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pyrin; marenostrin (MEFV, MEF)
Function:
1) probably controls the inflammatory response in myelomonocytic cells at the level of the cytoskeleton organization
2) may inhibit complement C5a
3) may inhibit IL-8
4) 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
- familial Mediterranean fever (FMF)
- autosomal recessive FMF
- autosomal dominant FMF
Related
familial Mediterranean fever (FMF, recurrent polyserositis)
MEFV (pyrin) gene mutation
pyrin gene or Mediterranean fever (MEFV) gene
General
nuclear protein
Properties
SIZE: entity length = 781 aa
MW = 86 kD
COMPARTMENT: cytoplasm
cell nucleus
MOTIF: DAPIN domain {1-92}
zinc finger B box
SITE: 370-412
EFFECTOR-BOUND: Zn+2
nuclear translocation signal {420-437}
B30.2/SPRY {580-775}
Database Correlations
OMIM correlations
MORBIDMAP 608107
UniProt O15553
PFAM correlations
Entrez Gene 4210
Kegg hsa:4210
References
- UniProt :accession O15553
- 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