AIRE Gene Summary [Human]
This gene encodes a transcriptional regulator that forms nuclear bodies and interacts with the transcriptional coactivator CREB binding protein. The encoded protein plays an important role in immunity by regulating the expression of autoantigens and negative selection of autoreactive T-cells in the thymus. Mutations in this gene cause the rare autosomal-recessive systemic autoimmune disease termed autoimmune polyendocrinopathy with candidiasis and ectodermal dystrophy (APECED). [provided by RefSeq, Jun 2012]
Details
| Type | Retained Intron |
| Official Symbol | AIRE |
| Official Name | autoimmune regulator [Source:HGNC Symbol;Acc:HGNC:360] |
| Ensembl ID | ENSG00000160224 |
| Bio databases IDs | |
| Aliases | autoimmune regulator, autoimmune polyendocrinopathy candidiasis ectodermal dystrophy |
| Synonyms | AIRE1, APECED, APS1, APSI, autoimmune regulator, PGA1 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human AIRE often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- PHD zinc finger
- histone binding
- transcription regulator
- nucleic acid binding
- chromatin binding
- protein binding
- sequence-specific DNA binding
- identical protein binding
- HSR domain
- zinc ion binding
- double-stranded DNA binding
- PHD finger superfamily
- SAND domain
Pathways
Biological processes and signaling networks where the AIRE gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- cancer
- polyglandular autoimmune syndrome type 1
- insulin-dependent diabetes mellitus
- neuropathy
- autoimmune disease
- rheumatoid arthritis
- lymphomagenesis
- hematologic cancer
- lymphoid cancer
- hematological neoplasia
role in cell
- expression in
- production in
- apoptosis
- proliferation
- quantity
- number
- function
- binding in
- migration
- abnormal morphology
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Nucleus
- Cytoplasm
- intracellular space
- microtubules
- granules
- nuclear foci
- nucleoplasm
- nuclear bodies
- nuclear matrix
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human AIRE gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- transcription from RNA polymerase II promoter
- regulation of transcription, DNA-dependent
- positive regulation of transcription from RNA polymerase II promoter
- regulation of translation
- immune response
- peripheral T cell tolerance induction
- positive regulation of transcription, DNA-dependent
- humoral immune response
- regulation of thymocyte migration
- central tolerance induction to self antigen
- positive regulation of chemokine production
- negative thymic T cell selection
Cellular Component
Where in the cell the gene product is active
- female germ cell nucleus
- nucleus
- nuclear body
- cytoplasm
- male germ cell nucleus
Molecular Function
What the gene product does at the molecular level
- translation regulator activity
- zinc ion binding
- identical protein binding
- protein binding
- histone binding
- RNA polymerase II regulatory region sequence-specific DNA binding
- chromatin binding