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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

SEPN1 Gene

protein-coding   GIFtS: 56
GCID: GC01P026126

Selenoprotein N, 1

(Previous name: rigid spine muscular dystrophy 1)
(Previous symbols: RSMD1, MDRS1)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Selenoprotein N, 11 2     CFTD2
RSMD11 2 5     RSS2
SELN2 3 5     Selenoprotein N2
MDRS11 2     SelN3
Rigid Spine Muscular Dystrophy 11     

External Ids:    HGNC: 159991   Entrez Gene: 571902   Ensembl: ENSG000001624307   OMIM: 6062105   UniProtKB: Q9NZV53   

Export aliases for SEPN1 gene to outside databases

Previous GC identifers: GC01P025606 GC01P025146 GC01P025359 GC01P025731 GC01P025810 GC01P025999 GC01P024383


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for SEPN1 Gene:
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. Mutations in this gene cause the classical
phenotype of multiminicore disease and congenital muscular dystrophy with spinal rigidity and restrictive
respiratory syndrome. Two alternatively spliced transcript variants encoding distinct isoforms have been found
for this gene. (provided by RefSeq, Jul 2008)

GeneCards Summary for SEPN1 Gene: 
SEPN1 (selenoprotein N, 1) is a protein-coding gene. Diseases associated with SEPN1 include sepn1-related myopathy, and multiminicore disease. GO annotations related to this gene include protein binding and molecular_function. An important paralog of this gene is ENSG00000255054.

Gene Wiki entry for SEPN1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000001.10  NC_018912.2  NT_004610.19  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the SEPN1 gene promoter:
         E2F-4   E2F-3a   E2F-5   Pax-5   E2F-2   Nkx2-5   C/EBPalpha   E2F   E2F-1   c-Myb   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for SEPN1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SEPN1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 1p36.13   Ensembl cytogenetic band:  1p36.11   HGNC cytogenetic band: 1p36.13

SEPN1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SEPN1 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P026126:  view genomic region     (about GC identifiers)

Start:
26,126,667 bp from pter      End:
26,144,713 bp from pter
Size:
18,047 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: SELN_HUMAN, Q9NZV5 (See protein sequence)
Recommended Name: Selenoprotein N precursor  
Size: 590 amino acids; 65813 Da
Subcellular location: Isoform 2: Endoplasmic reticulum membrane (Probable). Note=Probably membrane-associated
Sequence caution: Sequence=AAH15638.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Sequence=AAH42154.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Secondary accessions: A6NJG8 A8MQ64 Q6PI70 Q969F6 Q9NUI6
Alternative splicing: 2 isoforms:  Q9NZV5-1   Q9NZV5-2   (The UGA codon present in position 462 is either a selenocysteine or a real stop codon)

Explore the universe of human proteins at neXtProt for SEPN1: NX_Q9NZV5

Explore proteomics data for SEPN1 at MOPED 

Post-translational modifications:

  • UniProtKB: N-glycosylated (isoform 2)
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9NZV5

  • SEPN1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    SEPN1 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_065184.2  NP_996809.1  

    ENSEMBL proteins: 
     ENSP00000355141   ENSP00000363434   ENSP00000346109  

    Human Recombinant Protein Products for SEPN1: 
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    Cloud-Clone Corp. Proteins for SEPN1 

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region NAS--
    GO:0005789endoplasmic reticulum membrane IEA--

    SEPN1 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    EFHAND: EF-hand domain containing

    1 InterPro protein domain:
     IPR002048 EF_hand_dom

    Graphical View of Domain Structure for InterPro Entry Q9NZV5

    ProtoNet protein and cluster: Q9NZV5

    UniProtKB/Swiss-Prot: SELN_HUMAN, Q9NZV5
    Domain: The N-terminus (first 61 amino acids) contains an endoplasmic reticulum addressing and retention targeting
    signal
    Similarity: Contains 1 EF-hand domain


    SEPN1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

         Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003674molecular_function ND--
    GO:0005509calcium ion binding IEA--
    GO:0005515protein binding IPI17474147
         
