RBPJ

Protein-coding gene in the species Homo sapiens
RBPJ
Available structures
PDBOrtholog search: PDBe RCSB
List of PDB id codes

2F8X, 3NBN, 3V79

Identifiers
AliasesRBPJ, AOS3, CBF1, IGKJRB, IGKJRB1, KBF2, RBP-J, RBPJK, RBPSUH, SUH, csl, recombination signal binding protein for immunoglobulin kappa J region, RBP-J kappa, RBP-JK, CBF-1
External IDsOMIM: 147183; MGI: 96522; HomoloGene: 7511; GeneCards: RBPJ; OMA:RBPJ - orthologs
Gene location (Human)
Chromosome 4 (human)
Chr.Chromosome 4 (human)[1]
Chromosome 4 (human)
Genomic location for RBPJ
Genomic location for RBPJ
Band4p15.2Start26,163,455 bp[1]
End26,435,131 bp[1]
Gene location (Mouse)
Chromosome 5 (mouse)
Chr.Chromosome 5 (mouse)[2]
Chromosome 5 (mouse)
Genomic location for RBPJ
Genomic location for RBPJ
Band5 C1|5 29.37 cMStart53,623,494 bp[2]
End53,814,704 bp[2]
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • inferior olivary nucleus

  • Achilles tendon

  • nipple

  • corpus callosum

  • dorsal motor nucleus of vagus nerve

  • middle temporal gyrus

  • synovial joint

  • inferior ganglion of vagus nerve

  • pericardium

  • visceral pleura
Top expressed in
  • vestibular membrane of cochlear duct

  • stroma of bone marrow

  • ventricular zone

  • zygote

  • renal corpuscle

  • carotid body

  • ciliary body

  • Paneth cell

  • medial ganglionic eminence

  • ankle
More reference expression data
BioGPS
More reference expression data
Gene ontology
Molecular function
  • protein N-terminus binding
  • protein binding
  • DNA strand exchange activity
  • chromatin binding
  • DNA-binding transcription activator activity, RNA polymerase II-specific
  • DNA binding
  • transcription factor activity, RNA polymerase II core promoter proximal region sequence-specific binding
  • DNA-binding transcription factor activity
  • sequence-specific DNA binding
  • transcription factor binding
  • RNA polymerase II cis-regulatory region sequence-specific DNA binding
  • DNA-binding transcription factor activity, RNA polymerase II-specific
Cellular component
  • nucleolus
  • MAML1-RBP-Jkappa- ICN1 complex
  • transcription regulator complex
  • cytoplasm
  • nucleus
  • nucleoplasm
  • transcription repressor complex
Biological process
  • artery morphogenesis
  • regulation of transcription by RNA polymerase II
  • neuron differentiation
  • epidermal cell fate specification
  • positive regulation of cell population proliferation
  • club cell differentiation
  • somatic stem cell population maintenance
  • endocardium development
  • cell fate commitment
  • DNA recombination
  • somitogenesis
  • positive regulation of transcription from RNA polymerase II promoter in response to hypoxia
  • defense response to bacterium
  • regulation of timing of cell differentiation
  • regulation of transcription, DNA-templated
  • humoral immune response
  • keratinocyte differentiation
  • hair follicle maturation
  • negative regulation of cell population proliferation
  • pituitary gland development
  • negative regulation of cell differentiation
  • Notch signaling involved in heart development
  • transcription, DNA-templated
  • positive regulation of gene expression
  • arterial endothelial cell fate commitment
  • myeloid dendritic cell differentiation
  • blood vessel remodeling
  • secondary heart field specification
  • regulation of cell population proliferation
  • positive regulation of transcription by RNA polymerase II
  • transcription initiation from RNA polymerase II promoter
  • sebaceous gland development
  • positive regulation of canonical Wnt signaling pathway involved in cardiac muscle cell fate commitment
  • inflammatory response to antigenic stimulus
  • heart development
  • auditory receptor cell fate commitment
  • B cell differentiation
  • regulation of gene expression
  • Notch signaling pathway
  • dorsal aorta morphogenesis
  • atrioventricular canal development
  • positive regulation of ephrin receptor signaling pathway
  • epithelial to mesenchymal transition involved in endocardial cushion formation
  • outflow tract morphogenesis
  • cardiac left ventricle morphogenesis
  • negative regulation of transcription by RNA polymerase II
  • labyrinthine layer blood vessel development
  • blood vessel lumenization
  • endocardium morphogenesis
  • ventricular trabecula myocardium morphogenesis
  • negative regulation of ossification
  • positive regulation of cell proliferation involved in heart morphogenesis
  • positive regulation of cardiac muscle cell proliferation
  • angiogenesis
  • epithelial to mesenchymal transition
  • positive regulation of BMP signaling pathway
  • positive regulation of ERBB signaling pathway
  • blood vessel endothelial cell fate specification
  • negative regulation of transcription, DNA-templated
  • positive regulation of transcription of Notch receptor target
  • positive regulation of Notch signaling pathway
  • hemopoiesis
  • aortic valve development
  • pulmonary valve development
  • ventricular septum morphogenesis
  • negative regulation of cold-induced thermogenesis
Sources:Amigo / QuickGO
Orthologs
SpeciesHumanMouse
Entrez

