MEFV blocking peptide

MEFV Antibody(Center) Blocking peptide

• Gene Names: MEFV; FMF; MEF; TRIM20
• Synonyms: MEFV; MEFV Antibody(Center) Blocking peptide; Pyrin; Marenostrin; MEF; MEFV blocking peptide

• Form/Format: Synthetic peptide was lyophilized with 100% acetonitrile and is supplied as a powder. Reconstitute with 0.1 ml DI water for a final concentration of 1 mg/ml.
• Sequence Length: 781

• Cellular 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 Location: 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.
• Preparation and Storage: Maintain refrigerated at 2-8 degree C for up to 6 months. For long term storage store at -20 degree C.

Related Product Information for MEFV blocking peptide

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.

NCBI and Uniprot Product Information

• NCBI GI #: 8928170
• NCBI GeneID: 4210
• UniProt Accession #: O15553; Q3MJ84; Q96PN4; Q96PN5; D3DUC0; F5H0Q3
• Molecular Weight: 50,837 Da
• NCBI Official Full Name: Pyrin
• NCBI Official Synonym Full Names: Mediterranean fever
• NCBI Official Symbol: MEFV
• NCBI Official Synonym Symbols: FMF; MEF; TRIM20
• NCBI Protein Information: pyrin
• UniProt Protein Name: Pyrin
• Protein Family: Pyrin
• UniProt Gene Name: MEFV
• UniProt Entry Name: MEFV_HUMAN

NCBI Description

This gene encodes a protein, also known as pyrin or marenostrin, that is an important modulator of innate immunity. Mutations in this gene are associated with Mediterranean fever, a hereditary periodic fever syndrome. [provided by RefSeq, Jul 2008]

Uniprot Description

pyrin: Probably controls the inflammatory response in myelomonocytic cells at the level of the cytoskeleton organization. Defects in MEFV are the cause of familial Mediterranean fever autosomal recessive (ARFMF). ARFMF is an inherited disorder characterized by recurrent episodic fever, serosal inflammation and pain in the abdomen, chest or joints. ARFMF is frequently complicated by amyloidosis, which leads to renal failure and can be prophylactically treated with colchicine. ARFMF primarily affects ancestral ethnic groups living around the Mediterranean basin: North African Jews, Armenians, Arabs and Turks. The disease is also distributed in other populations including Greeks, Cypriots, Italians and Spanish, although at a lower prevalence. Defects in MEFV are the cause of familial Mediterranean fever autosomal dominant (ADFMF). ADFMF is 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 renal amyloidosis and characterized by colchicine unresponsiveness. 2 isoforms of the human protein are produced by alternative splicing.

Chromosomal Location of Human Ortholog: 16p13.3

Cellular Component: cytoplasm; cytosol; microtubule associated complex; nucleus

Molecular Function: actin binding; protein binding

Biological Process: inflammatory response; negative regulation of inflammatory response; negative regulation of interleukin-1 beta production; negative regulation of interleukin-12 production; positive regulation of autophagy

Disease: Familial Mediterranean Fever; Familial Mediterranean Fever, Autosomal Dominant