    SEPN1 for ontologies           About GeneDecksing


    Phenotypes:
         3 GenomeRNAi human phenotypes for SEPN1:
     Decreased TP53 protein express  Decreased viability with pacli  Increased cell number in G2M,  

         4 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Sepn1):
     growth/size  muscle  normal  skeleton 

    SEPN1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Sepn1tm1.2Mred for SEPN1

       inGenious Targeting Laboratory - Custom generated mouse model solutions for SEPN1 
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    SwitchGear 3'UTR luciferase reporter plasmidSEPN1 3' UTR sequence
    Inhib. RNA
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for SEPN1 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Selenium Metabolism and Selenoproteins
    Selenium Metabolism and Selenoproteins
    2Selenium Pathway
    Selenium Pathway


    2 BioSystems Pathways for SEPN1
        Selenium Metabolism and Selenoproteins
    Selenium Pathway


    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for SEPN1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 7)

    5/7 Interacting proteins for SEPN1 (Q9NZV51, 3 ENSP000003551414) via UniProtKB, MINT, STRING, and/or I2D (see all 7)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    NCK1P163331, 3, ENSP000002889864EBI-1751965,EBI-389883 I2D: score=1 STRING: ENSP00000288986
    ABL1P005193, ENSP000003614234I2D: score=1 STRING: ENSP00000361423
    FYNP062413, ENSP000003576564I2D: score=1 STRING: ENSP00000357656
    SRCP129313, ENSP000003509414I2D: score=1 STRING: ENSP00000350941
    GRB2P629933, ENSP000003390074I2D: score=1 STRING: ENSP00000339007
    About this table

    Gene Ontology (GO): 1 biological process term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008150biological_process ND--

    SEPN1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    SEPN1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for SEPN1 (SELN)

    2 HMDB Compounds for SEPN1    About this table
    CompoundSynonyms CAS #PubMed Ids
    Seleniumselenium (see all 5)7782-49-2--
    Selenocysteine(2R)-2-amino-3-selanylpropanoate (see all 8)3614-08-2--

    3 Novoseek inferred chemical compound relationships for SEPN1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    selenocysteine 80.2 16 19067361 (3), 16498447 (2), 18025044 (1), 12700173 (1) (see all 5)
    ryanodine 54.1 2 16380615 (1), 17631035 (1)
    calcium 17.1 2 19769461 (1), 19285112 (1)

    Search CenterWatch for drugs/clinical trials and news about SEPN1 / SELN

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for SEPN1 gene (2 alternative transcripts): 
    NM_020451.2  NM_206926.1  

    Unigene Cluster for SEPN1:

    Selenoprotein N, 1
    Hs.323396  [show with all ESTs]
    Unigene Representative Sequence: NM_020451
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000361547(uc021ojk.1 uc021ojl.1 uc021ojk.1 uc021ojl.1)
    ENST00000361547(uc021ojk.1 uc021ojl.1 uc021ojk.1 uc021ojl.1)
    ENST00000374315 ENST00000494537 ENST00000354177
    miRNA
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    hsa-miR-193a-3p hsa-miR-328 hsa-miR-570 hsa-miR-3167 hsa-miR-629* hsa-miR-4257 hsa-miR-193b hsa-miR-203
    SwitchGear 3'UTR luciferase reporter plasmidSEPN1 3' UTR sequence
    Inhib. RNA
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    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SEPN1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SEPN1
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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SEPN1

    Additional mRNA sequence: 

    AF166125.1 AJ306399.1 AK172860.1 AK308457.1 AL110205.1 BC005881.2 BC015638.2 BC021028.2 
    BC033244.1 BC042154.2 

    13 DOTS entries:

    DT.87002383  DT.450589  DT.87046673  DT.121338289  DT.100036559  DT.91965654  DT.100879178  DT.121338250 
    DT.100879179  DT.121338280  DT.40237451  DT.75114491  DT.95126344 

    24/645 AceView cDNA sequences (see all 645):

