Autoimmune regulator Rabbit Polyclonal Antibody

Function

The Autoimmune Regulator (AIRE) is a human transcription factor expressed at higher level in thymus, pancreas, adrenal cortex, and testis. It is expressed at lower level in the spleen, fetal liver and lymph nodes. It contains zinc finger motifs and isoform 1 is localized to both the nucleus and cytoplasm. Three splice variant mRNAs products have been described. In the thymus it causes transcription of a wide selection of organ-specific genes which create proteins that are usually only expressed in peripheral tissues, creating an "immunological self-shadow" in the thymus. Defects in AIRE are a cause of autoimmune poly-endocrinopathy candidiasis ectodermal dystrophy (APECED), also known as autoimmune polyglandular syndrome type I (APS-1).

Background References

1. "Isolation and characterization of the mouse Aire gene."Mittaz L., Rossier C., Heino M., Petersen P., Krohn K.J.E., Gos A., Morris M.A., Kudoh J., Shimizu N., Antonarakis S.E., Scott H.S.Biochem. Biophys. Res. Commun. 255:483-490(1999)

2. "Aire employs a histone-binding module to mediate immunological tolerance, linking chromatin regulation with organ-specific autoimmunity."Koh A.S., Kuo A.J., Park S.Y., Cheung P., Abramson J., Bua D., Carney D., Shoelson S.E., Gozani O., Kingston R.E., Benoist C., Mathis D.Proc. Natl. Acad. Sci. U.S.A. 105:15878-15883(2008)

3. "The autoimmune regulator (AIRE) is a DNA-binding protein."Kumar P.G., Laloraya M., Wang C.-Y., Ruan Q.-G., Davoodi-Semiromi A., Kao K.-J., She J.-X.J. Biol. Chem. 276:41357-41364(2001)

Tissue Specificity

Highly expressed in a few cells in the medulla of the thymus (medullary epithelial cells) (at protein level). Expressed in thymic but no peripheral B-cells. In secondary lymphoid organs, expressed in a discrete population of bone marrow-derived toleregenic antigen presenting cells (APCs) called extrathymic AIRE expressing cells (eTAC)(at protein level). Detected at very low levels in thymus, lymph node, liver, brain, ovary, lung, testis, kidney, heart, spleen, bone marrow, skeletal muscle and adrenal gland. Isoforms 1a to 1d predominate, isoforms 2a to 2d are intermediate and isoforms 3a to 3d are expressed at extremely low levels.

Post-translational Modification

Phosphorylated.

Subcellular Location

Cell nuclear, cytoplasm

UNIPROT

SwissProt: Q9Z0E3 Mouse

SwissProt: O43918 Human

Synonyms