MEFV [The Human Chemical-Genetic Interaction Map Project]

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======= MEFV =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: MEFV
  * **<color #00a2e8>Official Name</color>**: MEFV innate immuity regulator, pyrin
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=4210|4210]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/O15553|O15553]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=MEFV&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20MEFV|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/608107|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**:  This gene encodes a protein, also known as pyrin or marenostrin, that is an important modulator of innate immunity. Mutations in this gene are associated with Mediterranean fever, a hereditary periodic fever syndrome. [provided by RefSeq, Jul 2008]. 
  * **<color #00a2e8>UniProt Summary</color>**:  Involved in the regulation of innate immunity and the inflammatory response in response to IFNG/IFN-gamma. Organizes autophagic machinery by serving as a platform for the assembly of ULK1, Beclin 1/BECN1, ATG16L1, and ATG8 family members and recognizes specific autophagy targets, thus coordinating target recognition with assembly of the autophagic apparatus and initiation of autophagy. Acts as an autophagy receptor for the degradation of several inflammasome components, including CASP1, NLRP1 and NLRP3, hence preventing excessive IL1B- and IL18- mediated inflammation (PubMed:16785446, PubMed:17431422, PubMed:26347139). However, it may also have a positive effect in the inflammatory pathway. In different experimental systems, it has been shown to activate IL1B production (PubMed:16037825). It has also been shown to be required for PSTPIP1-induced PYCARD oligomerization and for formation of inflammasomes. Recruits PSTPIP1 to inflammasomes, and is required for PSTPIP1 oligomerization (PubMed:10807793, PubMed:11468188, PubMed:17964261, PubMed:18577712, PubMed:19109554, PubMed:19584923). {ECO:0000269|PubMed:10807793, ECO:0000269|PubMed:11468188, ECO:0000269|PubMed:16037825, ECO:0000269|PubMed:16785446, ECO:0000269|PubMed:17431422, ECO:0000269|PubMed:17964261, ECO:0000269|PubMed:18577712, ECO:0000269|PubMed:19109554, ECO:0000269|PubMed:19584923, ECO:0000269|PubMed:26347139}.

<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'>
|SPRY|
|PAAD DAPIN|
|zf-B box|
</modal>

<modal id='GO_terms' size='lg' title='GO Terms'>
|negative regulation of macrophage inflammatory protein 1 alpha production|
|regulation of macrophage inflammatory protein 1 alpha production|
|negative regulation of NLRP3 inflammasome complex assembly|
|regulation of NLRP3 inflammasome complex assembly|
|negative regulation of interleukin-12 production|
|negative regulation of cytokine production involved in inflammatory response|
|negative regulation of chemokine production|
|negative regulation of interleukin-1 beta production|
|microtubule associated complex|
|negative regulation of interleukin-1 production|
|regulation of cytokine production involved in inflammatory response|
|regulation of interleukin-12 production|
|autophagosome|
|regulation of chemokine production|
|regulation of interleukin-1 beta production|
|ruffle|
|regulation of interleukin-1 production|
|positive regulation of autophagy|
|negative regulation of protein complex assembly|
|negative regulation of inflammatory response|
|positive regulation of cysteine-type endopeptidase activity|
|positive regulation of endopeptidase activity|
|lamellipodium|
|response to interferon-gamma|
|positive regulation of peptidase activity|
|negative regulation of defense response|
|regulation of cysteine-type endopeptidase activity|
|cytoplasmic vesicle|
|actin binding|
|negative regulation of cytokine production|
|microtubule|
|regulation of autophagy|
|regulation of inflammatory response|
|positive regulation of proteolysis|
|negative regulation of response to external stimulus|
|positive regulation of cellular catabolic process|
|regulation of endopeptidase activity|
|positive regulation of catabolic process|
|regulation of peptidase activity|
|regulation of protein complex assembly|
|inflammatory response|
|regulation of cytokine production|
|negative regulation of cellular component organization|
|regulation of proteolysis|
|regulation of defense response|
|innate immune response|
|positive regulation of hydrolase activity|
|regulation of cellular catabolic process|
|zinc ion binding|
|defense response to other organism|
|regulation of cellular component biogenesis|
|regulation of catabolic process|
|identical protein binding|
|regulation of response to external stimulus|
|response to cytokine|
|negative regulation of multicellular organismal process|
|regulation of hydrolase activity|
|response to other organism|
|response to external biotic stimulus|
|response to biotic stimulus|
|defense response|
|positive regulation of catalytic activity|
|regulation of response to stress|
|positive regulation of cellular protein metabolic process|
|negative regulation of response to stimulus|
|positive regulation of protein metabolic process|
|positive regulation of molecular function|
|immune response|
</modal>
\\

 === CRISPR Data ===
<button type='default' 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'>
No hits were found.
</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>**: 4509
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: 4.0 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='MEFV Expression in NALM6 Cells: 4.0'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>