SELENON

Protein-coding gene in the species Homo sapiens

SELENON

Identifiers

Aliases

SELENON, CFTD, MDRS1, RSMD1, RSS, SELN, SEPN1, selenoprotein N, 1, selenoprotein N

External IDs

OMIM: 606210; MGI: 2151208; HomoloGene: 10723; GeneCards: SELENON; OMA:SELENON - orthologs

Gene location (Human)

Chr.	Chromosome 1 (human)^[1]

Band	1p36.11	Start	25,800,193 bp^[1]
Band	1p36.11	End	25,818,221 bp^[1]

Gene location (Mouse)

Chr.	Chromosome 4 (mouse)^[2]

Band	4\|4 D3	Start	134,265,203 bp^[2]
Band	4\|4 D3	End	134,279,477 bp^[2]

RNA expression pattern

Bgee

Human

Mouse (ortholog)

Top expressed in

stromal cell of endometrium

ventricular zone

ganglionic eminence

apex of heart

smooth muscle tissue

right lobe of thyroid gland

gastric mucosa

left lobe of thyroid gland

right ovary

upper lobe of left lung

Top expressed in

granulocyte

external carotid artery

internal carotid artery

interventricular septum

molar

atrium

Gonadal ridge

dermis

mandibular prominence

maxillary prominence

More reference expression data

BioGPS

n/a

Gene ontology
Molecular function	calcium ion binding protein binding oxidoreductase activity
Cellular component	endoplasmic reticulum membrane endoplasmic reticulum membrane
Biological process	regulation of ryanodine-sensitive calcium-release channel activity positive regulation of response to oxidative stress calcium ion homeostasis skeletal muscle fiber development respiratory system process mitochondrion organization skeletal muscle satellite cell differentiation skeletal muscle satellite cell maintenance involved in skeletal muscle regeneration positive regulation of skeletal muscle cell proliferation response to muscle activity involved in regulation of muscle adaptation multicellular organismal response to stress cellular response to oxidative stress skeletal muscle tissue regeneration lung alveolus development cellular response to caffeine
Sources:Amigo / QuickGO

Orthologs

Species

Human

Mouse

Entrez


57190


74777

Ensembl


ENSG00000162430


ENSMUSG00000050989

UniProt


Q9NZV5


D3Z2R5

RefSeq (mRNA)


NM_206926 NM_020451


NM_029100

RefSeq (protein)


NP_065184 NP_996809


NP_083376

Location (UCSC)

Chr 1: 25.8 – 25.82 Mb

Chr 4: 134.27 – 134.28 Mb

PubMed search

^[3]

^[4]

Wikidata

View/Edit Human

View/Edit Mouse

Selenoprotein N is a protein that in humans is encoded by the SEPN1 gene.^[5]^[6]

Function

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. Pathogenic Mutations in SEPN1 gene (SELENON) can cause the classical phenotype of multiminicore disease and congenital muscular dystrophy with spinal rigidity and restrictive respiratory syndrome known as SEPN1-related congenital muscular dystrophy or rigid spine syndrome. Two alternatively spliced transcript variants encoding distinct isoforms have been found for this gene.^[6]

References

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000162430 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000050989 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ Lescure A, Gautheret D, Carbon P, Krol A (Dec 1999). "Novel selenoproteins identified in silico and in vivo by using a conserved RNA structural motif". The Journal of Biological Chemistry. 274 (53): 38147–54. doi:10.1074/jbc.274.53.38147. PMID 10608886.
^ ^a ^b "Entrez Gene: SEPN1 selenoprotein N, 1".