3516

19664

Ensembl

ENSG00000168214

ENSMUSG00000039191

UniProt

Q06330

P31266

RefSeq (mRNA)
NM_005349
NM_015874
NM_203283
NM_203284
NM_001363577

NM_001374400
NM_001374401
NM_001374402
NM_001374403
NM_001379406
NM_001379407
NM_001379408
NM_001379409

NM_001080927
NM_001080928
NM_001277116
NM_009035
NM_001359152

RefSeq (protein)
NP_005340
NP_056958
NP_976028
NP_976029
NP_001350506

NP_001361329
NP_001361330
NP_001361331
NP_001361332
NP_001366335
NP_001366336
NP_001366337
NP_001366338

NP_001074396
NP_001074397
NP_001264045
NP_033061
NP_001346081

Location (UCSC)Chr 4: 26.16 – 26.44 MbChr 5: 53.62 – 53.81 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Recombination signal binding protein for immunoglobulin kappa J region is a protein that in humans is encoded by the RBPJ gene.[5][6][7]

RBPJ[8] also known as CBF1, is the human homolog for the Drosophila gene Suppressor of Hairless. Its promoter region is classically used to demonstrate Notch1 signaling.[9]

Interactions

RBPJ has been shown to interact with:

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000168214 – Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000039191 – 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. ^ Amakawa R, Jing W, Ozawa K, et al. (August 1993). "Human Jk recombination signal binding protein gene (IGKJRB): comparison with its mouse homologue". Genomics. 17 (2): 306–315. doi:10.1006/geno.1993.1326. PMID 8406481.
  6. ^ Tang X, Saito-Ohara F, Song J, et al. (June 1997). "Assignment of the human gene for KBF2/RBP-Jk to chromosome 9p12-13 and 9q13 by fluorescence in situ hybridization". The Japanese Journal of Human Genetics. 42 (2): 337–341. doi:10.1007/BF02766956. PMID 9290259.
  7. ^ "NCBI Gene: RBPJ recombination signal binding protein for immunoglobulin kappa J region".
  8. ^ "HGNC: RBPJ Symbol Report".
  9. ^ Hsieh JJ, Henkel T, Salmon P, et al. (March 1996). "Truncated mammalian Notch1 activates CBF1/RBPJk-repressed genes by a mechanism resembling that of Epstein-Barr virus EBNA2". Molecular and Cellular Biology. 16 (3): 952–959. doi:10.1128/mcb.16.3.952. PMC 231077. PMID 8622698.
  10. ^ Nam Y, Weng AP, Aster JC, et al. (June 2003). "Structural requirements for assembly of the CSL.intracellular Notch1.Mastermind-like 1 transcriptional activation complex". The Journal of Biological Chemistry. 278 (23): 21232–21239. doi:10.1074/jbc.M301567200. PMID 12644465.
  11. ^ Aster JC, Robertson ES, Hasserjian RP, et al. (April 1997). "Oncogenic forms of NOTCH1 lacking either the primary binding site for RBP-Jkappa or nuclear localization sequences retain the ability to associate with RBP-Jkappa and activate transcription". The Journal of Biological Chemistry. 272 (17): 11336–11343. doi:10.1074/jbc.272.17.11336. PMID 9111040.
  12. ^ Beatus P, Lundkvist J, Oberg C, et al. (June 2001). "The origin of the ankyrin repeat region in Notch intracellular domains is critical for regulation of HES promoter activity". Mechanisms of Development. 104 (1–2): 3–20. doi:10.1016/s0925-4773(01)00373-2. PMID 11404076. S2CID 9526831.
  13. ^ Zhou S, Hayward SD (September 2001). "Nuclear localization of CBF1 is regulated by interactions with the SMRT corepressor complex". Molecular and Cellular Biology. 21 (18): 6222–6232. doi:10.1128/mcb.21.18.6222-6232.2001. PMC 87339. PMID 11509665.
  14. ^ Kurooka H, Honjo T (June 2000). "Functional interaction between the mouse notch1 intracellular region and histone acetyltransferases PCAF and GCN5". The Journal of Biological Chemistry. 275 (22): 17211–17220. doi:10.1074/jbc.M000909200. PMID 10747963.
  15. ^ a b Zhou S, Fujimuro M, Hsieh JJ, et al. (February 2000). "A role for SKIP in EBNA2 activation of CBF1-repressed promoters". Journal of Virology. 74 (4): 1939–1947. doi:10.1128/jvi.74.4.1939-1947.2000. PMC 111672. PMID 10644367.
  16. ^ Hsieh JJ, Zhou S, Chen L, et al. (January 1999). "CIR, a corepressor linking the DNA binding factor CBF1 to the histone deacetylase complex". Proceedings of the National Academy of Sciences of the United States of America. 96 (1): 23–28. Bibcode:1999PNAS...96...23H. doi:10.1073/pnas.96.1.23. PMC 15086. PMID 9874765.
  17. ^ Zhou S, Fujimuro M, Hsieh JJ, et al. (April 2000). "SKIP, a CBF1-associated protein, interacts with the ankyrin repeat domain of NotchIC To facilitate NotchIC function". Molecular and Cellular Biology. 20 (7): 2400–2410. doi:10.1128/mcb.20.7.2400-2410.2000. PMC 85419. PMID 10713164.
  18. ^ Overman J, Fontaine F, Wylie-Sears J, et al. (July 2019). van Lohuizen M, Koh GY, Ostergaard P (eds.). "R-propranolol is a small molecule inhibitor of the SOX18 transcription factor in a rare vascular syndrome and hemangioma". eLife. 8: e43026. doi:10.7554/eLife.43026. PMC 6667216. PMID 31358114.
  19. ^ Díaz-Trelles R, Scimia MC, Bushway P, et al. (June 2016). "Notch-independent RBPJ controls angiogenesis in the adult heart". Nature Communications. 7 (1): 12088. Bibcode:2016NatCo...712088D. doi:10.1038/ncomms12088. PMC 4931341. PMID 27357444.

