| Gene Symbol |
MEFV
|
| Entrez Gene |
4210
|
| Alt Symbol |
FMF, MEF, TRIM20
|
| Species |
Human
|
| Gene Type |
protein-coding
|
| Description |
Mediterranean fever
|
| Other Description |
marenostrin|pyrin
|
| Swissprots |
D3DUC0 Q96PN5 Q3MJ84 F5H0Q3 O15553 Q96PN4
|
| Accessions |
AAD26152 AAK97223 AAK97224 ABQ57362 BAM20997 CAA05906 EAW85382 EAW85383 O15553 AF018080 AAB70557 AK298660 BAG60828 BC101511 AAI01512 BC101537 AAI01538 FJ785717 ACV82585 FJ785718 ACV82586 FJ785719 ACV82587 FJ785720 ACV82588 FJ785721 ACV82589 FJ785722 ACV82590 Y14441 CAA74793 NM_000243 NP_000234 NM_001198536 NP_001185465
|
| 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:0000269|PubMed:10807793, ECO:0000269|PubMed:11468188, ECO:0000269|PubMed:16037825, ECO:0000269|PubMed:16785446,
|
| Subcellular Location |
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.
|
| 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:0000269|PubMed:10666224, ECO:0000269|PubMed:10807793, ECO:0000269|PubMed:11115844}.
|
| Top Pathways |
NOD-like receptor signaling pathway
|