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Aliases for SEPN1 Gene

Aliases for SEPN1 Gene

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

External Ids for SEPN1 Gene

Previous HGNC Symbols for SEPN1 Gene

  • RSMD1
  • MDRS1

Previous GeneCards Identifiers for SEPN1 Gene

  • GC01P025606
  • GC01P025146
  • GC01P025359
  • GC01P025731
  • GC01P025999
  • GC01P026126
  • GC01P024383

Summaries for SEPN1 Gene

Entrez Gene Summary for SEPN1 Gene

  • This gene encodes a selenoprotein, which contains a selenocysteine (Sec) residue at its active site. The selenocysteine is encoded by the UGA codon that normally signals translation termination. The 3' UTR of selenoprotein genes have a common stem-loop structure, the sec insertion sequence (SECIS), that is necessary for the recognition of UGA as a Sec codon rather than as a stop signal. Mutations in this gene cause the classical phenotype of multiminicore disease and congenital muscular dystrophy with spinal rigidity and restrictive respiratory syndrome. Two alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

GeneCards Summary for SEPN1 Gene

SEPN1 (Selenoprotein N, 1) is a Protein Coding gene. Diseases associated with SEPN1 include muscular dystrophy, rigid spine, 1 and myopathy, congenital, with fiber-type disproportion. Among its related pathways are Selenium Pathway and Selenium Metabolism and Selenoproteins. GO annotations related to this gene include calcium ion binding. An important paralog of this gene is ENSG00000255054.

UniProtKB/Swiss-Prot for SEPN1 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 SEPN1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SEPN1 Gene

Genomics for SEPN1 Gene

Regulatory Elements for SEPN1 Gene

Promoters for SEPN1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around SEPN1 on UCSC Golden Path with GeneCards custom track

Genomic Location for SEPN1 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 SEPN1 Gene

Genes around SEPN1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SEPN1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SEPN1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SEPN1 Gene

Proteins for SEPN1 Gene

  • Protein details for SEPN1 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 SEPN1 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 SEPN1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SEPN1 Gene

Proteomics data for SEPN1 Gene at MOPED

Post-translational modifications for SEPN1 Gene

  • Isoform 2: N-glycosylated.
  • Glycosylation at Asn 126, Asn 190, Asn 483, Asn 505, and Asn 531
  • Modification sites at PhosphoSitePlus

Other Protein References for SEPN1 Gene

Antibody Products

No data available for DME Specific Peptides for SEPN1 Gene

Domains & Families for SEPN1 Gene

Gene Families for SEPN1 Gene

Protein Domains for SEPN1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for SEPN1 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 SEPN1: view

Function for SEPN1 Gene

Molecular function for SEPN1 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 SEPN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016491 oxidoreductase activity IEA --
genes like me logo Genes that share ontologies with SEPN1: view
genes like me logo Genes that share phenotypes with SEPN1: view

Human Phenotype Ontology for SEPN1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for SEPN1 Gene

MGI Knock Outs for SEPN1:

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for SEPN1 Gene

Localization for SEPN1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SEPN1 Gene

Isoform 2: Endoplasmic reticulum membrane.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SEPN1 Gene COMPARTMENTS Subcellular localization image for SEPN1 gene
Compartment Confidence
endoplasmic reticulum 5
cytosol 2
plasma membrane 2
vacuole 2
extracellular 1
golgi apparatus 1
lysosome 1
mitochondrion 1
nucleus 1
peroxisome 1

No data available for Gene Ontology (GO) - Cellular Components for SEPN1 Gene

Pathways & Interactions for SEPN1 Gene

genes like me logo Genes that share pathways with SEPN1: view

Pathways by source for SEPN1 Gene

2 BioSystems pathways for SEPN1 Gene

Gene Ontology (GO) - Biological Process for SEPN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007005 mitochondrion organization IEA --
GO:0014816 skeletal muscle satellite cell differentiation IEA --
GO:0014858 positive regulation of skeletal muscle cell proliferation IEA --
GO:0014873 response to muscle activity involved in regulation of muscle adaptation IEA --
GO:0033555 multicellular organismal response to stress IEA --
genes like me logo Genes that share ontologies with SEPN1: view

No data available for SIGNOR curated interactions for SEPN1 Gene

Drugs & Compounds for SEPN1 Gene

(4) Drugs for SEPN1 Gene - From: Novoseek and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Selenocysteine Experimental Pharma 0
Selenium Pharma 166
genes like me logo Genes that share compounds with SEPN1: view

Transcripts for SEPN1 Gene

Unigene Clusters for SEPN1 Gene

Selenoprotein N, 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for SEPN1 Gene

ExUns: 1 ^ 2a · 2b ^ 3 ^ 4a · 4b ^ 5a · 5b · 5c ^ 6a · 6b · 6c ^ 7 ^ 8 ^ 9a · 9b · 9c ^ 10 ^ 11 ^ 12 ^ 13
SP1:
SP2:
SP3: -
SP4: - -
SP5: - -
SP6:

Relevant External Links for SEPN1 Gene

GeneLoc Exon Structure for
SEPN1
ECgene alternative splicing isoforms for
SEPN1

Expression for SEPN1 Gene

mRNA expression in normal human tissues for SEPN1 Gene

Protein differential expression in normal tissues from HIPED for SEPN1 Gene

This gene is overexpressed in Pancreas (60.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for SEPN1 Gene



SOURCE GeneReport for Unigene cluster for SEPN1 Gene Hs.323396

mRNA Expression by UniProt/SwissProt for SEPN1 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.
genes like me logo Genes that share expression patterns with SEPN1: view

Protein tissue co-expression partners for SEPN1 Gene

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for SEPN1 Gene

Orthologs for SEPN1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for SEPN1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia SEPN1 35
  • 89.75 (n)
  • 90.11 (a)
SEPN1 36
  • 89 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SEPN1 35
  • 91.06 (n)
  • 92.34 (a)
SEPN1 36
  • 92 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Sepn1 35
  • 87.35 (n)
  • 90.41 (a)
Sepn1 16
Sepn1 36
  • 87 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia SEPN1 35
  • 99.33 (n)
  • 98.99 (a)
SEPN1 36
  • 98 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Sepn1 35
  • 86.19 (n)
  • 88.66 (a)
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 55 (a)
OneToMany
-- 36
  • 72 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia SEPN1 36
  • 45 (a)
OneToOne
chicken
(Gallus gallus)
Aves SEPN1 35
  • 75.76 (n)
  • 79.43 (a)
SEPN1 36
  • 75 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC394859 35
sepn1 35
  • 71.57 (n)
  • 74.23 (a)
zebrafish
(Danio rerio)
Actinopterygii sepn1 35
  • 69.32 (n)
  • 71.63 (a)
sepn1 36
  • 64 (a)
OneToOne
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.13336 35
sea squirt
(Ciona savignyi)
Ascidiacea CSA.9228 36
  • 42 (a)
OneToMany
Species with no ortholog for SEPN1:
  • 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 SEPN1 Gene

ENSEMBL:
Gene Tree for SEPN1 (if available)
TreeFam:
Gene Tree for SEPN1 (if available)

Paralogs for SEPN1 Gene

Paralogs for SEPN1 Gene

genes like me logo Genes that share paralogs with SEPN1: view

Variants for SEPN1 Gene

Sequence variations from dbSNP and Humsavar for SEPN1 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
VAR_019635 Rigid spine muscular dystrophy 1 (RSMD1)
VAR_019636 Rigid spine muscular dystrophy 1 (RSMD1)
VAR_019637 Rigid spine muscular dystrophy 1 (RSMD1)
VAR_019638 Rigid spine muscular dystrophy 1 (RSMD1)
VAR_019639 Rigid spine muscular dystrophy 1 (RSMD1)

Structural Variations from Database of Genomic Variants (DGV) for SEPN1 Gene

Variant ID Type Subtype PubMed ID
nsv834491 CNV Loss 17160897
nsv871186 CNV Gain 21882294
nsv460884 CNV Loss 19166990
nsv7490 CNV Loss 18451855
dgv24e201 CNV Deletion 23290073
esv2353706 CNV Deletion 18987734
esv2742604 CNV Deletion 23290073
esv2745652 CNV Deletion 23290073

Variation tolerance for SEPN1 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 SEPN1 Gene

HapMap Linkage Disequilibrium report
SEPN1
Human Gene Mutation Database (HGMD)
SEPN1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SEPN1 Gene

Disorders for SEPN1 Gene

MalaCards: The human disease database

(27) MalaCards diseases for SEPN1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
muscular dystrophy, rigid spine, 1
  • rigid spine syndrome
myopathy, congenital, with fiber-type disproportion
  • myopathy, congenital, with fiber-type disproportion 1
desmin-related myopathy with mallory body-like inclusions
  • early-onset desmin-related myopathy
classic multiminicore myopathy
  • classic mmd
congenital fiber-type disproportion
  • cftdm
- elite association - COSMIC cancer census association via MalaCards
Search SEPN1 in MalaCards View complete list of genes associated with diseases

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:19067361}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for SEPN1

Human Genome Epidemiology (HuGE) Navigator
SEPN1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SEPN1
genes like me logo Genes that share disorders with SEPN1: view

No data available for Genatlas for SEPN1 Gene

Publications for SEPN1 Gene

  1. Novel selenoproteins identified in silico and in vivo by using a conserved RNA structural motif. (PMID: 10608886) Lescure A. … Krol A. (J. Biol. Chem. 1999) 2 3 4 67
  2. Oxidative stress in SEPN1-related myopathy: from pathophysiology to treatment. (PMID: 19557870) Arbogast S. … Ferreiro A. (Ann. Neurol. 2009) 3 23
  3. 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 23
  4. A single homozygous point mutation in a 3'untranslated region motif of selenoprotein N mRNA causes SEPN1-related myopathy. (PMID: 16498447) Allamand V. … Guicheney P. (EMBO Rep. 2006) 3 23
  5. Molecular mechanism of rigid spine with muscular dystrophy type 1 caused by novel mutations of selenoprotein N gene. (PMID: 16779558) Okamoto Y. … Arimura K. (Neurogenetics 2006) 3 23

Products for SEPN1 Gene

Sources for SEPN1 Gene

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