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SEPN1 Gene

protein-coding   GIFtS: 52

GC01P024383
selenoprotein N, 1
(Previous name: rigid spine muscular dystrophy 1 )
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
(Previous symbols: RSMD1, MDRS1)
Products    

Aliases &
Descriptions
for SEPN1 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
About This Section
Aliases & Descriptions
selenoprotein N, 11 2     selenoprotein N2
SELN2 3 5     OTTHUMP000000085072
RSS1 2     FLJ240212
RSMD12 5     MDRS12
selN1     SelN3
rigid spine muscular dystrophy 11     

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

Export aliases for SEPN1 gene to outside databases

Previous GC identifers: GC01P025606 GC01P025146 GC01P025359 GC01P025731 GC01P025810 GC01P025999 GC01P026126


Summaries
for SEPN1 gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for SEPN1:
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)

Gene Wiki entry for SEPN1

Genomic Views
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 60), Regulatory elements and Epigenetics data according to Qiagen and/or SABiosciences)
About This Section
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the SEPN1 gene promoter:
         Tal-1beta   ITF-2   ER-alpha   p300   Tal-1   E47   CUTL1   HNF-4alpha2   FOXC1   AP-4   
         Other transcription factors

   Search SABiosciences Chromatin IP Primers for SEPN1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays for 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 gene densities for chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P024383:  view genomic region     (about GC identifiers)

Start:
 24,383,830 bp from pter
End:
 24,400,647 bp from pter
Size:
 16,818 bases
Orientation:
 plus strand

1 alternative location:
Chr1+ 26,126,667-26,144,713     
RefSeq DNA sequence:
NC_000001.10  NT_004610.19  

Proteins
for SEPN1 gene

(According to 1UniProtKB, neXtProt, and/or Ensembl, Phosphorylation sites according to 2Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Millipore, Sigma-Aldrich, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, and/or ProSpec,
Biochemical Assays by Millipore, Sigma-Aldrich, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Dec 2010 and Entrez Gene, Antibodies by Millipore, Sigma-Aldrich, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, and/or Epitomics)
About This Section
UniProtKB/Swiss-Prot: SELN_HUMAN, Q9NZV5 (See protein sequence)
Recommended Name: Selenoprotein N precursor  
Size: 590 amino acids; 65827 Da
Subcellular location: Isoform 2: Endoplasmic reticulum membrane (Probable). Note=Probably membrane-associated
Sequence caution: Sequence=AAH15638.1; Type=Erroneous initiation; Sequence=AAH42154.1; Type=Erroneous initiation;
Secondary accessions: A6NJG8 A8MQ64 Q6PI70 Q969F6 Q9NUI6
Alternative splicing: 2 isoforms:  Q9NZV5-1   Q9NZV5-2   

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

Post-translational modifications:

  • N-glycosylated (isoform 2)1


    • REFSEQ proteins (2 alternative transcripts): 
    NP_065184.2  NP_996809.1  


    ENSEMBL proteins: 
    ENSP00000355141 ENSP00000355141 ENSP00000346109 ENSP00000363434 


    Human Recombinant Proteins 
    Browse Purified and Recombinant Proteins at Millipore
    Browse Human Recombinant Proteins at Sigma-Aldrich
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    Browse OriGene Protein Over-expression Lysates
    GenScript Custom Purified and Recombinant Proteins Services for SEPN1 
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins

    4 Gene Ontology (GO) cellular component terms (GO ID links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576 extracellular region NAS--
    GO:0005783 endoplasmic reticulum IEA--
    GO:0005789 endoplasmic reticulum membrane IEA--
    GO:0016020 membrane IEA--
    About this table

    SEPN1 for ontologies           About GeneDecksing



    Antibodies for SEPN1: 
    Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Sigma-Aldrich Antibodies for SEPN1
    Browse R&D Systems for Antibodies
    Browse OriGene Antibodies
    GenScript Custom Superior Antibodies Services for SEPN1 
    Browse antibodies at Epitomics

