| Regulatory factor X, 4 (influences HLA class II expression) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Identifiers | |||||||||||||
| Symbols | RFX4; NYD-SP10 | ||||||||||||
| External IDs | OMIM: 603958 MGI: 1918387 HomoloGene: 31119 GeneCards: RFX4 Gene | ||||||||||||
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| Orthologs | |||||||||||||
| Species | Human | Mouse | |||||||||||
| Entrez | 5992 | 71137 | |||||||||||
| Ensembl | ENSG00000111783 | ENSMUSG00000020037 | |||||||||||
| UniProt | Q33E94 | Q7TNK1 | |||||||||||
| RefSeq (mRNA) | NM_001206691.1 | NM_001024918.1 | |||||||||||
| RefSeq (protein) | NP_001193620.1 | NP_001020089.1 | |||||||||||
| Location (UCSC) | Chr 12: 106.98 – 107.16 Mb |
Chr 10: 84.22 – 84.37 Mb |
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| PubMed search | [1] | [2] | |||||||||||
Transcription factor RFX4 is a protein that in humans is encoded by the RFX4 gene.[1][2][3]
This gene is a member of the regulatory factor X gene family, which encodes transcription factors that contain a highly-conserved winged helix DNA binding domain. The protein encoded by this gene is structurally related to regulatory factors X1, X2, X3, and X5. It has been shown to interact with itself as well as with regulatory factors X2 and X3, but it does not interact with regulatory factor X1. This protein may be a transcriptional repressor rather than a transcriptional activator. Three transcript variants encoding different isoforms have been described for this gene.[3]
References [link]
- ^ Emery P, Durand B, Mach B, Reith W (May 1996). "RFX proteins, a novel family of DNA binding proteins conserved in the eukaryotic kingdom". Nucleic Acids Res 24 (5): 803–7. DOI:10.1093/nar/24.5.803. PMC 145730. PMID 8600444. //www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=145730.
- ^ Morotomi-Yano K, Yano K, Saito H, Sun Z, Iwama A, Miki Y (Jan 2002). "Human regulatory factor X 4 (RFX4) is a testis-specific dimeric DNA-binding protein that cooperates with other human RFX members". J Biol Chem 277 (1): 836–42. DOI:10.1074/jbc.M108638200. PMID 11682486.
- ^ a b "Entrez Gene: RFX4 regulatory factor X, 4 (influences HLA class II expression)". https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=5992.
Further reading [link]
- Dotzlaw H, Alkhalaf M, Murphy LC (1992). "Characterization of estrogen receptor variant mRNAs from human breast cancers". Mol. Endocrinol. 6 (5): 773–85. DOI:10.1210/me.6.5.773. PMID 1603086.
- Reith W, Ucla C, Barras E et al. (1994). "RFX1, a transactivator of hepatitis B virus enhancer I, belongs to a novel family of homodimeric and heterodimeric DNA-binding proteins". Mol. Cell. Biol. 14 (2): 1230–44. PMC 358479. PMID 8289803. //www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=358479.
- Gajiwala KS, Chen H, Cornille F et al. (2000). "Structure of the winged-helix protein hRFX1 reveals a new mode of DNA binding". Nature 403 (6772): 916–21. DOI:10.1038/35002634. PMID 10706293.
- Strausberg RL, Feingold EA, Grouse LH et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. DOI:10.1073/pnas.242603899. PMC 139241. PMID 12477932. //www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=139241.
- Blackshear PJ, Graves JP, Stumpo DJ et al. (2003). "Graded phenotypic response to partial and complete deficiency of a brain-specific transcript variant of the winged helix transcription factor RFX4". Development 130 (19): 4539–52. DOI:10.1242/dev.00661. PMID 12925582.
- Araki R, Takahashi H, Fukumura R et al. (2004). "Restricted expression and photic induction of a novel mouse regulatory factor X4 transcript in the suprachiasmatic nucleus". J. Biol. Chem. 279 (11): 10237–42. DOI:10.1074/jbc.M312761200. PMID 14701801.
- Glaser B, Kirov G, Bray NJ et al. (2005). "Identification of a potential bipolar risk haplotype in the gene encoding the winged-helix transcription factor RFX4". Mol. Psychiatry 10 (10): 920–7. DOI:10.1038/sj.mp.4001689. PMID 15940297.
- Rual JF, Venkatesan K, Hao T et al. (2005). "Towards a proteome-scale map of the human protein-protein interaction network". Nature 437 (7062): 1173–8. DOI:10.1038/nature04209. PMID 16189514.
- Matsushita H, Uenaka A, Ono T et al. (2006). "Identification of glioma-specific RFX4-E and -F isoforms and humoral immune response in patients". Cancer Sci. 96 (11): 801–9. DOI:10.1111/j.1349-7006.2005.00112.x. PMID 16271074.
External links [link]
- RFX4+protein,+human at the US National Library of Medicine Medical Subject Headings (MeSH)
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This article on a gene on chromosome 12 is a stub. You can help Wikipedia by expanding it. |
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
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https://wn.com/RFX4
RFX1
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.
Structure
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. 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.
Species distribution
The RFX protein family is conserved in S. pombe, S. cerevisiae, C. elegans, mice and humans. 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.
Function
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. 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.
RFX5
DNA-binding protein RFX5 is a protein that in humans is encoded by the RFX5 gene.
Function
A lack of MHC-II expression results in a severe immunodeficiency syndrome called MHC-II deficiency, or the bare lymphocyte syndrome (BLS; MIM 209920). At least 4 complementation groups have been identified in B-cell lines established from patients with BLS. The molecular defects in complementation groups B, C, and D all lead to a deficiency in RFX, a nuclear protein complex that binds to the X box of MHC-II promoters. The lack of RFX binding activity in complementation group C results from mutations in the RFX5 gene encoding the 75-kD subunit of RFX (Steimle et al., 1995). RFX5 is the fifth member of the growing family of DNA-binding proteins sharing a novel and highly characteristic DNA-binding domain called the RFX motif. Multiple alternatively spliced transcript variants have been found but the full-length natures of only two have been determined.
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