Aho H, Schwemmer M, Tessman D, Murphy D, Mattei G, Engel W, Adham IM (Mar 1996). "Isolation, expression, and chromosomal localization of the human mitochondrial capsule selenoprotein gene (MCSP)". Genomics. 32 (2): 184–90. doi:10.1006/geno.1996.0104. PMID 8833144.
Moghadaszadeh B, Desguerre I, Topaloglu H, Muntoni F, Pavek S, Sewry C, Mayer M, Fardeau M, Tomé FM, Guicheney P (Jun 1998). "Identification of a new locus for a peculiar form of congenital muscular dystrophy with early rigidity of the spine, on chromosome 1p35-36". American Journal of Human Genetics. 62 (6): 1439–45. doi:10.1086/301882. PMC 1377161. PMID 9585610.
Moghadaszadeh B, Petit N, Jaillard C, Brockington M, Quijano Roy S, Merlini L, Romero N, Estournet B, Desguerre I, Chaigne D, Muntoni F, Topaloglu H, Guicheney P (Sep 2001). "Mutations in SEPN1 cause congenital muscular dystrophy with spinal rigidity and restrictive respiratory syndrome". Nature Genetics. 29 (1): 17–8. doi:10.1038/ng713. PMID 11528383. S2CID 32502649.
Ferreiro A, Quijano-Roy S, Pichereau C, Moghadaszadeh B, Goemans N, Bönnemann C, Jungbluth H, Straub V, Villanova M, Leroy JP, Romero NB, Martin JJ, Muntoni F, Voit T, Estournet B, Richard P, Fardeau M, Guicheney P (Oct 2002). "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". American Journal of Human Genetics. 71 (4): 739–49. doi:10.1086/342719. PMC 378532. PMID 12192640.
Petit N, Lescure A, Rederstorff M, Krol A, Moghadaszadeh B, Wewer UM, Guicheney P (May 2003). "Selenoprotein N: an endoplasmic reticulum glycoprotein with an early developmental expression pattern". Human Molecular Genetics. 12 (9): 1045–53. doi:10.1093/hmg/ddg115. PMID 12700173.
Ferreiro A, Ceuterick-de Groote C, Marks JJ, Goemans N, Schreiber G, Hanefeld F, Fardeau M, Martin JJ, Goebel HH, Richard P, Guicheney P, Bönnemann CG (May 2004). "Desmin-related myopathy with Mallory body-like inclusions is caused by mutations of the selenoprotein N gene". Annals of Neurology. 55 (5): 676–86. doi:10.1002/ana.20077. PMID 15122708. S2CID 23532071.
Venance SL, Koopman WJ, Miskie BA, Hegele RA, Hahn AF (Jan 2005). "Rigid spine muscular dystrophy due to SEPN1 mutation presenting as cor pulmonale". Neurology. 64 (2): 395–6. doi:10.1212/01.WNL.0000149755.85666.DB. PMID 15668457. S2CID 45950215.
Tajsharghi H, Darin N, Tulinius M, Oldfors A (Apr 2005). "Early onset myopathy with a novel mutation in the Selenoprotein N gene (SEPN1)". Neuromuscular Disorders. 15 (4): 299–302. doi:10.1016/j.nmd.2004.11.004. PMID 15792869. S2CID 29790389.
D'Amico A, Haliloglu G, Richard P, Talim B, Maugenre S, Ferreiro A, Guicheney P, Menditto I, Benedetti S, Bertini E, Bonne G, Topaloglu H (Aug 2005). "Two patients with 'Dropped head syndrome' due to mutations in LMNA or SEPN1 genes". Neuromuscular Disorders. 15 (8): 521–4. doi:10.1016/j.nmd.2005.03.006. PMID 15961312. S2CID 30933367.
Clarke NF, Kidson W, Quijano-Roy S, Estournet B, Ferreiro A, Guicheney P, Manson JI, Kornberg AJ, Shield LK, North KN (Mar 2006). "SEPN1: associated with congenital fiber-type disproportion and insulin resistance". Annals of Neurology. 59 (3): 546–52. doi:10.1002/ana.20761. PMID 16365872. S2CID 39824649.
Allamand V, Richard P, Lescure A, Ledeuil C, Desjardin D, Petit N, Gartioux C, Ferreiro A, Krol A, Pellegrini N, Urtizberea JA, Guicheney P (Apr 2006). "A single homozygous point mutation in a 3'untranslated region motif of selenoprotein N mRNA causes SEPN1-related myopathy". EMBO Reports. 7 (4): 450–4. doi:10.1038/sj.embor.7400648. PMC 1456920. PMID 16498447.
Okamoto Y, Takashima H, Higuchi I, Matsuyama W, Suehara M, Nishihira Y, Hashiguchi A, Hirano R, Ng AR, Nakagawa M, Izumo S, Osame M, Arimura K (Jul 2006). "Molecular mechanism of rigid spine with muscular dystrophy type 1 caused by novel mutations of selenoprotein N gene". Neurogenetics. 7 (3): 175–83. doi:10.1007/s10048-006-0046-0. PMID 16779558. S2CID 25169543.