    Assays for SEPN1: 
    Browse Kits and Assays available from Millipore
    Browse ELISAs at Sigma-Aldrich
    OriGene Custom Immunoassay Development 
    Browse OriGene Fluorogenic Cell Assay Kits 
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for SEPN1 
    Browse Enzo Life Sciences for kits & assays
    Uscn ELISAs and CLIAs for SEPN1 

    Protein Domains/
    Families
    for SEPN1 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    SEPN1 for domains           About GeneDecksing

    1 InterPro domain/family:
     IPR018249 EF_HAND_2

    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


    Gene Function
    for SEPN1 gene

    (According to UniProtKB, IUBMB,and/or Genatlas, Animal models from MGI Dec 24 2010,
    shRNA from OriGene, Sigma-Aldrich, RNAi from Millipore, siRNAs from Sigma-Aldrich, OriGene, Qiagen, Super-pooled esiRNAs from Sigma-Aldrich, microRNA from Sigma-Aldrich, Qiagen, SABiosciences, Clones from Millipore, Sigma-Aldrich, OriGene, GenScript, Sino Biological, Cell Lines from GenScript, Ontologies according to Gene Ontology Consortium 01 Dec 2010 via Entrez Gene.)
    About This Section
    Inhib.
    RNA:            		Browse for Gene Knock-down Tools from Millipore
    Browse Nano Scale siRNA at Sigma-Aldrich
    Sigma-Aldrich esiRNA and siRNA for SEPN1
    Sigma-Aldrich shRNA for SEPN1
    OriGene 29mer shRNA kits in GFP-retroviral vector (see all 2): SEPN1
    OriGene shRNA RFP (see all 2): SEPN1
    OriGene basic RS shRNA (see all 2): SEPN1
    OriGene siRNA (see all 2): SEPN1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing of SEPN1 
    miRNA:Browse microRNA Mimics at Sigma-Aldrich
    Browse microRNA target validation systems at Sigma-Aldrich 
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of SEPN1 
    7 SABiosciences Assays for microRNAs that regulate SEPN1:
    hsa-miR-320a hsa-miR-320b hsa-miR-27a hsa-miR-320d hsa-miR-320c hsa-miR-27b hsa-miR-1291

    Gene
    Editing:    		Browse CompoZr Knockout ZFN at Sigma-Aldrich 

    Clones:Browse Clones for the Expression of Recombinant Proteins Available from Millipore
    Browse iPSC Reprogramming Factors at Sigma-Aldrich
    OriGene GFP tagged cDNA clones in CMV expression vector (see all 2): SEPN1
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector (see all 2): SEPN1
    OriGene untagged cDNA clones in CMV expression vector (see all 2): SEPN1
    OriGene 3'-UTR clone (see all 2): SEPN1 
    Browse MicroRNA Expression Plasmids 
    GenScript cDNA clones with any tag delivered in your preferred vector (see all 2): SEPN1 
    Browse Sino Biological Human cDNA Clones

    Cell
    Lines:          		GenScript Custom overexpressing Cell Line Services for SEPN1 

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003674 molecular_function ND--
    GO:0005509 calcium ion binding ----
    GO:0005515 protein binding IPI17474147
    About this table

    SEPN1 for ontologies           About GeneDecksing


    Pathways & Interactions
    for SEPN1 gene

    (Pathways according to Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB, Sets of similar genes according to GeneDecks, PCR Arrays from SABiosciences, Proteins Network according to SABiosciences, Sigma-Aldrich, Interactions according to 1UniProtKB, 2MINT, and/or 3STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Dec 2010 via Entrez Gene).
    About This Section

