ITPR1 [The Human Chemical-Genetic Interaction Map Project]

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======= ITPR1 =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: ITPR1
  * **<color #00a2e8>Official Name</color>**: inositol 1,4,5-trisphosphate receptor type 1
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=3708|3708]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/Q14643|Q14643]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=ITPR1&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20ITPR1|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/147265|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**:  This gene encodes an intracellular receptor for inositol 1,4,5-trisphosphate. Upon stimulation by inositol 1,4,5-trisphosphate, this receptor mediates calcium release from the endoplasmic reticulum. Mutations in this gene cause spinocerebellar ataxia type 15, a disease associated with an heterogeneous group of cerebellar disorders. Multiple transcript variants have been identified for this gene. [provided by RefSeq, Nov 2009]. 
  * **<color #00a2e8>UniProt Summary</color>**:  Intracellular channel that mediates calcium release from the endoplasmic reticulum following stimulation by inositol 1,4,5- trisphosphate (PubMed:27108797). Involved in the regulation of epithelial secretion of electrolytes and fluid through the interaction with AHCYL1 (By similarity). Plays a role in ER stress-induced apoptosis. Cytoplasmic calcium released from the ER triggers apoptosis by the activation of CaM kinase II, eventually leading to the activation of downstream apoptosis pathways (By similarity). {ECO:0000250|UniProtKB:P11881, ECO:0000269|PubMed:27108797}.

<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'>
|Ins145 P3 rec|
|Ion trans|
|MIR|
|RYDR ITPR|
|RIH assoc|
</modal>

<modal id='GO_terms' size='lg' title='GO Terms'>
|inositol 1,4,5-trisphosphate receptor activity involved in regulation of postsynaptic cytosolic calcium levels|
|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|
|platelet dense tubular network|
|calcium ion transmembrane transporter activity|
|calcineurin complex|
|platelet dense granule membrane|
|voluntary musculoskeletal movement|
|epithelial fluid transport|
|platelet dense tubular network membrane|
|regulation of postsynaptic cytosolic calcium ion concentration|
|calcium channel inhibitor activity|
|calcium-release channel activity|
|inositol 1,4,5 trisphosphate binding|
|transepithelial transport|
|endoplasmic reticulum calcium ion homeostasis|
|inositol phosphate-mediated signaling|
|fluid transport|
|negative regulation of calcium-mediated signaling|
|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress|
|transport vesicle membrane|
|multicellular organismal movement|
|musculoskeletal movement|
|sarcoplasmic reticulum|
|nuclear inner membrane|
|release of sequestered calcium ion into cytosol|
|negative regulation of sequestering of calcium ion|
|calcium ion transmembrane import into cytosol|
|regulation of cardiac conduction|
|calcium ion transport into cytosol|
|Schaffer collateral - CA1 synapse|
|phosphatidylinositol binding|
|cytosolic calcium ion transport|
|post-embryonic development|
|regulation of calcium-mediated signaling|
|secretory granule membrane|
|regulation of sequestering of calcium ion|
|platelet activation|
|cytoplasmic vesicle membrane|
|intrinsic apoptotic signaling pathway|
|regulation of insulin secretion|
|calcium ion transmembrane transport|
|regulation of peptide hormone secretion|
|regulation of heart contraction|
|calcium ion transport|
|postsynaptic density|
|response to endoplasmic reticulum stress|
|regulation of hormone secretion|
|positive regulation of cytosolic calcium ion concentration|
|apoptotic signaling pathway|
|regulation of blood circulation|
|blood coagulation|
|coagulation|
|divalent metal ion transport|
|hemostasis|
|divalent inorganic cation transport|
|regulation of cytosolic calcium ion concentration|
|regulation of autophagy|
|second-messenger-mediated signaling|
|response to hypoxia|
|response to decreased oxygen levels|
|response to oxygen levels|
|cellular calcium ion homeostasis|
|calcium ion homeostasis|
|regulation of protein secretion|
|cellular divalent inorganic cation homeostasis|
|wound healing|
|divalent inorganic cation homeostasis|
|regulation of peptide secretion|
|regulation of body fluid levels|
|negative regulation of intracellular signal transduction|
|regulation of hormone levels|
|cellular metal ion homeostasis|
|inorganic cation transmembrane transport|
|response to wounding|
|regulation of system process|
|cation transmembrane transport|
|metal ion homeostasis|
|cellular cation homeostasis|
|metal ion transport|
|cellular ion homeostasis|
|inorganic ion transmembrane transport|
|perinuclear region of cytoplasm|
|regulation of protein transport|
|cation homeostasis|
|inorganic ion homeostasis|
|calcium ion binding|
|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|
|regulation of cellular catabolic process|
|nucleolus|
|cellular homeostasis|
|apoptotic process|
|endoplasmic reticulum membrane|
|ion transmembrane transport|
|regulation of catabolic process|
|endoplasmic reticulum|
|regulation of protein localization|
|programmed cell death|
|cell activation|
|cell death|
|chemical homeostasis|
|response to abiotic stimulus|
|negative regulation of signal transduction|
|transmembrane transport|
|negative regulation of cell communication|
|negative regulation of signaling|
|ion transport|
|negative regulation of response to stimulus|
|homeostatic process|
|intracellular signal transduction|
|cellular response to stress|
|regulation of intracellular signal transduction|
|establishment of localization in cell|
|regulation of transport|
|membrane|
</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:exp82|Torin1 0.08μM R02 exp82]]|1.71|
|[[:results:exp50|Nicotinamide 2000μM R01 exp50]]|1.73|
|[[:results:exp71|KU-0063794 3.8μM R02 exp71]]|1.76|
|[[:results:exp447|Amiloride 100μM R08 exp447]]|1.89|
|[[:results:exp122|Golgicide-A 4μM R03 exp122]]|1.89|
|[[:results:exp70|INK128 0.2μM R02 exp70]]|1.95|
|[[:results:exp102|Nifuroxazide 5μM R03 exp102]]|1.95|
|[[:results:exp29|Rapamycin 1μM R00 exp29]]|1.98|
|[[:results:exp514|Phorbol-12-myristate-13-acetate 0.57μM R08 exp514]]|1.98|
|[[:results:exp100|NFN1 1μM R03 exp100]]|2|
|[[:results:exp488|Hippuristanol 0.12μM R08 exp488]]|2.24|
|[[:results:exp535|Trimetrexate 0.03μM R08 exp535]]|2.33|
|[[:results:exp25|Oligomycin-A 2μM R00 exp25]]|2.44|
|[[:results:exp429|Rapamycin 0.001μM R08 exp429]]|2.88|
|[[:results:exp30|Rapamycin 10μM R00 exp30]]|3.1|
</modal>

<modal id='Most_Correlated_Genes' size='lg' title='Most Correlated Genes in Chemogenomics'>
^Gene^Correlation^
|[[:human genes:p:ppp3r1|PPP3R1]]|0.58|
|[[:human genes:p:ppp3ca|PPP3CA]]|0.575|
|[[:human genes:n:nfatc3|NFATC3]]|0.547|
|[[:human genes:n:nckap1l|NCKAP1L]]|0.438|
|[[:human genes:g:gna15|GNA15]]|0.432|
|[[:human genes:z:zbtb18|ZBTB18]]|0.413|
|[[:human genes:e:ergic1|ERGIC1]]|0.405|
</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>**: 4319
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: 5.95 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='ITPR1 Expression in NALM6 Cells: 5.95'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>