======= CACNA1H =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: CACNA1H
  * **<color #00a2e8>Official Name</color>**: calcium voltage-gated channel subunit alpha1 H
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=8912|8912]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/O95180|O95180]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=CACNA1H&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20CACNA1H|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/607904|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**:  This gene encodes a T-type member of the alpha-1 subunit family, a protein in the voltage-dependent calcium channel complex. Calcium channels mediate the influx of calcium ions into the cell upon membrane polarization and consist of a complex of alpha-1, alpha-2/delta, beta, and gamma subunits in a 1:1:1:1 ratio. The alpha-1 subunit has 24 transmembrane segments and forms the pore through which ions pass into the cell. There are multiple isoforms of each of the proteins in the complex, either encoded by different genes or the result of alternative splicing of transcripts. Alternate transcriptional splice variants, encoding different isoforms, have been characterized for the gene described here. Studies suggest certain mutations in this gene lead to childhood absence epilepsy (CAE). [provided by RefSeq, Jul 2008]. 
  * **<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|
</modal>

<modal id='GO_terms' size='lg' title='GO Terms'>
|aldosterone biosynthetic process|
|cortisol biosynthetic process|
|tertiary alcohol biosynthetic process|
|aldosterone metabolic process|
|low voltage-gated calcium channel activity|
|cortisol metabolic process|
|primary alcohol biosynthetic process|
|mineralocorticoid biosynthetic process|
|mineralocorticoid metabolic process|
|aldehyde biosynthetic process|
|cellular response to potassium ion|
|glucocorticoid biosynthetic process|
|positive regulation of acrosome reaction|
|tertiary alcohol metabolic process|
|positive regulation of fertilization|
|response to potassium ion|
|C21-steroid hormone biosynthetic process|
|glucocorticoid metabolic process|
|positive regulation of calcium ion-dependent exocytosis|
|regulation of acrosome reaction|
|myoblast fusion|
|voltage-gated calcium channel complex|
|C21-steroid hormone metabolic process|
|regulation of fertilization|
|ketone biosynthetic process|
|neuronal action potential|
|membrane depolarization during action potential|
|syncytium formation by plasma membrane fusion|
|cell-cell fusion|
|syncytium formation|
|regulation of calcium ion-dependent exocytosis|
|calcium ion import|
|voltage-gated ion channel activity|
|steroid hormone biosynthetic process|
|membrane depolarization|
|positive regulation of regulated secretory pathway|
|cellular aldehyde metabolic process|
|transmission of nerve impulse|
|myotube differentiation|
|scaffold protein binding|
|hormone biosynthetic process|
|cellular ketone metabolic process|
|primary alcohol metabolic process|
|positive regulation of reproductive process|
|positive regulation of exocytosis|
|action potential|
|alcohol biosynthetic process|
|cellular hormone metabolic process|
|steroid biosynthetic process|
|multicellular organismal signaling|
|regulation of reproductive process|
|regulation of regulated secretory pathway|
|organic hydroxy compound biosynthetic process|
|cellular response to metal ion|
|calcium ion transmembrane transport|
|striated muscle cell differentiation|
|hormone metabolic process|
|cellular response to inorganic substance|
|regulation of exocytosis|
|regulation of heart contraction|
|muscle cell differentiation|
|calcium ion transport|
|muscle contraction|
|steroid metabolic process|
|regulation of blood circulation|
|muscle organ development|
|divalent metal ion transport|
|muscle system process|
|divalent inorganic cation transport|
|alcohol metabolic process|
|response to metal ion|
|positive regulation of secretion by cell|
|regulation of membrane potential|
|positive regulation of secretion|
|organic hydroxy compound metabolic process|
|muscle structure development|
|regulation of ion transmembrane transport|
|drug metabolic process|
|positive regulation of multi-organism process|
|regulation of hormone levels|
|response to inorganic substance|
|regulation of vesicle-mediated transport|
|inorganic cation transmembrane transport|
|regulation of transmembrane transport|
|lipid biosynthetic process|
|small molecule biosynthetic process|
|regulation of system process|
|cellular response to hormone stimulus|
|cation transmembrane transport|
|metal ion transport|
|inorganic ion transmembrane transport|
|regulation of ion transport|
|regulation of secretion by cell|
|regulation of multi-organism process|
|regulation of secretion|
|cation transport|
|anatomical structure formation involved in morphogenesis|
|response to hormone|
|ion transmembrane transport|
|positive regulation of transport|
|lipid metabolic process|
|cellular response to endogenous stimulus|
|transmembrane transport|
|organic cyclic compound biosynthetic process|
|ion transport|
|nervous system process|
|integral component of plasma membrane|
|response to endogenous stimulus|
|small molecule metabolic process|
|regulation of transport|
|system process|
</modal>
\\

 === CRISPR Data ===
<button type='default' 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'>
No hits were found.
</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>**: 11601
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: -1.43 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='CACNA1H Expression in NALM6 Cells: -1.43'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>