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 transcription 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
Expression
All Expression Data
No data available
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
Wild Type Expression Summary
Phenotype
All Phenotype Data
No data available
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With aire Human Ortholog
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
Associated With aire Via Experimental Models
No data available
Gene Ontology
Protein Domains
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
Homologous_superfamily IPR010919 SAND-like domain superfamily
Homologous_superfamily IPR011011 Zinc finger, FYVE/PHD-type
Homologous_superfamily IPR013083 Zinc finger, RING/FYVE/PHD-type
Homologous_superfamily IPR036427 Bromodomain-like superfamily
Domain Details Per Protein
Protein Length AIRE, PHD finger 2 Autoimmune regulator, AIRE Bromodomain-like superfamily HSR domain 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:B8A5S8 511
UniProtKB:A8HG42 511
UniProtKB:F1QIV0 93
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Citations