CACNA1A [The Human Chemical-Genetic Interaction Map Project]

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======= CACNA1A =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: CACNA1A
  * **<color #00a2e8>Official Name</color>**: calcium voltage-gated channel subunit alpha1 A
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=773|773]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/O00555|O00555]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=CACNA1A&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20CACNA1A|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/601011|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**:  Voltage-dependent calcium channels mediate the entry of calcium ions into excitable cells, and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, and gene expression. Calcium channels are multisubunit complexes composed of alpha-1, beta, alpha-2/delta, and gamma subunits. The channel activity is directed by the pore-forming alpha-1 subunit, whereas, the others act as auxiliary subunits regulating this activity. The distinctive properties of the calcium channel types are related primarily to the expression of a variety of alpha-1 isoforms, alpha-1A, B, C, D, E, and S. This gene encodes the alpha-1A subunit, which is predominantly expressed in neuronal tissue. Mutations in this gene are associated with 2 neurologic disorders, familial hemiplegic migraine and episodic ataxia 2. This gene also exhibits polymorphic variation due to (CAG)n-repeats. Multiple transcript variants encoding different isoforms have been found for this gene. In one set of transcript variants, the (CAG)n-repeats occur in the 3' UTR, and are not associated with any disease. But in another set of variants, an insertion extends the coding region to include the (CAG)n-repeats which encode a polyglutamine tract. Expansion of the (CAG)n-repeats from the normal 4-18 to 21-33 in the coding region is associated with spinocerebellar ataxia 6. [provided by RefSeq, Jul 2016]. 
  * **<color #00a2e8>UniProt Summary</color>**: N/A

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

<modal id='GO_terms' size='lg' title='GO Terms'>
|high voltage-gated calcium channel activity|
|voltage-gated calcium channel complex|
|cellular response to amyloid-beta|
|voltage-gated calcium channel activity|
|calcium ion import|
|response to amyloid-beta|
|membrane depolarization|
|syntaxin binding|
|amyloid-beta binding|
|cell projection|
|regulation of insulin secretion|
|calcium ion transmembrane transport|
|regulation of peptide hormone secretion|
|calcium ion transport|
|regulation of hormone secretion|
|positive regulation of cytosolic calcium ion concentration|
|divalent metal ion transport|
|divalent inorganic cation transport|
|cellular response to peptide|
|regulation of cytosolic calcium ion concentration|
|neuronal cell body|
|anterograde trans-synaptic signaling|
|chemical synaptic transmission|
|regulation of membrane potential|
|cellular calcium ion homeostasis|
|trans-synaptic signaling|
|modulation of chemical synaptic transmission|
|regulation of trans-synaptic signaling|
|calcium ion homeostasis|
|synaptic signaling|
|regulation of protein secretion|
|cellular divalent inorganic cation homeostasis|
|response to peptide|
|regulation of ion transmembrane transport|
|divalent inorganic cation homeostasis|
|regulation of peptide secretion|
|regulation of hormone levels|
|cellular metal ion homeostasis|
|inorganic cation transmembrane transport|
|regulation of transmembrane transport|
|cellular response to organonitrogen compound|
|cation transmembrane transport|
|metal ion homeostasis|
|cellular cation homeostasis|
|metal ion transport|
|cellular ion homeostasis|
|inorganic ion transmembrane transport|
|cellular response to nitrogen compound|
|regulation of ion transport|
|cation homeostasis|
|regulation of protein transport|
|inorganic ion homeostasis|
|regulation of peptide transport|
|cellular chemical homeostasis|
|regulation of establishment of protein localization|
|regulation of secretion by cell|
|ion homeostasis|
|regulation of secretion|
|cation transport|
|cellular homeostasis|
|ion transmembrane transport|
|response to organonitrogen compound|
|regulation of protein localization|
|cellular response to oxygen-containing compound|
|response to nitrogen compound|
|cell death|
|chemical homeostasis|
|cell-cell signaling|
|cellular response to endogenous stimulus|
|transmembrane transport|
|ion transport|
|response to endogenous stimulus|
|response to oxygen-containing compound|
|homeostatic process|
|regulation of transport|
</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:exp487|Hinokiflavone 12μM R08 exp487]]|-1.76|
|[[:results:exp2|5-Fluorouracil 20μM R00 exp2]]|-1.72|
|[[:results:exp513|ONC212 0.15μM R08 exp513]]|-1.72|
|[[:results:exp49|NFN1 0.1μM R01 exp49]]|1.83|
|[[:results:exp393|Resminostat 0.5μM R07 exp393]]|1.87|
|[[:results:exp51|Nifuroxazide 1μM R01 exp51]]|2.1|
|[[:results:exp176|Apcin 50 to 100μM on day4 R04 exp176]]|2.48|
</modal>

<modal id='Most_Correlated_Genes' size='lg' title='Most Correlated Genes in Chemogenomics'>
^Gene^Correlation^
|[[:human genes:h:hgc6.3|HGC6.3]]|0.504|
|[[:human genes:r:rpl30|RPL30]]|0.498|
|[[:human genes:p:polr2j3|POLR2J3]]|0.474|
|[[:human genes:t:tbc1d3g|TBC1D3G]]|0.473|
|[[:human genes:t:tbc1d3h|TBC1D3H]]|0.47|
|[[:human genes:p:psmb4|PSMB4]]|0.456|
|[[:human genes:o:osbp|OSBP]]|0.455|
|[[:human genes:t:tbc1d3l|TBC1D3L]]|0.448|
|[[:human genes:t:tbc1d3e|TBC1D3E]]|0.448|
|[[:human genes:t:tbc1d3k|TBC1D3K]]|0.448|
|[[:human genes:t:tbc1d3i|TBC1D3I]]|0.448|
|[[:human genes:t:tceb3c|TCEB3C]]|0.446|
|[[:human genes:t:tbc1d3f|TBC1D3F]]|0.445|
|[[:human genes:t:tfip11|TFIP11]]|0.444|
|[[:human genes:p:psmd3|PSMD3]]|0.442|
|[[:human genes:p:psmd11|PSMD11]]|0.439|
|[[:human genes:t:tceb3cl2|TCEB3CL2]]|0.437|
|[[:human genes:c:chd4|CHD4]]|0.434|
|[[:human genes:s:ssh2|SSH2]]|0.432|
|[[:human genes:t:tbc1d3c|TBC1D3C]]|0.431|
|[[:human genes:t:tbc1d3|TBC1D3]]|0.43|
|[[:human genes:n:npipb5|NPIPB5]]|0.425|
|[[:human genes:c:c1qtnf9b|C1QTNF9B]]|0.424|
|[[:human genes:p:psmc4|PSMC4]]|0.423|
|[[:human genes:c:cln6|CLN6]]|0.422|
|[[:human genes:t:tonsl|TONSL]]|0.421|
|[[:human genes:g:golga6l3|GOLGA6L3]]|0.42|
|[[:human genes:t:tpx2|TPX2]]|0.419|
|[[:human genes:p:pole|POLE]]|0.418|
|[[:human genes:p:pola1|POLA1]]|0.418|
|[[:human genes:c:c14orf93|C14orf93]]|0.416|
|[[:human genes:s:sh3bp1|SH3BP1]]|0.415|
|[[:human genes:s:supt6h|SUPT6H]]|0.413|
|[[:human genes:k:kiaa0947|KIAA0947]]|0.413|
|[[:human genes:p:psma6|PSMA6]]|0.412|
|[[:human genes:c:cgb2|CGB2]]|0.412|
|[[:human genes:p:pola2|POLA2]]|0.412|
|[[:human genes:c:cdca3|CDCA3]]|0.411|
|[[:human genes:c:cdh24|CDH24]]|0.411|
|[[:human genes:t:tsg101|TSG101]]|0.41|
|[[:human genes:r:rps2|RPS2]]|0.41|
|[[:human genes:f:fam160a1|FAM160A1]]|0.41|
|[[:human genes:e:ebna1bp2|EBNA1BP2]]|0.409|
|[[:human genes:t:tceb3cl|TCEB3CL]]|0.408|
|[[:human genes:m:myo1h|MYO1H]]|0.407|
|[[:human genes:g:golga6l4|GOLGA6L4]]|0.407|
|[[:human genes:e:exosc5|EXOSC5]]|0.406|
|[[:human genes:m:mt1e|MT1E]]|0.404|
|[[:human genes:s:snrnp70|SNRNP70]]|0.404|
|[[:human genes:v:vasn|VASN]]|0.404|
|[[:human genes:r:rpl35|RPL35]]|0.404|
|[[:human genes:g:gosr2|GOSR2]]|0.403|
|[[:human genes:z:zfand5|ZFAND5]]|0.402|
|[[:human genes:r:rpl6|RPL6]]|0.402|
|[[:human genes:m:myt1l|MYT1L]]|0.401|
|[[:human genes:s:sf3a3|SF3A3]]|0.4|
</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>**: 2167
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: 1.16 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='CACNA1A Expression in NALM6 Cells: 1.16'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>