======= PIKFYVE =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: PIKFYVE
  * **<color #00a2e8>Official Name</color>**: phosphoinositide kinase, FYVE-type zinc finger containing
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=200576|200576]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/Q9Y2I7|Q9Y2I7]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=PIKFYVE&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20PIKFYVE|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/609414|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**:  Phosphorylated derivatives of phosphatidylinositol (PtdIns) regulate cytoskeletal functions, membrane trafficking, and receptor signaling by recruiting protein complexes to cell- and endosomal-membranes. Humans have multiple PtdIns proteins that differ by the degree and position of phosphorylation of the inositol ring. This gene encodes an enzyme (PIKfyve; also known as phosphatidylinositol-3-phosphate 5-kinase type III or PIPKIII) that phosphorylates the D-5 position in PtdIns and phosphatidylinositol-3-phosphate (PtdIns3P) to make PtdIns5P and PtdIns(3,5)biphosphate. The D-5 position also can be phosphorylated by type I PtdIns4P-5-kinases (PIP5Ks) that are encoded by distinct genes and preferentially phosphorylate D-4 phosphorylated PtdIns. In contrast, PIKfyve preferentially phosphorylates D-3 phosphorylated PtdIns. In addition to being a lipid kinase, PIKfyve also has protein kinase activity. PIKfyve regulates endomembrane homeostasis and plays a role in the biogenesis of endosome carrier vesicles from early endosomes. Mutations in this gene cause corneal fleck dystrophy (CFD); an autosomal dominant disorder characterized by numerous small white flecks present in all layers of the corneal stroma. Histologically, these flecks appear to be keratocytes distended with lipid and mucopolysaccharide filled intracytoplasmic vacuoles. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, May 2010]. 
  * **<color #00a2e8>UniProt Summary</color>**:  The PI(3,5)P2 regulatory complex regulates both the synthesis and turnover of phosphatidylinositol 3,5-bisphosphate (PtdIns(3,5)P2). Catalyzes the phosphorylation of phosphatidylinositol 3-phosphate on the fifth hydroxyl of the myo- inositol ring, to form phosphatidylinositol 3,5-bisphosphate. Required for endocytic-vacuolar pathway and nuclear migration. Plays a role in the biogenesis of endosome carrier vesicles (ECV)/ multivesicular bodies (MVB) transport intermediates from early endosomes. {ECO:0000269|PubMed:17556371}.

<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'>
|FYVE|
|DEP|
|PIP5K|
|Cpn60 TCP1|
</modal>

<modal id='GO_terms' size='lg' title='GO Terms'>
|1-phosphatidylinositol-3-phosphate 5-kinase activity|
|phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity|
|phosphatidylinositol 5-phosphate metabolic process|
|1-phosphatidylinositol-4-phosphate 5-kinase activity|
|phosphatidylinositol-3-phosphate biosynthetic process|
|myelin assembly|
|vesicle membrane|
|regulation of autophagosome assembly|
|regulation of vacuole organization|
|phosphatidylinositol phosphorylation|
|lipid phosphorylation|
|retrograde transport, endosome to Golgi|
|cellular component assembly involved in morphogenesis|
|myelination|
|ensheathment of neurons|
|axon ensheathment|
|phosphatidylinositol biosynthetic process|
|late endosome membrane|
|cytosolic transport|
|early endosome membrane|
|protein localization to nucleus|
|phosphatidylinositol metabolic process|
|cell-cell junction|
|regulation of macroautophagy|
|lipid modification|
|glycerophospholipid biosynthetic process|
|endosome membrane|
|regulation of organelle assembly|
|glycerolipid biosynthetic process|
|membrane raft|
|endosomal transport|
|receptor-mediated endocytosis|
|phospholipid biosynthetic process|
|glycerophospholipid metabolic process|
|regulation of autophagy|
|phospholipid metabolic process|
|glycerolipid metabolic process|
|organophosphate biosynthetic process|
|endocytosis|
|lipid biosynthetic process|
|Golgi membrane|
|import into cell|
|perinuclear region of cytoplasm|
|protein localization to organelle|
|cellular component morphogenesis|
|regulation of cellular catabolic process|
|zinc ion binding|
|organophosphate metabolic process|
|anatomical structure formation involved in morphogenesis|
|cellular lipid metabolic process|
|regulation of cellular component biogenesis|
|regulation of catabolic process|
|lipid metabolic process|
|phosphorylation|
|regulation of organelle organization|
|ATP binding|
|intracellular transport|
|cellular protein localization|
|cellular macromolecule localization|
|intracellular signal transduction|
|establishment of localization in cell|
|vesicle-mediated transport|
</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:exp37|Wortmannin 0.5μM R00 exp37]]|-2.12|
|[[:results:exp5|Alpha-Amanitin 0.5μM R00 exp5]]|-1.91|
|[[:results:exp145|PNU96415E 10μM R03 exp145]]|-1.77|
|[[:results:exp151|SGC0946 7μM R03 exp151]]|1.71|
|[[:results:exp482|Fas-L 44ng/ml R08 exp482]]|1.78|
|[[:results:exp358|FK-506 5μM R07 exp358]]|1.82|
|[[:results:exp21|MLN-4924 0.2μM R00 exp21]]|1.88|
|[[:results:exp488|Hippuristanol 0.12μM R08 exp488]]|2.02|
</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>**: 17050
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: 7.51 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='PIKFYVE Expression in NALM6 Cells: 7.51'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>