VAC14 [The Human Chemical-Genetic Interaction Map Project]

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======= VAC14 =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: VAC14
  * **<color #00a2e8>Official Name</color>**: VAC14 component of PIKFYVE complex
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=55697|55697]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/Q08AM6|Q08AM6]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=VAC14&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20VAC14|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/604632|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**:  This gene encodes a scaffold protein that is a component of the PIKfyve protein kinase complex. This complex is responsible for the synthesis of phosphatidylinositol 3,5-bisphosphate, an important component of cellular membranes, from phosphatidylinositol 3-phosphate. Mice lacking a functional copy of this gene exhibit severe neurodegeneration. Mutations in the human gene have been identified in patients with a childhood onset progressive neurological disorder characterized by impaired movement, dystonia, and striatal abnormalities. [provided by RefSeq, May 2017]. 
  * **<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). Acts as a positive activator of PIKfyve kinase activity. Also required to maintain normal levels of phosphatidylinositol 3-phosphate (PtdIns(3)P) and phosphatidylinositol 5-phosphate (PtdIns(5)P). Plays a role in the biogenesis of endosome carrier vesicles (ECV) / multivesicular bodies (MVB) transport intermediates from early endosomes. {ECO:0000269|PubMed:15542851, 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'>
|Vac14 Fig4 bd|
|Vac14 Fab1 bd|
</modal>

<modal id='GO_terms' size='lg' title='GO Terms'>
|extrinsic component of vacuolar membrane|
|PAS complex|
|phosphatidylinositol biosynthetic process|
|late endosome membrane|
|early endosome membrane|
|phosphatidylinositol metabolic process|
|signaling receptor activity|
|glycerophospholipid biosynthetic process|
|endosome membrane|
|glycerolipid biosynthetic process|
|phospholipid biosynthetic process|
|glycerophospholipid metabolic process|
|phospholipid metabolic process|
|glycerolipid metabolic process|
|organophosphate biosynthetic process|
|lipid biosynthetic process|
|Golgi membrane|
|viral process|
|symbiotic process|
|interspecies interaction between organisms|
|organophosphate metabolic process|
|cellular lipid metabolic process|
|endoplasmic reticulum|
|lipid metabolic 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:exp326|CCT251545 20μM R07 exp326]]|-3.34|
|[[:results:exp530|Thioridazine 5μM R08 exp530]]|-3.11|
|[[:results:exp131|L-74142 5μM R03 exp131]]|-3|
|[[:results:exp433|LJH685 50μM R08 exp433]]|-3|
|[[:results:exp454|Bafilomycin-A1 0.009μM R08 exp454]]|-2.65|
|[[:results:exp146|Quinacrine 2.5μM R03 exp146]]|-2.31|
|[[:results:exp16|DABN 2μM R00 exp16]]|-2.05|
|[[:results:exp68|Clomiphene 4.4μM R02 exp68]]|-1.93|
|[[:results:exp233|EPZ-5676 30μM R05 exp233]]|-1.85|
|[[:results:exp149|SB203580 25μM R03 exp149]]|-1.82|
|[[:results:exp180|Dynasore 10μM R04 exp180]]|-1.8|
|[[:results:exp471|Cholesterol 0.003 to 0.006 to 0.1μM on day2 then day6 R08 exp471]]|-1.73|
|[[:results:exp483|FTY720 3μM R08 exp483]]|-1.72|
|[[:results:exp539|42°C R08 exp539]]|-1.71|
|[[:results:exp245|UM0011500 5μM R05 exp245]]|1.96|
</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: 5/739
^Tissue^Fraction Of Cell Lines Where Essential^
|1290807.0|0/1|
|909776.0|0/1|
|bile duct|2/28|
|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|1/20|
|lung|0/75|
|lymphocyte|0/16|
|ovary|1/26|
|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>**: 14714
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: 5.49 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='VAC14 Expression in NALM6 Cells: 5.49'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>