KPTN [The Human Chemical-Genetic Interaction Map Project]

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======= KPTN =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: KPTN
  * **<color #00a2e8>Official Name</color>**: kaptin, actin binding protein
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=11133|11133]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/Q9Y664|Q9Y664]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=KPTN&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20KPTN|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/615620|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**:  This gene encodes a filamentous-actin-associated protein, which is involved in actin dynamics and plays an important role in neuromorphogenesis. This protein is part of the KICSTOR protein complex that localizes to lysosomes. Mutations in this gene result in an autosomal recessive form of intellectual disability. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2017]. 
  * **<color #00a2e8>UniProt Summary</color>**:  As part of the KICSTOR complex functions in the amino acid-sensing branch of the TORC1 signaling pathway. Recruits, in an amino acid-independent manner, the GATOR1 complex to the lysosomal membranes and allows its interaction with GATOR2 and the RAG GTPases. Functions upstream of the RAG GTPases and is required to negatively regulate mTORC1 signaling in absence of amino acids. In absence of the KICSTOR complex mTORC1 is constitutively localized to the lysosome and activated. The KICSTOR complex is also probably involved in the regulation of mTORC1 by glucose. {ECO:0000269|PubMed:28199306}.

<button type='default' 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'>
No Pfam Domain information is available for this gene.
</modal>

<modal id='GO_terms' size='lg' title='GO Terms'>
|KICSTOR complex|
|postsynaptic actin cytoskeleton|
|negative regulation of TORC1 signaling|
|stereocilium|
|filamentous actin|
|protein localization to lysosome|
|regulation of TORC1 signaling|
|cellular response to glucose starvation|
|cellular response to amino acid starvation|
|response to amino acid starvation|
|negative regulation of TOR signaling|
|protein localization to vacuole|
|regulation of TOR signaling|
|cellular response to starvation|
|lamellipodium|
|response to starvation|
|actin filament binding|
|cellular response to nutrient levels|
|actin filament organization|
|cellular response to extracellular stimulus|
|lysosomal membrane|
|cellular response to external stimulus|
|supramolecular fiber organization|
|actin cytoskeleton organization|
|response to nutrient levels|
|negative regulation of intracellular signal transduction|
|response to extracellular stimulus|
|actin filament-based process|
|protein localization to organelle|
|cytoskeleton organization|
|negative regulation of signal transduction|
|negative regulation of cell communication|
|negative regulation of signaling|
|cellular protein localization|
|cellular macromolecule localization|
|negative regulation of response to stimulus|
|cellular response to stress|
|regulation of intracellular signal transduction|
</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:exp180|Dynasore 10μM R04 exp180]]|-3.38|
|[[:results:exp515|PU-H71 1μM R08 exp515]]|-2.95|
|[[:results:exp527|Tanespimycin 14μM R08 exp527]]|-2.64|
|[[:results:exp242|Radicicol 0.16μM R05 exp242]]|-2.57|
|[[:results:exp35|TRAIL 5ng/ml R00 exp35]]|-2.5|
|[[:results:exp103|Taxol 0.004μM R03 exp103]]|-2.3|
|[[:results:exp500|LY2090314 0.003μM R08 exp500 no dilution day6]]|-2.29|
|[[:results:exp21|MLN-4924 0.2μM R00 exp21]]|-2.28|
|[[:results:exp468|CB-5083 0.4μM R08 exp468]]|-2.23|
|[[:results:exp36|TRAIL 50ng/ml R00 exp36]]|-2.17|
|[[:results:exp106|UM131593 0.2μM R03 exp106]]|-2.13|
|[[:results:exp450|Artemisinin 50μM R08 exp450]]|-2.04|
|[[:results:exp499|LY2090314 0.003μM R08 exp499]]|-2.03|
|[[:results:exp416|Tubacin 1.6μM R07 exp416]]|-2.03|
|[[:results:exp513|ONC212 0.15μM R08 exp513]]|-2.02|
|[[:results:exp102|Nifuroxazide 5μM R03 exp102]]|-2|
|[[:results:exp520|Rucaparib 6.5μM R08 exp520]]|-1.95|
|[[:results:exp215|Colchicine 0.009μM R05 exp215]]|-1.93|
|[[:results:exp120|Dimethyl-Sulfoxide 1pc R03 exp120]]|-1.9|
|[[:results:exp3|Actinomycin-D 0.001μM R00 exp3]]|-1.89|
|[[:results:exp294|Nutlin-3A 1.6μM R06 exp294]]|-1.87|
|[[:results:exp175|3-Bromopyruvate 7μM R04 exp175]]|-1.84|
|[[:results:exp482|Fas-L 44ng/ml R08 exp482]]|-1.79|
|[[:results:exp164|Q15 1 to 2μM on day4 R04 exp164]]|-1.77|
|[[:results:exp122|Golgicide-A 4μM R03 exp122]]|-1.76|
|[[:results:exp111|R-DABN 8μM R03 exp111]]|-1.76|
|[[:results:exp365|I-BRD9 4μM R07 exp365]]|-1.73|
|[[:results:exp236|GSK2606414 1μM R05 exp236]]|1.72|
|[[:results:exp506|Momordin-Ic 10μM R08 exp506]]|1.78|
|[[:results:exp453|B02 10μM R08 exp453]]|1.79|
|[[:results:exp216|Erlotinib 10μM R05 exp216]]|1.93|
|[[:results:exp452|Azithromycin 100μM R08 exp452]]|1.99|
|[[:results:exp483|FTY720 3μM R08 exp483]]|2.01|
|[[:results:exp510|Nicotine 3000μM R08 exp510]]|2.18|
|[[:results:exp420|Tunicamycin 0.04 to 0.125μM  on day4 R07 exp420]]|2.2|
|[[:results:exp409|THZ531 0.11μM R07 exp409]]|2.33|
|[[:results:exp351|Dexamethasone 0.006μM R07 exp351]]|2.38|
|[[:results:exp423|Zebularine 20μM R07 exp423]]|2.47|
|[[:results:exp413|THZ531 0.11 to 0.175μM on day4 R07 exp413]]|2.49|
|[[:results:exp352|Dexamethasone 0.006 to 0.015μM on day4 R07 exp352]]|2.69|
|[[:results:exp485|GSK626616 14μM R08 exp485]]|3.23|
|[[:results:exp504|MK2206 4μM R08 exp504]]|3.78|
</modal>

<modal id='Most_Correlated_Genes' size='lg' title='Most Correlated Genes in Chemogenomics'>
^Gene^Correlation^
|[[:human genes:s:szt2|SZT2]]|0.774|
|[[:human genes:n:nprl2|NPRL2]]|0.737|
|[[:human genes:c:c12orf66|C12orf66]]|0.733|
|[[:human genes:n:nprl3|NPRL3]]|0.729|
|[[:human genes:d:depdc5|DEPDC5]]|0.714|
|[[:human genes:i:itfg2|ITFG2]]|0.703|
|[[:human genes:s:sesn2|SESN2]]|0.606|
|[[:human genes:t:tsc2|TSC2]]|0.556|
|[[:human genes:t:tsc1|TSC1]]|0.491|
|[[:human genes:c:ccdc130|CCDC130]]|0.415|
|[[:human genes:a:anp32a|ANP32A]]|0.415|
|[[:human genes:x:xrn2|XRN2]]|0.414|
</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>**: 13808
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: 3.89 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='KPTN Expression in NALM6 Cells: 3.89'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>