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Sepn1
Gene Detail
Symbol

Name
ID
Sepn1
selenoprotein N, 1
MGI:2151208
Synonyms
1110019I12Rik
Feature Type
protein coding gene
Genetic Map
Chromosome 4
66.85 cM, cytoband D3
Detailed Genetic Map ± 1 cM


Mapping data(3)
Sequence Map
Chr4:134537892-134552166 bp, - strand
From VEGA annotation of GRCm38

  14275 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:10723  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog; 1 zebrafish

HCOP human homology predictions: SEPN1
Gene Tree: Sepn1

Human
homologs
SEPN1, selenoprotein N, 1
Orthology source: HomoloGene

IDs:
NCBI Gene ID: 57190
neXtProt AC: NX_Q9NZV5

Human Synonyms: CFTD, MDRS1, RSMD1, RSS, SELN

Human Chr (Location): 1p36.13; chr1:25800176-25818222 (+)  GRCh38.p2

Disease Associations: (2) Diseases Associated with Human SEPN1

Mutations,
alleles, and
phenotypes
All mutations/alleles(6) : Targeted(6)
Genomic Mutations involving Sepn1 (1)
Incidental mutations (data from Mutagenetix , APF , CvDC )
 
Mice homozygous for a knock-out allele exhibit satellite cell loss and impaired muscle regeneration. Mice homozygous for a different knock-out allele exhibit subtle core lesions in skeletal muscle after induced oxidative stress and abnormal lung development.
 
Human Diseases Modeled in Mice Using Sepn1 (1)    Mutations Annotated to Human Diseases (1)   
Interactions
Sepn1 interacts with 218 markers (Mir1a-1, Mir1a-2, Mir9-1, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (14 annotations)
Process cellular response to caffeine, cellular response to oxidative stress, ...
Component endoplasmic reticulum membrane
Function molecular_function
External Resources: FuncBase
Expression
Literature Summary: (2 records)
Data Summary: Results (165)    Tissues (55)    Images (31)    Tissue x Stage Matrix (view)
Assay TypeResults
RNA in situ 55
Northern blot 2
Western blot 42
RT-PCR 66
cDNA source data(75)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: Xenbase sepn1 ; ZFIN sepn1    NEW 
Molecular
reagents
All nucleic(78) cDNA(75) Primer pair(3)
Microarray probesets(3)
Other database
links
VEGA Gene Model OTTMUSG00000011213 (Evidence)
Ensembl Gene Model ENSMUSG00000050989 (Evidence)
Entrez Gene 74777 (Evidence)
UniGene 29773
DFCI TC1576602, TC1627890, TC1678699, TC1630744
DoTS DT.110790954, DT.94373166, DT.532817
NIA Mouse Gene Index U025644
Consensus CDS Project CCDS38917.1
International Mouse Phenotyping Consortium Status Sepn1
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000011213 VEGA Gene Model | MGI Sequence Detail 14275 C57BL/6J ±  kb
transcript OTTMUST00000026309 VEGA | MGI Sequence Detail 3445 Not Applicable 
polypeptide OTTMUSP00000012033 VEGA | MGI Sequence Detail 557 Not Applicable 

For the selected sequences
All sequences(35) RefSeq(2) UniProt(3)
Polymorphisms
SNPs within 2kb(114 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR002048 EF-hand domain
References
(Earliest) J:65060 Kawai J, et al., Functional annotation of a full-length mouse cDNA collection. Nature. 2001 Feb 8;409(6821):685-90
(Latest) J:219362 Marino M, et al., SEPN1, an endoplasmic reticulum-localized selenoprotein linked to skeletal muscle pathology, counteracts hyperoxidation by means of redox-regulating SERCA2 pump activity. Hum Mol Genet. 2015 Apr 1;24(7):1843-55
All references(35)
Disease annotation references (1)
Other
accession IDs
MGI:1922027, MGI:2140256

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
07/28/2015
MGI 5.22
The Jackson Laboratory