Atlas of Genetics and Cytogenetics in Oncology and Haematology


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AIRE (autoimmune regulator)

Identity

Other namesAIRE1
APECED
APS1
APSI
PGA1
HGNC (Hugo) AIRE
LocusID (NCBI) 326
Location 21q22.3
Location_base_pair Starts at 45705721 and ends at 45718102 bp from pter ( according to hg19-Feb_2009)
Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 

External links

Nomenclature
HGNC (Hugo)AIRE   360
Cards
Entrez_Gene (NCBI)AIRE  326  autoimmune regulator
GeneCards (Weizmann)AIRE
Ensembl (Hinxton)ENSG00000160224 [Gene_View]  chr21:45705721-45718102 [Contig_View]  AIRE [Vega]
AceView (NCBI)AIRE
Genatlas (Paris)AIRE
WikiGenes326
SOURCE (Princeton)NM_000383 NM_000658 NM_000659
Genomic and cartography
GoldenPath (UCSC)AIRE  -  21q22.3   chr21:45705721-45718102 +  21q22.3   [Description]    (hg19-Feb_2009)
EnsemblAIRE - 21q22.3 [CytoView]
Mapping of homologs : NCBIAIRE [Mapview]
OMIM240300   607358   
Gene and transcription
Genbank (Entrez)AB006682 AB006683 AB006685 AK309572 BC137268
RefSeq transcript (Entrez)NM_000383 NM_000658 NM_000659
RefSeq genomic (Entrez)AC_000153 NC_000021 NC_018932 NG_009556 NT_011515 NW_001838716 NW_004929427
Consensus coding sequences : CCDS (NCBI)AIRE
Cluster EST : UnigeneHs.129829 [ NCBI ]
CGAP (NCI)Hs.129829
Alternative Splicing : Fast-db (Paris)GSHG0019533
Alternative Splicing GalleryENSG00000160224
Gene ExpressionAIRE [ NCBI-GEO ]     AIRE [ SEEK ]   AIRE [ MEM ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtO43918 (Uniprot)
NextProtO43918  [Medical]
With graphics : InterProO43918
Splice isoforms : SwissVarO43918 (Swissvar)
Domaine pattern : Prosite (Expaxy)HSR (PS51414)    SAND (PS50864)    ZF_PHD_1 (PS01359)    ZF_PHD_2 (PS50016)   
Domains : Interpro (EBI)AIRE    SAND_dom    SAND_dom-like    Sp100    Zinc_finger_PHD-type_CS    Znf_FYVE_PHD    Znf_PHD    Znf_PHD-finger    Znf_RING/FYVE/PHD   
Related proteins : CluSTrO43918
Domain families : Pfam (Sanger)PHD (PF00628)    SAND (PF01342)    Sp100 (PF03172)   
Domain families : Pfam (NCBI)pfam00628    pfam01342    pfam03172   
Domain families : Smart (EMBL)PHD (SM00249)  SAND (SM00258)  
DMDM Disease mutations326
Blocks (Seattle)O43918
PDB (SRS)1XWH    2KE1    2KFT    2LRI   
PDB (PDBSum)1XWH    2KE1    2KFT    2LRI   
PDB (IMB)1XWH    2KE1    2KFT    2LRI   
PDB (RSDB)1XWH    2KE1    2KFT    2LRI   
Human Protein AtlasENSG00000160224
Peptide AtlasO43918
HPRD06301
IPIIPI00015149   IPI00480202   IPI00031178   IPI00031188   
Protein Interaction databases
DIP (DOE-UCLA)O43918
IntAct (EBI)O43918
FunCoupENSG00000160224
BioGRIDAIRE
InParanoidO43918
Interologous Interaction database O43918
IntegromeDBAIRE
STRING (EMBL)AIRE
Ontologies - Pathways
Ontology : AmiGOchromatin binding  protein binding  nucleus  nucleus  nucleolus  cytoplasm  plasma membrane  transcription, DNA-templated  regulation of transcription, DNA-dependent  immune response  humoral immune response  zinc ion binding  actin cytoskeleton  histone binding  identical protein binding  transcription regulatory region DNA binding  translation regulator activity  positive regulation of transcription, DNA-dependent  positive regulation of transcription from RNA polymerase II promoter  
Ontology : EGO-EBIchromatin binding  protein binding  nucleus  nucleus  nucleolus  cytoplasm  plasma membrane  transcription, DNA-templated  regulation of transcription, DNA-dependent  immune response  humoral immune response  zinc ion binding  actin cytoskeleton  histone binding  identical protein binding  transcription regulatory region DNA binding  translation regulator activity  positive regulation of transcription, DNA-dependent  positive regulation of transcription from RNA polymerase II promoter  
Pathways : KEGGUbiquitin mediated proteolysis    Primary immunodeficiency   
REACTOMEAIRE
Protein Interaction DatabaseAIRE
Wikipedia pathwaysAIRE
Gene fusion - rearrangments
Polymorphisms : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)AIRE
SNP (GeneSNP Utah)AIRE
SNP : HGBaseAIRE
Genetic variants : HAPMAPAIRE
1000_GenomesAIRE 
ICGC programENSG00000160224 
Somatic Mutations in Cancer : COSMICAIRE 
CONAN: Copy Number AnalysisAIRE 
Mutations and Diseases : HGMDAIRE
OMIM240300    607358   
GENETestsAIRE
Disease Genetic AssociationAIRE
Huge Navigator AIRE [HugePedia]  AIRE [HugeCancerGEM]
Genomic VariantsAIRE  AIRE [DGVbeta]
Exome VariantAIRE
dbVarAIRE
ClinVarAIRE
snp3D : Map Gene to Disease326
General knowledge
Homologs : HomoloGeneAIRE
Homology/Alignments : Family Browser (UCSC)AIRE
Phylogenetic Trees/Animal Genes : TreeFamAIRE
Chemical/Protein Interactions : CTD326
Chemical/Pharm GKB GenePA24654
Clinical trialAIRE
Cancer Resource (Charite)ENSG00000160224
Other databases
Probes
Litterature
PubMed131 Pubmed reference(s) in Entrez
CoreMineAIRE
iHOPAIRE
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated12-2013Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Fri Apr 18 16:51:56 CEST 2014

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