| RFXANK | |||||||||||||||||||||||||||||||||||||||||||||||||||
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| Identifiers | |||||||||||||||||||||||||||||||||||||||||||||||||||
| Aliases | RFXANK , ANKRA1, BLS, F14150_1, RFX-B, regulatory factor X associated ankyrin containing protein | ||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | OMIM: 603200 MGI: 1333865 HomoloGene: 2760 GeneCards: RFXANK | ||||||||||||||||||||||||||||||||||||||||||||||||||
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| Wikidata | |||||||||||||||||||||||||||||||||||||||||||||||||||
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DNA-binding protein RFXANK is a protein that in humans is encoded by the RFXANK gene. [5] [6] [7]
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. Two transcript variants encoding different isoforms have been described for this gene, with only one isoform showing activation activity. [7]
RFXANK has been shown to interact with RFXAP [8] [9] and CIITA. [8] [10]
In immunology, an antigen (Ag) is a molecule, moiety, foreign particulate matter, or an allergen, such as pollen, that can bind to a specific antibody or T-cell receptor. The presence of antigens in the body may trigger an immune response.
The major histocompatibility complex (MHC) is a large locus on vertebrate DNA containing a set of closely linked polymorphic genes that code for cell surface proteins essential for the adaptive immune system. These cell surface proteins are called MHC molecules.
Bare lymphocyte syndrome type II is a rare recessive genetic condition in which a group of genes called major histocompatibility complex class II are not expressed. The result is that the immune system is severely compromised and cannot effectively fight infection.
Bare lymphocyte syndrome is a condition caused by mutations in certain genes of the major histocompatibility complex or involved with the processing and presentation of MHC molecules. It is a form of severe combined immunodeficiency.
CIITA is a human gene which encodes a protein called the class II, major histocompatibility complex, transactivator. Mutations in this gene are responsible for the bare lymphocyte syndrome in which the immune system is severely compromised and cannot effectively fight infection. Chromosomal rearrangement of CIITA is involved in the pathogenesis of Hodgkin lymphoma and primary mediastinal B cell lymphoma.
Transcription factor 3, also known as TCF3, is a protein that in humans is encoded by the TCF3 gene. TCF3 has been shown to directly enhance Hes1 expression.
Nuclear transcription factor Y subunit beta is a protein that in humans is encoded by the NFYB gene.
GATA3 is a transcription factor that in humans is encoded by the GATA3 gene. Studies in animal models and humans indicate that it controls the expression of a wide range of biologically and clinically important genes.
Recombination signal binding protein for immunoglobulin kappa J region is a protein that in humans is encoded by the RBPJ gene.
SNW domain-containing protein 1 is a protein that in humans is encoded by the SNW1 gene.
MHC class II regulatory factor RFX1 is a protein that, in humans, is encoded by the RFX1 gene located on the short arm of chromosome 19.
Negative elongation factor E is a protein that in humans is encoded by the RDBP gene.
DNA-binding protein RFX5 is a protein that in humans is encoded by the RFX5 gene.
Pre-B-cell leukemia transcription factor 2 is a protein that in humans is encoded by the PBX2 gene.
Regulatory factor X-associated protein is a protein that in humans is encoded by the RFXAP gene.
DNA-binding protein RFX2 is a protein that in humans is encoded by the RFX2 gene.
HLA class II histocompatibility antigen, DX beta chain is a protein that in humans is encoded by the HLA-DQB2 gene.
Nuclear factor, interleukin 3 regulated, also known as NFIL3 or E4BP4 is a protein which in humans is encoded by the NFIL3 gene.
Transcription factor RFX3 is a protein that in humans is encoded by the RFX3 gene.
SLP65/SLP76, Csk-interacting membrane protein, termed SCIMP, belongs to family of transmembrane adaptor proteins (TRAP) which do not directly associate with a receptor, such as LAT, NTAL, LIME or LAX. SCIMP is expressed in antigen-presenting cells (APC), namely B cells, bone marrow-derived dendritic cells and macrophages.
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
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