Autoimmune Regulator

Preferred Label : Autoimmune Regulator;

NCIt synonyms : APECED Protein; Autoimmune Polyendocrinopathy Candidiasis Ectodermal Dystrophy Protein; Autoimmune Regulator (APECED Protein); AIRE;

NCIt definition : Autoimmune regulator (545 aa, 58 kDa) is encoded by the human AIRE gene. This protein is involved in both the activation of gene transcription and the inhibition of autoimmunity.;

NCIt note : Autoimmune regulator binds to DNA as a dimer or a tetramer by associating with G-doublets in an A/T-rich environment; the preferred motif is a tandem repeat of 5'-. ATTGGTTA-3' combined with a 5'-TTATTA-3' box. (UniProt);

Details

Origin ID

C114321;

UMLS CUI

C1741275;

Automatic exact mappings (from CISMeF team)
- AIRE Protein [MeSH Descriptor]
- APECED protein [MeSH concept]
- APECED protein [MeSH Supplementary Concept]
- Area [LOINC component]
- Area [LOINC Property]
- Autoimmune regulator [OMIM gene]
- autoimmune regulator [ORDO Gene]
- autoimmune regulator [HGNC gene]
OMIM relation
- Autoimmune regulator [OMIM gene]
Semantic type(s)
- Amino Acid, Peptide, or Protein [UMLS semantic type]
- Biologically Active Substance [UMLS semantic type]
UMLS correspondences (same concept)
- AIRE protein, human [MeSH concept]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_encodes_gene_product
- AIRE Gene [NCIt concept]
- Regulatory Gene [NCIt concept]
- Transcription Factor Gene [NCIt concept]
- Transcription Regulation Gene [NCIt concept]
gene_product_has_associated_anatomy
- Nucleus [NCIt concept]
gene_product_has_biochemical_function
- DNA Binding Protein [NCIt concept]
gene_product_has_structural_domain_or_motif
- PHD Finger [NCIt concept]
gene_product_is_element_in_pathway
- Primary Immunodeficiency Pathway [NCIt concept]
- Ubiquitin-mediated Proteolysis Pathway [NCIt concept]
gene_product_plays_role_in_biological_process
- DNA Binding [NCIt concept]
- Immunologic Tolerance [NCIt concept]
- Transcriptional Activation [NCIt concept]
- Transcriptional Regulation [NCIt concept]

Keyword's position in hierarchy(ies) :

Main resources

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