SEPN1 [The Human Chemical-Genetic Interaction Map Project]

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======= SEPN1 =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: SELENON
  * **<color #00a2e8>Official Name</color>**: selenoprotein N
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=57190|57190]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/Q9NZV5|Q9NZV5]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=SEPN1&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20SEPN1|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/606210|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**:  This gene encodes a glycoprotein that is localized in the endoplasmic reticulum. It plays an important role in cell protection against oxidative stress, and in the regulation of redox-related calcium homeostasis. Mutations in this gene are associated with early onset muscle disorders, referred to as SEPN1-related myopathy. SEPN1-related myopathy consists of 4 autosomal recessive disorders, originally thought to be separate entities: rigid spine muscular dystrophy (RSMD1), the classical form of multiminicore disease, desmin related myopathy with Mallory-body like inclusions, and congenital fiber-type disproportion (CFTD). This protein is a selenoprotein, containing the rare amino acid selenocysteine (Sec). Sec is encoded by the UGA codon, which normally signals translation termination. The 3' UTRs of selenoprotein mRNAs contain a conserved stem-loop structure, designated the Sec insertion sequence (SECIS) element, that is necessary for the recognition of UGA as a Sec codon, rather than as a stop signal. A second stop-codon redefinition element (SRE) adjacent to the UGA codon has been identified in this gene (PMID:15791204). SRE is a phylogenetically conserved stem-loop structure that stimulates readthrough at the UGA codon, and augments the Sec insertion efficiency by SECIS. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2016]. 
  * **<color #00a2e8>UniProt Summary</color>**:  Isoform 2: Plays an important role in cell protection against oxidative stress and in the regulation of redox-related calcium homeostasis. Regulates the calcium level of the ER by protecting the calcium pump ATP2A2 against the oxidoreductase ERO1A-mediated oxidative damage. Within the ER, ERO1A activity increases the concentration of H(2)O(2), which attacks the luminal thiols in ATP2A2 and thus leads to cysteinyl sulfenic acid formation (-SOH) and SEPN1 reduces the SOH back to free thiol (- SH), thus restoring ATP2A2 activity (PubMed:25452428). Acts as a modulator of ryanodine receptor (RyR) activity: protects RyR from oxidation due to increased oxidative stress, or directly controls the RyR redox state, regulating the RyR-mediated calcium mobilization required for normal muscle development and differentiation (PubMed:19557870, PubMed:18713863). {ECO:0000269|PubMed:18713863, ECO:0000269|PubMed:19557870, ECO:0000269|PubMed:25452428}.

<button type='default' size='sm' modal='Pfam_Domains'>Pfam Domains</button>
<button type='primary' size='sm' modal='GO_terms'>GO Terms</button>


<modal id='Pfam_Domains' size='lg' title='Pfam Domains'>
No Pfam Domain information is available for this gene.
</modal>

<modal id='GO_terms' size='lg' title='GO Terms'>
|positive regulation of response to oxidative stress|
|skeletal muscle fiber development|
|regulation of ryanodine-sensitive calcium-release channel activity|
|myotube cell development|
|myotube differentiation|
|muscle fiber development|
|regulation of release of sequestered calcium ion into cytosol|
|regulation of response to oxidative stress|
|regulation of calcium ion transmembrane transporter activity|
|regulation of calcium-mediated signaling|
|regulation of calcium ion transport into cytosol|
|oxidoreductase activity|
|skeletal muscle tissue development|
|regulation of sequestering of calcium ion|
|skeletal muscle organ development|
|striated muscle cell development|
|regulation of calcium ion transmembrane transport|
|muscle cell development|
|regulation of cation channel activity|
|striated muscle cell differentiation|
|muscle cell differentiation|
|regulation of calcium ion transport|
|regulation of ion transmembrane transporter activity|
|regulation of transmembrane transporter activity|
|regulation of transporter activity|
|striated muscle tissue development|
|muscle organ development|
|muscle tissue development|
|regulation of cation transmembrane transport|
|regulation of metal ion transport|
|calcium ion homeostasis|
|muscle structure development|
|regulation of ion transmembrane transport|
|divalent inorganic cation homeostasis|
|regulation of transmembrane transport|
|metal ion homeostasis|
|regulation of ion transport|
|cation homeostasis|
|inorganic ion homeostasis|
|calcium ion binding|
|ion homeostasis|
|regulation of cellular localization|
|endoplasmic reticulum membrane|
|oxidation-reduction process|
|chemical homeostasis|
|regulation of response to stress|
|homeostatic process|
|cell development|
|tissue development|
|regulation of intracellular signal transduction|
|regulation of transport|
</modal>
\\

 === CRISPR Data ===
<button type='default' size='small' modal='Compound_Hit'>Compound Hit</button>
<button type='default' size='small' modal='Most_Correlated_Genes'>Most Correlated Genes in Chemogenomics</button>
<button type='primary' size='small' modal='Essential_Avana'>Tissues where Essential in the Avana Dataset (DepMap 20Q1)</button>

<modal id='Compound_Hit' size='lg' title='Compound Hit'>
No hits were found.
</modal>

<modal id='Most_Correlated_Genes' size='lg' title='Most Correlated Genes in Chemogenomics'>
No correlation found to any other genes in chemogenomics.
</modal>

<modal id='Essential_Avana' size='lg' title='Tissues where Essential in the Avana Dataset (DepMap 20Q1)'>
Global Fraction of Cell Lines Where Essential: 0/739
^Tissue^Fraction Of Cell Lines Where Essential^
|1290807.0|0/1|
|909776.0|0/1|
|bile duct|0/28|
|blood|0/28|
|bone|0/26|
|breast|0/33|
|central nervous system|0/56|
|cervix|0/4|
|colorectal|0/17|
|esophagus|0/13|
|fibroblast|0/1|
|gastric|0/16|
|kidney|0/21|
|liver|0/20|
|lung|0/75|
|lymphocyte|0/16|
|ovary|0/26|
|pancreas|0/24|
|peripheral nervous system|0/16|
|plasma cell|0/15|
|prostate|0/1|
|skin|0/24|
|soft tissue|0/9|
|thyroid|0/2|
|upper aerodigestive|0/22|
|urinary tract|0/29|
|uterus|0/5|
</modal>

== Essentiality in NALM6  ==
    * **<color #00a2e8>Essentiality Rank</color>**: 3935
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: 5.06 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='SEPN1 Expression in NALM6 Cells: 5.06'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>