Selenon selenoprotein N [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Selenonprovided by MGI
Official Full Name: selenoprotein Nprovided by MGI
Primary source: MGI:MGI:2151208
See related: Ensembl:ENSMUSG00000050989 AllianceGenome:MGI:2151208
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: SelN; Sepn1; 1110019I12Rik
Summary: 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 the orthologous gene in human are associated with early onset muscle disorders, referred to as SEPN1-related myopathy. Knockout mice deleted for this gene exhibit abnormal lung development. 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. [provided by RefSeq, Dec 2016]
Expression: Ubiquitous expression in limb E14.5 (RPKM 26.2), ovary adult (RPKM 24.0) and 26 other tissues See more
Orthologs: human all
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Genomic context

Location:: 4 D3; 4 66.85 cM

Exon count:: 12

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	4	NC_000070.7 (134265203..134279477, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	4	NC_000070.6 (134537892..134552166, complement)

Chromosome 4 - NC_000070.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Defective endoplasmic reticulum-mitochondria contacts and bioenergetics in SEPN1-related myopathy.
Title: Defective endoplasmic reticulum-mitochondria contacts and bioenergetics in SEPN1-related myopathy.
These findings suggest that SELENON is part of an ER stress-dependent antioxidant response and that the CHOP/ERO1 branch of the ER stress response is a novel pathogenic mechanism underlying SELENON-related myopathies.
Title: A maladaptive ER stress response triggers dysfunction in highly active muscles of mice with SELENON loss.
Se played an important role in regulating the process of contraction in uterine smooth muscle with SelN.
Title: Selenoprotein N Was Required for the Regulation of Selenium on the Uterine Smooth Muscle Contraction in Mice.
SEPN1 enhances SERCA2 activity by reducing luminal cysteines that are hyperoxidized by ERO1-generated peroxides.
Title: SEPN1, an endoplasmic reticulum-localized selenoprotein linked to skeletal muscle pathology, counteracts hyperoxidation by means of redox-regulating SERCA2 pump activity.
SepN deficiency leads to abnormal lung development characterized by enlarged alveoli, which is associated with decreased tissue elastance and increased quasi-static compliance of Sepn1(-/-) lungs.
Title: Selenoprotein N deficiency in mice is associated with abnormal lung development.
Data show that Sepn1(-/-) mice developed an obvious phenotype, characterized by limited motility and body rigidity during the swimming session.
Title: Increased muscle stress-sensitivity induced by selenoprotein N inactivation in mouse: a mammalian model for SEPN1-related myopathy.
we describe for the first time a major physiological function of SelN in skeletal muscles, as a key regulator of SC function, which likely plays a central role in the pathophysiological mechanism leading to SEPN1-RM.
Title: Satellite cell loss and impaired muscle regeneration in selenoprotein N deficiency.
In whole embryos, Sepn1 transcripts were detected as early as E5.5, with expression levels peaking at E12.5, and then strongly decreasing until birth.
Title: Selenoprotein N is dynamically expressed during mouse development and detected early in muscle precursors.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (1)
Targeted (4) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Sepn1 (e-PCR), detects polymorphism
- UniSTS:545869

Sepn1 (e-PCR), detects polymorphism
- UniSTS:545870

Sepn1 (e-PCR), detects polymorphism
- UniSTS:545871

AI414492 (e-PCR)
- UniSTS:165360

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables calcium ion binding	IEA Inferred from Electronic Annotation more info
enables molecular_function	ND No biological Data available more info
enables oxidoreductase activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within ATP metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within L-ascorbic acid metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within L-ascorbic acid transmembrane transport	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in calcium ion homeostasis	IBA Inferred from Biological aspect of Ancestor more info
involved_in calcium ion homeostasis	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within calcium ion transport	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within cellular response to caffeine	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within cellular response to oxidative stress	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within cellular response to oxidative stress	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within collagen fibril organization	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within energy reserve metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within lung alveolus development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within membrane biogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within membrane to membrane docking	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within mitochondrion organization	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within multicellular organismal response to stress	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within muscle structure development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of response to oxidative stress	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within positive regulation of skeletal muscle cell proliferation	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of ryanodine-sensitive calcium-release channel activity	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within respiratory system process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within response to muscle activity involved in regulation of muscle adaptation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in skeletal muscle fiber development	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within skeletal muscle fiber development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within skeletal muscle satellite cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in skeletal muscle satellite cell maintenance involved in skeletal muscle regeneration	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within skeletal muscle tissue development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within skeletal muscle tissue regeneration	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within transforming growth factor beta receptor signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in endoplasmic reticulum	IEA Inferred from Electronic Annotation more info
is_active_in endoplasmic reticulum	IMP Inferred from Mutant Phenotype more info	PubMed
is_active_in endoplasmic reticulum membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in endoplasmic reticulum membrane	ISO Inferred from Sequence Orthology more info
located_in membrane	IEA Inferred from Electronic Annotation more info
is_active_in mitochondrial membrane	IDA Inferred from Direct Assay more info	PubMed
is_active_in mitochondrion	IMP Inferred from Mutant Phenotype more info	PubMed

General protein information

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Preferred Names: selenoprotein N

Names: selenoprotein N, 1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.