| RFX1 | |||||||||||||||||||||||||||||||||||||||||||||||||||
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| Aliases | RFX1 , EFC, RFX, regulatory factor X1 | ||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | OMIM: 600006 MGI: 105982 HomoloGene: 2189 GeneCards: RFX1 | ||||||||||||||||||||||||||||||||||||||||||||||||||
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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. [5] [6] [7]
The RFX1 gene is a member of the regulatory factor X (RFX) gene family, which encodes transcription factors that contain five conserved domains including a highly conserved, centrally located, winged helix DNA binding domain as well as a dimerization domain located in the C-terminal region of the sequence. [8] Apart from the five conserved domains, the RFX proteins diverge significantly. The DNA binding and dimerization domains of the RFX family proteins show no similarities to the other domains with the same functions in other proteins. [6]
The RFX protein family is conserved in S. pombe , S. cerevisiae , C. elegans , mice and humans. [9] There are seven known RFX proteins in humans, five in mice, and one in C. elegans as well as one in each of the two species of yeast. [9] [10]
The protein encoded by this gene is structurally related to regulatory factors X2, X3, X4, and X5. It is a transcriptional activator that can bind DNA as a monomer or as a heterodimer with RFX family members X2, X3, and X5, but not with X4. This protein binds to the Xboxes of MHC class II genes and is essential for their expression. Also, it can bind to an inverted repeat that is required for expression of hepatitis B virus genes. [7] The RFX proteins were originally cloned and characterized due to their high affinity for a cis-acting promoter sequence, called the Xbox, found in all MHC class II genes. [6]
Levels of mRNA encoding this protein as well as RFX2 and RFX3 are found to be consistently elevated in the testis and are variable in other tissues throughout the body. [6]
RFX1 contains a C-terminal sequence with no apparent homology to other RFX proteins. This C-terminal tail contains an acidic region that is thought to aid in crossing the nuclear membrane. Two major functions are hypothesized to this exist for this domain: a contribution to the nuclear localization signal (NLS) as well as the contradictory down-regulation of DNA binding as well as nuclear association. These two functions were originally identified through sequence mutations and translational fusions with gfp (green fluorescent protein) and remain to be confirmed. [11]
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.
Interferon regulatory factor 3, also known as IRF3, is an interferon regulatory factor.
The proto-oncogene c-Rel is a protein that in humans is encoded by the REL gene. The c-Rel protein is a member of the NF-κB family of transcription factors and contains a Rel homology domain (RHD) at its N-terminus and two C-terminal transactivation domains. c-Rel is a myeloid checkpoint protein that can be targeted for treating cancer. c-Rel has an important role in B-cell survival and proliferation. The REL gene is amplified or mutated in several human B-cell lymphomas, including diffuse large B-cell lymphoma and Hodgkin's lymphoma.
Nuclear transcription factor Y subunit beta is a protein that in humans is encoded by the NFYB gene.
C-terminal-binding protein 1 also known as CtBP1 is a protein that in humans is encoded by the CTBP1 gene. CtBP1 is one of two CtBP proteins, the other protein being CtBP2.
Myocyte-specific enhancer factor 2A is a protein that in humans is encoded by the MEF2A gene. MEF2A is a transcription factor in the Mef2 family. In humans it is located on chromosome 15q26. Certain mutations in MEF2A cause an autosomal dominant form of coronary artery disease and myocardial infarction.
DNA-binding protein RFX5 is a protein that in humans is encoded by the RFX5 gene.
Interferon regulatory factor 8 (IRF8) also known as interferon consensus sequence-binding protein (ICSBP), is a protein that in humans is encoded by the IRF8 gene. IRF8 is a transcription factor that plays critical roles in the regulation of lineage commitment and in myeloid cell maturation including the decision for a common myeloid progenitor (CMP) to differentiate into a monocyte precursor cell.
Nuclear factor 1 C-type is a protein that in humans is encoded by the NFIC gene.
Nuclear factor 1 X-type is a protein that in humans is encoded by the NFIX gene. NFI-X3, a splice variant of NFIX, regulates Glial fibrillary acidic protein and YKL-40 in astrocytes.
DNA-binding protein RFXANK is a protein that in humans is encoded by the RFXANK gene.
CAMP responsive element binding protein-like 1, also known as CREBL1, is a protein which in humans is encoded by the CREBL1 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.
Transcription factor RFX4 is a protein that in humans is encoded by the RFX4 gene.
Zinc finger protein 143 is a protein that in humans is encoded by the ZNF143 gene.
Transcription factor RFX3 is a protein that in humans is encoded by the RFX3 gene.
Mediator of RNA polymerase II transcription subunit 26 is an enzyme that in humans is encoded by the MED26 gene. It forms part of the Mediator complex.
Regulatory factor X, 6 also known as DNA-binding protein RFX6 is a protein that in humans is encoded by the RFX6 gene.
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
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