Details for: SELENON

Gene ID: 57190

Symbol: SELENON

Ensembl ID: ENSG00000162430

Description: selenoprotein N

Associated with

  • Calcium ion binding
    (GO:0005509)
  • Calcium ion homeostasis
    (GO:0055074)
  • Cellular response to caffeine
    (GO:0071313)
  • Cellular response to oxidative stress
    (GO:0034599)
  • Endoplasmic reticulum membrane
    (GO:0005789)
  • Lung alveolus development
    (GO:0048286)
  • Mitochondrion organization
    (GO:0007005)
  • Multicellular organismal response to stress
    (GO:0033555)
  • Oxidoreductase activity
    (GO:0016491)
  • Positive regulation of response to oxidative stress
    (GO:1902884)
  • Positive regulation of skeletal muscle cell proliferation
    (GO:0014858)
  • Protein binding
    (GO:0005515)
  • Regulation of ryanodine-sensitive calcium-release channel activity
    (GO:0060314)
  • Respiratory system process
    (GO:0003016)
  • Response to muscle activity involved in regulation of muscle adaptation
    (GO:0014873)
  • Skeletal muscle fiber development
    (GO:0048741)
  • Skeletal muscle satellite cell differentiation
    (GO:0014816)
  • Skeletal muscle satellite cell maintenance involved in skeletal muscle regeneration
    (GO:0014834)

Other Information

Genular Protein ID: 1179458333

Symbol: SELN_HUMAN

Name: N/A

UniProtKB Accession Codes:

Q9NZV5 A6NJG8 A8MQ64 Q6PI70 Q969F6 Q9NUI6

Database IDs:

AGR 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 2 CTD 1 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 EMBL 6 EPD 1 Ensembl 2 ExpressionAtlas 1 GO 17 GeneCards 1 GeneTree 1 GeneWiki 1 Genevisible 1 GenomeRNAi 1 GlyCosmos 1 GlyGen 1 HGNC 2 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 1 KEGG 1 MANE-Select 1 MIM 3 MINT 1 MalaCards 1 MassIVE 1 MaxQB 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 4 OrthoDB 1 PANTHER 2 PRO 1 PROSITE 1 PROSITE-ProRule 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 2 Pumba 1 RNAct 1 RefSeq 2 SAM 1 STRING 1 SignaLink 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 11528383

Title: Mutations in SEPN1 cause congenital muscular dystrophy with spinal rigidity and restrictive respiratory syndrome.

PubMed ID: 11528383

DOI: 10.1038/ng713

PubMed ID: 16710414

Title: The DNA sequence and biological annotation of human chromosome 1.

PubMed ID: 16710414

DOI: 10.1038/nature04727

PubMed ID: 10608886

Title: Novel selenoproteins identified in silico and in vivo by using a conserved RNA structural motif.

PubMed ID: 10608886

DOI: 10.1074/jbc.274.53.38147

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 12700173

Title: Selenoprotein N: an endoplasmic reticulum glycoprotein with an early developmental expression pattern.

PubMed ID: 12700173

DOI: 10.1093/hmg/ddg115

PubMed ID: 16365872

Title: SEPN1: associated with congenital fiber-type disproportion and insulin resistance.

PubMed ID: 16365872

DOI: 10.1002/ana.20761

PubMed ID: 18713863

Title: Selenoprotein N is required for ryanodine receptor calcium release channel activity in human and zebrafish muscle.

PubMed ID: 18713863

DOI: 10.1073/pnas.0806015105

PubMed ID: 19557870

Title: Oxidative stress in SEPN1-related myopathy: from pathophysiology to treatment.

PubMed ID: 19557870

DOI: 10.1002/ana.21644

PubMed ID: 19769461

Title: Selenoproteins and protection against oxidative stress: selenoprotein N as a novel player at the crossroads of redox signaling and calcium homeostasis.

PubMed ID: 19769461

DOI: 10.1089/ars.2009.2890

PubMed ID: 21131290

Title: Satellite cell loss and impaired muscle regeneration in selenoprotein N deficiency.

PubMed ID: 21131290

DOI: 10.1093/hmg/ddq515

PubMed ID: 22527882

Title: Selenoprotein N in skeletal muscle: from diseases to function.

PubMed ID: 22527882

DOI: 10.1007/s00109-012-0896-x

PubMed ID: 24275569

Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.

PubMed ID: 24275569

DOI: 10.1016/j.jprot.2013.11.014

PubMed ID: 25452428

Title: SEPN1, an endoplasmic reticulum-localized selenoprotein linked to skeletal muscle pathology, counteracts hyperoxidation by means of redox-regulating SERCA2 pump activity.

PubMed ID: 25452428

DOI: 10.1093/hmg/ddu602

PubMed ID: 27645994

Title: Selenoprotein gene nomenclature.

PubMed ID: 27645994

DOI: 10.1074/jbc.m116.756155

PubMed ID: 12192640

Title: 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.

PubMed ID: 12192640

DOI: 10.1086/342719

PubMed ID: 15122708

Title: Desmin-related myopathy with Mallory body-like inclusions is caused by mutations of the selenoprotein N gene.

PubMed ID: 15122708

DOI: 10.1002/ana.20077

PubMed ID: 15668457

Title: Rigid spine muscular dystrophy due to SEPN1 mutation presenting as cor pulmonale.

PubMed ID: 15668457

DOI: 10.1212/01.wnl.0000149755.85666.db

PubMed ID: 19067361

Title: A mutation in the SEPN1 selenocysteine redefinition element (SRE) reduces selenocysteine incorporation and leads to SEPN1-related myopathy.

PubMed ID: 19067361

DOI: 10.1002/humu.20879

Sequence Information:

  • Length: 590
  • Mass: 65813
  • Checksum: D7D4D6331652C359
  • Sequence:
    • MGRARPGQRG PPSPGPAAQP PAPPRRRARS LALLGALLAA AAAAAVRVCA RHAEAQAAAR 
QELALKTLGT DGLFLFSSLD TDGDMYISPE EFKPIAEKLT GSCSVTQTGV QWCSHSSLQP 
QLPWLNUSSC LSLLRSTPAA SCEEEELPPD PSEETLTIEA RFQPLLPETM TKSKDGFLGV 
SRLALSGLRN WTAAASPSAV FATRHFQPFL PPPGQELGEP WWIIPSELSM FTGYLSNNRF 
YPPPPKGKEV IIHRLLSMFH PRPFVKTRFA PQGAVACLTA ISDFYYTVMF RIHAEFQLSE 
PPDFPFWFSP AQFTGHIILS KDATHVRDFR LFVPNHRSLN VDMEWLYGAS ESSNMEVDIG 
YIPQMELEAT GPSVPSVILD EDGSMIDSHL PSGEPLQFVF EEIKWQQELS WEEAARRLEV 
AMYPFKKVSY LPFTEAFDRA KAENKLVHSI LLWGALDDQS CUGSGRTLRE TVLESSPILT 
LLNESFISTW SLVKELEELQ NNQENSSHQK LAGLHLEKYS FPVEMMICLP NGTVVHHINA 
NYFLDITSVK PEEIESNLFS FSSTFEDPST ATYMQFLKEG LRRGLPLLQP

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.