InnateDB: Systems Biology of the Innate Immune Response

Mus musculus Protein: Aire

Summary

InnateDB Protein

IDBP-533992.3

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

Aire

Protein Name

autoimmune regulator (autoimmune polyendocrinopathy candidiasis ectodermal dystrophy)

Synonyms

Species

Mus musculus

Ensembl Protein

ENSMUSP00000120150

InnateDB Gene

IDBG-168233 (Aire)

Protein Structure

UniProt Annotation

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 (By similarity). {ECO:0000250}.

Subcellular Localization

Nucleus {ECO:0000255PROSITE- ProRule:PRU00185, ECO:0000255PROSITE-ProRule:PRU00747, ECO:0000269PubMed:11156688}. Cytoplasm {ECO:0000269PubMed:11156688}. Note=Predominantly nuclear but also cytoplasmic. Found in nuclear body-like structures and in a filamentous vimentin-like pattern.

Disease Associations

Tissue Specificity

Expression may be restricted to a small number of scattered cells in most tissues. Highly expressed in a few cells in the medulla of the thymus. 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.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 9 experimentally validated interaction(s) in this database.
They are also associated with 54 interaction(s) predicted by orthology.

Experimentally validated
Total	9 [view]
Protein-Protein	3 [view]
Protein-DNA	6 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	54 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003677	DNA binding
GO:0003682	chromatin binding
GO:0005515	protein binding
GO:0008270	zinc ion binding
GO:0042393	histone binding
GO:0042802	identical protein binding
GO:0044212	transcription regulatory region DNA binding
GO:0045182	translation regulator activity

Biological Process

GO:0006351	transcription, DNA-templated
GO:0006417	regulation of translation
GO:0006959	humoral immune response
GO:0045087	innate immune response (InnateDB)
GO:0045893	positive regulation of transcription, DNA-templated
GO:0045944	positive regulation of transcription from RNA polymerase II promoter

Cellular Component

GO:0005622	intracellular
GO:0005634	nucleus
GO:0005737	cytoplasm
GO:0005886	plasma membrane
GO:0015629	actin cytoskeleton

Protein Structure and Domains

PDB ID

MGI:1338803

InterPro

IPR000770 SAND domain
IPR001965 Zinc finger, PHD-type
IPR004865 Sp100
IPR008087 Autoimmune regulator, AIRE
IPR010919 SAND domain-like
IPR011011 Zinc finger, FYVE/PHD-type
IPR019787 Zinc finger, PHD-finger

PFAM

PF01342
PF03172
PF00628

PRINTS

PR01711

PIRSF

SMART

SM00258
SM00249

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt