RYR1 [The Human Chemical-Genetic Interaction Map Project]

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======= RYR1 =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: RYR1
  * **<color #00a2e8>Official Name</color>**: ryanodine receptor 1
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=6261|6261]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/P21817|P21817]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=RYR1&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20RYR1|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/180901|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**:  This gene encodes a ryanodine receptor found in skeletal muscle. The encoded protein functions as a calcium release channel in the sarcoplasmic reticulum but also serves to connect the sarcoplasmic reticulum and transverse tubule. Mutations in this gene are associated with malignant hyperthermia susceptibility, central core disease, and minicore myopathy with external ophthalmoplegia. Alternatively spliced transcripts encoding different isoforms have been described. [provided by RefSeq, Jul 2008]. 
  * **<color #00a2e8>UniProt Summary</color>**:  Calcium channel that mediates the release of Ca(2+) from the sarcoplasmic reticulum into the cytoplasm and thereby plays a key role in triggering muscle contraction following depolarization of T-tubules (PubMed:11741831, PubMed:16163667). Repeated very high-level exercise increases the open probability of the channel and leads to Ca(2+) leaking into the cytoplasm (PubMed:18268335). Can also mediate the release of Ca(2+) from intracellular stores in neurons, and may thereby promote prolonged Ca(2+) signaling in the brain. Required for normal embryonic development of muscle fibers and skeletal muscle. Required for normal heart morphogenesis, skin development and ossification during embryogenesis (By similarity). {ECO:0000250|UniProtKB:E9PZQ0, ECO:0000269|PubMed:18268335, ECO:0000305|PubMed:11741831, ECO:0000305|PubMed:16163667}.

<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'>
|SPRY|
|RR TM4-6|
|Ins145 P3 rec|
|RYDR ITPR|
|Ion trans|
|RyR|
|RIH assoc|
|MIR|
</modal>

<modal id='GO_terms' size='lg' title='GO Terms'>
|ryanodine receptor complex|
|terminal cisterna|
|calcium-induced calcium release activity|
|ryanodine-sensitive calcium-release channel activity|
|junctional membrane complex|
|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|
|junctional sarcoplasmic reticulum membrane|
|release of sequestered calcium ion into cytosol by endoplasmic reticulum|
|integral component of organelle membrane|
|cellular response to caffeine|
|cellular response to purine-containing compound|
|calcium-release channel activity|
|sarcoplasmic reticulum calcium ion transport|
|ossification involved in bone maturation|
|bone maturation|
|response to diuretic|
|response to caffeine|
|I band|
|animal organ maturation|
|skeletal muscle fiber development|
|calcium channel complex|
|smooth endoplasmic reticulum|
|myotube cell development|
|sarcoplasmic reticulum membrane|
|cellular response to alkaloid|
|voltage-gated calcium channel activity|
|T-tubule|
|sarcoplasmic reticulum|
|calcium channel activity|
|release of sequestered calcium ion into cytosol|
|negative regulation of sequestering of calcium ion|
|myotube differentiation|
|muscle fiber development|
|calcium ion transmembrane import into cytosol|
|regulation of cardiac conduction|
|outflow tract morphogenesis|
|calcium ion transport into cytosol|
|cellular response to calcium ion|
|cytosolic calcium ion transport|
|protein homotetramerization|
|sarcolemma|
|protease binding|
|response to alkaloid|
|skeletal muscle tissue development|
|regulation of sequestering of calcium ion|
|Z disc|
|skeletal muscle organ development|
|anatomical structure maturation|
|striated muscle cell development|
|cell cortex|
|cytoplasmic vesicle membrane|
|muscle cell development|
|protein tetramerization|
|response to calcium ion|
|response to purine-containing compound|
|cellular response to xenobiotic stimulus|
|cellular response to metal ion|
|calcium ion transmembrane transport|
|bone development|
|striated muscle cell differentiation|
|calmodulin binding|
|cellular response to inorganic substance|
|developmental maturation|
|regulation of heart contraction|
|muscle cell differentiation|
|calcium ion transport|
|heart morphogenesis|
|muscle contraction|
|ossification|
|positive regulation of cytosolic calcium ion concentration|
|striated muscle tissue development|
|regulation of blood circulation|
|muscle organ development|
|divalent metal ion transport|
|muscle tissue development|
|muscle system process|
|response to xenobiotic stimulus|
|divalent inorganic cation transport|
|regulation of cytosolic calcium ion concentration|
|protein homooligomerization|
|response to hypoxia|
|response to decreased oxygen levels|
|response to metal ion|
|response to oxygen levels|
|skin development|
|cellular response to drug|
|cellular calcium ion homeostasis|
|calcium ion homeostasis|
|cellular divalent inorganic cation homeostasis|
|muscle structure development|
|divalent inorganic cation homeostasis|
|skeletal system development|
|protein complex oligomerization|
|heart development|
|response to inorganic substance|
|cellular response to organic cyclic compound|
|cellular metal ion homeostasis|
|inorganic cation transmembrane transport|
|regulation of system process|
|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|
|cation homeostasis|
|inorganic ion homeostasis|
|calcium ion binding|
|cellular chemical homeostasis|
|ion homeostasis|
|cation transport|
|circulatory system development|
|cellular homeostasis|
|response to organic cyclic compound|
|ion transmembrane transport|
|animal organ morphogenesis|
|response to organonitrogen compound|
|response to drug|
|response to nitrogen compound|
|chemical homeostasis|
|response to abiotic stimulus|
|cellular response to endogenous stimulus|
|transmembrane transport|
|ion transport|
|integral component of plasma membrane|
|response to endogenous stimulus|
|ATP binding|
|protein-containing complex assembly|
|homeostatic process|
|cell development|
|tissue development|
|establishment of localization in cell|
|protein-containing complex subunit organization|
|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:exp419|Tunicamycin 0.04 to 0.075μM  on day4 R07 exp419]]|-1.86|
|[[:results:exp501|Methotrexate 0.01μM R08 exp501]]|-1.84|
|[[:results:exp420|Tunicamycin 0.04 to 0.125μM  on day4 R07 exp420]]|-1.73|
</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>**: 4219
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: -2.74 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='RYR1 Expression in NALM6 Cells: -2.74'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>