The function of the protein encoded by this gene is not well defined, however it contains zinc finger motifs suggestive of a transcription factor. The protein (isoform 1) is localized to both the nucleus and cytoplasm. Three splice variant mRNAs products have been described [1]. The longer AIRE-1 mRNA appears to be more abundant and includes exons 1 through 14. Splice variant AIRE-2 includes a portion of the non-coding region of exon 1, an alternatively spliced longer exon 8, plus exons 9 through 14. Variant AIRE-3 includes the same exon 1-8-9 sequences as found in AIRE-2 but utilizes additional alternative splicing in exon 10 that shifts the reading frame such that a stop codon in exon 12 is utilized. Nagamine K., Nat. Genet. 17:393-398(1997).Aaltonen J., Nat. Genet. 17:399-403(1997).Hattori M., Nature 405:311-319(2000).
Host
Rabbit
Immunogen
Peptide sequence around phosphorylation site of Serine156 P-G-S(p)-Q-L) derived from Human AIRE.
Involvement In Disease
Autoimmune polyendocrine syndrome 1, with or without reversible metaphyseal dysplasia (APS1)
Raised In
Rabbit
Reactivity
Human
Regulatory
RUO
Relevance
The function of the protein encoded by this gene is not well defined, however it contains zinc finger motifs suggestive of a transcription factor. The protein (isoform 1) is localized to both the nucleus and cytoplasm. Three splice variant mRNAs products have been described [1]. The longer AIRE-1 mRNA appears to be more abundant and includes exons 1 through 14. Splice variant AIRE-2 includes a portion of the non-coding region of exon 1, an alternatively spliced longer exon 8, plus exons 9 through 14. Variant AIRE-3 includes the same exon 1-8-9 sequences as found in AIRE-2 but utilizes additional alternative splicing in exon 10 that shifts the reading frame such that a stop codon in exon 12 is utilized.
Nagamine K., Nat. Genet. 17:393-398(1997). Aaltonen J., Nat. Genet. 17:399-403(1997). Hattori M., Nature 405:311-319(2000).
Species
Homo Sapiens (Human)
Specificity
The antibody detects endogenous levels of AIRE only when phosphorylated at serine 156.
Transcription factor playing an essential role to promote self-tolerance in the thymus by regulating the expression of a wide array of self-antigens that have the commonality of being tissue-restricted in their expression pattern in the periphery, called tissue restricted antigens (TRA)
Pathway
Ubiquitin mediated proteolysis
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, expres
Buffer
Rabbit IgG in phosphate buffered saline (without Mg2+ and Ca2+), pH 7.4, 150mM NaCl, 0.02% sodium azide and 50% glycerol.
Form
Rabbit IgG in phosphate buffered saline (without Mg2+ and Ca2+), pH 7.4, 150mM NaCl, 0.02% sodium azide and 50% glycerol.
Format
liquid
Purification
Antibodies were produced by immunizing rabbits with synthetic phosphopeptide and KLH conjugates. Antibodies were purified by affinity-chromatography using epitope-specific phosphopeptide. Non-phospho specific antibodies were removed by chromatogramphy usi
Purity
Antibodies were produced by immunizing rabbits with synthetic phosphopeptide and KLH conjugates. Antibodies were purified by affinity-chromatography using epitope-specific phosphopeptide. Non-phospho specific antibodies were removed by chromatogramphy using non-phosphopeptide.
Storage
Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.