Homo sapiens Protein: MEFV | |||||||||||||||||||
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Summary | |||||||||||||||||||
InnateDB Protein | IDBP-594984.3 | ||||||||||||||||||
Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||||||
Gene Symbol | MEFV | ||||||||||||||||||
Protein Name | Mediterranean fever | ||||||||||||||||||
Synonyms | FMF; MEF; TRIM20; | ||||||||||||||||||
Species | Homo sapiens | ||||||||||||||||||
Ensembl Protein | ENSP00000445079 | ||||||||||||||||||
InnateDB Gene | IDBG-11729 (MEFV) | ||||||||||||||||||
Protein Structure | |||||||||||||||||||
UniProt Annotation | |||||||||||||||||||
Function | Involved in innate immunity and the inflammatory response. Interacts with several components of the inflammasome complex, a large oligomeric structure which recruits and activates CASP1 and ultimately induces maturation of cytokines such as IL1B. However, the exact role of MEFV in the inflammatory pathway is uncertain as contradictory effects on IL1B processing have been reported in different experimental systems. Has been shown to activate IL1B production (PubMed:16037825). Has also been shown to inhibit IL1B production (PubMed:16785446, PubMed:17431422). Also required for PSTPIP1-induced PYCARD oligomerization and for formation of pyroptosomes, large supramolecular structures composed of oligomerized PYCARD dimers which form prior to inflammatory apoptosis. Can reduce PYCARD-induced apoptosis. Recruits PSTPIP1 to pyroptosomes, and required for PSTPIP1 oligomerization. {ECO:0000269PubMed:10807793, ECO:0000269PubMed:11468188, ECO:0000269PubMed:16037825, ECO:0000269PubMed:16785446, ECO:0000269PubMed:17431422, ECO:0000269PubMed:17964261, ECO:0000269PubMed:18577712, ECO:0000269PubMed:19109554, ECO:0000269PubMed:19584923}. | ||||||||||||||||||
Subcellular Localization | Isoform 1: Cytoplasm, cytoskeleton. Cell projection, ruffle. Cell projection, lamellipodium. Nucleus. Note=Associated with microtubules and with the filamentous actin of perinuclear filaments and peripheral lamellar ruffles. In pre- apoptotic cells, colocalizes with PYCARD/ASC in large specks (pyroptosomes). In migrating monocytes, strongly polarized at the leading edge of the cell where it colocalizes with polymerizing actin and PYCARD/ASC.Isoform 2: Nucleus. | ||||||||||||||||||
Disease Associations | Familial Mediterranean fever, autosomal recessive (ARFMF) [MIM:249100]: A hereditary periodic fever syndrome characterized by recurrent episodic fever, serosal inflammation and pain in the abdomen, chest or joints. It is frequently complicated by reactive amyloidosis, which leads to renal failure and can be prophylactically treated with colchicine. {ECO:0000269PubMed:10024914, ECO:0000269PubMed:10090880, ECO:0000269PubMed:10234504, ECO:0000269PubMed:10364520, ECO:0000269PubMed:10612841, ECO:0000269PubMed:10842288, ECO:0000269PubMed:10854105, ECO:0000269PubMed:11470495, ECO:0000269PubMed:15024744, ECO:0000269PubMed:16378925, ECO:0000269PubMed:16730661, ECO:0000269PubMed:23031807, ECO:0000269PubMed:9288094, ECO:0000269PubMed:9288758, ECO:0000269PubMed:9668175}. Note=The disease is caused by mutations affecting the gene represented in this entry.Familial Mediterranean fever, autosomal dominant (ADFMF) [MIM:134610]: A hereditary periodic fever syndrome characterized by periodic fever, serosal inflammation and pain in the abdomen, chest or joints as seen also in the autosomal recessive form of the disease. It is associated with reactive renal amyloidosis and characterized by colchicine unresponsiveness. {ECO:0000269PubMed:10787449, ECO:0000269PubMed:14679589}. Note=The disease is caused by mutations affecting the gene represented in this entry. | ||||||||||||||||||
Tissue Specificity | Expressed in peripheral blood leukocytes, particularly in mature granulocytes and to a lesser extent in monocytes but not in lymphocytes. Detected in spleen, lung and muscle, probably as a result of leukocyte 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 leukemic, colon cancer, and prostate cancer cell lines. {ECO:0000269PubMed:10666224, ECO:0000269PubMed:10807793, ECO:0000269PubMed:11115844}. | ||||||||||||||||||
Comments | |||||||||||||||||||
Interactions | |||||||||||||||||||
Number of Interactions |
This gene and/or its encoded proteins are associated with 20 experimentally validated interaction(s) in this database.
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Gene Ontology | |||||||||||||||||||
Molecular Function |
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Biological Process |
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Cellular Component |
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Protein Structure and Domains | |||||||||||||||||||
PDB ID | |||||||||||||||||||
InterPro |
IPR000315
Zinc finger, B-box IPR001870 B30.2/SPRY domain IPR003877 SPRY domain IPR003879 Butyrophylin-like IPR004020 DAPIN domain IPR006574 SPRY-associated IPR008985 Concanavalin A-like lectin/glucanases superfamily IPR011029 Death-like domain |
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PFAM |
PF00643
PF00622 PF02758 PF13765 |
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PRINTS |
PR01407
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PIRSF | |||||||||||||||||||
SMART |
SM00336
SM00449 SM00589 |
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TIGRFAMs | |||||||||||||||||||
Post-translational Modifications | |||||||||||||||||||
Modification | |||||||||||||||||||
Cross-References | |||||||||||||||||||
SwissProt | O15553 | ||||||||||||||||||
PhosphoSite | PhosphoSite-O15553 | ||||||||||||||||||
TrEMBL | I4DSV7 | ||||||||||||||||||
UniProt Splice Variant | |||||||||||||||||||
Entrez Gene | 4210 | ||||||||||||||||||
UniGene | Hs.632221 | ||||||||||||||||||
RefSeq | |||||||||||||||||||
HUGO | HGNC:6998 | ||||||||||||||||||
OMIM | 608107 | ||||||||||||||||||
CCDS | |||||||||||||||||||
HPRD | 02012 | ||||||||||||||||||
IMGT | |||||||||||||||||||
EMBL | AB726085 AF018080 AF111163 AF301150 AF301151 AJ003147 BC101511 BC101537 CH471112 Y14441 | ||||||||||||||||||
GenPept | AAB70557 AAD26152 AAI01512 AAI01538 AAK97223 AAK97224 BAM20997 CAA05906 CAA74793 EAW85382 EAW85383 | ||||||||||||||||||