MEFV

Gene Information

Official Symbol: MEFV
Official Name: MEFV innate immuity regulator, pyrin
Aliases and Previous Symbols: N/A
Entrez ID: 4210
UniProt: O15553
Interactions: BioGRID
PubMed articles: Open PubMed
OMIM: Open OMIM

Function Summary

Entrez Summary: 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].
UniProt Summary: 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}.

Pfam Domains GO Terms

CRISPR Data

Compound Hit Most Correlated Genes in Chemogenomics 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

Essentiality in NALM6

Essentiality Rank: 4509
Expression level (log2 read counts): 4.0

Expression Distribution

SPRY
PAAD DAPIN
zf-B box

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