SEPN1 Gene
protein-coding GIFtS: 54
GCID: GC01P026126
|
|
selenoprotein N, 1(Previous name: rigid spine muscular dystrophy 1 ) (Previous symbols: RSMD1, MDRS1)
| |
Aliases for SEPN1 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb) About This Section
|
| Aliases |
|---|
| Selenoprotein N, 11 2 | | Rigid Spine Muscular Dystrophy 11 | | RSMD11 2 5 | | SelN3 | | SELN2 3 5 | | CFTD2 | | MDRS11 2 | | Selenoprotein N2 | | RSS1 2 | | SelN3 |
Export aliases for SEPN1 gene to outside databasesPrevious GC identifers: GC01P025606 GC01P025146 GC01P025359 GC01P025731 GC01P025810 GC01P025999 GC01P024383 |
Summaries for SEPN1 gene(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: This gene encodes a selenoprotein, which contains a selenocysteine (Sec) residue at its active site. The selenocysteineis encoded by the UGA codon that normally signals translation termination. The 3' UTR of selenoprotein genes have acommon stem-loop structure, the sec insertion sequence (SECIS), that is necessary for the recognition of UGA as a Seccodon rather than as a stop signal. Mutations in this gene cause the classical phenotype of multiminicore disease andcongenital muscular dystrophy with spinal rigidity and restrictive respiratory syndrome. Two alternatively splicedtranscript variants encoding distinct isoforms have been found for this gene. (provided by RefSeq, Jul 2008) 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 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics) About This Section
| RefSeq DNA sequence:- NC_000001.10 NC_018912.1 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
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: 1p36.13SEPN1 Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different)

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 |
|
Proteins for SEPN1 gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
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
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
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 Q9NUI6Alternative 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
Post-translational modifications:
N-glycosylated (isoform 2)1
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q9NZV5 SEPN1 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins (2 alternative transcripts):
NP_065184.2 NP_996809.1 ENSEMBL proteins: ENSP00000355141 ENSP00000363434 ENSP00000346109 Human Recombinant Protein Products:
Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0005576 | extracellular region |
NAS | -- | | GO:0005789 | endoplasmic reticulum membrane |
IEA | -- |
SEPN1 for ontologies About GeneDecksing
SEPN1 Antibody Products: Assay Products 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:Graphical View of Domain Structure for InterPro Entry Q9NZV5ProtoNet protein and cluster: Q9NZV5 UniProtKB/Swiss-Prot: SELN_HUMAN, Q9NZV5Domain: The N-terminus (first 61 amino acids) contains an endoplasmic reticulum addressing and retention targetingsignalSimilarity: Contains 1 EF-hand domain |
Function for SEPN1 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
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,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Clone Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for SEPN1 (see all 3) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for SEPN1 (see all 2) OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector (see all 2): SEPN1 (NM_020451) | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for SEPN1 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SEPN1  |
In Situ Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SEPN1 |
Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view): About this table
SEPN1 for ontologies About GeneDecksing
3 GenomeRNAi human phenotypes for SEPN1: Animal Models: Mouse knock-out Sepn1tm1.2Mred for SEPN1 4 MGI mutant phenotypes (inferred from 3 alleles ) (MGI details for Sepn1):
SEPN1 for phenotypes About GeneDecksing
|
Pathways & Interactions for SEPN1 gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
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 Mar 2013 via
Entrez Gene).
About This Section
| Unified GeneCards pathways  About this table  See pathways by source
| Super-pathway | contained gene-specific pathways |
|---|
| 1 | Selenium Metabolism and Selenoproteins | | | 2 | Selenium Pathway | |
2 BioSystems Pathways for SEPN1 
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)About this table
Gene Ontology (GO): 1 biological process term (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0008150 | biological_process |
ND | -- |
SEPN1 for ontologies About GeneDecksing
|
Drugs & Compounds for SEPN1 gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, 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 Tocris compounds for SEPN1
2 HMDB Compounds for SEPN1 About this table 3 Novoseek chemical compound relationships for SEPN1 gene About this table
Search CenterWatch for drugs/clinical trials and news about SEPN1 / SELN 
|
Transcripts for SEPN1 gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank, RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
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,
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_0204515 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
Clone Products: |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for SEPN1 (see all 3) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for SEPN1 (see all 2) OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector (see all 2): SEPN1 (NM_020451) | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for SEPN1 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SEPN1  |
Additional cDNA sequence: AF166125.1 AJ306399.1 AK172860.1 AK308457.1 AL110205.1 BC005881.2 BC015638.2 BC021028.2 BC033244.1 BC042154.2 14 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.40194308 DT.75114491 DT.95126344 24/645 AceView cDNA sequences (see all 645): BG222608 AI219105 AI682869 D29164 BU633838 BQ946464 AA347476 BQ889193 CR593585 CR625612 BF858120 AA377025 N44105 CR609063 BU193548 AI033297 AA394149 AI978744 BP372832 AI207069 CR606265 AA613025 AW052023 T64080 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
|
Expression for SEPN1 gene
(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 CGAP TAG: CCCTGTAATA
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, Q9NZV5Tissue specificity: Isoform 1 and isoform 2 are expressed in skeletal muscle, brain, lung and placenta. Isoform 2 isalso expressed in heart, diaphragm and stomach SABiosciences Custom PCR Arrays for SEPN1
