MVK [The Human Chemical-Genetic Interaction Map Project]

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======= MVK =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: MVK
  * **<color #00a2e8>Official Name</color>**: mevalonate kinase
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=4598|4598]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/Q03426|Q03426]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=MVK&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20MVK|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/251170|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**:  This gene encodes the peroxisomal enzyme mevalonate kinase. Mevalonate is a key intermediate, and mevalonate kinase a key early enzyme, in isoprenoid and sterol synthesis. Mevalonate kinase deficiency caused by mutation of this gene results in mevalonic aciduria, a disease characterized psychomotor retardation, failure to thrive, hepatosplenomegaly, anemia and recurrent febrile crises. Defects in this gene also cause hyperimmunoglobulinaemia D and periodic fever syndrome, a disorder characterized by recurrent episodes of fever associated with lymphadenopathy, arthralgia, gastrointestinal dismay and skin rash. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]. 
  * **<color #00a2e8>UniProt Summary</color>**:  May be a regulatory site in cholesterol biosynthetic pathway.

<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'>
|GHMP kinases N|
</modal>

<modal id='GO_terms' size='lg' title='GO Terms'>
|mevalonate kinase activity|
|isopentenyl diphosphate biosynthetic process, mevalonate pathway|
|isopentenyl diphosphate metabolic process|
|isopentenyl diphosphate biosynthetic process|
|isoprenoid biosynthetic process|
|acetyl-CoA metabolic process|
|cholesterol biosynthetic process|
|regulation of cholesterol biosynthetic process|
|secondary alcohol biosynthetic process|
|regulation of sterol biosynthetic process|
|sterol biosynthetic process|
|regulation of cholesterol metabolic process|
|regulation of alcohol biosynthetic process|
|regulation of steroid biosynthetic process|
|acyl-CoA metabolic process|
|thioester metabolic process|
|peroxisome|
|alcohol biosynthetic process|
|regulation of steroid metabolic process|
|cholesterol metabolic process|
|steroid biosynthetic process|
|secondary alcohol metabolic process|
|ribonucleoside bisphosphate metabolic process|
|nucleoside bisphosphate metabolic process|
|purine nucleoside bisphosphate metabolic process|
|sterol metabolic process|
|negative regulation of inflammatory response|
|isoprenoid metabolic process|
|organic hydroxy compound biosynthetic process|
|regulation of lipid biosynthetic process|
|negative regulation of defense response|
|magnesium ion binding|
|phospholipid biosynthetic process|
|coenzyme metabolic process|
|steroid metabolic process|
|purine ribonucleotide metabolic process|
|alcohol metabolic process|
|ribonucleotide metabolic process|
|purine nucleotide metabolic process|
|ribose phosphate metabolic process|
|regulation of inflammatory response|
|negative regulation of response to external stimulus|
|sulfur compound metabolic process|
|purine-containing compound metabolic process|
|phospholipid metabolic process|
|regulation of lipid metabolic process|
|regulation of small molecule metabolic process|
|cofactor metabolic process|
|nucleotide metabolic process|
|nucleoside phosphate metabolic process|
|organic hydroxy compound metabolic process|
|organophosphate biosynthetic process|
|nucleobase-containing small molecule metabolic process|
|lipid biosynthetic process|
|small molecule biosynthetic process|
|regulation of defense response|
|cellular amide metabolic process|
|organophosphate metabolic process|
|cellular lipid metabolic process|
|carbohydrate derivative metabolic process|
|identical protein binding|
|regulation of response to external stimulus|
|lipid metabolic process|
|phosphorylation|
|organic cyclic compound biosynthetic process|
|regulation of response to stress|
|ATP binding|
|negative regulation of response to stimulus|
|small molecule 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:exp28|Pimelic-diphenylamide-106 5μM R00 exp28]]|-2.68|
|[[:results:exp227|Cryptotanshinone 12μM R05 exp227]]|-2.36|
|[[:results:exp471|Cholesterol 0.003 to 0.006 to 0.1μM on day2 then day6 R08 exp471]]|-2.06|
|[[:results:exp444|THZ531 0.225μM R08 exp444]]|-1.92|
|[[:results:exp494|Isoniazid 100μM R08 exp494]]|-1.8|
|[[:results:exp312|2-Methoxyestradiol 0.55 to 1μM on day4 R07 exp312]]|-1.74|
</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: 583/739
^Tissue^Fraction Of Cell Lines Where Essential^
|1290807.0|0/1|
|909776.0|0/1|
|bile duct|26/28|
|blood|27/28|
|bone|18/26|
|breast|24/33|
|central nervous system|27/56|
|cervix|3/4|
|colorectal|13/17|
|esophagus|8/13|
|fibroblast|1/1|
|gastric|16/16|
|kidney|19/21|
|liver|11/20|
|lung|60/75|
|lymphocyte|14/16|
|ovary|19/26|
|pancreas|22/24|
|peripheral nervous system|13/16|
|plasma cell|15/15|
|prostate|0/1|
|skin|21/24|
|soft tissue|9/9|
|thyroid|1/2|
|upper aerodigestive|14/22|
|urinary tract|19/29|
|uterus|2/5|
</modal>

== Essentiality in NALM6  ==
    * **<color #00a2e8>Essentiality Rank</color>**: 198
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: 4.39 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='MVK Expression in NALM6 Cells: 4.39'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>