AIRE_MOUSE Q9Z0E3
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UniProt:Q9Z0E3
Recommended name:Autoimmune regulator
EC number:
Alternative names:(Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy protein homolog) (APECED protein homolog)
Cleaved into:
GeneID:11634
Gene names (primary ):Aire
Gene names (synonym ):
Gene names (ORF ):
Length:552
Mass:59042
Sequence:MAGGDGMLRRLLRLHRTEIAVAIDSAFPLLHALADHDVVPEDKFQETLRLKEKEGCPQAFHALLSWLLTRDSGAILDFWRILFKDYNLERYSRLHSILDGFPKDVDLNQSRKGRKPLAGPKAAVLPPRPPTKRKALEEPRATPPATLASKSVSSPGSHLKTKPPKKPDGNLESQHLPLGNGIQTMAASVQRAVTVASGDVPGTRGAVEGILIQQVFESGRSKKCIQVGGEFYTPNKFEDPSGNLKNKARSGSSLKPVVRAKGAQVTIPGRDEQKVGQQCGVPPLPSLPSEPQVNQKNEDECAVCHDGGELICCDGCPRAFHLACLSPPLQEIPSGLWRCSCCLQGRVQQNLSQPEVSRPPELPAETPILVGLRSASEKTRGPSRELKASSDAAVTYVNLLAPHPAAPLLEPSALCPLLSAGNEGRPGPAPSARCSVCGDGTEVLRCAHCAAAFHWRCHFPTAAARPGTNLRCKSCSADSTPTPGTPGEAVPTSGPRPAPGLAKVGDDSASHDPVLHRDDLESLLNEHSFDGILQWAIQSMSRPLAETPPFSS
Tissue specificity:Highly expressed in a few cells in the medulla of the thymus (medullary epithelial cells) (at protein level) (PubMed:23993652). Expressed in thymic but no peripheral B-cells (PubMed:26070482). 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) (PubMed:23993652). 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. {ECO:0000269|PubMed:23993652, ECO:0000269|PubMed:26070482}.
Induction:
Developmental stage:In the thymus, not expressed at 13.5 dpc but present at 16.5 dpc and postnatal day 1. {ECO:0000269|PubMed:19015306}.
Protein families: