CACNA1F [The Human Chemical-Genetic Interaction Map Project]

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======= CACNA1F =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: CACNA1F
  * **<color #00a2e8>Official Name</color>**: calcium voltage-gated channel subunit alpha1 F
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=778|778]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/O60840|O60840]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=CACNA1F&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20CACNA1F|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/300110|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**:  This gene encodes a multipass transmembrane protein that functions as an alpha-1 subunit of the voltage-dependent calcium channel, which mediates the influx of calcium ions into the cell. The encoded protein forms a complex of alpha-1, alpha-2/delta, beta, and gamma subunits in a 1:1:1:1 ratio. Mutations in this gene can cause X-linked eye disorders, including congenital stationary night blindness type 2A, cone-rod dystropy, and Aland Island eye disease. Alternatively spliced transcript variants encoding multiple isoforms have been observed. [provided by RefSeq, Aug 2013]. 
  * **<color #00a2e8>UniProt Summary</color>**:  Isoform 1: 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-1F 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). Activates at more negative voltages and does not undergo calcium-dependent inactivation (CDI), due to incoming calcium ions, during depolarization. {ECO:0000269|PubMed:27226626}. Isoform 6: Voltage-dependent L-type calcium channel activates at more hyperpolarized voltages and exibits a robust calcium-dependent inactivation (CDI), due to incoming calcium ions, during depolarizations. {ECO:0000269|PubMed:27226626}.

<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|
|detection of light stimulus involved in visual perception|
|detection of light stimulus involved in sensory perception|
|voltage-gated calcium channel complex|
|T cell homeostasis|
|regulation of T cell receptor signaling pathway|
|voltage-gated calcium channel activity|
|calcium ion import|
|detection of visible light|
|lymphocyte homeostasis|
|detection of light stimulus|
|photoreceptor outer segment|
|regulation of antigen receptor-mediated signaling pathway|
|leukocyte homeostasis|
|cardiac conduction|
|detection of external stimulus|
|detection of abiotic stimulus|
|perikaryon|
|multicellular organismal signaling|
|calcium ion transmembrane transport|
|homeostasis of number of cells|
|visual perception|
|sensory perception of light stimulus|
|regulation of heart contraction|
|calcium ion transport|
|regulation of blood circulation|
|divalent metal ion transport|
|divalent inorganic cation transport|
|response to light stimulus|
|response to radiation|
|regulation of ion transmembrane transport|
|detection of stimulus involved in sensory perception|
|inorganic cation transmembrane transport|
|regulation of transmembrane transport|
|regulation of system process|
|cation transmembrane transport|
|metal ion transport|
|inorganic ion transmembrane transport|
|detection of stimulus|
|regulation of ion transport|
|cation transport|
|ion transmembrane transport|
|sensory perception|
|regulation of immune response|
|response to abiotic stimulus|
|transmembrane transport|
|ion transport|
|nervous system process|
|homeostatic process|
|regulation of immune system process|
|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:exp487|Hinokiflavone 12μM R08 exp487]]|-2.24|
|[[:results:exp259|6-Thio-2-deoxyguanosine 2μM R06 exp259]]|-1.97|
|[[:results:exp498|Lead acetate 2000μM R08 exp498 no dilution day6]]|-1.71|
|[[:results:exp53|Suberoylanilide-Hydroxamic-Acid 0.02μM R01 exp53]]|1.97|
</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: 0/694
^Tissue^Fraction Of Cell Lines Where Essential^
|1290807.0|0/1|
|909776.0|0/1|
|bile duct|0/28|
|blood|0/26|
|bone|0/26|
|breast|0/30|
|central nervous system|0/49|
|cervix|0/4|
|colorectal|0/17|
|esophagus|0/11|
|fibroblast|0/1|
|gastric|0/14|
|kidney|0/18|
|liver|0/19|
|lung|0/72|
|lymphocyte|0/16|
|ovary|0/25|
|pancreas|0/22|
|peripheral nervous system|0/15|
|plasma cell|0/12|
|prostate|0/1|
|skin|0/20|
|soft tissue|0/9|
|thyroid|0/2|
|upper aerodigestive|0/22|
|urinary tract|0/28|
|uterus|0/5|
</modal>

== Essentiality in NALM6  ==
    * **<color #00a2e8>Essentiality Rank</color>**: 5749
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: 1.25 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='CACNA1F Expression in NALM6 Cells: 1.25'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>