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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 (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 Myopathy, Congenital, With Fiber-Type Disproportion. Among its related pathways are Selenium Metabolism and Selenoproteins and Folate Metabolism. 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

Additional gene information for SELENON Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies 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
GH01I025799 Promoter/Enhancer 2 EPDnew Ensembl ENCODE dbSUPER 580.4 -0.1 -81 2.2 HDGF ZNF76 ZBTB40 ZNF121 GLIS2 SCRT2 SP3 ZBTB11 ZNF331 ZNF398 SELENON MTFR1L GC01P025766
GH01I025858 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 29.2 +60.4 60393 4.6 CLOCK YBX1 YY1 ZNF213 ZNF416 ZNF143 SP3 MEF2D SSRP1 ZNF610 ENSG00000236528 AUNIP ARID1A HMGN2 MTFR1L ENSG00000261349 SELENON LOC101928324 RPL17P9 ZNF593
GH01I025817 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 30.2 +19.9 19855 4.7 HDGF HNRNPUL1 PKNOX1 ARNT ARID4B SIN3A YBX1 DMAP1 ZNF2 YY1 MTFR1L SELENON ARID1A SYF2 HMGN2 PIGV SH3BGRL3 LOC101928728 ENSG00000261349 RPS6KA1
GH01I025888 Enhancer 1.4 Ensembl ENCODE dbSUPER 48.6 +92.5 92457 8 HDGF PKNOX1 FOXA2 ARNT ARID4B SIN3A IRF4 E2F8 ZNF143 FOS SELENON MTFR1L ARID1A PAFAH2 ENSG00000252190 ENSG00000252691 EXTL1 RNU6-110P SLC30A2 TRIM63
GH01I026618 Enhancer 1.9 FANTOM5 Ensembl ENCODE dbSUPER 21.2 +820.2 820220 4 CLOCK FEZF1 DMAP1 IRF4 YY1 ZNF213 E2F8 ZNF416 ZNF143 ZNF548 ARID1A HMGN2 ACTG1P20 GPN2 ZNF593 GPATCH3 AHDC1 RPL17P9 LOC101928324 NPM1P39
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around SELENON on UCSC Golden Path with GeneCards custom track

Genomic Locations for SELENON Gene

Genomic Locations for SELENON Gene
chr1:25,800,176-25,818,224
(GRCh38/hg38)
Size:
18,049 bases
Orientation:
Plus strand
chr1:26,126,667-26,144,713
(GRCh37/hg19)

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

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

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.
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
plasma membrane 2
cytosol 2
extracellular 1
cytoskeleton 1
mitochondrion 1
peroxisome 1
nucleus 1
lysosome 1
golgi apparatus 1

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:0048741 skeletal muscle fiber development IBA --
GO:0055074 calcium ion homeostasis 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
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 193
Selenocysteine Experimental Pharma 0
genes like me logo Genes that share compounds with SELENON: view

Transcripts for SELENON Gene

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
ECgene alternative splicing isoforms for
SELENON

Expression for SELENON Gene

NURSA nuclear receptor signaling pathways regulating expression of SELENON Gene:

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)

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
Organs:
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 33 34
  • 99.33 (n)
dog
(Canis familiaris)
Mammalia SEPN1 33 34
  • 91.06 (n)
cow
(Bos Taurus)
Mammalia SEPN1 33 34
  • 89.75 (n)
mouse
(Mus musculus)
Mammalia Sepn1 33 34
  • 87.35 (n)
Selenon 16
rat
(Rattus norvegicus)
Mammalia Sepn1 33
  • 86.19 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 72 (a)
OneToMany
-- 34
  • 55 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia SEPN1 34
  • 45 (a)
OneToOne
chicken
(Gallus gallus)
Aves SEPN1 33 34
  • 75.76 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia sepn1 33
  • 71.57 (n)
LOC394859 33
zebrafish
(Danio rerio)
Actinopterygii sepn1 33 34
  • 69.32 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.9228 34
  • 42 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.13336 33
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 Variation AA Info Type
rs1007658425 uncertain-significance, SEPN1-Related Disorders 25,818,193(+) T/C 3_prime_UTR_variant
rs1019702401 uncertain-significance, Eichsfeld type congenital muscular dystrophy 25,801,116(+) A/G/T coding_sequence_variant, missense_variant
rs1044183 likely-benign, SEPN1-Related Disorders 25,818,054(+) A/T 3_prime_UTR_variant
rs1057515432 uncertain-significance, SEPN1-Related Disorders 25,817,340(+) G/A/C 3_prime_UTR_variant
rs1057515433 uncertain-significance, SEPN1-Related Disorders 25,817,449(+) A/C 3_prime_UTR_variant

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

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

Disorder Aliases PubMed IDs
rigid spine muscular dystrophy 1
  • rss
myopathy, congenital, with fiber-type disproportion
  • cftd
congenital fiber-type disproportion
  • cftd
multiminicore disease
  • minicore myopathy with external ophthalmoplegia
myopathy, congenital
  • batten-turner congenital myopathy
- 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:18713863, ECO:0000269 PubMed:19067361}. Note=The disease is caused by mutations affecting the gene represented in this entry.
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 22 58
  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 22 58
  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 22 58
  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 22 58
  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 22 58

Products for SELENON Gene

Sources for SELENON Gene

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