Homo sapiens Gene: SEPN1
Summary
InnateDB Gene IDBG-94385.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol SEPN1
Gene Name selenoprotein N, 1
Synonyms
Species Homo sapiens
Ensembl Gene ENSG00000162430
Encoded Proteins
selenoprotein N, 1
selenoprotein N, 1
selenoprotein N, 1
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary 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]
Gene Information
Type Protein coding
Genomic Location Chromosome 1:25800176-25818224
Strand Forward strand
Band p36.11
Transcripts
ENST00000361547 ENSP00000355141
ENST00000354177 ENSP00000346109
ENST00000374315 ENSP00000363434
ENST00000494537
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 1 experimentally validated interaction(s) in this database.
Experimentally validated
Total 1 [view]
Protein-Protein 1 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0003674 molecular_function
GO:0005509 calcium ion binding
GO:0005515 protein binding
Biological Process
GO:0008150 biological_process
Cellular Component
GO:0005789 endoplasmic reticulum membrane
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.323396
RefSeq NM_020451 NM_206926
HUGO
OMIM
CCDS CCDS41282 CCDS41283
HPRD 05867
IMGT
EMBL
GenPept
RNA Seq Atlas