Further reading

  • Oka C, Kawaichi M (1995). "V(D)J recombination of immunoglobulin genes". Advances in Biophysics. 31: 163–180. doi:10.1016/0065-227X(95)99390-B. PMID 7625272.
  • Matsunami N, Hamaguchi Y, Yamamoto Y, et al. (1990). "A protein binding to the J kappa recombination sequence of immunoglobulin genes contains a sequence related to the integrase motif". Nature. 342 (6252): 934–937. doi:10.1038/342934a0. PMID 2556644. S2CID 4370462.
  • Tong X, Drapkin R, Yalamanchili R, et al. (September 1995). "The Epstein-Barr virus nuclear protein 2 acidic domain forms a complex with a novel cellular coactivator that can interact with TFIIE". Molecular and Cellular Biology. 15 (9): 4735–4744. doi:10.1128/mcb.15.9.4735. PMC 230717. PMID 7651391.
  • Zhao B, Marshall DR, Sample CE (July 1996). "A conserved domain of the Epstein-Barr virus nuclear antigens 3A and 3C binds to a discrete domain of Jkappa". Journal of Virology. 70 (7): 4228–4236. doi:10.1128/JVI.70.7.4228-4236.1996. PMC 190353. PMID 8676443.
  • Tamura K, Taniguchi Y, Minoguchi S, et al. (December 1995). "Physical interaction between a novel domain of the receptor Notch and the transcription factor RBP-J kappa/Su(H)". Current Biology. 5 (12): 1416–1423. Bibcode:1995CBio....5.1416T. doi:10.1016/S0960-9822(95)00279-X. hdl:2433/202204. PMID 8749394. S2CID 18442572.
  • Gress TM, Müller-Pillasch F, Geng M, et al. (October 1996). "A pancreatic cancer-specific expression profile". Oncogene. 13 (8): 1819–1830. PMID 8895530.
  • Hsieh JJ, Nofziger DE, Weinmaster G, et al. (March 1997). "Epstein-Barr virus immortalization: Notch2 interacts with CBF1 and blocks differentiation". Journal of Virology. 71 (3): 1938–1945. doi:10.1128/JVI.71.3.1938-1945.1997. PMC 191274. PMID 9032325.
  • Aster JC, Robertson ES, Hasserjian RP, et al. (April 1997). "Oncogenic forms of NOTCH1 lacking either the primary binding site for RBP-Jkappa or nuclear localization sequences retain the ability to associate with RBP-Jkappa and activate transcription". The Journal of Biological Chemistry. 272 (17): 11336–11343. doi:10.1074/jbc.272.17.11336. PMID 9111040.
  • Kao HY, Ordentlich P, Koyano-Nakagawa N, et al. (August 1998). "A histone deacetylase corepressor complex regulates the Notch signal transduction pathway". Genes & Development. 12 (15): 2269–2277. doi:10.1101/gad.12.15.2269. PMC 317043. PMID 9694793.
  • Hsieh JJ, Zhou S, Chen L, et al. (January 1999). "CIR, a corepressor linking the DNA binding factor CBF1 to the histone deacetylase complex". Proceedings of the National Academy of Sciences of the United States of America. 96 (1): 23–28. Bibcode:1999PNAS...96...23H. doi:10.1073/pnas.96.1.23. PMC 15086. PMID 9874765.
  • Scanlan MJ, Gordan JD, Williamson B, et al. (November 1999). "Antigens recognized by autologous antibody in patients with renal-cell carcinoma". International Journal of Cancer. 83 (4): 456–464. doi:10.1002/(SICI)1097-0215(19991112)83:4<456::AID-IJC4>3.0.CO;2-5. PMID 10508479.
  • Callahan J, Aster J, Sklar J, et al. (January 2000). "Intracellular forms of human NOTCH1 interact at distinctly different levels with RBP-jkappa in human B and T cells". Leukemia. 14 (1): 84–92. doi:10.1038/sj.leu.2401630. PMID 10637481.
  • Smith PR, de Jesus O, Turner D, et al. (April 2000). "Structure and coding content of CST (BART) family RNAs of Epstein-Barr virus". Journal of Virology. 74 (7): 3082–3092. doi:10.1128/JVI.74.7.3082-3092.2000. PMC 111807. PMID 10708423.
  • Zhou S, Fujimuro M, Hsieh JJ, et al. (April 2000). "SKIP, a CBF1-associated protein, interacts with the ankyrin repeat domain of NotchIC To facilitate NotchIC function". Molecular and Cellular Biology. 20 (7): 2400–2410. doi:10.1128/MCB.20.7.2400-2410.2000. PMC 85419. PMID 10713164.
  • Kurooka H, Honjo T (June 2000). "Functional interaction between the mouse notch1 intracellular region and histone acetyltransferases PCAF and GCN5". The Journal of Biological Chemistry. 275 (22): 17211–17220. doi:10.1074/jbc.M000909200. PMID 10747963.
  • Beatus P, Lundkvist J, Oberg C, et al. (June 2001). "The origin of the ankyrin repeat region in Notch intracellular domains is critical for regulation of HES promoter activity". Mechanisms of Development. 104 (1–2): 3–20. doi:10.1016/S0925-4773(01)00373-2. PMID 11404076. S2CID 9526831.
  • Zhou S, Hayward SD (September 2001). "Nuclear localization of CBF1 is regulated by interactions with the SMRT corepressor complex". Molecular and Cellular Biology. 21 (18): 6222–6232. doi:10.1128/MCB.21.18.6222-6232.2001. PMC 87339. PMID 11509665.

External links

  • v
  • t
  • e
  • 2f8x: Crystal structure of activated Notch, CSL and MAML on HES-1 promoter DNA sequence
    2f8x: Crystal structure of activated Notch, CSL and MAML on HES-1 promoter DNA sequence
  • 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

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