Human Gene SELENON (ENST00000361547.7) from GENCODE V44
Description: Homo sapiens selenoprotein N (SELENON), transcript variant 2, mRNA. (from RefSeq NM_020451) RefSeq Summary (NM_020451): 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]. Gencode Transcript: ENST00000361547.7 Gencode Gene: ENSG00000162430.18 Transcript (Including UTRs) Position: hg38 chr1:25,800,193-25,818,221 Size: 18,029 Total Exon Count: 13 Strand: + Coding Region Position: hg38 chr1:25,800,231-25,815,718 Size: 15,488 Coding Exon Count: 13
ID:SELN_HUMAN DESCRIPTION: RecName: Full=Selenoprotein N; Short=SelN; Flags: Precursor; INTERACTION: P16333:NCK1; NbExp=2; IntAct=EBI-1751965, EBI-389883; SUBCELLULAR LOCATION: Isoform 2: Endoplasmic reticulum membrane (Probable). Note=Probably membrane-associated. 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. DOMAIN: The N-terminus (first 61 amino acids) contains an endoplasmic reticulum addressing and retention targeting signal. PTM: N-glycosylated (isoform 2). DISEASE: Defects in SEPN1 are the cause of 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. SIMILARITY: Contains 1 EF-hand domain. SEQUENCE CAUTION: Sequence=AAH15638.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=AAH42154.1; Type=Erroneous initiation; Note=Translation N-terminally extended; WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/SEPN1";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q9NZV5
Front
Top
Side
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.
Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Biological Process: GO:0048741 skeletal muscle fiber development GO:0055074 calcium ion homeostasis GO:0055114 oxidation-reduction process GO:0060314 regulation of ryanodine-sensitive calcium-release channel activity GO:1902884 positive regulation of response to oxidative stress
US Server