        SABiosciences Custom Pathway-Focused PCR Arrays for SEPN1 

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

    5 Interacting proteins for SEPN1 (Q9NZV51, 2) via UniProtKB, MINT, and/or STRING
    InteractantInteraction Details
    GeneCardExternal ID(s)
    NCK1P163331, 2EBI-1751965,EBI-389883 MINT-7249534 MINT-7247662
    ABL1P005191, 2EBI-1751965,EBI-375543 MINT-7243450
    FYNP062411, 2EBI-1751965,EBI-515315 MINT-7246282
    SRCP129311, 2EBI-1751965,EBI-621482 MINT-7245430
    GRB2P629931EBI-1751965,EBI-401755
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008150 biological_process ND--
    About this table

    SEPN1 for ontologies           About GeneDecksing



    Drugs & Compounds
    for SEPN1 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
    About This Section

    SEPN1 for compounds           About GeneDecksing

    Browse Small Molecules at Sigma-Aldrich
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for SEPN1
    3 Novoseek chemical compound relationships for SEPN1 gene
    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)
    About this table



    Transcripts
    for SEPN1 gene

    (GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 228 Homo sapiens; Dec 8 2010) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    non coding RNAs according to RNAdb,
    ESTs according to GeneTide,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from Millipore,
    siRNAs from Sigma-Aldrich, OriGene, Qiagen, Super-pooled esiRNAs from Sigma-Aldrich,
    shRNA from Sigma-Aldrich, OriGene, microRNA from Sigma-Aldrich, Qiagen, SABiosciences,
    Tagged/untagged cDNA clones from OriGene, Sigma-Aldrich, GenScript, Primers from OriGene and/or SABiosciences)
    About This Section
    Inhib.
    RNA:             		Browse for Gene Knock-down Tools from Millipore
    Browse Nano Scale siRNA at Sigma-Aldrich
    Sigma-Aldrich esiRNA and siRNA for SEPN1
    Sigma-Aldrich shRNA for SEPN1
    OriGene 29mer shRNA kits in GFP-retroviral vector (see all 2): SEPN1
    OriGene shRNA RFP (see all 2): SEPN1
    OriGene basic RS shRNA (see all 2): SEPN1
    OriGene siRNA (see all 2): SEPN1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing of SEPN1 
    miRNA: Browse microRNA Mimics at Sigma-Aldrich
    Browse microRNA target validation systems at Sigma-Aldrich 
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of SEPN1 
    7 SABiosciences Assays for microRNAs that regulate SEPN1:
    hsa-miR-320a hsa-miR-320b hsa-miR-27a hsa-miR-320d hsa-miR-320c hsa-miR-27b hsa-miR-1291
    Clones: Browse FLAG tag genes at Sigma-Aldrich
    OriGene GFP tagged cDNA clones in CMV expression vector (see all 2): SEPN1
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector (see all 2): SEPN1
    OriGene untagged cDNA clones in CMV expression vector (see all 2): SEPN1
    OriGene 3'-UTR Clone (see all 2): SEPN1 
    Browse OriGene MicroRNA Expression Plasmids 
    GenScript cDNA clones with any tag delivered in your preferred vector (see all 2): SEPN1 
    Primers: OriGene genome-wide validated SYBR primer pairs: SEPN1
    Browse OriGene validated miRNA SYBR primer pairs 
    SABiosciences RT2 qPCR Primer Assay for SEPN1: PPH05769A

    REFSEQ mRNAs for SEPN1 gene (2 alternative transcripts): 

    NM_020451.2  NM_206926.1  

    Additional cDNA sequence: 

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

    12 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.95126344 

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

    N67656 BG222608 AI219105 AA347476 D29164 BQ946464 BU633838 CR593585 
    CR625612 BF858120 AA377025 CR609063 N44105 AI033297 BU193548 AA394149 
    BP372832 AI207069 AI978744 CR606265 AW052023 AA613025 T64080 BM556367 

    highest scoring ESTs for SEPN1:

    AA080904 AA172124 AA180411 AA226808 AA243221 AA326083 AA347838 AA359923 AA658343 AF166125 

    Unigene Cluster for SEPN1:

