pyrin; marenostrin (MEFV, MEF)
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Function
- probably controls the inflammatory response in myelomonocytic cells at the level of the cytoskeleton organization
- may inhibit complement C5a
- may inhibit IL-8
- interacts with PSTPIP1
Structure
- contains 1 B box-type Zn+2 finger
- contains 1 B30.2/SPRY domain
- contains 1 DAPIN domain
Compartment
- isoform 1: cytoplasm, cytoskeleton
- associated with microtubules & with the filamentous actin of perinuclear filaments & peripheral lamellar ruffles
- isoform 2: nucleus
Alternative splicing
named isoforms=2
Expression
- expressed in peripheral blood leukocytes, particularly in mature granulocytes & to a lesser extent in monocytes (expressed predominantly in neutrophils)
- not expressed in lymphocytes
- detected in spleen, lung & muscle, probably as a result of leucocyte infiltration in these tissues
- not expressed in thymus, prostate, testis, ovary, small intestine, colon, heart, brain, placenta, liver, kidney, pancreas
- expression detected in several myeloid leukemia, colon cancer, & prostate cancer cell lines
- first detected in bone marrow promyelocytes
- expression increases throughout myelocyte differentiation & peaks in the mature myelomonocytic cells
- induced in monocytes, by treatment with colchicine & IFN-alpha, & by the proinflammatory cytokines IFN-gamma, TNF-alpha & LPS
- repressed in monocytes by the anti-inflammatory cytokines IL-10, TGF-beta & IL-4
- in neutrophils, colchicine, TNF-alpha, LPS, IL-10, INF-alpha & IL-4 has no effect on expression
- INF-gamma increases expression in neutrophils
Pathology
- defects in MEFV are the cause of
More general terms
Additional terms
References
- ↑ UniProt http://www.uniprot.org/uniprot/O15553.html
- ↑ Genedis; Note: Familial mediterranean fever (FMF) disease website http://www.tau.ac.il/lifesci/bioinfo/genedis/fmf/fmf.html
- ↑ INFEVERS; Note: repertory of FMF & hereditary autoinflammatory disorders mutations http://fmf.igh.cnrs.fr/ISSAID/infevers/disease_menu.php?n=1
- ↑ GeneReviews http://www.ncbi.nlm.nih.gov/sites/genetests/lab/gene/MEFV
Database
- Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=4210
- Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:4210
- OMIM: https://mirror.omim.org/entry/134610
- OMIM: https://mirror.omim.org/entry/249100
- OMIM: https://mirror.omim.org/entry/608107
- UniProt: http://www.uniprot.org/uniprot/O15553.html