Autoimmune regulator (AIRE) 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. "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)

2. "A novel missense mutation of AIRE gene in a patient with autoimmune polyendocrinopathy, candidiasis and ectodermal dystrophy (APECED), accompanied with progressive muscular atrophy: case report and review of the literature in Japan."Sato K., Nakajima K., Imamura H., Deguchi T., Horinouchi S., Yamazaki K., Yamada E., Kanaji Y., Takano K.Endocr. J. 49:625-633(2002)

Tissue Specificity

Widely expressed. Expressed at higher level in thymus (medullary epithelial cells and monocyte-dendritic cells), pancreas, adrenal cortex and testis. Expressed at lower level in the spleen, fetal liver and lymph nodes. 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). Isoform 2 and isoform 3 seem to be less frequently expressed than isoform 1, if at all.

Post-translational Modification

Phosphorylated. Phosphorylation could trigger oligomerization.

Subcellular Location

Nucleus, Cytoplasm

UNIPROT

SwissProt: O43918 Human

SwissProt: Q9Z0E3 Mouse

Synonyms