Version 5.4
Homo sapiens Protein: SEPN1
Summary
InnateDB Protein IDBP-94387.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol SEPN1
Protein Name selenoprotein N, 1
Synonyms
Species Homo sapiens
Ensembl Protein ENSP00000355141
InnateDB Gene IDBG-94385 (SEPN1)
Protein Structure
UniProt Annotation
Function
Subcellular Localization Isoform 2: Endoplasmic reticulum membrane {ECO:0000305}. Note=Probably membrane-associated.
Disease Associations 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. {ECO:0000269PubMed:11528383, ECO:0000269PubMed:12192640, ECO:0000269PubMed:15122708, ECO:0000269PubMed:19067361}. Note=The disease is caused by mutations affecting the gene represented in this entry.
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. {ECO:0000269PubMed:11528383, ECO:0000269PubMed:12700173}.
Comments
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
Protein Structure and Domains
PDB ID
InterPro IPR002048 EF-hand domain
PFAM PF00036
PF13202
PF13405
PRINTS
PIRSF
SMART SM00054
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q9NZV5
PhosphoSite PhosphoSite-Q9NZV5
TrEMBL D3DPJ3
UniProt Splice Variant
Entrez Gene 57190
UniGene Hs.323396
RefSeq NP_065184
HUGO HGNC:15999
OMIM 606210
CCDS CCDS41282
HPRD 05867
IMGT
EMBL AF166125 AJ306398 AJ306399 AL020996 BC015638 BC042154 CH471059
GenPept AAF21430 AAH15638 AAH42154 CAC83790 CAC83791 EAX07864 EAX07869

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca