RFX4

RFX4
Identifiers
Aliases	RFX4 , NYD-SP10, regulatory factor X4
External IDs	OMIM: 603958; MGI: 1918387; HomoloGene: 31119; GeneCards: RFX4; OMA:RFX4 - orthologs
Gene location (Human) Chr. Chromosome 12 (human) [1] Band 12q23.3 Start 106,583,004 bp [1] End 106,762,803 bp [1]
Gene location (Mouse) Chr. Chromosome 10 (mouse) [2] Band 10|10 C1 Start 84,591,926 bp [2] End 84,742,402 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in left testis right testis external globus pallidus ventricular zone internal globus pallidus sperm caudate nucleus amygdala nucleus accumbens superior vestibular nucleus Top expressed in lumbar subsegment of spinal cord spermatocyte spermatid suprachiasmatic nucleus Rostral migratory stream globus pallidus ventricular zone deep cerebellar nuclei seminiferous tubule dorsal tegmental nucleus More reference expression data BioGPS n/a
Gene ontology Molecular function RNA polymerase II cis-regulatory region sequence-specific DNA binding DNA binding DNA-binding transcription activator activity, RNA polymerase II-specific chromatin binding protein binding DNA-binding transcription factor activity, RNA polymerase II-specific DNA-binding transcription factor activity Cellular component nucleus Biological process regulation of transcription by RNA polymerase II forebrain development telencephalon development dorsal spinal cord development regulation of transcription, DNA-templated negative regulation of smoothened signaling pathway involved in ventral spinal cord patterning cerebellar cortex morphogenesis midbrain development positive regulation of transcription by RNA polymerase II regulation of protein processing transcription, DNA-templated transcription by RNA polymerase II cilium assembly Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 5992 71137 Ensembl ENSG00000111783 ENSMUSG00000020037 UniProt Q33E94 Q7TNK1 RefSeq (mRNA) NM_213594 NM_001206691 NM_002920 NM_032491 NM_001024918 NM_027689 RefSeq (protein) NP_001193620 NP_115880 NP_998759 NP_001020089 NP_081965 Location (UCSC) Chr 12: 106.58 – 106.76 Mb Chr 10: 84.59 – 84.74 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Transcription factor RFX4 is a protein that in humans is encoded by the RFX4 gene. ^{[5] [6] [7]}

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. ^[7]

RFX4 has been implicated in neural-lineage specification and in glioblastoma cell-state control: pooled transcription-factor overexpression with single-cell RNA-seq identified RFX4 as sufficient to induce neural progenitor–like programs from human pluripotent stem cells that differentiate toward CNS neuron and glia lineages, ^[8] and in glioblastoma, RFX4 was reported as an orchestrator of growth and differentiation in diffusely invading tumor cells, where perturbation redistributed invasion routes and extended survival in xenografts. ^[9]

References

1. GRCh38: Ensembl release 89: ENSG00000111783 – Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000020037 – Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. 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.
6. 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.
7. "Entrez Gene: RFX4 regulatory factor X, 4 (influences HLA class II expression)".
8. Joung J, Ma S, Tay T, Geiger-Schuller KR, Kirchgatterer PC, Verdine VK, et al. (January 5, 2023). "A transcription factor atlas of directed differentiation". Cell. 186 (1): 209–229.e26. doi:10.1016/j.cell.2022.11.026. PMC   10344468 . PMID   36608654.
9. Doroszko M, Stockgard R, Uppman I, Heinold J, Voukelatou F, Mangukiya HB, et al. (July 19, 2025). "The invasion phenotypes of glioblastoma depend on plastic and reprogrammable cell states". Nature Communications. 16 (1) 6662. Bibcode:2025NatCo..16.6662D. doi:10.1038/s41467-025-61999-1. PMC   12276355 . PMID   40683881.

Further reading

• 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/mend.6.5.1603086 . PMID   1603086. S2CID   25208340.
• Reith W, Ucla C, Barras E, Gaud A, Durand B, Herrero-Sanchez C, 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. doi:10.1128/mcb.14.2.1230. PMC   358479 . PMID   8289803.
• Gajiwala KS, Chen H, Cornille F, Roques BP, Reith W, Mach B, et al. (2000). "Structure of the winged-helix protein hRFX1 reveals a new mode of DNA binding". Nature. 403 (6772): 916–21. Bibcode:2000Natur.403..916G. doi:10.1038/35002634. PMID   10706293. S2CID   4425783.
• Strausberg RL, Feingold EA, Grouse LH, Derge JG, Klausner RD, Collins FS, 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. Bibcode:2002PNAS...9916899M. doi: 10.1073/pnas.242603899 . PMC   139241 . PMID   12477932.
• Blackshear PJ, Graves JP, Stumpo DJ, Cobos I, Rubenstein JL, Zeldin DC (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, Sun F, Umeda N, Sujino M, 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, Green E, O'Donovan MC, Craddock N, 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, Hirozane-Kishikawa T, Dricot A, Li N, et al. (2005). "Towards a proteome-scale map of the human protein-protein interaction network". Nature. 437 (7062): 1173–8. Bibcode:2005Natur.437.1173R. doi:10.1038/nature04209. PMID   16189514. S2CID   4427026.
• Matsushita H, Uenaka A, Ono T, Hasegawa K, Sato S, Koizumi F, et al. (2006). "Identification of glioma-specific RFX4-E and -F isoforms and humoral immune response in patients" (PDF). Cancer Sci. 96 (11): 801–9. doi:10.1111/j.1349-7006.2005.00112.x. PMC   11159248 . PMID   16271074. S2CID   25967004.

External links

• RFX4+protein,+human at the U.S. National Library of Medicine Medical Subject Headings (MeSH)

This article incorporates text from the United States National Library of Medicine, which is in the public domain.