Autoimmune regulator Rabbit Polyclonal Antibody (0908-2)

UNIPROT #

Q9Z0E3

PROTEIN NAME

Autoimmune regulator

SYNONYMS

AIRE antibody;AIRE_HUMAN antibody;AIRE1 antibody;APECED antibody;APECED protein antibody;APS1 antibody;APSI antibody;Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy protein antibody;Autoimmune regulator antibody;Autoimmune regulator protein antibody;PGA1 antibody

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.

DEVELOPMENTAL STAGE

In the thymus, not expressed at 13.5 dpc but present at 16.5 dpc and postnatal day 1.

POST-TRANSLATIONAL MODIFICATION

Phosphorylated.

SUBCELLULAR LOCATION

Cell nuclear, cytoplasm

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).