SELENON - selenoprotein N Gene
Also Known as RSS; CFTD; SELN; MDRS1; RSMD1; SEPN1
Species: Homo sapiens
About SELENON
This gene has 4 transcripts (splice variants), 106 orthologues, 2 paralogues and is associated with 7 phenotypes. Ubiquitous expression in prostate (RPKM 28.6), lung (RPKM 27.8) and 25 other tissues.
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]
SELENON Products (2)
| mRNA | Protein | Name |
|---|---|---|
| NM_020451.3 | NP_065184.2 | selenoprotein N isoform 2 |
| NM_206926.2 | NP_996809.1 | selenoprotein N isoform 1 |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
17474147 | GOA |
| Biological Process GO Annotation | Evidence | References | Source |
|---|---|---|---|
| involved in calcium ion homeostasis |
IMP
IMP: Inferred from mutant phenotype
|
19557870 | GOA |
| involved in positive regulation of response to oxidative stress |
IMP
IMP: Inferred from mutant phenotype
|
19557870 | GOA |
| involved in regulation of ryanodine-sensitive calcium-release channel activity |
IMP
IMP: Inferred from mutant phenotype
|
18713863 | GOA |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| located in endoplasmic reticulum membrane |
IDA
IDA: Inferred from direct assay
|
12700173 | GOA |
SELENON Protein Structure
(105 - 136)
(105 - 136)
- 0
- 100
- 200
- 300
- 400
- 500
- 590 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
selenoprotein N |
|
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Rigid Spine Muscular Dystrophy 1 |
|
|
| Myopathy, Congenital, With Fiber-Type Disproportion |
|
|
| Congenital Fiber-Type Disproportion |
|
|
| Muscular Dystrophy |
|
|
| Multiminicore Disease |
|
|
| Rigid Spine Muscular Dystrophy |
|
|
| Central Core Disease Of Muscle |
|
|
| Myopathy, Myofibrillar, 1 |
|
|
| Myopathy |
|
|
| Batten-Turner Congenital Myopathy |
|
|
| Congenital Muscular Dystrophy-Dystroglycanopathy Type A10 |
|
|
| Respiratory Failure |
|
|
| Muscular Dystrophy, Congenital, Lmna-Related |
|
|
| Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset |
|
|
| Congenital Muscular Dystrophy-Dystroglycanopathy A14 |
|
|
| Pontocerebellar Hypoplasia, Type 2d |
|
|
| Congenital Muscular Dystrophy-Dystroglycanopathy Type A12 |
|
|
| Staphyloenterotoxemia |
|
|
| Carey-Fineman-Ziter Syndrome 1 |
|
|
| Bethlem Myopathy 1 |
|
|
| Myopathy, Congenital, Bailey-Bloch |
|
|
| Congenital Structural Myopathy |
|
|
| Scapuloperoneal Syndrome, Neurogenic, Kaeser Type |
|
|
| Scoliosis |
|
|
| Rhabdomyolysis-Myalgia Syndrome |
|
|
| Muscular Dystrophy, Congenital Merosin-Deficient, 1a |
|
|
| Congenital Muscular Dystrophy-Dystroglycanopathy Type A11 |
|
|
| Ullrich Congenital Muscular Dystrophy 1 |
|
|
| Myopathy, Centronuclear, 1 |
|
|
| Hyaline Body Myopathy |
|
|
| Keshan Disease |
|
|
| King-Denborough Syndrome |
|
|
| Bone Structure Disease |
|
|
| Centronuclear Myopathy |
|
|
| Myopathy, Distal, 1 |
|
|
| Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome |
|
|
| Malignant Hyperthermia |
|
|
| Ocular Motility Disease |
|
|
| Distal Arthrogryposis |
|
|
| Myofibrillar Myopathy |
|
|
| Isolated Elevated Serum Creatine Phosphokinase Levels |
|
|
| Walker-Warburg Syndrome |
|
|
| Commensal Bacterial Infectious Disease |
|
|
| Congenital Myasthenic Syndrome |
|
|
| Cardiomyopathy, Familial Hypertrophic, 1 |
|
|
| Muscle Tissue Disease |
|
|
| Autosomal Recessive Limb-Girdle Muscular Dystrophy |
|
|
| Neuromuscular Disease |
|
|
| Amyotrophic Lateral Sclerosis 1 |
|
|