Aire 11634

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Gene ID: 11634
Gene symbol: aire
Gene Description: autoimmune regulator (autoimmune polyendocrinopathy candidiasis ectodermal dystrophy)
Aliases: MGC123374; MGC123375
Human Ortholog Gene ID: [326]
Reviewer Judgement: TF Gene; TF Gene Candidate
Functional Classification: DNA-Binding: non-sequence-specific;

DNA-Binding: sequence-specific

DBD Protein Group Classification: Other Alpha-Helix Group
DBD Protein Group/Family Classification: Other Alpha-Helix Group / Sand Domain Family
Homolog Cluster(s): 11634; 246198

Evidence:

Pubmed ID Function Species Evidence Strength Reviewer's Comments Reviewer
[10748110] Transactivation Human Strong Paper: The Autoimmune Regulator Protein Has Transcriptional Transactivating Properties and Interacts with the Common Coactivator CREB-binding Protein

Transient transfection was conducted in COS-1 cells using pG5-CAT as reporter. AIRE can activate transcription from a pG5-CAT reporter gene. CBP interacts with AIRE protein in a yeast two-hybrid assay.

Debra Fulton
[15649436] DNA Binding Human Strong Paper: Mapping DNA-binding domains of the autoimmune regulator protein

Gel-shift experiments demonstrates that AIRE SAND domain binds DNA (affinity towards T containing motifs)

Debra Fulton
[10022980] DNA Binding Human Weak Sequence analysis shows conservation between human and mice and authors (in 1999) claim it is a "putative TF"

Genome Res. 1999 Feb;9(2):158-66.

The mouse Aire gene: comparative genomic sequencing, gene organization, and expression.

Blechschmidt K, Schweiger M, Wertz K, Poulson R, Christensen HM, Rosenthal A, Lehrach H, Yaspo ML.

Institute of Molecular Biotechnology, Department of Genome Analysis, D-07745 Jena, Germany.

Mutations in the human AIRE gene (hAIRE) result in the development of an autoimmune disease named APECED (autoimmune polyendocrinopathy candidiasis ectodermal dystrophy; OMIM 240300). Previously, we have cloned hAIRE and shown that it codes for a putative transcription-associated factor. Here we report the cloning and characterization of Aire, the murine ortholog of hAIRE. Comparative genomic sequencing revealed that the structure of the AIRE gene is highly conserved between human and mouse. The conceptual proteins share 73% homology and feature the same typical functional domains in both species. RT-PCR analysis detected three splice variant isoforms in various mouse tissues, and interestingly one isoform was conserved in human, suggesting potential biological relevance of this product. In situ hybridization on mouse and human histological sections showed that AIRE expression pattern was mainly restricted to a few cells in the thymus, calling for a tissue-specific function of the gene product.

Jared Roach
[10049735] DNA Binding Mouse Weak Sequence motifs are suggestive of a TF Jared Roach
[12376594] Transactivation Mouse Weak mutant mice showed differential expression Jared Roach
[10748110] Transactivation Human Medium Transactivates a reporter gene when fused to a heterologous DNA binding domain

Interacts with CBP in a GST-pulldown assay

Sarav Sundararajan
[11274163] Transactivation Human Strong Activates transcription of interferon-beta through a reporter assay Sarav Sundararajan
[11533054] DNA Binding Human Strong Shows in vitro DNA binding through gel shift assays and binding to a G2N7G2 oligonucleotide library Sarav Sundararajan
[10677297] Transactivation Human Strong Gal4-AIRE fusion protein activates transcription in transient transfection assays. Rob Sladek
[15649436] DNA Binding Human Strong The AIRE SAND domain binds DNA in EMSA/gel shift assays. Rob Sladek
Additional Reviewer Comments:
Reviewer: Jared Roach

There seems to be a trend in the literature to acknowledge this gene as a TF, but I could not find definitive evidence in support.

Reviewer: Debra Fulton

Aire is a transcription factor. AIRE can bind DNA (by gel-shift assay) and can activate transcription from a pG5-CAT reporter gene.


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Facts about Aire 11634RDF feed
Gene description autoimmune regulator (autoimmune polyendocrinopathy candidiasis ectodermal dystrophy)  +
Gene id 11,634  +
Gene judgment TF Gene  +, and TF Gene Candidate  +
Gene symbol aire  +, MGC123374  +, and MGC123375  +
Gene taxonomy DNA-Binding: non-sequence-specific  +, and DNA-Binding: sequence-specific  +
Homolog cluster 11,634  +, and 246,198  +
Protein family 4 Other Alpha-Helix Group/107 Sand Domain Family  +
Protein group 4 Other Alpha-Helix Group   +
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