RBPJ (recombination signal binding protein for immunoglobulin kappa J region)

2007-02-01  

Identity

HGNC
LOCATION
4p15.2
LOCUSID
ALIAS
AOS3,CBF-1,CBF1,IGKJRB,IGKJRB1,KBF2,RBP-J,RBP-J
FUSION GENES

Other Information

Locus ID:

NCBI: 3516
MIM: 147183
HGNC: 5724
Ensembl: ENSG00000168214

Variants:

dbSNP: 3516
ClinVar: 3516
TCGA: ENSG00000168214
COSMIC: RBPJ

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000168214ENST00000342295Q06330
ENSG00000168214ENST00000342320Q06330
ENSG00000168214ENST00000345843Q06330
ENSG00000168214ENST00000348160Q06330
ENSG00000168214ENST00000355476Q06330
ENSG00000168214ENST00000361572Q06330
ENSG00000168214ENST00000504423H0Y8R3
ENSG00000168214ENST00000504907D6R927
ENSG00000168214ENST00000504938D6RB37
ENSG00000168214ENST00000505958D6RE93
ENSG00000168214ENST00000506956D6RIZ8
ENSG00000168214ENST00000507561Q06330
ENSG00000168214ENST00000507574D6RBQ8
ENSG00000168214ENST00000509158D6RF98
ENSG00000168214ENST00000510778D6RCM1
ENSG00000168214ENST00000511546D6R9X3
ENSG00000168214ENST00000512351D6RAT2
ENSG00000168214ENST00000512671D6R946
ENSG00000168214ENST00000513182D6RIV8
ENSG00000168214ENST00000514675D6R9K5
ENSG00000168214ENST00000514730D6REC2
ENSG00000168214ENST00000514807D6REP3
ENSG00000168214ENST00000515573D6RA45

Expression (GTEx)

0
10
20
30
40
50
60

Pathways

PathwaySourceExternal ID
Notch signaling pathwayKEGGko04330
Notch signaling pathwayKEGGhsa04330
Epstein-Barr virus infectionKEGGhsa05169
Epstein-Barr virus infectionKEGGko05169
Viral carcinogenesisKEGGhsa05203
Viral carcinogenesisKEGGko05203
Notch signalingKEGGhsa_M00682
Notch signalingKEGGM00682
DiseaseREACTOMER-HSA-1643685
Diseases of signal transductionREACTOMER-HSA-5663202
Signaling by NOTCH1 in CancerREACTOMER-HSA-2644603
Signaling by NOTCH1 PEST Domain Mutants in CancerREACTOMER-HSA-2644602
Constitutive Signaling by NOTCH1 PEST Domain MutantsREACTOMER-HSA-2644606
Signaling by NOTCH1 HD+PEST Domain Mutants in CancerREACTOMER-HSA-2894858
Constitutive Signaling by NOTCH1 HD+PEST Domain MutantsREACTOMER-HSA-2894862
Signal TransductionREACTOMER-HSA-162582
Signaling by NOTCHREACTOMER-HSA-157118
Pre-NOTCH Expression and ProcessingREACTOMER-HSA-1912422
Pre-NOTCH Transcription and TranslationREACTOMER-HSA-1912408
Signaling by NOTCH1REACTOMER-HSA-1980143
NOTCH1 Intracellular Domain Regulates TranscriptionREACTOMER-HSA-2122947
Signaling by NOTCH2REACTOMER-HSA-1980145
NOTCH2 intracellular domain regulates transcriptionREACTOMER-HSA-2197563
Gene ExpressionREACTOMER-HSA-74160
Generic Transcription PathwayREACTOMER-HSA-212436
Notch-HLH transcription pathwayREACTOMER-HSA-350054
Developmental BiologyREACTOMER-HSA-1266738
Regulation of beta-cell developmentREACTOMER-HSA-186712
Regulation of gene expression in late stage (branching morphogenesis) pancreatic bud precursor cellsREACTOMER-HSA-210744
Th1 and Th2 cell differentiationKEGGko04658
Th1 and Th2 cell differentiationKEGGhsa04658

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
204538422010Genome-wide association study meta-analysis identifies seven new rheumatoid arthritis risk loci.480
165300442006Structural basis for cooperativity in recruitment of MAML coactivators to Notch transcription complexes.179
217377482011Genome-wide analysis reveals conserved and divergent features of Notch1/RBPJ binding in human and murine T-lymphoblastic leukemia cells.111
123747422002SHARP is a novel component of the Notch/RBP-Jkappa signalling pathway.103
163546842006PTF1 is an organ-specific and Notch-independent basic helix-loop-helix complex containing the mammalian Suppressor of Hairless (RBP-J) or its paralogue, RBP-L.92
192400612009Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling.75
162878522005RBP-Jkappa/SHARP recruits CtIP/CtBP corepressors to silence Notch target genes.69
172845872007Cooperative assembly of higher-order Notch complexes functions as a switch to induce transcription.67
128326212003Lytic but not latent infection by Kaposi's sarcoma-associated herpesvirus requires host CSL protein, the mediator of Notch signaling.62
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62

Citation

Dessen P

RBPJ (recombination signal binding protein for immunoglobulin kappa J region)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/46041/rbpj