AIRE (autoimmune regulator)

Identity

Other names	AIRE1
	APECED
	APS1
	APSI
	PGA1
HGNC	AIRE
Location	21q22.3
Location_base_pair	Starts at 44530191 and ends at 44542530 bp from pter ( according to hg18-March_2006).
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

External links

	Nomenclature
HGNC	AIRE   360
Entrez_Gene	AIRE  326  autoimmune regulator
	Cards
GeneCards	AIRE
Ensembl	AIRE [Search_View]   ENSG00000160224 [Gene_View]
Genatlas	AIRE
GeneLynx	AIRE
eGenome	AIRE
euGene	326
	Genomic and cartography
GoldenPath	AIRE  -  21q22.3   chr21:44530191-44542530 +  21q22.3   [Description]    (hg18-March_2006)
Ensembl	AIRE - 21q22.3 [CytoView]
NCBI	Mapview
OMIM	Disease map [OMIM]
HomoloGene	AIRE
	Gene and transcription
Genbank	AB006682 [ ENTREZ ]
Genbank	AB006683 [ ENTREZ ]
Genbank	AB006685 [ ENTREZ ]
Genbank	AK309572 [ ENTREZ ]
Genbank	BC137268 [ ENTREZ ]
RefSeq	NM_000383 [ SRS ]    NM_000383 [ ENTREZ ]
RefSeq	NM_000658 [ SRS ]    NM_000658 [ ENTREZ ]
RefSeq	AC_000064 [ SRS ]    AC_000064 [ ENTREZ ]
RefSeq	AC_000153 [ SRS ]    AC_000153 [ ENTREZ ]
RefSeq	NC_000021 [ SRS ]    NC_000021 [ ENTREZ ]
RefSeq	NT_011515 [ SRS ]    NT_011515 [ ENTREZ ]
RefSeq	NW_001838716 [ SRS ]    NW_001838716 [ ENTREZ ]
RefSeq	NW_927384 [ SRS ]    NW_927384 [ ENTREZ ]
AceView	AIRE AceView - NCBI
Unigene	Hs.129829 [ SRS ]    Hs.129829 [ NCBI ]     HS129829 [ spliceNest ]
Fast-db	3941 (alternative variants)
	Protein : pattern, domain, 3D structure
SwissProt	O43918 [ SRS]    O43918 [ EXPASY ]     O43918 [ INTERPRO ]     O43918 [ UNIPROT ]
Prosite	PS50864 SAND [ SRS ]    PS50864 SAND [ Expasy ]
Prosite	PS01359 ZF_PHD_1 [ SRS ]    PS01359 ZF_PHD_1 [ Expasy ]
Prosite	PS50016 ZF_PHD_2 [ SRS ]    PS50016 ZF_PHD_2 [ Expasy ]
Interpro	IPR008087 AIRE [ SRS ]    IPR008087 AIRE [ EBI ]
Interpro	IPR000770 SAND [ SRS ]    IPR000770 SAND [ EBI ]
Interpro	IPR004865 Sp100 [ SRS ]    IPR004865 Sp100 [ EBI ]
Interpro	IPR001965 Znf_PHD [ SRS ]    IPR001965 Znf_PHD [ EBI ]
Interpro	IPR013083 Znf_RING/FYVE/PHD [ SRS ]    IPR013083 Znf_RING/FYVE/PHD [ EBI ]
CluSTr	O43918
Pfam	PF00628 PHD [ SRS ]    PF00628 PHD [ Sanger ]    pfam00628 [ NCBI-CDD ]
Pfam	PF01342 SAND [ SRS ]    PF01342 SAND [ Sanger ]    pfam01342 [ NCBI-CDD ]
Pfam	PF03172 Sp100 [ SRS ]    PF03172 Sp100 [ Sanger ]    pfam03172 [ NCBI-CDD ]
Smart	SM00249 PHD [EMBL]
Smart	SM00258 SAND [EMBL]
Blocks	O43918
PDB	1XWH [ SRS ]    1XWH [ PdbSum ],   1XWH [ IMB ]   1XWH [ RSDB ]
HPRD	06301
	Protein Interaction databases
DIP	O43918
IntAct	O43918
	Polymorphism : SNP, mutations, diseases
OMIM	240300;607358    [ map ]
GENECLINICS	240300;607358
SNP	AIRE [dbSNP-NCBI]
SNP	NM_000383 [SNP-NCI]
SNP	NM_000658 [SNP-NCI]
SNP	AIRE [GeneSNPs - Utah]  AIRE] [HGBASE - SRS]
HAPMAP	AIRE [HAPMAP]
HGMD	AIRE
	General knowledge
Family Browser	AIRE [UCSC Family Browser]
SOURCE	NM_000383
SOURCE	NM_000658
SMD	Hs.129829
SAGE	Hs.129829
GO	transcription factor activity [Amigo]  transcription factor activity
GO	protein binding [Amigo]  protein binding
GO	nucleus [Amigo]  nucleus
GO	cytoplasm [Amigo]  cytoplasm
GO	transcription [Amigo]  transcription
GO	regulation of transcription, DNA-dependent [Amigo]  regulation of transcription, DNA-dependent
GO	humoral immune response [Amigo]  humoral immune response
GO	zinc ion binding [Amigo]  zinc ion binding
GO	translation regulator activity [Amigo]  translation regulator activity
GO	metal ion binding [Amigo]  metal ion binding
PubGene	AIRE
TreeFam	AIRE
CTD	326 [Comparative ToxicoGenomics Database]
	Other databases
	Probes
Probe	AIRE Related clones (RZPD - Berlin)
	PubMed
PubMed	64 Pubmed reference(s) in Entrez

Genes in title	automatic search in PubMed
REVIEW articles	automatic search in PubMed
Last year publications	automatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written	09-2002	Dessen P, Le Minor S
Updated	03-2008	Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology

indexed on : Tue Oct 14 20:20:16 2008