CIITA
Summary: This gene encodes a protein with an acidic transcriptional activation domain, 4 LRRs (leucine-rich repeats) and a GTP binding domain. The protein is located in the nucleus and acts as a positive regulator of class II major histocompatibility complex gene transcription, and is referred to as the 'master control factor' for the expression of these genes. The protein also binds GTP and uses GTP binding to facilitate its own transport into the nucleus. Once in the nucleus it does not bind DNA but rather uses an intrinsic acetyltransferase (AT) activity to act in a coactivator-like fashion. Mutations in this gene have been associated with bare lymphocyte syndrome type II (also known as hereditary MHC class II deficiency or HLA class II-deficient combined immunodeficiency), increased susceptibility to rheumatoid arthritis, multiple sclerosis, and possibly myocardial infarction. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2013].
Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
OMIM IDMIM:600005 Ensembl IDEnsembl:ENSG00000179583 HGNC IDHGNC:HGNC:7067 PHARMGKB IDPA30795 Map Location16p13.13 | |||||
GO terms in CIITA
Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| BP | IMP | GO:0000122 | negative regulation of transcription by RNA polymerase II |
| BP | IEA | GO:0006351 | transcription, DNA-templated |
| BP | TAS | GO:0006955 | immune response |
| BP | IEA | GO:0016310 | phosphorylation |
| BP | IC | GO:0032966 | negative regulation of collagen biosynthetic process |
| BP | IDA | GO:0034341 | response to interferon-gamma |
Gene expression in normal tissue: CIITA
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in CIITA
Database | Pathway ID | Pathway Des. |
|---|---|---|
| wikipathways | WP619 | Type II interferon signaling (IFNG) |
| kegg | hsa04612 | Antigen processing and presentation - Homo sapiens (human) |
| kegg | hsa05145 | Toxoplasmosis - Homo sapiens (human) |
| kegg | hsa05152 | Tuberculosis - Homo sapiens (human) |
| kegg | hsa05164 | Influenza A - Homo sapiens (human) |
| kegg | hsa05340 | Primary immunodeficiency - Homo sapiens (human) |
Gene-Drug: Aster Plot
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in CIITA
Model | Level | Reference ID | Tissue | Cancer | Drug | Clinical Response | Source | |
|---|---|---|---|---|---|---|---|---|
| No matching records found | ||||||||
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