Anti-AIRE antibody (AA24992)

$187.00


Alternative names Autoimmune regulator, Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy protein, APECED protein, AIRE, APECED, AIRE_HUMAN, O43918, 326
Source 545
Species Reactivity Human, Mouse, Rat
Applications IF/ICC, IHC, WB
Host Rabbit
Class Polyclonal
Conjugated Unconjugated


Description

Product name Anti-AIRE antibody (AA24992)
Catalog number AA24992
Brand family Ango
Product type Primary Antibody
Antibody Alternative Names Autoimmune regulator antibody, Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy protein antibody, APECED protein antibody, AIRE antibody, APECED antibody, AIRE_HUMAN antibody


Biological Information

Immunogen Synthetic peptide of human AIRE
Concentration 1 mg/ml
Isotype IgG
Application Notes WB 1:500 - 1:2000 IHC 1:50 - 1:200 IF 1:50 - 1:200
Purification method Purified by affinity chromatography


Target

Target Name AIRE
SwissProt ID Link O43918
Function Transcriptional regulator that binds to DNA as a dimer or as a tetramer, but not as a monomer. Binds to G-doublets in an A/T-rich environment; the preferred motif is a tandem repeat of 5'-. ATTGGTTA-3' combined with a 5'-TTATTA-3' box. Binds to nucleosomes. Binds to chromatin and interacts selectively with histone H3 that is not methylated at 'Lys-4', not phosphorylated at 'Thr-3' and not methylated at 'Arg-2'. Functions as a sensor of histone H3 modifications that are important for the epigenetic regulation of gene expression. Functions as a transcriptional activator and promotes the expression of otherwise tissue-specific self-antigens in the thymus, which is important for self tolerance and the avoidance of autoimmune reactions.
Subcellular Location Nucleus. Cytoplasm. Associated with tubular structures and in discrete nuclear dots resembling ND10 nuclear bodies. May shuttle between nucleus and cytoplasm.
Involvement in Disease Autoimmune polyendocrine syndrome 1, with or without reversible metaphyseal dysplasia: A rare disease characterized by the combination of chronic mucocutaneous candidiasis, hypoparathyroidism and Addison disease. Symptoms of mucocutaneous candidiasis manifest first, followed by hypotension or fatigue occurring as a result of Addison disease. APS1 is associated with other autoimmune disorders including diabetes mellitus, vitiligo, alopecia, hepatitis, pernicious anemia and primary hypothyroidism. The disease is caused by mutations affecting the gene represented in this entry. Most of the mutations alter the nucleus-cytoplasm distribution of AIRE and disturb its association with nuclear dots and cytoplasmic filaments. Most of the mutations also decrease transactivation of the protein. The HSR domain is responsible for the homomultimerization activity of AIRE. All the missense mutations of the HSR and the SAND domains decrease this activity, but those in other domains do not. The AIRE protein is present in soluble high-molecular-weight complexes. Mutations in the HSR domain and deletion of PHD zinc fingers disturb the formation of these complexes .
Post-Translational Modification Phosphorylated. Phosphorylation could trigger oligomerization.
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. Isoform 2 and isoform 3 seem to be less frequently expressed than isoform 1, if at all.
Subunit Structure Homodimer and homotetramer. Interacts with CREBBP. Interacts preferentially with histone H3 that is not methylated at 'Lys-4'. Binds with lower affinity to histone H3 that is monomethylated at 'Lys-4'. Trimethylation of histone H3 at 'Lys-4' or phosphorylation at 'Thr-3' abolish the interaction. Binds with lower affinity to histone H3 that is acetylated at 'Lys-4', or that is acetylated at 'Lys-9' or trimethylated at 'Lys-9'. Binds histone H3 that is dimethylated at 'Arg-2' with very low affinity.
Sequence Similarities Contains 1 HSR domain. Contains 2 PHD-type zinc fingers. Contains 1 SAND domain.


Poduct Presentation

Form Liquid
Preservative 0.02% (w/v) sodium azide
Storage buffer PBS with 50% glycerol, pH 7.3


Storage and Shipping Information

Storage Store at -20 or -80 C. Avoid multiple freeze/thaw cycles.