Gene
aire
- ID
- ZDB-GENE-071008-4
- Name
- autoimmune regulator
- Symbol
- aire Nomenclature History
- Previous Names
-
- si:dkey-261l2.5
- Type
- protein_coding_gene
- Location
- Chr: 2 Mapping Details/Browsers
- Description
- Predicted to have RNA polymerase II regulatory region sequence-specific DNA binding activity; chromatin binding activity; and histone binding activity. Predicted to be involved in several processes, including immune system development; positive regulation of transcription by RNA polymerase II; and regulation of thymocyte migration. Predicted to localize to nucleus. Human ortholog(s) of this gene implicated in autoimmune polyendocrine syndrome and autoimmune polyendocrine syndrome type 1. Orthologous to human AIRE (autoimmune regulator).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- No data available
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| autoimmune polyendocrine syndrome type 1 | Alliance | Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia | 240300 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Conserved_site | IPR019786 | Zinc finger, PHD-type, conserved site |
| Domain | IPR000770 | SAND domain |
| Domain | IPR001965 | Zinc finger, PHD-type |
| Domain | IPR004865 | HSR domain |
| Domain | IPR019787 | Zinc finger, PHD-finger |
| Domain | IPR042580 | AIRE, PHD finger 2 |
| Family | IPR008087 | Autoimmune regulator, AIRE |
| Family | IPR043563 | Nuclear body protein Sp110/Sp140/Sp140L-like |
| Homologous_superfamily | IPR010919 | SAND-like domain superfamily |
| Homologous_superfamily | IPR011011 | Zinc finger, FYVE/PHD-type |
| Homologous_superfamily | IPR013083 | Zinc finger, RING/FYVE/PHD-type |
Domain Details Per Protein
| Protein | Length | AIRE, PHD finger 2 | Autoimmune regulator, AIRE | HSR domain | Nuclear body protein Sp110/Sp140/Sp140L-like | SAND domain | SAND-like domain superfamily | Zinc finger, FYVE/PHD-type | Zinc finger, PHD-finger | Zinc finger, PHD-type | Zinc finger, PHD-type, conserved site | Zinc finger, RING/FYVE/PHD-type |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
UniProtKB:A8HG42
|
511 | |||||||||||
|
UniProtKB:A0A8M3AQ73
|
490 |
Interactions and Pathways
No data available
Plasmids
No data available