muscle satellite cell maintenance involved in skeletal muscle regeneration IEA --
GO:0014858 positive regulation of skeletal muscle cell proliferation IEA --
genes like me logo Genes that share ontologies with SELENON: view

No data available for SIGNOR curated interactions for SELENON Gene

Drugs & Compounds for SELENON Gene

(4) Drugs for SELENON Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Selenocysteine Experimental Pharma 0
Selenium Pharma 175
genes like me logo Genes that share compounds with SELENON: view

Transcripts for SELENON Gene

Unigene Clusters for SELENON Gene

Selenoprotein N, 1:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for SELENON Gene

No ASD Table

Relevant External Links for SELENON Gene

GeneLoc Exon Structure for
SELENON
ECgene alternative splicing isoforms for
SELENON

Expression for SELENON Gene

NURSA nuclear receptor signaling pathways regulating expression of SELENON Gene:

SELENON

SOURCE GeneReport for Unigene cluster for SELENON Gene:

Hs.323396

mRNA Expression by UniProt/SwissProt for SELENON Gene:

Q9NZV5-SELN_HUMAN
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.

Primer Products

No data available for mRNA expression in normal human tissues , mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression and Protein tissue co-expression partners for SELENON Gene

Orthologs for SELENON Gene

This gene was present in the common ancestor of chordates.

Orthologs for SELENON Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SEPN1 34 35
  • 99.33 (n)
dog
(Canis familiaris)
Mammalia SEPN1 34 35
  • 91.06 (n)
cow
(Bos Taurus)
Mammalia SEPN1 34 35
  • 89.75 (n)
mouse
(Mus musculus)
Mammalia Sepn1 34 16 35
  • 87.35 (n)
rat
(Rattus norvegicus)
Mammalia Sepn1 34
  • 86.19 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 35
  • 72 (a)
OneToMany
-- 35
  • 55 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia SEPN1 35
  • 45 (a)
OneToOne
chicken
(Gallus gallus)
Aves SEPN1 34 35
  • 75.76 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia sepn1 34
  • 71.57 (n)
LOC394859 34
zebrafish
(Danio rerio)
Actinopterygii sepn1 34 35
  • 69.32 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.9228 35
  • 42 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.13336 34
Species where no ortholog for SELENON was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for SELENON Gene

ENSEMBL:
Gene Tree for SELENON (if available)
TreeFam:
Gene Tree for SELENON (if available)

Paralogs for SELENON Gene

Paralogs for SELENON Gene

genes like me logo Genes that share paralogs with SELENON: view

Variants for SELENON Gene

Sequence variations from dbSNP and Humsavar for SELENON Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs121908182 Rigid spine muscular dystrophy 1 (RSMD1) [MIM:602771], Pathogenic 25,809,096(+) TCAGG(A/G)AGCTG reference, missense
rs121908185 Rigid spine muscular dystrophy 1 (RSMD1) [MIM:602771], Pathogenic 25,813,890(+) AGGGC(A/G)GACTC reference, missense
rs121908186 Rigid spine muscular dystrophy 1 (RSMD1) [MIM:602771], Pathogenic 25,812,763(+) GCTGT(C/G)GGGGG reference, missense
rs121908187 Rigid spine muscular dystrophy 1 (RSMD1) [MIM:602771], Pathogenic 25,812,789(+) CCTGC(G/T)GAGGT reference, stop-lost
rs121908188 Myopathy, congenital, with fiber-type disproportion (CFTD) [MIM:255310], Rigid spine muscular dystrophy 1 (RSMD1) [MIM:602771], Pathogenic 25,809,753(+) TCACC(A/G)GCCAC reference, missense

Structural Variations from Database of Genomic Variants (DGV) for SELENON Gene

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

Variation tolerance for SELENON Gene

Residual Variation Intolerance Score: 71% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.65; 56.89% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SELENON Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SELENON

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SELENON Gene

Disorders for SELENON Gene

MalaCards: The human disease database

(17) MalaCards diseases for SELENON Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
muscular dystrophy, rigid spine, 1
  • rigid spine muscular dystrophy 1
myopathy, congenital, with fiber-type disproportion
  • myopathy, congenital, with fiber-type disproportion 1
congenital fiber-type disproportion
  • cftdm
selenon-related multiminicore disease
  • rigid spine syndrome
selenon-related myopathy
  • rigid spine syndrome
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

SELN_HUMAN
  • Myopathy, congenital, with fiber-type disproportion (CFTD) [MIM:255310]: A genetically heterogeneous disorder in which there is relative hypotrophy of type 1 muscle fibers compared to type 2 fibers on skeletal muscle biopsy. However, these findings are not specific and can be found in many different myopathic and neuropathic conditions. {ECO:0000269 PubMed:16365872}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Rigid spine muscular dystrophy 1 (RSMD1) [MIM:602771]: A neuromuscular disorder characterized by poor axial muscle strength, scoliosis and neck weakness, and a variable degree of spinal rigidity. Early ventilatory insufficiency can lead to death by respiratory failure. {ECO:0000269 PubMed:11528383, ECO:0000269 PubMed:12192640, ECO:0000269 PubMed:15122708, ECO:0000269 PubMed:15668457, ECO:0000269 PubMed:19067361}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for SELENON

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SELENON
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SELENON
genes like me logo Genes that share disorders with SELENON: view

No data available for Genatlas for SELENON Gene

Publications for SELENON Gene

  1. A mutation in the SEPN1 selenocysteine redefinition element (SRE) reduces selenocysteine incorporation and leads to SEPN1-related myopathy. (PMID: 19067361) Maiti B. … Howard M.T. (Hum. Mutat. 2009) 3 4 22 64
  2. Oxidative stress in SEPN1-related myopathy: from pathophysiology to treatment. (PMID: 19557870) Arbogast S. … Ferreiro A. (Ann. Neurol. 2009) 3 4 22 64
  3. Desmin-related myopathy with Mallory body-like inclusions is caused by mutations of the selenoprotein N gene. (PMID: 15122708) Ferreiro A. … Bonnemann C.G. (Ann. Neurol. 2004) 3 4 22 64
  4. Selenoprotein N: an endoplasmic reticulum glycoprotein with an early developmental expression pattern. (PMID: 12700173) Petit N. … Guicheney P. (Hum. Mol. Genet. 2003) 3 4 22 64
  5. Mutations of the selenoprotein N gene, which is implicated in rigid spine muscular dystrophy, cause the classical phenotype of multiminicore disease: reassessing the nosology of early-onset myopathies. (PMID: 12192640) Ferreiro A. … Guicheney P. (Am. J. Hum. Genet. 2002) 3 4 22 64

Products for SELENON Gene

Sources for SELENON Gene

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