RFX4

RFX4
Identifiers
Aliases	RFX4 , NYD-SP10, regulatory factor X4
External IDs	OMIM: 603958 MGI: 1918387 HomoloGene: 31119 GeneCards: RFX4
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 Top expressed in external globus pallidus internal globus pallidus sperm caudate nucleus amygdala nucleus accumbens Superior vestibular nucleus Ganglionic eminence putamen entorhinal cortex More reference expression data BioGPS n/a
Gene ontology Molecular function GO:0000980 RNA polymerase II cis-regulatory region sequence-specific DNA binding DNA binding GO:0001077, GO:0001212, GO:0001213, GO:0001211, GO:0001205 DNA-binding transcription activator activity, RNA polymerase II-specific chromatin binding GO:0001948 protein binding GO:0001200, GO:0001133, GO:0001201 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0001131, GO:0001151, GO:0001130, GO:0001204 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]

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)".

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.
• 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. doi:10.1128/mcb.14.2.1230. PMC   358479 . PMID   8289803.
• 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. Bibcode:2000Natur.403..916G. doi:10.1038/35002634. PMID   10706293. S2CID   4425783.
• 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.
• 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. Bibcode:2005Natur.437.1173R. doi:10.1038/nature04209. PMID   16189514. S2CID   4427026.
• Matsushita H, Uenaka A, Ono T, 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. PMID   16271074. S2CID   25967004.

External links

• RFX4+protein,+human at the US 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.