    Selenoprotein N, 1
    Hs.323396  [show with all ESTs]
    Unigene Representative Sequence: NM_020451


    GeneLoc Exon Structure

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

    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:                    -     -                                                                                                   

    About this scheme

    ECgene alternative splicing isoforms for SEPN1
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000494537 ENST00000361547(uc010oer.1 uc010oes.1 uc010oer.1 uc010oes.1)
    ENST00000361547(uc010oer.1 uc010oes.1 uc010oer.1 uc010oes.1)
    ENST00000354177 ENST00000374315

    Expression
    for SEPN1 gene

    (Experimental results according to 1GeneNote and GNF BioGPS,
    probe sets-to-genes annotations according to 2GeneAnnot , 3GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 228 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
    Primers from OriGene and/or SABiosciences )
    About This Section

    SEPN1 expression in normal and diseased human tissues

    1  / 2  / 3

    4 probe-sets matching SEPN1 gene

    Affymetrix
    probe-set    		 Array  GeneAnnot data GeneNote data GeneTide data
    # genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank
    57716_at2, 3 U95-B 1 1.00 1.00 0.90 1.11 AI141739 0.80 0.62 0.72 1
    65964_at2, 3 U95-C 1 1.00 1.00 0.88 0.89 AA203147 0.80 0.62 0.72 1
    224659_at2 U133-B 1 1.00 1.00 -- -- -- -- -- -- --
    224659_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --
    About this table

    SEPN1 for expression           About GeneDecksing

    Data from Genenote  (Publications) and GNF BioGPS
        About these images
    SEPN1 gene expression
    SEPN1 gene electronic northern expression
    SEPN1 gene sage expression
    About these images

    CGAP SAGE TAG: CCCTGTAATA

    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

    Primers: OriGene genome-wide validated SYBR primer pairs: SEPN1
    Browse OriGene validated miRNA SYBR primer pairs 
    SABiosciences RT2 qPCR Primer Assay for SEPN1: PPH05769A
        SABiosciences Custom PCR Arrays for SEPN1 


    Orthologs
    for SEPN1 gene

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD and/or 5MGI Dec 24 2010, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
    About This Section
    Orthologs for SEPN1 gene from 5 species
    Organism Gene Locus Description Human
    Similarity    		 NCBI accessions
    mouse
    (Mus musculus)    		 Sepn11 , 5 4 (66.85 cM)5
    		 selenoprotein N, 11, 5 86.85(n)1
    89.73(a)1    		 747771  NM_029100.21  NP_083376.21 
     AI4144925  AI8429665  (see all 16)
    chicken
    (Gallus gallus)    		 SEPN11   -- selenoprotein N, 1 73.76(n)
    76.68(a)    		 419587  XM_417734.2  XP_417734.2 
    zebrafish
    (Danio rerio)    		 sepn12   -- selenoprotein N, 1 79.03(n) 352914  AY221262.1 
    tropical clawed frog
    (Silurana tropicalis)    		 LOC3948592   -- hypothetical protein LOC394859 76.63(n)  BC063905.1 
    sea squirt
    (Ciona intestinalis)    		 Cin.133362   -- Ciona intestinalis cDNA, cloneciad037c06, full insert more 74.42(n)  AK112355.1 
    About this table        Species with no ortholog for SEPN1

    ENSEMBL Gene Tree for SEPN1 (if available)

    Paralogs
    for SEPN1 gene

    (Paralogs according to 1HomoloGene
    and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
    About This Section
    		  --

    Genomic Variants
    for SEPN1 gene

    (SNPs according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Resequencing Primers from Qiagen)
    About This Section