Primer Products: |  | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for SEPN1 Browse OriGene validated miRNA SYBR primer pairs
| |  | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat SEPN1 | |  | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat SEPN1 | |  | 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 for SEPN1 gene
(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 3/14 species (see all 14) About this table
| Organism |
Taxonomic classification |
Gene |
Description |
Human Similarity |
Orthology Type |
Details |
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 for SEPN1 gene(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
|
Genomic Variants for SEPN1 gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, 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
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical significance | Chr 1 pos | Sequence | # | AA Chg | Type | More | # | Allele freq | Pop | Total sample | More |
|---|
HapMap Linkage Disequilibrium report for SEPN1 (26126667 - 26144713 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions) Database of Genomic Variants (DGV) variations for SEPN1: -- Human Gene Mutation Database (HGMD): SEPN1
Locus Specific Mutation Databases (LSDB): SEPN1
 | SABiosciences Cancer Mutation PCR Assays |
|  | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing SEPN1 |
|
Disorders
/ Diseases for SEPN1 gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database, Novoseek,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
SEPN1 for disorders About GeneDecksing
OMIM gene information: 606210 OMIM disorders: 602771 UniProtKB/Swiss-Prot: SELN_HUMAN, Q9NZV5
Defects in SEPN1 are the cause of rigid spine muscular dystrophy 1 (RSMD1) [MIM:602771]. A neuromusculardisorder characterized by poor axial muscle strength, scoliosis and neck weakness, and a variable degree of spinalrigidity. Early ventilatory insufficiency can lead to death by respiratory failure 18 diseases for SEPN1: About MalaCardsmuscular dystrophy congenital muscular dystrophy multiminicore disease rigid spine syndrome congenital fiber-type disproportion beckwith-wiedemann syndrome cor pulmonale systemic lupus erythematosus lupus erythematosus myopathy chronic lymphocytic leukemia respiratory failure lymphocytic leukemia insulin resistance ophthalmoplegia mastitis scoliosis leukemia 3 diseases from the University of Copenhagen DISEASES database for SEPN1:Myopathy Neuropathy Malignant hyperthermia 6 Novoseek 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 Multiminicore DiseaseCongenital Fiber-Type Disproportion Human Genome Epidemiology (HuGE) Navigator: SEPN1 (1 document) Export disorders for SEPN1 gene to outside databases
|
Publications for SEPN1 gene (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 |
- 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)
- 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)
- Selenoprotein N: an endoplasmic reticulum glycoprotein with an early developmental expression pattern. (PubMed id 12700173)1, 2, 9 Petit N.... Guicheney P. (2003)
- 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)
- 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)
- The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (2006)
- 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)
- Mutations in SEPN1 cause congenital muscular dystrophy with spinal rigidity and restrictive respiratory syndrome. (PubMed id 11528383)1, 2 Moghadaszadeh B.... Guicheney P. (2001)
- Oxidative stress in SEPN1-related myopathy: from path ophysiology to treatment. (PubMed id 19557870)1, 9 Arbogast S....Ferreiro A. (2009)
- Early onset myopathy with a novel mutation in the Selenoprotein N gene (SEPN1). (PubMed id 15792869)1, 9 Tajsharghi H....Oldfors A. (2005)
|
External Searches for SEPN1 gene
(in PubMed,
OMIM, and NCBI Bookshelf) About This Section
|
|
Genome Databases showing SEPN1 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing SEPN1 gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing SEPN1 gene(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
|
| Name | Description |
| PharmGKB entry for SEPN1 | Pharmacogenomics, SNPs, Pathways | | GeneReviews | http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/SEPN1 |
|
| | |
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
|
Products for SEPN1 gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences), In Situ Hybridization Assays from Advanced Cell Diagnostics About This Section
|
 | |
 | |
 |
| | | | Browse OriGene Antibodies | | OriGene shRNA RFP for SEPN1 | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for SEPN1 | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for SEPN1 | | Browse OriGene Protein Over-expression Lysates | | Browse OriGene Fluorogenic Cell Assay Kits | | OriGene siRNA for SEPN1 | | OriGene 3'-UTR Clone for SEPN1 | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for SEPN1 | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for SEPN1 | | Browse OriGene GFP tagged cDNA clones in CMV expression vector | | Browse OriGene MicroRNA Expression Plasmids | | Browse OriGene basic RS shRNAs | | Browse OriGene validated miRNA SYBR primer pairs | | Browse OriGene full length recombinant human proteins expressed in human HEK293 cells | | OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling | | OriGene Custom Antibody Services for SEPN1 | | OriGene Custom Protein Services for SEPN1 | | OriGene Custom Immunoassay Development | | |
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| | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat SEPN1 | | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing SEPN1 | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SEPN1 | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat SEPN1 | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SEPN1 | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat SEPN1 |
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| | | Search Tocris compounds for SEPN1 |
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 | | SEPN1 Proteins, Antibodies, CLIAs, and ELISAs |
| | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SEPN1 |
|  |  |  | | | Search ThermoFisher Antibodies for SEPN1 |
| | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SEPN1 |
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