| Gene Information | |
|---|---|
| Gene Name | MEF |
| Organism | Homo sapiens (Human) |
| Gene Length | 781 |
| Protein Names | Pyrin (Marenostrin) |
| Target Name | NA |
| Target Type | NA |
| Gene Age | NA |
| Evolutionary Stage | NA |
| AlphaFoldDB | O15553 |
| Gene Card | MEFV |
| Uniprot ID | O15553 |
| Pfam | PF13765; PF02758; PF00622; PF00643 |
| In ASD | no |
| Allosteric Prediction | NA |
| Ortholog in Animals | NA |
| Ohnologs | NA |
| Paralogs | NA |
| Tissue | NA |
| 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}. |
| Pharmacological Animal Models | NULL(Chimpanzee);NULL(Mouse);NULL(Rat);0.1(Rabbit) |
| Gene Ontology (biological process) |
|
| Gene Ontology (cellular component) |
|
| Gene Ontology (molecular function) |
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| PDB | 2MPC (NMR - ) 2WL1 (X-ray 1.35A ) 4CG4 (X-ray 2.40A ) |
| DBSNP | rs11466016 rs61754767 rs104895103 rs11466018 rs3743930 rs104895076 rs104895106 rs104895079 rs104895143 rs104895179 rs224222 rs104895080 rs104895127 rs1472692347 rs104895081 rs104895119 rs75977701 rs104895110 rs11466023 rs11466024 rs11466026 rs104895104 rs104895105 rs104895083 rs1057516210 rs104895193 rs11466043 rs11466045 rs967990798 rs104895128 rs104895115 rs104895147 rs104895107 rs104895108 rs104895085 rs104895086 rs104895120 rs104895087 rs104895088 rs28940580 rs104895089 rs104895090 rs104895122 rs104895093 rs28940578 rs1596350022 rs61752717 rs61752717 rs104895094 rs104895094 rs104895166 rs104895096 rs104895145 rs104895102 rs28940579 rs104895152 rs61732874 rs104895114 rs104895097 rs104895154 |
| Subcellular location [CC] | [Isoform 1]: Cytoplasm, cytoskeleton {ECO:0000269|PubMed:11468188, ECO:0000269|PubMed:19109554}. Cell projection, ruffle {ECO:0000269|PubMed:11468188}. Cell projection, lamellipodium {ECO:0000269|PubMed:11468188}. Nucleus {ECO:0000269|PubMed:11115844}. Cytoplasm {ECO:0000269|PubMed:10666224, ECO:0000269|PubMed:11498534, ECO:0000269|PubMed:18577712, ECO:0000269|PubMed:19584923, ECO:0000269|PubMed:26347139}. Cytoplasmic vesicle, autophagosome {ECO:0000269|PubMed:26347139}. Note=Associated with microtubules and with the filamentous actin of perinuclear filaments and peripheral lamellar ruffles (PubMed:11468188). In pre-apoptotic cells, colocalizes with PYCARD/ASC in large specks (inflammasomes) (PubMed:11468188). In migrating monocytes, strongly polarized at the leading edge of the cell where it colocalizes with polymerizing actin and PYCARD/ASC (PubMed:11468188). {ECO:0000269|PubMed:11468188}.; [Isoform 2]: Nucleus {ECO:0000269|PubMed:11115844}. |
| Mouse PG classification | NA |
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