Phospho-AIRE (Ser156) Antibody
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货号:CSB-PA217298
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规格:¥2454
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图片:
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其他:
产品详情
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产品名称:Rabbit anti-Homo sapiens (Human) AIRE Polyclonal antibody
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Uniprot No.:O43918
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基因名:
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宿主:Rabbit
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反应种属:Human
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免疫原:Peptide sequence around phosphorylation site of Serine156 P-G-S(p)-Q-L) derived from Human AIRE.
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免疫原种属:Homo sapiens (Human)
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克隆类型:Polyclonal
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纯化方式: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
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浓度:It differs from different batches. Please contact us to confirm it.
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产品提供形式:Liquid
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应用范围:ELISA,WB
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推荐稀释比:
Application Recommended Dilution WB 1:500-1:1000 -
Protocols:
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储存条件:Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.
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货期:Basically, we can dispatch the products out in 1-3 working days after receiving your orders. Delivery time maybe differs from different purchasing way or location, please kindly consult your local distributors for specific delivery time.
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靶点详情
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功能: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). 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 met...显示更多
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基因功能参考文献:
- this review shows the role of AIRE in peripheral tolerance PMID: 30255105
- AIRE contributes to autoimmunity in more common organ-specific autoimmune disorders than autoimmune polyendocrine syndrome type-1 (Review) PMID: 27504588
- Rs3761389 variant is associated with the susceptibility of myasthenia gravis in Chinese patients. PMID: 28262400
- Our findings suggest that AIRE does not have a role in the induction and function of monocyte-derived tolerogenic DC in humans, but these findings do not exclude a role for AIRE in peripheral tolerance mediated by other cell types. PMID: 26912174
- Estrogen induces decreased thymic AIRE expression by epigenetic modifications through increased number of methylation sites within the AIRE promoter.[review] PMID: 28240208
- Whole exome sequencing followed by Sanger sequencing revealed that all three subjects affected by hypoparathyroidism were compound heterozygous for two previously reported mutations, c.967_979delCTGTCCCCTCCGC:p.(L323SfsX51) and c.995+(3_5)delGAGinsTAT, in AIRE, which encodes the autoimmune regulator protein that is defective in autoimmune polyglandular syndrome type 1 (APS-1). PMID: 28323927
- Aire exerts multi-faceted autoimmune control that extends to a population of innate-like T cells. PMID: 27851927
- Homozygote Mutation in the AIRE gene is associated with APECED syndrome. PMID: 28222032
- the presence of AIRE can trigger molecular events leading to an altered chromatin landscape and the enhanced transcription of low-expressed genes PMID: 28242760
- These data are the first to identify AIRE expression in breast cancer and an association with prognosis. PMID: 27753538
- AIRE, which is phosphorylated on two specific residues near its N terminus, then binds to the F-box protein 3 (FBXO3) E3 ubiquitin ligase. In turn, this SCF(FBXO3) (SKP1-CUL1-F box) complex ubiquitylates AIRE, increases its binding to the positive transcription elongation factor b (P-TEFb), and potentiates its transcriptional activity. PMID: 27365398
- this paper shows that genetic polymorphisms in AIRE do not contribute to the Graves' disease in Spain PMID: 27266815
- This study supports the notion that AIRE mutation could specifically affect human insulin gene expression in thymic epithelial cells through INS-VNTR and subsequently induce either insulin tolerance or autoimmunity. PMID: 27048654
- androgen control of an intrathymic Aire-mediated tolerance mechanism contributes to gender differences in autoimmunity. PMID: 27072778
- results indicate that in females, estrogen induces epigenetic changes in the AIRE gene, leading to reduced AIRE expression under a threshold that increases female susceptibility to autoimmune diseases. PMID: 26999605
- The rs2075876 and rs760426 loci of the AIRE gene are associated with increased risk for rheumatoid arthritis among ethnic Han Chinese from ShaanXi. PMID: 27264825
- The novel mutation of c.622G>T (p.G208W) in AIRE gene is associated autoimmune polyendocrinopathy syndrome type I. PMID: 26903062
- AIRE-655GAIRE-230T haplotype could dramatically alter AIRE transcription. PMID: 25978041
- In the current study, we demonstrate that AIRE activates the expression of transiently transfected luciferase reporters that lack defined promoter regions, as well as intron and poly(A) signal sequences. PMID: 26607109
- These results suggest that Aire expression is inherent to all medullary thymic epithelial cells (mTECs) but may occur at particular stage(s) and/or cellular states during their differentiation, thus accounting for the broad impact of Aire on the promiscuous gene expression of mTECs. PMID: 26503950
