• Gene id: 326

Gene Summary

• Gene Symbol: AIRE   Gene   UCSC   Ensembl
• Aliases: AIRE1, APECED, APS1, APSI, PGA1
• Gene name: autoimmune regulator
• Alternate names: autoimmune regulator, autoimmune polyendocrinopathy candidiasis ectodermal dystrophy protein,
• Gene location: 21q22.3 (44285875: 44298647)     Exons: 14     NC_000021.9
• Gene summary(Entrez): 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 negat
• OMIM: 607358

SNPs

rs7588620

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000002.12   g.227534764T>A
NC_000002.12   g.227534764T>C
NC_000002.11   g.228399480T>A
NC_000002.11   g.228399480T>C|SEQ=[T/A/C]|GENE=AGFG1

rs13426422

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000002.12   g.227485023T>G
NC_000002.11   g.228349739T>G|SEQ=[T/G]|GENE=AGFG1

rs13382948

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000002.12   g.227554241A>G
NC_000002.11   g.228418957A>G|SEQ=[A/G]|GENE=AGFG1

Protein Summary

• Protein general information: O43918  
  • Name: Autoimmune regulator (Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy protein) (APECED protein)
  • Length: 545  
  • Mass: 57727
  • Tissue specificity: Widely expressed. Expressed at higher level in thymus (medullary epithelial cells and monocyte-dendritic cells), pancreas, adrenal cortex and testis. Expressed at lower level in the spleen, fetal liver and lymph nodes. In secondary lym
• Sequence:

  MATDAALRRLLRLHRTEIAVAVDSAFPLLHALADHDVVPEDKFQETLHLKEKEGCPQAFHALLSWLLTQDSTAIL
  DFWRVLFKDYNLERYGRLQPILDSFPKDVDLSQPRKGRKPPAVPKALVPPPRLPTKRKASEEARAAAPAALTPRG
  TASPGSQLKAKPPKKPESSAEQQRLPLGNGIQTMSASVQRAVAMSSGDVPGARGAVEGILIQQVFESGGSKKCIQ
  VGGEFYTPSKFEDSGSGKNKARSSSGPKPLVRAKGAQGAAPGGGEARLGQQGSVPAPLALPSDPQLHQKNEDECA
  VCRDGGELICCDGCPRAFHLACLSPPLREIPSGTWRCSSCLQATVQEVQPRAEEPRPQEPPVETPLPPGLRSAGE
  EVRGPPGEPLAGMDTTLVYKHLPAPPSAAPLPGLDSSALHPLLCVGPEGQQNLAPGARCGVCGDGTDVLRCTHCA
  AAFHWRCHFPAGTSRPGTGLRCRSCSGDVTPAPVEGVLAPSPARLAPGPAKDDTASHEPALHRDDLESLLSEHTF
  DGILQWAIQSMARPAAPFPS

• Structural information:
  • Protein Domains: (1..10-)
    (/note="HSR-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00747-)
    (181..28-)
    (/note="SAND-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00185"-)
  • Interpro: IPR008087  IPR042580  IPR004865  IPR010919  IPR000770   IPR019786  IPR011011  IPR001965  IPR019787  IPR013083  
  • Prosite: PS51414 PS50864 PS01359 PS50016
  • CDD: cd15540
  • PDB: 1XWH 2KE1 2KFT 2LRI
  • PDBsum: 1XWH 2KE1 2KFT 2LRI
  • DIP: 47504
  • STRING: ENSP00000291582
• Other Databases: GeneCards:  AIRE  Malacards:  AIRE

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0045944	positive regulation of transcription by RNA polymerase II	IMP	biological process
GO:0001228	DNA-binding transcription activator activity, RNA polymerase II-specific	IMP	molecular function
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISM	molecular function
GO:0000977	RNA polymerase II transcription regulatory region sequence-specific DNA binding	IDA	molecular function
GO:0000976	transcription regulatory region sequence-specific DNA binding	IBA	molecular function
GO:0002458	peripheral T cell tolerance induction	IBA	biological process
GO:0002509	central tolerance induction to self antigen	IBA	biological process
GO:0003682	chromatin binding	IBA	molecular function
GO:0006959	humoral immune response	IBA	biological process
GO:0042393	histone binding	IBA	molecular function
GO:0000977	RNA polymerase II transcription regulatory region sequence-specific DNA binding	IBA	molecular function
GO:0005634	nucleus	IBA	cellular component
GO:0032602	chemokine production	IBA	biological process
GO:0045060	negative thymic T cell selection	IBA	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IBA	biological process
GO:0097536	thymus epithelium morphogenesis	IBA	biological process
GO:2000410	regulation of thymocyte migration	IBA	biological process
GO:0002458	peripheral T cell tolerance induction	ISS	biological process
GO:0002509	central tolerance induction to self antigen	IMP	biological process
GO:0045893	positive regulation of transcription, DNA-templated	IMP	biological process
GO:2000410	regulation of thymocyte migration	ISS	biological process
GO:0032602	chemokine production	ISS	biological process
GO:0097536	thymus epithelium morphogenesis	ISS	biological process
GO:0016604	nuclear body	ISS	cellular component
GO:0006959	humoral immune response	IEA	biological process
GO:0003677	DNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0045182	translation regulator activity	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	TAS	cellular component
GO:0006955	immune response	TAS	biological process
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0006959	humoral immune response	IEA	biological process
GO:0002458	peripheral T cell tolerance induction	IEA	biological process
GO:2000410	regulation of thymocyte migration	IEA	biological process
GO:0097536	thymus epithelium morphogenesis	IEA	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IEA	biological process
GO:0045060	negative thymic T cell selection	IEA	biological process
GO:0042802	identical protein binding	IEA	molecular function
GO:0032602	chemokine production	IEA	biological process
GO:0016604	nuclear body	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0006417	regulation of translation	IEA	biological process
GO:0045893	positive regulation of transcription, DNA-templated	IDA	biological process
GO:0000976	transcription regulatory region sequence-specific DNA binding	IDA	molecular function
GO:0042393	histone binding	IDA	molecular function
GO:0008270	zinc ion binding	IDA	molecular function
GO:0042393	histone binding	IDA	molecular function
GO:0003682	chromatin binding	IDA	molecular function
GO:0006355	regulation of transcription, DNA-templated	IDA	biological process
GO:0005634	nucleus	NAS	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04120	Ubiquitin mediated proteolysis
hsa05340	Primary immunodeficiency

Diseases

Associated diseases	References
Other well-defined immunodeficiency syndromes	KEGG:H00107
Autoimmune polyendocrinopathy syndrome type 1	KEGG:H01972
Other well-defined immunodeficiency syndromes	KEGG:H00107
Autoimmune polyendocrinopathy syndrome type 1	KEGG:H01972
autoimmune polyendocrine syndrome	PMID:9921903
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray