RFXANK
Major histocompatibility (MHC) class II molecules are transmembrane proteins that have a central role in development and control of the immune system. The protein encoded by this gene, along with regulatory factor X-associated protein and regulatory factor-5, forms a complex that binds to the X box motif of certain MHC class II gene promoters and activates their transcription. Once bound to the promoter, this complex associates with the non-DNA-binding factor MHC class II transactivator, which controls the cell type specificity and inducibility of MHC class II gene expression. This protein contains ankyrin repeats involved in protein-protein interactions. Mutations in this gene have been linked to bare lymphocyte syndrome type II, complementation group B. Multiple alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2013]
Full Name
Regulatory Factor X Associated Ankyrin Containing Protein
Function
Activates transcription from class II MHC promoters. Activation requires the activity of the MHC class II transactivator/CIITA. May regulate other genes in the cell. RFX binds the X1 box of MHC-II promoters (PubMed:9806546, PubMed:10072068, PubMed:10725724).
May also potentiate the activation of RAF1 (By similarity).
Isoform 2 is not involved in the positive regulation of MHC class II genes.
May also potentiate the activation of RAF1 (By similarity).
Isoform 2 is not involved in the positive regulation of MHC class II genes.
Biological Process
Biological Process positive regulation of MHC class II biosynthetic process1 PublicationIC:ComplexPortal
Biological Process positive regulation of transcription by RNA polymerase IIManual Assertion Based On ExperimentIDA:GO_Central
Biological Process Ras protein signal transductionIEA:Ensembl
Biological Process regulation of gene expressionManual Assertion Based On ExperimentIBA:GO_Central
Biological Process regulation of transcription by RNA polymerase IIManual Assertion Based On ExperimentIBA:GO_Central
Biological Process positive regulation of transcription by RNA polymerase IIManual Assertion Based On ExperimentIDA:GO_Central
Biological Process Ras protein signal transductionIEA:Ensembl
Biological Process regulation of gene expressionManual Assertion Based On ExperimentIBA:GO_Central
Biological Process regulation of transcription by RNA polymerase IIManual Assertion Based On ExperimentIBA:GO_Central
Cellular Location
Cytoplasm
Nucleus
Nucleus
Involvement in disease
Bare lymphocyte syndrome 2 (BLS2):
A severe combined immunodeficiency disease with early onset. It is characterized by a profound defect in constitutive and interferon-gamma induced MHC II expression, absence of cellular and humoral T-cell response to antigen challenge, hypogammaglobulinemia and impaired antibody production. The consequence include extreme susceptibility to viral, bacterial and fungal infections.
A severe combined immunodeficiency disease with early onset. It is characterized by a profound defect in constitutive and interferon-gamma induced MHC II expression, absence of cellular and humoral T-cell response to antigen challenge, hypogammaglobulinemia and impaired antibody production. The consequence include extreme susceptibility to viral, bacterial and fungal infections.
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Anti-RFXANK antibodies
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CompareTarget: RFXANK
Specificity: Human
Target: RFXANK
Specificity: Human
Target: RFXANK
Host: Mouse
Antibody Isotype: IgG2b
Specificity: Human
Clone: R179.1.1A9
Application*: IP
Target: RFXANK
Host: Mouse
Specificity: Human
Clone: E-4
Application*: WB, IP, IF, E
Target: RFXANK
Host: Mouse
Antibody Isotype: IgG2a, κ
Specificity: Human
Clone: 4G10
Application*: E, IF, WB
Target: RFXANK
Host: Mouse
Antibody Isotype: IgG1
Specificity: Human
Clone: 3F5
Application*: IF, F, IH, WB
Target: RFXANK
Host: Mouse
Antibody Isotype: IgG2b
Specificity: Human
Clone: 3e7
Application*: WB, F, IH, IF, P
Target: RFXANK
Host: Mouse
Antibody Isotype: IgG1
Specificity: Human
Clone: 3C10
Application*: WB, P, F, IF
Target: RFXANK
Host: Mouse
Antibody Isotype: IgG2a
Specificity: Human
Clone: 3B4
Application*: WB, IF
Target: RFXANK
Host: Mouse
Antibody Isotype: IgG2a
Specificity: Human
Clone: 2G7
Application*: WB
Target: RFXANK
Host: Mouse
Antibody Isotype: IgG2b
Specificity: Human
Clone: 2F12
Application*: IF, F, IH, WB
Target: RFXANK
Host: Mouse
Antibody Isotype: IgG1
Specificity: Human
Clone: 2C6
Application*: IF, IH, WB
Target: RFXANK
Host: Mouse
Antibody Isotype: IgG2b
Specificity: Human
Clone: 2B6
Application*: IF, IH, WB
Target: RFXANK
Host: Mouse
Antibody Isotype: IgG1
Specificity: Human
Clone: 1G4
Application*: WB, IF
Target: RFXANK
Host: Mouse
Antibody Isotype: IgG2b
Specificity: Human
Clone: 1A9
Application*: IP, M
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(P): Predicted
* Abbreviations
- AActivation
- AGAgonist
- APApoptosis
- BBlocking
- BABioassay
- BIBioimaging
- CImmunohistochemistry-Frozen Sections
- CIChromatin Immunoprecipitation
- CTCytotoxicity
- CSCostimulation
- DDepletion
- DBDot Blot
- EELISA
- ECELISA(Cap)
- EDELISA(Det)
- ESELISpot
- EMElectron Microscopy
- FFlow Cytometry
- FNFunction Assay
- GSGel Supershift
- IInhibition
- IAEnzyme Immunoassay
- ICImmunocytochemistry
- IDImmunodiffusion
- IEImmunoelectrophoresis
- IFImmunofluorescence
- IGImmunochromatography
- IHImmunohistochemistry
- IMImmunomicroscopy
- IOImmunoassay
- IPImmunoprecipitation
- ISIntracellular Staining for Flow Cytometry
- LALuminex Assay
- LFLateral Flow Immunoassay
- MMicroarray
- MCMass Cytometry/CyTOF
- MDMeDIP
- MSElectrophoretic Mobility Shift Assay
- NNeutralization
- PImmunohistologyp-Paraffin Sections
- PAPeptide Array
- PEPeptide ELISA
- PLProximity Ligation Assay
- RRadioimmunoassay
- SStimulation
- SESandwich ELISA
- SHIn situ hybridization
- TCTissue Culture
- WBWestern Blot
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