CASQ1 [The Human Chemical-Genetic Interaction Map Project]

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======= CASQ1 =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: CASQ1
  * **<color #00a2e8>Official Name</color>**: calsequestrin 1
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=844|844]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/P31415|P31415]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=CASQ1&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20CASQ1|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/114250|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**:  This gene encodes the skeletal muscle specific member of the calsequestrin protein family. Calsequestrin functions as a luminal sarcoplasmic reticulum calcium sensor in both cardiac and skeletal muscle cells. This protein, also known as calmitine, functions as a calcium regulator in the mitochondria of skeletal muscle. This protein is absent in patients with Duchenne and Becker types of muscular dystrophy. [provided by RefSeq, Jun 2013]. 
  * **<color #00a2e8>UniProt Summary</color>**:  Calsequestrin is a high-capacity, moderate affinity, calcium-binding protein and thus acts as an internal calcium store in muscle (PubMed:28895244). Calcium ions are bound by clusters of acidic residues at the protein surface, often at the interface between subunits. Can bind around 80 Ca(2+) ions (PubMed:28895244). Regulates the release of lumenal Ca(2+) via the calcium release channel RYR1; this plays an important role in triggering muscle contraction. Negatively regulates store-operated Ca(2+) entry (SOCE) activity (PubMed:27185316). {ECO:0000269|PubMed:22337878, ECO:0000269|PubMed:27185316, ECO:0000269|PubMed:28895244, ECO:0000303|PubMed:22337878}.

<button type='primary' 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'>
|Calsequestrin|
</modal>

<modal id='GO_terms' size='lg' title='GO Terms'>
|terminal cisterna lumen|
|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion|
|regulation of skeletal muscle contraction by calcium ion signaling|
|positive regulation of store-operated calcium channel activity|
|sarcoplasmic reticulum lumen|
|regulation of store-operated calcium channel activity|
|response to denervation involved in regulation of muscle adaptation|
|response to muscle inactivity involved in regulation of muscle adaptation|
|response to muscle inactivity|
|regulation of skeletal muscle contraction|
|regulation of store-operated calcium entry|
|response to inactivity|
|response to stimulus involved in regulation of muscle adaptation|
|smooth endoplasmic reticulum|
|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|
|sarcoplasmic reticulum membrane|
|positive regulation of calcium ion transmembrane transporter activity|
|positive regulation of release of sequestered calcium ion into cytosol|
|T-tubule|
|sarcoplasmic reticulum|
|sarcomere organization|
|positive regulation of calcium ion transport into cytosol|
|endoplasmic reticulum organization|
|myofibril assembly|
|regulation of cardiac conduction|
|positive regulation of cation channel activity|
|positive regulation of calcium ion transmembrane transport|
|regulation of release of sequestered calcium ion into cytosol|
|regulation of muscle adaptation|
|protein polymerization|
|regulation of calcium ion transmembrane transporter activity|
|regulation of striated muscle contraction|
|regulation of calcium ion transport into cytosol|
|cellular component assembly involved in morphogenesis|
|positive regulation of ion transmembrane transporter activity|
|response to heat|
|positive regulation of transporter activity|
|actomyosin structure organization|
|positive regulation of calcium ion transport|
|skeletal muscle tissue development|
|regulation of sequestering of calcium ion|
|Z disc|
|skeletal muscle organ development|
|striated muscle cell development|
|positive regulation of cation transmembrane transport|
|calcium-mediated signaling|
|regulation of calcium ion transmembrane transport|
|muscle cell development|
|positive regulation of ion transmembrane transport|
|regulation of muscle contraction|
|regulation of cation channel activity|
|response to temperature stimulus|
|striated muscle cell differentiation|
|positive regulation of transmembrane transport|
|regulation of muscle system process|
|regulation of heart contraction|
|muscle cell differentiation|
|regulation of calcium ion transport|
|regulation of ion transmembrane transporter activity|
|regulation of transmembrane transporter activity|
|positive regulation of ion transport|
|regulation of transporter activity|
|positive regulation of cytosolic calcium ion concentration|
|striated muscle tissue development|
|regulation of blood circulation|
|muscle organ development|
|muscle tissue development|
|regulation of cytosolic calcium ion concentration|
|regulation of cation transmembrane transport|
|second-messenger-mediated signaling|
|mitochondrial matrix|
|regulation of metal ion transport|
|endomembrane system organization|
|cellular calcium ion homeostasis|
|calcium ion homeostasis|
|supramolecular fiber organization|
|cellular divalent inorganic cation homeostasis|
|muscle structure development|
|regulation of ion transmembrane transport|
|divalent inorganic cation homeostasis|
|actin cytoskeleton organization|
|cellular metal ion homeostasis|
|regulation of transmembrane transport|
|actin filament-based process|
|regulation of system process|
|metal ion homeostasis|
|cellular cation homeostasis|
|cellular ion homeostasis|
|regulation of ion transport|
|cation homeostasis|
|inorganic ion homeostasis|
|calcium ion binding|
|cellular chemical homeostasis|
|organelle assembly|
|ion homeostasis|
|cellular component morphogenesis|
|cellular protein-containing complex assembly|
|anatomical structure formation involved in morphogenesis|
|cellular homeostasis|
|regulation of cellular localization|
|ion transmembrane transport|
|Golgi apparatus|
|positive regulation of transport|
|endoplasmic reticulum|
|identical protein binding|
|cytoskeleton organization|
|chemical homeostasis|
|response to abiotic stimulus|
|mitochondrion|
|transmembrane transport|
|ion transport|
|protein-containing complex assembly|
|homeostatic process|
|cell development|
|intracellular signal transduction|
|tissue development|
|positive regulation of molecular function|
|protein-containing complex subunit organization|
|regulation of transport|
</modal>
\\

 === CRISPR Data ===
<button type='primary' 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'>
^Screen^Score^
|[[:results:exp290|LLY-283 2.6μM R06 exp290]]|1.74|
</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>**: 10678
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: -0.29 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='CASQ1 Expression in NALM6 Cells: -0.29'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>