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 recessiv... See more...

Aliases for SELENON Gene

Aliases for SELENON Gene

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

GeneCards Summary for SELENON Gene

SELENON (Selenoprotein N) is a Protein Coding gene. Diseases associated with SELENON include Rigid Spine Muscular Dystrophy 1 and Congenital Fiber-Type Disproportion. Among its related pathways are Selenium Metabolism and Selenoproteins and Folate Metabolism. An important paralog of this gene is BEND2.

UniProtKB/Swiss-Prot Summary 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

Additional gene information for SELENON Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SELENON Gene

Genomics for SELENON Gene

GeneHancer (GH) Regulatory Elements for SELENON Gene

Promoters and enhancers for SELENON Gene
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 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 530.3 +0.1 110 2.6 POLR2A ZBTB11 GABPA ZBTB26 ZBTB7A MYC HDAC2 KLF9 NFIC SP2 SELENON MTFR1L ENSG00000255054
GH01J025800 Promoter/Enhancer 0.9 Ensembl dbSUPER 531.2 -1.6 -1575 0.4 CTCF OSR2 ZBTB17 ZBTB48 ZFP91 GLIS1 ZSCAN21 PKNOX1 PATZ1 SELENON MTFR1L lnc-SELENON-2
GH01J025798 Enhancer 0.8 ENCODE dbSUPER 500.7 -2.0 -1991 0.2 CTCF REST SMC3 ZBTB17 ZBTB48 ZFP91 RAD21 SIN3A GLIS1 JUN SELENON MTFR1L lnc-SELENON-2
GH01J025818 Promoter/Enhancer 0.5 EPDnew dbSUPER 530.4 +17.3 17286 0.1 SELENON MTFR1L ENSG00000228172 ENSG00000255054
GH01J025812 Promoter 0.5 EPDnew 500.4 +12.4 12408 0.1 POLR2G ZSCAN4 ENSG00000255054 SELENON MTFR1L
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SELENON on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SELENON

Genomic Locations for SELENON Gene

Genomic Locations for SELENON Gene
chr1:25,800,176-25,818,222
(GRCh38/hg38)
Size:
18,047 bases
Orientation:
Plus strand
chr1:26,126,667-26,144,713
(GRCh37/hg19)
Size:
18,047 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).
    Miscellaneous:
    • [Isoform 1]: The UGA codons present in position 127 and 462 are either a selenocysteine or a real stop codon.
    • [Isoform 2]: The UGA codon present in position 428 is either a selenocysteine or a real stop codon.
    SequenceCaution:
    • Sequence=AAH15638.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=AAH42154.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};

    Alternative splice isoforms for SELENON Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SELENON Gene

Post-translational modifications for SELENON Gene

  • [Isoform 2]: N-glycosylated.
  • Glycosylation at Asn126, Asn190, Asn483, Asn505, and Asn531
  • Modification sites at PhosphoSitePlus

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

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for SELENON Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for SELENON Gene

GenScript: Design optimal peptide antigens:
  • Selenoprotein N (SELN_HUMAN)

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.
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).

Phenotypes From GWAS Catalog for SELENON Gene

Gene Ontology (GO) - Molecular Function for SELENON Gene

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 --
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:

miRNA for SELENON Gene

miRTarBase miRNAs that target SELENON

Clone 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
cytosol 3
plasma membrane 2
extracellular 2
mitochondrion 2
nucleus 2
cytoskeleton 1
peroxisome 0
lysosome 0
golgi apparatus 0

Subcellular locations from the

Human Protein Atlas (HPA)

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

Gene Ontology (GO) - Biological Process for SELENON Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003016 respiratory system process IEA --
GO:0007005 mitochondrion organization IEA --
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
Selenium Approved, Investigational, Vet_approved Pharma 226
Selenocysteine Experimental Pharma 0
genes like me logo Genes that share compounds with SELENON: view

Transcripts for SELENON Gene

mRNA/cDNA for SELENON Gene

2 REFSEQ mRNAs :
13 NCBI additional mRNA sequence :
5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Clone 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

Expression for SELENON Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SELENON

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.

Evidence on tissue expression from TISSUES for SELENON Gene

  • Lung(4.4)
  • Liver(4.2)
  • Nervous system(3.3)
  • Skin(3.2)
  • Muscle(3)
  • Thyroid gland(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for SELENON Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cheek
  • chin
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • larynx
  • mandible
  • maxilla
  • mouth
  • neck
  • nose
  • pharynx
  • skull
  • tongue
  • vocal cord
Thorax:
  • chest wall
  • diaphragm
  • esophagus
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
  • sternum
Abdomen:
  • stomach
Pelvis:
  • pelvis
  • placenta
  • uterus
Limb:
  • ankle
  • digit
  • elbow
  • finger
  • foot
  • hand
  • hip
  • knee
  • lower limb
  • shoulder
  • toe
  • upper limb
  • wrist
General:
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • spinal cord
  • vertebrae

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 31 30
  • 99.33 (n)
OneToOne
dog
(Canis familiaris)
Mammalia SEPN1 31 30
  • 91.06 (n)
OneToOne
cow
(Bos Taurus)
Mammalia SEPN1 31 30
  • 89.75 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Sepn1 31 30
  • 87.35 (n)
OneToOne
Selenon 17
rat
(Rattus norvegicus)
Mammalia Sepn1 30
  • 86.19 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 31
  • 72 (a)
OneToMany
-- 31
  • 55 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia SEPN1 31
  • 45 (a)
OneToOne
chicken
(Gallus gallus)
Aves SEPN1 31 30
  • 75.76 (n)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia sepn1 30
  • 71.57 (n)
LOC394859 30
zebrafish
(Danio rerio)
Actinopterygii sepn1 31 30 30
  • 69.32 (n)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea CSA.9228 31
  • 42 (a)
OneToMany
Cin.13336 30
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.13336 30
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, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SELENON Gene

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

Additional dbSNP identifiers (rs#s) for SELENON Gene

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)

Additional Variant Information for SELENON Gene

Human Gene Mutation Database (HGMD)
SELENON
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

(30) MalaCards diseases for SELENON Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
rigid spine muscular dystrophy 1
  • rss
congenital fiber-type disproportion
  • cftd
myopathy, congenital, with fiber-type disproportion
  • cftd
multiminicore disease
  • minicore myopathy with external ophthalmoplegia
rigid spine muscular dystrophy
  • muscular dystrophy, congenital, merosin-positive, with early spine rigidity
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

SELN_HUMAN
  • 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:18713863, ECO:0000269 PubMed:19067361}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • 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.

Additional Disease Information for 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. Oxidative stress in SEPN1-related myopathy: from pathophysiology to treatment. (PMID: 19557870) Arbogast S … Ferreiro A (Annals of neurology 2009) 3 4 23 54
  2. A mutation in the SEPN1 selenocysteine redefinition element (SRE) reduces selenocysteine incorporation and leads to SEPN1-related myopathy. (PMID: 19067361) Maiti B … Howard MT (Human mutation 2009) 3 4 23 54
  3. Desmin-related myopathy with Mallory body-like inclusions is caused by mutations of the selenoprotein N gene. (PMID: 15122708) Ferreiro A … Bönnemann CG (Annals of neurology 2004) 3 4 23 54
  4. Selenoprotein N: an endoplasmic reticulum glycoprotein with an early developmental expression pattern. (PMID: 12700173) Petit N … Guicheney P (Human molecular genetics 2003) 3 4 23 54
  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 (American journal of human genetics 2002) 3 4 23 54

Products for SELENON Gene

Sources for SELENON Gene