| Tbio | MHC class II transactivator |
Essential for transcriptional activity of the HLA class II promoter; activation is via the proximal promoter. No DNA binding of in vitro translated CIITA was detected. May act in a coactivator-like fashion through protein-protein interactions by contacting factors binding to the proximal MHC class II promoter, to elements of the transcription machinery, or both. Alternatively it may activate HLA class II transcription by modifying proteins that bind to the MHC class II promoter. Also mediates enhanced MHC class I transcription; the promoter element requirements for CIITA-mediated transcription are distinct from those of constitutive MHC class I transcription, and CIITA can functionally replace TAF1 at these genes. Exhibits intrinsic GTP-stimulated acetyltransferase activity. Exhibits serine/threonine protein kinase activity: can phosphorylate the TFIID component TAF7, the RAP74 subunit of the general transcription factor TFIIF, histone H2B at 'Ser-37' and other histones (in vitro).
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]
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]
Comments
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Addison Disease | 18 | 0.0 | 0.0 |
| Arthritis, Rheumatoid | 174 | 0.0 | 0.0 |
| Bare lymphocyte syndrome 2 | 4 | 0.0 | 0.0 |
| Disease | Target Count | P-value |
|---|---|---|
| ovarian cancer | 8520 | 4.8e-08 |
| osteosarcoma | 7950 | 1.6e-07 |
| tuberculosis | 2010 | 1.6e-04 |
| breast carcinoma | 1638 | 3.1e-04 |
| lung cancer | 4740 | 6.4e-04 |
| interstitial cystitis | 2312 | 6.6e-04 |
| psoriasis | 6694 | 5.3e-03 |
| primary Sjogren syndrome | 735 | 5.4e-03 |
| active Crohn's disease | 922 | 7.0e-03 |
| active ulcerative colitis | 764 | 4.6e-02 |
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| ulcerative colitis | 1819 | 0.0 | 1.2 |
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| MHC class II deficiency | 6 | 0.0 | 5.0 |
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Severe combined immunodeficiency | 51 | 4.233 | 2.1 |
| Disease | Target Count |
|---|---|
| Rheumatoid arthritis | 1191 |
| Bare Lymphocyte Syndrome, Type 2 | 4 |
| Disease | log2 FC | p |
|---|---|---|
| active Crohn's disease | 1.856 | 7.0e-03 |
| active ulcerative colitis | 1.105 | 4.6e-02 |
| breast carcinoma | 1.100 | 3.1e-04 |
| interstitial cystitis | 1.400 | 6.6e-04 |
| lung cancer | -2.500 | 6.4e-04 |
| osteosarcoma | -3.814 | 1.6e-07 |
| ovarian cancer | 1.200 | 4.8e-08 |
| primary Sjogren syndrome | 1.200 | 5.4e-03 |
| psoriasis | -1.100 | 5.3e-03 |
| tuberculosis | 1.200 | 1.6e-04 |
MRCLAPRPAGSYLSEPQGSSQCATMELGPLEGGYLELLNSDADPLCLYHFYDQMDLAGEEEIELYSEPDT 1 - 70 DTINCDQFSRLLCDMEGDEETREAYANIAELDQYVFQDSQLEGLSKDIFKHIGPDEVIGESMEMPAEVGQ 71 - 140 KSQKRPFPEELPADLKHWKPAEPPTVVTGSLLVRPVSDCSTLPCLPLPALFNQEPASGQMRLEKTDQIPM 141 - 210 PFSSSSLSCLNLPEGPIQFVPTISTLPHGLWQISEAGTGVSSIFIYHGEVPQASQVPPPSGFTVHGLPTS 211 - 280 PDRPGSTSPFAPSATDLPSMPEPALTSRANMTEHKTSPTQCPAAGEVSNKLPKWPEPVEQFYRSLQDTYG 281 - 350 AEPAGPDGILVEVDLVQARLERSSSKSLERELATPDWAERQLAQGGLAEVLLAAKEHRRPRETRVIAVLG 351 - 420 KAGQGKSYWAGAVSRAWACGRLPQYDFVFSVPCHCLNRPGDAYGLQDLLFSLGPQPLVAADEVFSHILKR 421 - 490 PDRVLLILDGFEELEAQDGFLHSTCGPAPAEPCSLRGLLAGLFQKKLLRGCTLLLTARPRGRLVQSLSKA 491 - 560 DALFELSGFSMEQAQAYVMRYFESSGMTEHQDRALTLLRDRPLLLSHSHSPTLCRAVCQLSEALLELGED 561 - 630 AKLPSTLTGLYVGLLGRAALDSPPGALAELAKLAWELGRRHQSTLQEDQFPSADVRTWAMAKGLVQHPPR 631 - 700 AAESELAFPSFLLQCFLGALWLALSGEIKDKELPQYLALTPRKKRPYDNWLEGVPRFLAGLIFQPPARCL 701 - 770 GALLGPSAAASVDRKQKVLARYLKRLQPGTLRARQLLELLHCAHEAEEAGIWQHVVQELPGRLSFLGTRL 771 - 840 TPPDAHVLGKALEAAGQDFSLDLRSTGICPSGLGSLVGLSCVTRFRAALSDTVALWESLQQHGETKLLQA 841 - 910 AEEKFTIEPFKAKSLKDVEDLGKLVQTQRTRSSSEDTAGELPAVRDLKKLEFALGPVSGPQAFPKLVRIL 911 - 980 TAFSSLQHLDLDALSENKIGDEGVSQLSATFPQLKSLETLNLSQNNITDLGAYKLAEALPSLAASLLRLS 981 - 1050 LYNNCICDVGAESLARVLPDMVSLRVMDVQYNKFTAAGAQQLAASLRRCPHVETLAMWTPTIPFSVQEHL 1051 - 1120 QQQDSRISLR 1121 - 1130 //
