Interacting proteins: O14593 and P33076 |
Pubmed |
SVM Score :0.0 |
CIITA is a class 2 gene transactivator known to be defective in one form of BLS and to be required for the induction of MHC class 2 by IFN gamma . ^^^ |
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Interacting proteins: O14593 and P33076 |
Pubmed |
SVM Score :0.0 |
Unlike RFX 5 and RFXAP deficient cells , transfection of exogenous class 2 transactivator ( CIITA ) into these RFX B deficient fibroblasts resulted in the induction of HLA DR and HLA DP and , to a lesser extent , HLA DQ . ^^^ Similarly , CIITA mediated induction of MHC class 1 , beta 2 microglobulin , and invariant chain genes was also found in these RFX B deficient fibroblasts . ^^^ Transfection of CIITA into Ramia cells , a B cell line that does not produce a stable RFX B mRNA , resulted in induction of an MHC class 2 reporter , suggesting that CIITA overexpression may partially override the RFX B defect . . ^^^ |
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Interacting proteins: O14593 and P33076 |
Pubmed |
SVM Score :0.0 |
The bare lymphocyte syndrome , a severe combined immunodeficiency due to loss of major histocompatibility complex ( MHC ) class 2 gene expression , is caused by inherited mutations in the genes encoding the heterotrimeric transcription factor RFX ( RFX B , RFX 5 , and RFXAP ) and the class 2 transactivator CIITA . ^^^ |
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Interacting proteins: O14593 and P33076 |
Pubmed |
SVM Score :0.0 |
Deficiencies in four proteins that regulate MHC 2 genes in humans ( RFX B , RFX 5 , RFXAP , and CIITA ) cause an inherited immunodeficiency disorder known as the bare lymphocyte syndrome ( BLS ) . ^^^ |
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Interacting proteins: O14593 and P33076 |
Pubmed |
SVM Score :0.0 |
Four transacting genes , CIITA , RFXANK , RFX 5 , and RFXAP , control coordinate MHC 2 expression . ^^^ |
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Interacting proteins: O14593 and P33076 |
Pubmed |
SVM Score :0.0 |
Identification of the gene that is defective in BLS complementation group A , CIITA ( MHC class 2 transactivator ) , has led to the discovery that CIITA acts as a master control factor of MHC class 2 expression . ^^^ We have identified the CIITA mutations in a second patient from BLS group A . ^^^ |
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Interacting proteins: O14593 and P33076 |
Pubmed |
SVM Score :0.0 |
One defect from a complementation group A type 2 BLS patient is a 24 aa deletion in the MHC class 2 transactivator ( CIITA ) . ^^^ |
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Interacting proteins: O14593 and P33076 |
Pubmed |
SVM Score :0.0 |
BLS is the prototype of a `` disease of gene regulation . ' ' The affected genes encode RFXANK , RFX 5 , RFXAP , and CIITA , four regulatory factors that are highly specific and essential for MHCII genes . ^^^ |
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Interacting proteins: O14593 and P33076 |
Pubmed |
SVM Score :0.0 |
Expression of major histocompatibility complex ( MHC ) class 2 genes is controlled at the transcriptional level by at least four trans acting genes , CIITA , RFXANK , RFX 5 , and RFXAP . ^^^ |
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Interacting proteins: O14593 and P33076 |
Pubmed |
SVM Score :0.0 |
We demonstrate direct interaction of CIITA with the MHC class 2 promoter binding protein RFX 5 and could also detect novel interactions with RFXANK , NF YB , and YC . ^^^ |
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Interacting proteins: O14593 and P33076 |
Pubmed |
SVM Score :0.0 |
These genes encode RFXANK , RFXS , RFXAP and CIITA . ^^^ |
|
Interacting proteins: O14593 and P33076 |
Pubmed |
SVM Score :0.0 |
These genes encode CIITA , RFXANK , RFX 5 and RFXAP . ^^^ |
|
Interacting proteins: O14593 and P33076 |
Pubmed |
SVM Score :0.0 |
Site directed alanine mutagenesis of these residues together with in vitro and in vivo binding studies elucidated how RFXAP and CIITA , which simultaneously interact with RFXANK in vivo , bind to two opposite faces of its ankyrin repeats . ^^^ |
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Interacting proteins: O14593 and P33076 |
Pubmed |
SVM Score :0.0 |
Major histocompatibility complex class 2 ( MHCII ) deficiency is a primary immunodeficiency resulting from defects in one of four different MHCII specific transcription factors CIITA , RFX 5 , RFXAP , and RFXANK . ^^^ This test is based on direct correction of the genetic defect by transduction of cells from patients with lentiviral vectors encoding CIITA , RFXANK , RFX 5 , or RFXAP . ^^^ |
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Interacting proteins: O14593 and P33076 |
Pubmed |
SVM Score :0.0 |
MHC class 2 deficiency is a combined immunodeficiency caused by defects in the four regulatory factors , CIITA , RFXANK , RFX 5 and RFXAP , that control MHC 2 expression at the transcriptional level . ^^^ |
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Interacting proteins: O14593 and P33076 |
Pubmed |
SVM Score :0.0 |
Furthermore , our results demonstrate that CREB 1 , RFXANK and Oct 2 occupy the DOB promoter in vivo , However , CIITA and Bob 1 were only minimally recruited . ^^^ |
|
Interacting proteins: O14593 and P33076 |
Pubmed |
SVM Score :0.0 |
These genes encode RFXANK , RFX 5 , RFXAP and CIITA . ^^^ |
|
Interacting proteins: O14593 and P33076 |
Pubmed |
SVM Score :0.0 |
Consistent with the physical interaction with RFXANK and CIITA , HDAC 4 and homologs repressed MHCII expression . ^^^ These results identify ANKRA , RFXANK , and CIITA as novel targets of class IIa HDACs and suggest that these deacetylases play a role in regulating MHCII expression . . ^^^ |
|
Interacting proteins: O14593 and P33076 |
Pubmed |
SVM Score :0.0 |
Major histocompatibility complex class 2 deficiency , a rare autosomal recessive primary immunodeficiency , is caused by the defective expression of human leucocyte antigen ( HLA ) class 2 molecules due to mutated trans acting elements of any one of four regulatory genes ( CIITA , RFXANK , RFX 5 , RFXAP ) . ^^^ |
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Interacting proteins: O14593 and P33076 |
Pubmed |
SVM Score :0.0 |
NA |
|
Interacting proteins: O14593 and P33076 |
Pubmed |
SVM Score :0.0 |
NA |
|
Interacting proteins: O14593 and P33076 |
Pubmed |
SVM Score :0.0 |
NA |
|
Interacting proteins: O14593 and P33076 |
Pubmed |
SVM Score :0.0 |
NA |
|
Interacting proteins: O14593 and P33076 |
Pubmed |
SVM Score :0.0 |
NA |
|
Interacting proteins: O14593 and P33076 |
Pubmed |
SVM Score :0.0 |
NA |
|
Interacting proteins: O14593 and P33076 |
Pubmed |
SVM Score :0.0 |
NA |
|
Interacting proteins: O14593 and P33076 |
Pubmed |
SVM Score :0.0 |
NA |
|
Interacting proteins: O14593 and P33076 |
Pubmed |
SVM Score :0.0 |
NA |
|
Interacting proteins: O14593 and P33076 |
Pubmed |
SVM Score :0.0 |
NA |
|
Interacting proteins: O14593 and P33076 |
Pubmed |
SVM Score :0.0 |
NA |
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