CACNA1D [The Human Chemical-Genetic Interaction Map Project]

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======= CACNA1D =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: CACNA1D
  * **<color #00a2e8>Official Name</color>**: calcium voltage-gated channel subunit alpha1 D
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=776|776]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/Q01668|Q01668]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=CACNA1D&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20CACNA1D|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/114206|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, namely alpha-1A, B, C, D, E, and S. This gene encodes the alpha-1D subunit. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2012]. 
  * **<color #00a2e8>UniProt Summary</color>**:  Voltage-sensitive calcium channels (VSCC) 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, gene expression, cell motility, cell division and cell death. The isoform alpha-1D gives rise to L-type calcium currents. Long-lasting (L-type) calcium channels belong to the 'high-voltage activated' (HVA) group. They are blocked by dihydropyridines (DHP), phenylalkylamines, benzothiazepines, and by omega-agatoxin-IIIA (omega-Aga-IIIA). They are however insensitive to omega-conotoxin- GVIA (omega-CTx-GVIA) and omega-agatoxin-IVA (omega-Aga-IVA). {ECO:0000269|PubMed:18482979, ECO:0000269|PubMed:25620733, ECO:0000269|PubMed:28472301}.

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

<modal id='GO_terms' size='lg' title='GO Terms'>
|cochlear hair cell ribbon synapse|
|voltage-gated calcium channel activity involved SA node cell action potential|
|voltage-gated calcium channel activity involved in positive regulation of presynaptic cytosolic calcium levels|
|voltage-gated calcium channel activity involved in cardiac muscle cell action potential|
|induction of synaptic vesicle exocytosis by positive regulation of presynaptic cytosolic calcium ion concentration|
|positive regulation of presynaptic cytosolic calcium concentration|
|membrane depolarization during SA node cell action potential|
|regulation of atrial cardiac muscle cell membrane repolarization|
|SA node cell to atrial cardiac muscle cell signaling|
|SA node cell action potential|
|positive regulation of adenylate cyclase activity|
|positive regulation of synaptic vesicle exocytosis|
|SA node cell to atrial cardiac muscle cell communication|
|high voltage-gated calcium channel activity|
|L-type voltage-gated calcium channel complex|
|presynaptic modulation of chemical synaptic transmission|
|integral component of presynaptic active zone membrane|
|membrane depolarization during cardiac muscle cell action potential|
|regulation of presynaptic cytosolic calcium ion concentration|
|alpha-actinin binding|
|ankyrin binding|
|positive regulation of neurotransmitter secretion|
|positive regulation of cyclase activity|
|positive regulation of lyase activity|
|regulation of cardiac muscle cell membrane repolarization|
|cell-cell signaling involved in cardiac conduction|
|voltage-gated calcium channel complex|
|regulation of adenylate cyclase activity|
|membrane depolarization during action potential|
|regulation of membrane repolarization|
|neuron cellular homeostasis|
|regulation of heart rate by cardiac conduction|
|positive regulation of neurotransmitter transport|
|cardiac muscle cell action potential involved in contraction|
|voltage-gated calcium channel activity|
|cardiac muscle cell contraction|
|calcium ion import|
|regulation of cyclase activity|
|cell communication involved in cardiac conduction|
|regulation of lyase activity|
|cardiac muscle cell action potential|
|membrane depolarization|
|positive regulation of regulated secretory pathway|
|calcium channel activity|
|regulation of potassium ion transmembrane transporter activity|
|cardiac muscle contraction|
|regulation of synaptic vesicle exocytosis|
|regulation of potassium ion transmembrane transport|
|heart contraction|
|positive regulation of exocytosis|
|actin-mediated cell contraction|
|cardiac conduction|
|action potential|
|regulation of potassium ion transport|
|regulation of heart rate|
|heart process|
|regulation of neurotransmitter secretion|
|striated muscle contraction|
|actin filament-based movement|
|regulation of synaptic vesicle cycle|
|positive regulation of calcium ion transport|
|Z disc|
|multicellular organismal signaling|
|regulation of neurotransmitter transport|
|sensory perception of sound|
|positive regulation of synaptic transmission|
|regulation of regulated secretory pathway|
|sensory perception of mechanical stimulus|
|regulation of insulin secretion|
|calcium ion transmembrane transport|
|adenylate cyclase-modulating G protein-coupled receptor signaling pathway|
|regulation of peptide hormone secretion|
|regulation of exocytosis|
|regulation of heart contraction|
|G protein-coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger|
|regulation of calcium ion transport|
|calcium ion transport|
|muscle contraction|
|regulation of ion transmembrane transporter activity|
|regulation of transmembrane transporter activity|
|regulation of hormone secretion|
|positive regulation of ion transport|
|regulation of transporter activity|
|positive regulation of cytosolic calcium ion concentration|
|regulation of blood circulation|
|divalent metal ion transport|
|muscle system process|
|divalent inorganic cation transport|
|regulation of cytosolic calcium ion concentration|
|regulation of cation transmembrane transport|
|anatomical structure homeostasis|
|regulation of neurotransmitter levels|
|regulation of metal ion transport|
|blood circulation|
|circulatory system process|
|positive regulation of secretion by cell|
|anterograde trans-synaptic signaling|
|chemical synaptic transmission|
|regulation of membrane potential|
|positive regulation of secretion|
|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|
|regulation of ion transmembrane transport|
|divalent inorganic cation homeostasis|
|regulation of peptide secretion|
|regulation of hormone levels|
|regulation of vesicle-mediated transport|
|cellular metal ion homeostasis|
|inorganic cation transmembrane transport|
|regulation of transmembrane transport|
|actin filament-based process|
|regulation of system process|
|cation transmembrane transport|
|metal ion homeostasis|
|cellular cation homeostasis|
|metal ion transport|
|cellular ion homeostasis|
|inorganic ion transmembrane transport|
|regulation of ion transport|
|regulation of protein transport|
|cation homeostasis|
|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|
|regulation of cellular localization|
|ion transmembrane transport|
|sensory perception|
|positive regulation of transport|
|regulation of protein localization|
|chemical homeostasis|
|cell-cell signaling|
|transmembrane transport|
|G protein-coupled receptor signaling pathway|
|ion transport|
|nervous system process|
|positive regulation of catalytic activity|
|movement of cell or subcellular component|
|homeostatic process|
|positive regulation of molecular function|
|positive regulation of cell communication|
|positive regulation of signaling|
|regulation of transport|
|system process|
</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:exp532|TIC10 10μM R08 exp532]]|-2.26|
|[[:results:exp155|UNC1999 2μM R03 exp155]]|-1.93|
|[[:results:exp102|Nifuroxazide 5μM R03 exp102]]|-1.71|
|[[:results:exp529|Thimerosal 0.85μM R08 exp529]]|1.7|
|[[:results:exp314|Dimethyloxaloylglycine 11μM R07 exp314]]|1.78|
|[[:results:exp50|Nicotinamide 2000μM R01 exp50]]|1.83|
</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>**: 12530
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: 1.94 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='CACNA1D Expression in NALM6 Cells: 1.94'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>