ImmunoDeficiency Resource (IDR)

Names

HUGO name: MEFV

Alias(es):

Localization

Reference sequences

Chromosomal location

Maps

Variations / Mutations

Other gene-based resources

Description

Protein function:

Probably controls the inflammatory response in myelomonocytic cells at the level of the cytoskeleton organization.

Subcellular location:

Cytoplasmic, associated with microtubules and with the filamentous actin of perinuclear filaments and peripheral lamellar ruffles (isoform 1); nuclear (isoform 2).

Developmental stage:

First detected in bone marrow promyelocytes. Expression increases throughout myelocyte differentiation and peaks in the mature myelomonocytic cells.

Induction:

In monocytes, by treatment with colchicine and IFN-alpha, and by the proinflammatory cytokines IFN-gamma, TNF-alpha and 1ps. Repressed in monocytes by the antiinflammatory cytokines IL-10, TGF-beta and IL-4. In neutrophils, colchicine, TNF-alpha, lps, IL-10, INF-alpha and IL-4 has no effect on expression. INF-gamma increases expression in neutrophils.

Tissue specificity:

Expressed in peripheral blood leucocytes, 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 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 leukemic, colon cancer, and prostate cancer cell lines.

Similarity:

Contains 1 b box-type zinc finger.

Structures (PDB)

Domains

DAPIN domain: 1-92

Other features

Zinc finger region B box-type: 370-412

Other related resourses:

Expression pattern for human

Animal models

Mouse