    10/234 NCBI SNPs in SEPN1 are shown (see all 234)
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidChr 1 posSequenceRecsAA
    Chg    		TypeMoreRecsAllele
    freq    		PopTotal
    sample    		More
    ----------
    rs7183911,2
    		C,F,A,H,26125834(-) TGCCTC/GTCAAT 2 -- ng5114Minor allele frequency- G:0.47NA NS EA WA 790
    rs7338591,2
    		--26137615(+) CCCTGT/GGACCC 2 -- int11Minor allele frequency- G:0.00MN 184
    rs7338601,2
    		--26137622(-) TCAAGG/CCGGGT 2 -- int12Minor allele frequency- C:0.00NA 166
    rs7605971,2
    		C,A,H,26138262(-) CCTGAA/C/GGGCAG 6 P syn1 ref1 ese313MN EA NA WA 2084
    rs7605981,2
    		C,F,A,H,26138136(-) GGCAAT/GAATCC 2 -- int19Minor allele frequency- G:0.23NA EA WA 222
    rs10622561,2
    		--26142812(+) ATCAGA/TCGGGA 2 -- ut31 ese30--------
    rs10622631,2
    		--26143719(+) tttttG/Tttttg 2 -- ut310--------
    rs20727491,2
    		C,F,26131021(-) AGTATA/GGAAGG 2 -- int112Minor allele frequency- G:0.32EA NS NA WA 2242
    rs22809971,2
    		C,A,26135741(-) TGGGAG/CGAGAG 2 -- int1 trp35Minor allele frequency- C:0.30EA NA 1064
    rs22942281,2
    		C,F,A,H,26140573(-) TCCTGT/GTTGTT 4 /K /N mis1 ref111Minor allele frequency- G:0.11EA NS NA 1984
    About this table

    HapMap Linkage Disequilibrium images for SEPN1 (up to first 250kb)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for SEPN1: --

    QIAGEN SeqTarget long-range PCR primers for resequencing SEPN1 

    Disorders & Mutations
    for SEPN1 gene

    (in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, LSDB, HGMD, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    SEPN1 for disorders           About GeneDecksing

    OMIM: 606210   disorders: 602771  

    UniProtKB/Swiss-Prot: SELN_HUMAN, Q9NZV5

  • Defects in SEPN1 are the cause of myopathy SEPN-related (SEPNM) [MIM:602771]. A group of neuromuscular
    • disorders consisting of four nosological entities: classic multiminicore disease (MmD), rigid spine muscular dystrophy
    1 syndrome (RSMD1), desmin-related myopathy with Mallory body-like inclusions (MB-DRM) and congenital fiber-type
    disproportion. All are clinically 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

    6 Novoseek disease relationships for SEPN1 gene

    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)
    About this table

    GeneTests: SEPN1
    Congenital Fiber-Type Disproportion

    Locus Specific Mutation Databases (LSDB): SEPN1
    Human Gene Mutation Database (HGMD): SEPN1
    Human Genome Epidemiology (HuGE) Navigator: SEPN1 (1 document)

    Export disorders and mutations for SEPN1 gene to outside databases

    Medical News
    for SEPN1 gene

    (Possibly Related Articles in Doctor's Guide)
    About This Section
    		   --

    Publications
    for SEPN1 gene

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

    10/38 PubMed articles for SEPN1 gene, integrated from 7 sources (see all 38):
    (articles sorted by number of sources associating them with SEPN1)
    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, 7 Maiti B....Howard M.T. (2009)
    3. Selenoprotein N: an endoplasmic reticulum glycoprotein with an early developmental expression pattern. (PubMed id 12700173)1, 2, 7 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, 7 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, 7 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, 7 Arbogast S....Ferreiro A. (2009)
    10. Early onset myopathy with a novel mutation in the Selenoprotein N gene (SEPN1). (PubMed id 15792869)1, 7 Tajsharghi H....Oldfors A. (2005)

    External Searches for SEPN1 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
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    Genome Databases showing SEPN1 gene

    (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

    Other Databases showing SEPN1 gene

    (According to HUGE)
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    Specialized Databases showing SEPN1 gene

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

    Intellectual Property
    for SEPN1 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from XenneX, Inc.)
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    		Patent Information for SEPN1 gene:
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    Products
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     ELISAs and CLIAs for SEPN1
           

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