CACNA1S [The Human Chemical-Genetic Interaction Map Project]

This page is read only. You can view the source, but not change it. Ask your administrator if you think this is wrong.
======= CACNA1S =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: CACNA1S
  * **<color #00a2e8>Official Name</color>**: calcium voltage-gated channel subunit alpha1 S
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=779|779]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/Q13698|Q13698]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=CACNA1S&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20CACNA1S|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/114208|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**:  This gene encodes one of the five subunits of the slowly inactivating L-type voltage-dependent calcium channel in skeletal muscle cells. Mutations in this gene have been associated with hypokalemic periodic paralysis, thyrotoxic periodic paralysis and malignant hyperthermia susceptibility. [provided by RefSeq, Jul 2008]. 
  * **<color #00a2e8>UniProt Summary</color>**:  Pore-forming, alpha-1S subunit of the voltage-gated calcium channel that gives rise to L-type calcium currents in skeletal muscle. Calcium channels containing the alpha-1S subunit play an important role in excitation-contraction coupling in skeletal muscle via their interaction with RYR1, which triggers Ca(2+) release from the sarcplasmic reticulum and ultimately results in muscle contraction. Long-lasting (L-type) calcium channels belong to the 'high-voltage activated' (HVA) group. {ECO:0000250|UniProtKB:P07293}.

<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'>
|Ion trans|
|Ca chan IQ|
|PKD channel|
</modal>

<modal id='GO_terms' size='lg' title='GO Terms'>
|high voltage-gated calcium channel activity|
|cellular response to caffeine|
|L-type voltage-gated calcium channel complex|
|cellular response to purine-containing compound|
|response to caffeine|
|response to diuretic|
|I band|
|voltage-gated calcium channel complex|
|cellular response to alkaloid|
|voltage-gated calcium channel activity|
|T-tubule|
|calcium ion import|
|cardiac conduction|
|response to alkaloid|
|multicellular organismal signaling|
|response to purine-containing compound|
|cellular response to xenobiotic stimulus|
|calcium ion transmembrane transport|
|calmodulin binding|
|regulation of heart contraction|
|calcium ion transport|
|muscle contraction|
|regulation of blood circulation|
|divalent metal ion transport|
|muscle system process|
|response to xenobiotic stimulus|
|divalent inorganic cation transport|
|cellular response to drug|
|regulation of ion transmembrane transport|
|cellular response to organic cyclic compound|
|inorganic cation transmembrane transport|
|regulation of transmembrane transport|
|regulation of system process|
|cellular response to organonitrogen compound|
|cation transmembrane transport|
|metal ion transport|
|inorganic ion transmembrane transport|
|cellular response to nitrogen compound|
|regulation of ion transport|
|cation transport|
|response to organic cyclic compound|
|ion transmembrane transport|
|response to organonitrogen compound|
|response to drug|
|response to nitrogen compound|
|cellular response to endogenous stimulus|
|transmembrane transport|
|ion transport|
|response to endogenous stimulus|
|regulation of transport|
|system process|
</modal>
\\

 === CRISPR Data ===
<button type='primary' size='small' modal='Compound_Hit'>Compound Hit</button>
<button type='primary' 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:exp26|Oligomycin-A 20μM R00 exp26]]|-1.95|
|[[:results:exp492|iCRT14 30μM R08 exp492]]|-1.74|
|[[:results:exp301|VER-155008 3.9μM R06 exp301]]|-1.73|
|[[:results:exp1|5-Fluorouracil 2μM R00 exp1]]|1.72|
|[[:results:exp156|UNC2400 2μM R03 exp156]]|1.75|
|[[:results:exp235|Geldanamycin 0.01μM R05 exp235]]|1.8|
|[[:results:exp222|Betulinic acid 10 to 15μM on day4 R05 exp222]]|1.98|
|[[:results:exp530|Thioridazine 5μM R08 exp530]]|2.01|
|[[:results:exp238|Parthenolide 2.5μM R05 exp238]]|2.11|
|[[:results:exp247|UM0130462 0.025 to 0.035μM day4 R05 exp247]]|2.37|
</modal>

<modal id='Most_Correlated_Genes' size='lg' title='Most Correlated Genes in Chemogenomics'>
^Gene^Correlation^
|[[:human genes:r:rrm1|RRM1]]|0.487|
</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>**: 2055
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: -5.6 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='CACNA1S Expression in NALM6 Cells: -5.6'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>