- Keratopathy can be an early and severe manifestation of APS1, which contributes to the global prognosis of the disease. Its mechanisms remain to be elucidated. PMID: 26114819
- Molecular characterization of the functional domains of Aire has revealed multiple binding partners that assist Aire's function in altering gene transcription and chromatin remodeling. PMID: 26579596
- study identified a novel AIRE mutation which alters the intracellular location and transcription activity of AIRE, and has implications in the pathogenesis of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy PMID: 25064028
- genetic polymorphism is associated with development and progression of rheumatoid arthritis in China PMID: 25637666
- Data indicate that autoimmune regulator Aire mRNA transcripts are regulated in a keratin 17 (K17) dependent manner in skin tumor keratinocytes. PMID: 26168014
- The study reports a new homozygous splicing mutation in the AIRE intron 5 acceptor (c.653-1G>A, in two patients of a consanguineous Spanish family with different phenotypes of autoimmune polyendocrine syndrome type 1. PMID: 24988226
- disease-causing mutations are more common than previously appreciated and cause more variable autoimmune phenotypes PMID: 26084028
- Deficiency of AIRE partner, PRKDC, can present as an inflammatory disease with organ-specific autoimmunity, suggesting a role for PRKDC in regulating autoimmune responses and maintaining AIRE-dependent tolerance in human subjects. PMID: 25842288
- The disease is caused by a homozygous mutation in the AIRE gene mapped to chromosome 21q22.1. PMID: 25367057
- Our findings suggest that the AIRE gene is associated with susceptibility to rheumatoid arthritis in the Spanish population PMID: 23320549
- a model in which lysines acetylation increases the stability of AIRE in the nucleus. PMID: 25158603
- Mutations in the AIRE gene is associated with polyglandular autoimmune syndrome type I. PMID: 24945421
- APECED was confirmed by molecular analysis of AIRE gene, which showed two mutations. PMID: 24703644
- The findings provide strong evidence for the fundamental role of AIRE and promiscuous gene expression, namely, central tolerance, in the predisposition to autoimmunity of Down syndrome individuals. PMID: 25217160
- the increased AIRE gene dose in DS could contribute to an autoimmune phenotype through multiple AIRE-mediated effects on homeostasis and function of thymic epithelial cells that affect thymic selection processes. PMID: 25038256
- AIRE rs2075876 and rs760426 polymorphisms were involved in the genetic background of rheumatoid arthritis in the Chinese population. PMID: 24170308
- these findings implicate AIRE in the promiscuous expression of thyroid proteins in fibrocytes. PMID: 24708100
- We demonstrated the importance of Aire's interaction with the ATF7ip-MBD1 protein complex in maintaining central tolerance PMID: 24464130
- Studies indicate that the plant homeodomain 2(PHD2) of autoimmune regulator (AIRE) protein plays a critical role in the activation of gene transcription. PMID: 24275490
- Eight patients were identified with APECED and all patients were found to be homozygous for the c.964dell3 mutation. A wide clinical variation is apparent within APECED syndrome. PMID: 23620608
- in patients with autoimmune non-APECED polyendocrinopathies, heterozygous mutations of the AIRE gene were not detected; however a trend of association was observed, heterozygous polymorphisms S278R and IVS9+6G>A were detected in patients without statistically significant prevalence than in controls PMID: 23643663
- it was concluded that miR-220b inhibited the AIRE gene translation through the 3'UTR region of AIRE gene, indicating that miR-220b could serve as a regulator for human AIRE gene translation. PMID: 23954874
- There are a limited number of cases linking autoimmune retinopathy with a mutation in the AIRE gene. PMID: 23697860
- These findings reveal a mutual interdependence of miRNA and Aire in the regulation of promiscuous gene expression in purified mouse and human thymic epithelial cells PMID: 23589212
- functional characterization of the alternatively spliced AIRE mutation that may explain the pathogenetic role in APS-1 PMID: 23342054
- Alterations of the autoimmune regulator transcription factor and failure of central tolerance: APECED as a model. PMID: 23256763
- AIRE gene mutations are associated with autoimmune-polyendocrinopathy-candidiasis-ectodermal-dystrophy in patients from Apulia and Sicily. PMID: 22104652
- [review] The C terminus of AIRE does not share obvious homology with functional domains in other proteins but is highly conserved between human and mouse AIRE proteins, serving as a transcriptional activation domain. PMID: 23456700
- Data indicate that PHD2 domain is required for Aire to interact with a subset of its partners PMID: 23319629
- Mutations in heterozygosity of the AIRE gene are not associated with major findings of autoimmune polyendocrinopathy candidiasis-ectodermal-dystrophy (APECED), also known as autoimmune polyendocrine syndrome type 1. PMID: 22024611
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相关疾病:Autoimmune polyendocrine syndrome 1, with or without reversible metaphyseal dysplasia (APS1)
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亚细胞定位:Nucleus. Cytoplasm.
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组织特异性: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
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数据库链接:
HGNC: 360
OMIM: 109100
KEGG: hsa:326
STRING: 9606.ENSP00000291582
UniGene: Hs.129829