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SELENON selenoprotein N [ Homo sapiens (human) ]

Gene ID: 57190, updated on 12-Aug-2018

Summary

Official Symbol
SELENONprovided by HGNC
Official Full Name
selenoprotein Nprovided by HGNC
Primary source
HGNC:HGNC:15999
See related
Ensembl:ENSG00000162430 MIM:606210; Vega:OTTHUMG00000007375
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
RSS; CFTD; SELN; MDRS1; RSMD1; SEPN1
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 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]
Expression
Ubiquitous expression in prostate (RPKM 28.6), lung (RPKM 27.8) and 25 other tissues See more
Orthologs

Genomic context

See SELENON in Genome Data Viewer
Location:
1p36.11
Exon count:
13
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 1 NC_000001.11 (25800176..25818222)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (26126667..26144713)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene low density lipoprotein receptor adaptor protein 1 Neighboring gene mannosidase alpha class 1C member 1 Neighboring gene uncharacterized LOC646471 Neighboring gene mitochondrial fission regulator 1 like Neighboring gene aurora kinase A and ninein interacting protein

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Potential readthrough

Included gene: MTFR1L

Homology

Clone Names

  • FLJ24021

Gene Ontology Provided by GOA

Function Evidence Code Pubs
calcium ion binding IEA
Inferred from Electronic Annotation
more info
 
oxidoreductase activity IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
calcium ion homeostasis IMP
Inferred from Mutant Phenotype
more info
PubMed 
cellular response to caffeine IEA
Inferred from Electronic Annotation
more info
 
cellular response to oxidative stress IEA
Inferred from Electronic Annotation
more info
 
lung alveolus development IEA
Inferred from Electronic Annotation
more info
 
mitochondrion organization IEA
Inferred from Electronic Annotation
more info
 
multicellular organismal response to stress IEA
Inferred from Electronic Annotation
more info
 
oxidation-reduction process IEA
Inferred from Electronic Annotation
more info
 
positive regulation of response to oxidative stress IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of skeletal muscle cell proliferation IEA
Inferred from Electronic Annotation
more info
 
regulation of ryanodine-sensitive calcium-release channel activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
respiratory system process IEA
Inferred from Electronic Annotation
more info
 
response to muscle activity involved in regulation of muscle adaptation IEA
Inferred from Electronic Annotation
more info
 
skeletal muscle fiber development IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
skeletal muscle satellite cell differentiation IEA
Inferred from Electronic Annotation
more info
 
skeletal muscle satellite cell maintenance involved in skeletal muscle regeneration IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
endoplasmic reticulum membrane IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
selenoprotein N
Names
selenoprotein N, 1

NCBI Reference Sequences (RefSeq)

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.

Genomic

  1. NG_009930.1 RefSeqGene

    Range
    5001..23047
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_020451.2NP_065184.2  selenoprotein N isoform 2

    See identical proteins and their annotated locations for NP_065184.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) contains an additional in-frame, Alu-derived coding exon in the 5' region compared to variant 1. The encoded isoform (2) is longer than isoform 1, containing two potential selenocysteine (Sec) residues. The first Sec found in the novel exon is not conserved, while the second Sec is highly conserved. Expression of isoform 2 was not detected in vivo or in transfection studies, leaving open the possibility that the UGA codon in the novel exon may be recognized as a stop codon, and not as a Sec codon (PMID:12700173).
    Source sequence(s)
    AA613025, AF166125, AJ306399, BC021028, BC042154, BQ217758
    Consensus CDS
    CCDS41282.1
    UniProtKB/Swiss-Prot
    Q9NZV5
    Related
    ENSP00000355141.2, OTTHUMP00000008506, ENST00000361547.6, OTTHUMT00000019314
  2. NM_206926.1NP_996809.1  selenoprotein N isoform 1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the predominant transcript and encodes the canonical isoform (1).
    Source sequence(s)
    AA613025, AF166125, AJ306399, BC021028, BC042154, BQ217758
    Consensus CDS
    CCDS41283.1
    UniProtKB/Swiss-Prot
    Q9NZV5
    Related
    ENSP00000363434.1, OTTHUMP00000008507, ENST00000374315.1, OTTHUMT00000019315

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p12 Primary Assembly

    Range
    25800176..25818222
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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