loading...| Preferred Name |
Autoimmune Regulator |
|
| Synonyms |
Autoimmune Regulator APECED Protein Autoimmune Regulator (APECED Protein) Autoimmune Polyendocrinopathy Candidiasis Ectodermal Dystrophy Protein AIRE |
|
| Definitions |
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. |
|
| ID |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C114321 |
|
| code |
C114321 |
|
| Concept_In_Subset |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C142799 |
|
| Contributing_Source |
CTRP |
|
| 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. |
|
| DesignNote |
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) |
|
| Display_Name |
Autoimmune Regulator |
|
| FULL_SYN |
Autoimmune Regulator APECED Protein Autoimmune Regulator (APECED Protein) Autoimmune Polyendocrinopathy Candidiasis Ectodermal Dystrophy Protein AIRE |
|
| label |
Autoimmune Regulator |
|
| OMIM_Number |
607358 |
|
| Preferred_Name |
Autoimmune Regulator |
|
| prefixIRI |
Thesaurus:C114321 |
|
| Semantic_Type |
Amino Acid, Peptide, or Protein |
|
| Swiss_Prot |
O43918 |
|
| UMLS_CUI |
C1741275 |
|
| subClassOf |
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://purl.obolibrary.org/obo/NCIT_C114321 | BERO | LOOM | |
| http://purl.obolibrary.org/obo/PR_000001323 | PR | LOOM | |
| http://purl.obolibrary.org/obo/PR_000001323 | NIFSTD | LOOM | |
| http://purl.bioontology.org/ontology/OMIM/607358 | OMIM | LOOM | |
| http://www.orpha.net/ORDO/Orphanet_119562 | ORDO | LOOM | |
| http://www.limics.org/hrdo/rdfns#gen_id_15481 | HRDO | LOOM |