RFX4

Protein-coding gene in the species Homo sapiens
RFX4
Identifiers
AliasesRFX4, NYD-SP10, regulatory factor X4
External IDsOMIM: 603958 MGI: 1918387 HomoloGene: 31119 GeneCards: RFX4
Gene location (Human)
Chromosome 12 (human)
Chr.Chromosome 12 (human)[1]
Chromosome 12 (human)
Genomic location for RFX4
Genomic location for RFX4
Band12q23.3Start106,583,004 bp[1]
End106,762,803 bp[1]
Gene location (Mouse)
Chromosome 10 (mouse)
Chr.Chromosome 10 (mouse)[2]
Chromosome 10 (mouse)
Genomic location for RFX4
Genomic location for RFX4
Band10|10 C1Start84,591,926 bp[2]
End84,742,402 bp[2]
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • external globus pallidus

  • internal globus pallidus

  • sperm

  • caudate nucleus

  • amygdala

  • nucleus accumbens

  • superior vestibular nucleus

  • ganglionic eminence

  • putamen

  • entorhinal cortex
Top expressed in
  • spermatocyte

  • spermatid

  • suprachiasmatic nucleus

  • globus pallidus

  • seminiferous tubule

  • dorsal tegmental nucleus

  • medial vestibular nucleus

  • paraventricular nucleus of hypothalamus

  • mammillary body

  • urethra
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
SpeciesHumanMouse
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 MbChr 10: 84.59 – 84.74 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/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. ^ a b c GRCh38: Ensembl release 89: ENSG00000111783 – Ensembl, May 2017
  2. ^ a b c 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. ^ a b "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. S2CID 25208340.
  • 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. Bibcode:2002PNAS...9916899M. 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

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

  • v
  • t
  • e
(1) Basic domains
(1.1) Basic leucine zipper (bZIP)
(1.2) Basic helix-loop-helix (bHLH)
Group A
Group B
Group C
bHLH-PAS
Group D
Group E
Group F
bHLH-COE
(1.3) bHLH-ZIP
(1.4) NF-1
(1.5) RF-X
(1.6) Basic helix-span-helix (bHSH)
(2) Zinc finger DNA-binding domains
(2.1) Nuclear receptor (Cys4)
subfamily 1
subfamily 2
subfamily 3
subfamily 4
subfamily 5
subfamily 6
subfamily 0
(2.2) Other Cys4
(2.3) Cys2His2
(2.4) Cys6
(2.5) Alternating composition
(2.6) WRKY
(3) Helix-turn-helix domains
(3.1) Homeodomain
Antennapedia
ANTP class
protoHOX
Hox-like
metaHOX
NK-like
other
(3.2) Paired box
(3.3) Fork head / winged helix
(3.4) Heat shock factors
(3.5) Tryptophan clusters
(3.6) TEA domain
  • transcriptional enhancer factor
(4) β-Scaffold factors with minor groove contacts
(4.1) Rel homology region
(4.2) STAT
(4.3) p53-like
(4.4) MADS box
(4.6) TATA-binding proteins
(4.7) High-mobility group
(4.9) Grainyhead
(4.10) Cold-shock domain
(4.11) Runt
(0) Other transcription factors
(0.2) HMGI(Y)
(0.3) Pocket domain
(0.5) AP-2/EREBP-related factors
(0.6) Miscellaneous
see also transcription factor/coregulator deficiencies


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