AIRE - autoimmune regulator Gene
Also Known as APS1; APSI; PGA1; AIRE1; APECED
Species: Homo sapiens
About AIRE
This gene has 5 transcripts (splice variants), 175 orthologues, 5 paralogues and is associated with 4 phenotypes. Low expression observed in reference dataset.
Summary
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 negative selection of autoreactive T-cells in the thymus. Mutations in this gene cause the rare autosomal-recessive systemic autoimmune disease termed autoimmune polyendocrinopathy with candidiasis and ectodermal dystrophy (APECED). [provided by RefSeq, Jun 2012]
AIRE Products (1)
| mRNA | Protein | Name |
|---|---|---|
| NM_000383.4 | NP_000374.1 | autoimmune regulator |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables RNA polymerase II transcription regulatory region sequence-specific DNA binding |
IDA
IDA: Inferred from direct assay
|
11533054 | GOA |
| enables chromatin binding |
IDA
IDA: Inferred from direct assay
|
18292755 | GOA |
| enables histone binding |
IDA
IDA: Inferred from direct assay
|
18292755 | GOA |
| enables identical protein binding |
IPI
IPI: Inferred from physical interaction
|
15712268 | GOA |
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
17474147 | GOA |
| enables zinc ion binding |
IDA
IDA: Inferred from direct assay
|
19446523 | GOA |
| Biological Process GO Annotation | Evidence | References | Source |
|---|---|---|---|
| involved in central tolerance induction to self antigen |
IMP
IMP: Inferred from mutant phenotype
|
26084028 | GOA |
| involved in positive regulation of DNA-templated transcription |
IDA
IDA: Inferred from direct assay
|
18292755 | GOA |
| involved in positive regulation of DNA-templated transcription |
IMP
IMP: Inferred from mutant phenotype
|
26084028 | GOA |
| involved in positive regulation of transcription by RNA polymerase II |
IMP
IMP: Inferred from mutant phenotype
|
11274163 | GOA |
| involved in regulation of DNA-templated transcription |
IDA
IDA: Inferred from direct assay
|
18292755 | GOA |
AIRE Protein Structure
HSR: HSR domain (3 - 104)
SAND: SAND domain (190 - 247)
PHD: PHD-finger (299 - 341)
- 0
- 100
- 200
- 300
- 400
- 500
- 545 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
autoimmune regulator |
|
AIRE Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | References |
|---|---|---|---|---|---|---|---|
|
Intra
|
AIRE | O43918 | DAXX | Homo sapiens | Q9UER7 | 20185822 | |
|
Intra
|
AIRE | O43918 | H3C1 | Homo sapiens | P68431 | 18292755 | |
|
Intra
|
AIRE | O43918 | H3C1 | Homo sapiens | P68431 | 18292755 | |
|
Intra
|
AIRE | O43918 | AIRE | Homo sapiens | O43918 | 20185822 | |
|
Intra
|
AIRE | O43918 | AIRE | Homo sapiens | O43918 | 28540407 | |
|
Intra
|
AIRE | O43918 | AIRE | Homo sapiens | O43918 | 15712268 | |
|
Intra
|
AIRE | O43918 | H3C1 | Homo sapiens | P68431 | 18292755 | |
|
Intra
|
AIRE | O43918 | H3C1 | Homo sapiens | P68431 | 18292755 | |
|
Intra
|
AIRE | O43918 | DAXX | Homo sapiens | Q9UER7 | 20185822 |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
|
| Autoimmune Polyendocrine Syndrome Type 1 |
|
|
| Hypoparathyroidism, Familial Isolated, 1 |
|
|
| Candidiasis |
|
|
| Autoimmune Polyendocrine Syndrome |
|
|
| Polyendocrinopathy |
|
|
| Hypoparathyroidism |
|
|
| Autoimmune Disease |
|
|
| Alopecia Areata |
|
|
| Alopecia |
|
|
| Chronic Mucocutaneous Candidiasis |
|
|
| Autoimmune Hepatitis |
|
|
| Hypoadrenocorticism, Familial |
|
|
| Pernicious Anemia |
|
|
| Systemic Autoimmune Disease |
|
|
| Metaphyseal Dysplasia |
|
|
| Thymoma |
|
|
| Omenn Syndrome |
|
|
| Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1 |
|
|
| Myasthenia Gravis |
|
|
| Wissler-Fanconi Syndrome |
|
|
| Opportunistic Mycosis |
|
|
| Adrenal Cortical Hypofunction |
|
|
| Hypothyroidism |
|
|
| Ectodermal Dysplasia |
|
|
| Dendritic Cell Thymoma |
|
|
| Nail Disease |
|
|
| Fungal Infectious Disease |
|
|
| Cutaneous Candidiasis |
|
|
| Graves' Disease |
|
|
| Thyroiditis |
|
|
| Adrenal Cortex Disease |
|
|
| Autoimmune Disease Of Endocrine System |
|
|
| Alopecia Universalis Congenita |
|
|
| Cortical Thymoma |
|
|
| Autoimmune Polyendocrine Syndrome, Type Ii |
|
|
| Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
|
| Thymic Dysplasia |
|
|
| Diabetes Mellitus |
|
|
| Blepharophimosis |
|
|
| Thymus Squamous Cell Carcinoma |
|
|
| Focal Chorioretinitis |
|
|
| Predominantly Cortical Thymoma |
|
|
| Hashimoto Thyroiditis |
|
|
| Autoimmune Peripheral Neuropathy |
|
|
| Keratoconjunctivitis |
|
|
| Epithelial Malignant Thymoma |
|
|
| Parathyroid Gland Disease |
|
|
| Thymus Gland Disease |
|
|
| Angular Cheilitis |
|
|
| Hair Disease |
|
|
| Slate Pneumoconiosis |
|
|
| Autoimmune Gastritis |
|
|
| Thymus Cancer |
|
|
| Esophageal Candidiasis |
|
|
| Diarrhea 4, Malabsorptive, Congenital |
|
|
| Keratopathy |
|
|
| Oral Candidiasis |
|
|
| Granulomatous Orchitis |
|
|
| Amyotrophic Lateral Sclerosis 9 |
|
|
| Familial Isolated Hypoparathyroidism |
|
|
| Down Syndrome |
|
|
| Type 1 Diabetes Mellitus 2 |
|
|
| Cholangitis, Primary Sclerosing |
|
|
| Adrenal Gland Disease |
|
|
| Pure Red-Cell Aplasia |
|
|
| Type 1 Diabetes Mellitus |
|
|
| Immunodeficiency 58 |
|
|
| Premature Menopause |
|
|
| Mediastinum Sarcoma |
|
|
| Hyper Ige Syndrome |
|
|
| T-Cell Immunodeficiency With Thymic Aplasia |
|
|
| Combined Immunodeficiency |
|
|
| Primary Biliary Cholangitis |
|
|
| Autoimmune Lymphoproliferative Syndrome |
|
|
| Immune Deficiency Disease |
|
|
| Celiac Disease 1 |
|
|
| Skin Disease |
|
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Macaca mulatta | AIRE | VGNC | VGNC:69760 |
| Mus musculus | AIRE | MGD | MGI:1338803 |
| Bos taurus | AIRE | VGNC | VGNC:53512 |
| Canis familiaris | AIRE | VGNC | VGNC:37743 |
| Rattus norvegicus | AIRE | RGD | RGD:1311139 |
| Felis catus | AIRE | VGNC | VGNC:59704 |
| Others | AIRE | NCBI |