    AW052023 BM556367 AA394149 AI627543 BM789037 BU632983 CR593585 BU193548 
    BM969607 N44105 CR606265 BU633838 AA613025 BM854621 BQ233243 BU623151 
    AW732010 CR609063 NM_206926 AA447924 CR625612 AI207069 AI978744 D29164 

    GeneLoc Exon Structure

    5/6 Alternative Splicing Database (ASD) splice patterns (SP) for SEPN1 (see all 6)    About this scheme

    ExUns: 1 ^ 2a · 2b ^ 3 ^ 4a · 4b ^ 5a · 5b · 5c ^ 6a · 6b · 6c ^ 7 ^ 8 ^ 9a · 9b · 9c ^ 10 ^ 11 ^ 12 ^ 13
    SP1:                                                                                                                              
    SP2:                                                                                                                              
    SP3:                          -                                                                                                   
    SP4:                    -     -                                                                                                   
    SP5:                    -     -                                                                                                   


    ECgene alternative splicing isoforms for SEPN1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    SEPN1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CCCTGTAATA
    SEPN1 Expression
    About this image


    See SEPN1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SEPN1

    SOURCE GeneReport for Unigene cluster: Hs.323396

    UniProtKB/Swiss-Prot: SELN_HUMAN, Q9NZV5
    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

        SABiosciences Custom PCR Arrays for SEPN1
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    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SEPN1
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SEPN1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for SEPN1 gene from 4/12 species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Sepn11 , 5 selenoprotein N, 11, 5 86.85(n)1
    89.73(a)1
      4 (66.85 cM)5
    747771  NM_029100.21  NP_083376.21 
     1345378925 
    chicken
    (Gallus gallus)
    Aves SEPN11 selenoprotein N, 1 74.76(n)
    77.61(a)
      419587  NM_001114972.1  NP_001108444.1 
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia LOC3948592 hypothetical protein LOC394859 76.63(n)    BC063905.1 
    zebrafish
    (Danio rerio)
    Actinopterygii sepn12 selenoprotein N, 1 79.03(n)   352914  AY221262.1 


    ENSEMBL Gene Tree for SEPN1 (if available)
    TreeFam Gene Tree for SEPN1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for SEPN1 gene
    ENSG000002550542  

    SEPN1 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/1032 SNPs in SEPN1 are shown (see all 1032)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0196394
    Rigid spine muscular dystrophy 1 (RSMD1)4--see VAR_0196392 W S mis40--------
    VAR_0196364
    Rigid spine muscular dystrophy 1 (RSMD1)4--see VAR_0196362 H R mis40--------
    VAR_0196384
    Rigid spine muscular dystrophy 1 (RSMD1)4--see VAR_0196382 N I mis40--------
    VAR_0196374
    Rigid spine muscular dystrophy 1 (RSMD1)4--see VAR_0196372 G S mis40--------
    VAR_0584634
    Rigid spine muscular dystrophy 1 (RSMD1)4--see VAR_0584632 R Q mis40--------
    VAR_0196404
    Rigid spine muscular dystrophy 1 (RSMD1)4--see VAR_0196402 G mis40--------
    VAR_0196414
    Rigid spine muscular dystrophy 1 (RSMD1)4--see VAR_0196412 R Q mis40--------
    VAR_0584644
    Rigid spine muscular dystrophy 1 (RSMD1)4--see VAR_0584642 R W mis40--------
    VAR_0584624
    Rigid spine muscular dystrophy 1 (RSMD1)4--see VAR_0584622 G V mis40--------
    VAR_0196354
    Rigid spine muscular dystrophy 1 (RSMD1)4--see VAR_0196352 G E mis40--------

    HapMap Linkage Disequilibrium report for SEPN1 (26126667 - 26144713 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 8 variations for SEPN1:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2742604CNV Deletion23290073
    esv2353706CNV Deletion18987734
    esv2745652CNV Deletion23290073
    dgv24e201CNV Deletion23290073
    nsv834491CNV Loss17160897
    nsv7490CNV Loss18451855
    nsv460884CNV Loss19166990
    nsv871186CNV Gain21882294


    Human Gene Mutation Database (HGMD): SEPN1

    Locus Specific Mutation Databases (LSDB): SEPN1
    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 606210   
    OMIM disorders: 602771  
    UniProtKB/Swiss-Prot: SELN_HUMAN, Q9NZV5
  • 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. Note=The disease is caused by mutations affecting the
    gene represented in this entry

  • 20/24 diseases for SEPN1 (see all 24):    About MalaCards
    sepn1-related myopathy    multiminicore disease    muscular dystrophy, rigid spine, 1    classic multiminicore myopathy
    sepn1-related congenital fiber-type disproportion    congenital fiber-type disproportion    sepn1-related multiminicore disease    rigid spine syndrome
    congenital muscular dystrophy    muscular dystrophy    cor pulmonale    mastitis
    malignant hyperthermia    respiratory failure    ophthalmoplegia    scoliosis
    beckwith-wiedemann syndrome    myopathy    chronic lymphocytic leukemia    insulin resistance

    3 diseases from the University of Copenhagen DISEASES database for SEPN1:
    Myopathy     Neuropathy     Malignant hyperthermia

    SEPN1 for disorders           About GeneDecksing

    6 Novoseek inferred disease relationships for SEPN1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    desmin-related myopathy 93.5 2 15792869 (1), 16779558 (1)
    myopathy, congenital 92.5 3 15792869 (1), 16498447 (1)
    rigid spine syndrome 88.9 4 16779558 (2), 12192640 (1)
    central core disease 87.7 3 16380615 (1), 17365175 (1), 17631035 (1)
    muscular dystrophies 82.6 7 12192640 (1), 17123513 (1), 12700173 (1), 15122708 (1) (see all 7)
    myopathy 80.8 26 19067361 (3), 19769461 (2), 15792869 (2), 17123513 (1) (see all 11)

    GeneTests: SEPN1
    GeneReviews: SEPN1
    Human Genome Epidemiology (HuGE) Navigator: SEPN1 (1 document)

    Export disorders for SEPN1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for SEPN1 gene, integrated from 9 sources (see all 47):
    (articles sorted by number of sources associating them with SEPN1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Novel selenoproteins identified in silico and in vivo by using a conserved RNA structural motif. (PubMed id 10608886)1, 2, 3 Lescure A.... Krol A. (1999)
    2. A mutation in the SEPN1 selenocysteine redefinition element (SRE) reduces selenocysteine incorporation and leads to SEPN1-related myopathy. (PubMed id 19067361)1, 2, 9 Maiti B....Howard M.T. (2009)
    3. Selenoprotein N: an endoplasmic reticulum glycoprotein with an early developmental expression pattern. (PubMed id 12700173)1, 2, 9 Petit N.... Guicheney P. (2003)
    4. Desmin-related myopathy with Mallory body-like inclusions is caused by mutations of the selenoprotein N gene. (PubMed id 15122708)1, 2, 9 Ferreiro A.... Bonnemann C.G. (2004)
    5. 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)1, 2, 9 Ferreiro A.... Guicheney P. (2002)
    6. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (2006)
    7. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    8. Mutations in SEPN1 cause congenital muscular dystrophy with spinal rigidity and restrictive respiratory syndrome. (PubMed id 11528383)1, 2 Moghadaszadeh B.... Guicheney P. (2001)
    9. Oxidative stress in SEPN1-related myopathy: from path ophysiology to treatment. (PubMed id 19557870)1, 9 Arbogast S....Ferreiro A. (2009)
    10. Early onset myopathy with a novel mutation in the Selenoprotein N gene (SEPN1). (PubMed id 15792869)1, 9 Tajsharghi H....Oldfors A. (2005)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
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    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 57190 HGNC: 15999 AceView: LOC56181 Ensembl:ENSG00000162430 euGenes: HUgn57190
    ECgene: SEPN1 H-InvDB: SEPN1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for SEPN1 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/SEPN1

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for SEPN1 gene:
    Search GeneIP for patents involving SEPN1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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