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Aliases for SEPN1 Gene

Aliases for SEPN1 Gene

  • Selenoprotein N, 1 2 3
  • SELN 3 4 6
  • RSMD1 3 6
  • CFTD 3 6
  • Rigid Spine Muscular Dystrophy 1 2
  • Selenoprotein N 3
  • MDRS1 3
  • RSS 3

External Ids for SEPN1 Gene

Previous Symbols for SEPN1 Gene

  • RSMD1
  • MDRS1

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 sepn1-related multiminicore disease. Among its related pathways are Selenium Metabolism and Selenoproteins and Selenium Pathway. GO annotations related to this gene include calcium ion binding. An important paralog of this gene is ENSG00000255054.

Gene Wiki entry for SEPN1 Gene

No data available for UniProtKB/Swiss-Prot , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SEPN1 Gene

Genomics for SEPN1 Gene

Genomic Location for SEPN1 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for SEPN1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SEPN1 Gene

Regulatory Elements 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:
    No Data Available
    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

  • N-glycosylated (isoform 2)
  • Modification sites at PhosphoSitePlus
  • Glycosylation at Asn126, Asn190, Asn483, Asn505, and Asn531

Other Protein References for SEPN1 Gene

No data available for DME Specific Peptides for SEPN1 Gene

Domains for SEPN1 Gene

Gene Families for SEPN1 Gene

HGNC:
  • EFHAND :EF-hand domain containing

Protein Domains for SEPN1 Gene

InterPro:
ProtoNet:

UniProtKB/Swiss-Prot:

SELN_HUMAN
Domain:
  • The N-terminus (first 61 amino acids) contains an endoplasmic reticulum addressing and retention targeting signal:
    • Q9NZV5
  • Contains 1 EF-hand domain.:
    • Q9NZV5
genes like me logo Genes that share domains with SEPN1: view

Function for SEPN1 Gene

Gene Ontology (GO) - Molecular Function for SEPN1 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
genes like me logo Genes that share ontologies with SEPN1: view
genes like me logo Genes that share phenotypes with SEPN1: view

Animal Models for SEPN1 Gene

MGI Knock Outs for SEPN1:

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

Localization for SEPN1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SEPN1 Gene

Isoform 2: Endoplasmic reticulum membrane. Note=Probably membrane-associated.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SEPN1 Gene COMPARTMENTS Subcellular localization image for SEPN1 gene
Compartment Confidence
extracellular 5
endoplasmic reticulum 4
plasma membrane 2
cytoskeleton 1
cytosol 1
golgi apparatus 1
lysosome 1
mitochondrion 1
nucleus 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for SEPN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum --
GO:0005789 endoplasmic reticulum membrane IEA --
GO:0016020 membrane --
genes like me logo Genes that share ontologies with SEPN1: view

Pathways 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:0008150 biological_process ND --
genes like me logo Genes that share ontologies with SEPN1: view

Compounds for SEPN1 Gene

(2) HMDB Compounds for SEPN1 Gene

Compound Synonyms Cas Number PubMed IDs
Selenium
  • selenium
7782-49-2
Selenocysteine
  • (2R)-2-amino-3-selanylpropanoate
3614-08-2

(3) Novoseek inferred chemical compound relationships for SEPN1 Gene

Compound -log(P) Hits PubMed IDs
selenocysteine 80.2 8
ryanodine 54.1 2
calcium 17.1 2
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

Integrated Proteomics: protein expression 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 expressions with SEPN1: view

Orthologs for SEPN1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for SEPN1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SEPN1 36
  • 99.33 (n)
  • 98.99 (a)
SEPN1 37
  • 98 (a)
OneToOne
cow
(Bos Taurus)
Mammalia SEPN1 36
  • 89.75 (n)
  • 90.11 (a)
SEPN1 37
  • 89 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SEPN1 36
  • 91.06 (n)
  • 92.34 (a)
SEPN1 37
  • 92 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Sepn1 36
  • 87.35 (n)
  • 90.41 (a)
Sepn1 16
Sepn1 37
  • 87 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia -- 37
  • 55 (a)
OneToMany
-- 37
  • 72 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia SEPN1 37
  • 45 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Sepn1 36
  • 86.19 (n)
  • 88.66 (a)
chicken
(Gallus gallus)
Aves SEPN1 36
  • 75.76 (n)
  • 79.43 (a)
SEPN1 37
  • 75 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC394859 36
sepn1 36
  • 71.57 (n)
  • 74.23 (a)
zebrafish
(Danio rerio)
Actinopterygii sepn1 36
  • 69.32 (n)
  • 71.63 (a)
sepn1 37
  • 64 (a)
OneToOne
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.13336 36
sea squirt
(Ciona savignyi)
Ascidiacea CSA.9228 37
  • 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 MAF
rs718391 -- 25,799,343(-) TGCCT(C/G)TCAAT upstream-variant-2KB
rs733859 -- 25,811,124(+) CCCTG(G/T)GACCC intron-variant
rs733860 -- 25,811,131(-) TCAAG(C/G)CGGGT intron-variant
rs760597 Benign 25,811,771(-) CCTGA(A/C/G)GGCAG synonymous-codon, reference
rs760598 -- 25,811,645(-) GGCAA(G/T)AATCC intron-variant

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

Relevant External Links for SEPN1 Gene

HapMap Linkage Disequilibrium report
SEPN1
Human Gene Mutation Database (HGMD)
SEPN1
Locus Specific Mutation Databases (LSDB)
SEPN1

Disorders for SEPN1 Gene

(2) OMIM Diseases for SEPN1 Gene (606210)

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.

(3) University of Copenhagen DISEASES for SEPN1 Gene

(6) Novoseek inferred disease relationships for SEPN1 Gene

Disease -log(P) Hits PubMed IDs
desmin-related myopathy 93.5 2
myopathy, congenital 92.5 2
rigid spine syndrome 88.9 3
central core disease 87.7 3
muscular dystrophies 82.6 7

Relevant External Links for SEPN1

GeneTests
SEPN1
GeneReviews
SEPN1
Human Genome Epidemiology (HuGE) Navigator
SEPN1
genes like me logo Genes that share disorders with SEPN1: view

Publications for SEPN1 Gene

  1. 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 23
  2. Selenoprotein N: an endoplasmic reticulum glycoprotein with an early developmental expression pattern. (PMID: 12700173) Petit N. … Guicheney P. (Hum. Mol. Genet. 2003) 3 4 23
  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 23
  4. 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 23
  5. 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

Products for SEPN1 Gene

Sources for SEPN1 Gene

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