Human Gene RBPJ (ENST00000355476.8) from GENCODE V44
Description: Homo sapiens recombination signal binding protein for immunoglobulin kappa J region (RBPJ), transcript variant 2, mRNA. (from RefSeq NM_015874) RefSeq Summary (NM_203284): The protein encoded by this gene is a transcriptional regulator important in the Notch signaling pathway. The encoded protein acts as a repressor when not bound to Notch proteins and an activator when bound to Notch proteins. It is thought to function by recruiting chromatin remodeling complexes containing histone deacetylase or histone acetylase proteins to Notch signaling pathway genes. Several transcript variants encoding different isoforms have been found for this gene, and several pseudogenes of this gene exist on chromosome 9. [provided by RefSeq, Oct 2013]. Gencode Transcript: ENST00000355476.8 Gencode Gene: ENSG00000168214.22 Transcript (Including UTRs) Position: hg38 chr4:26,321,014-26,434,923 Size: 113,910 Total Exon Count: 11 Strand: + Coding Region Position: hg38 chr4:26,321,029-26,431,007 Size: 109,979 Coding Exon Count: 11
ID:SUH_HUMAN DESCRIPTION: RecName: Full=Recombining binding protein suppressor of hairless; AltName: Full=CBF-1; AltName: Full=J kappa-recombination signal-binding protein; AltName: Full=RBP-J kappa; Short=RBP-J; Short=RBP-JK; AltName: Full=Renal carcinoma antigen NY-REN-30; FUNCTION: Transcriptional regulator that plays a central role in Notch signaling, a signaling pathway involved in cell-cell communication that regulates a broad spectrum of cell-fate determinations. Acts as a transcriptional repressor when it is not associated with Notch proteins. When associated with some NICD product of Notch proteins (Notch intracellular domain), it acts as a transcriptional activator that activates transcription of Notch target genes. Probably represses or activates transcription via the recruitment of chromatin remodeling complexes containing histone deacetylase or histone acetylase proteins, respectively. Specifically binds to the immunoglobulin kappa-type J segment recombination signal sequence. Binds specifically to methylated DNA. SUBUNIT: Interacts with activated NOTCH1, NOTCH2 or NOTCH3. Interacts with MINT/SHARP. This interaction may mediate the recruitment of large corepressor complexes containing proteins such as HDAC1, HDAC2, NCOR2, SAP30, FHL1/KYOT2 and CIR1. Interacts with EP300, MAML1 and PTF1A. Interacts with Epstein-Barr virus EBNA2, EBNA3, EBNA4 and EBNA6. Interacts with RITA/C12orf52, leading to nuclear export, prevent the interaction between RBPJ and NICD product and subsequent down-regulation of the Notch signaling pathway. INTERACTION: P46531:NOTCH1; NbExp=2; IntAct=EBI-632552, EBI-636374; Q13573:SNW1; NbExp=2; IntAct=EBI-632552, EBI-632715; SUBCELLULAR LOCATION: Nucleus. Cytoplasm. Note=Mainly nuclear, upon interaction with RITA/C12orf52, translocates to the cytoplasm, down-regulating the Notch signaling pathway. SIMILARITY: Belongs to the Su(H) family. SIMILARITY: Contains 1 IPT/TIG domain. CAUTION: Despite some similarity with the "phage" integrase family, it has no recombinase activity. SEQUENCE CAUTION: Sequence=AAA16254.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q06330
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
L07875 - Human Jk-recombination signal binding protein (RBPJK) mRNA exons 1-3, 5' end. BC020780 - Homo sapiens recombination signal binding protein for immunoglobulin kappa J region, mRNA (cDNA clone MGC:22780 IMAGE:4718839), complete cds. L07874 - Human Jk-recombination signal binding protein (RBPJK) mRNA exons 1-3, 5' end. L07872 - Homo sapiens recombination signal binding protein (RBPJK) mRNA, partial cds. AK303244 - Homo sapiens cDNA FLJ56276 complete cds, highly similar to Recombining binding protein suppressor of hairless. AK311419 - Homo sapiens cDNA, FLJ18461. AB527795 - Synthetic construct DNA, clone: pF1KB5901, Homo sapiens RBPSUH gene for recombination signal binding protein for immunoglobulin kappa J region, without stop codon, in Flexi system. AK302230 - Homo sapiens cDNA FLJ50914 complete cds, highly similar to Recombining binding protein suppressor of hairless. BC053568 - Homo sapiens cDNA clone IMAGE:6204982, containing frame-shift errors. BC064976 - Homo sapiens recombination signal binding protein for immunoglobulin kappa J region, mRNA (cDNA clone MGC:70941 IMAGE:6152924), complete cds. BC053531 - Homo sapiens recombining binding protein suppressor of hairless (Drosophila), mRNA (cDNA clone IMAGE:3874812), partial cds. L07876 - Human Jk-recombination signal binding protein (RBPJK) mRNA exons 2-3, 5' end. Z36843 - H.sapiens (xs86) mRNA, 314bp. D14041 - Homo sapiens mRNA for H-2K binding factor-2, complete cds. EU446485 - Synthetic construct Homo sapiens clone IMAGE:100070170; IMAGE:100011694; FLH257498.01L recombination signal binding protein for immunoglobulin kappa J region (RBPJ) gene, encodes complete protein. EU832795 - Synthetic construct Homo sapiens clone HAIB:100067824; DKFZo008D0233 recombination signal binding protein for immunoglobulin kappa J region protein (RBPJ) gene, encodes complete protein. GQ129335 - Synthetic construct Homo sapiens clone HAIB:100068484; DKFZo004D0234 recombination signal binding protein for immunoglobulin kappa J region protein (RBPJ) gene, partial cds. CU676712 - Synthetic construct Homo sapiens gateway clone IMAGE:100023026 5' read RBPJ mRNA. KJ897041 - Synthetic construct Homo sapiens clone ccsbBroadEn_06435 RBPJ gene, encodes complete protein. JD168315 - Sequence 149339 from Patent EP1572962. AK126357 - Homo sapiens cDNA FLJ44386 fis, clone TRACH3036609. FW339986 - Screening. JD193391 - Sequence 174415 from Patent EP1572962. JD237756 - Sequence 218780 from Patent EP1572962. JD296645 - Sequence 277669 from Patent EP1572962. JD297311 - Sequence 278335 from Patent EP1572962. JD507038 - Sequence 488062 from Patent EP1572962. JD509239 - Sequence 490263 from Patent EP1572962. JD503657 - Sequence 484681 from Patent EP1572962. JD154750 - Sequence 135774 from Patent EP1572962. JD235561 - Sequence 216585 from Patent EP1572962. JD279310 - Sequence 260334 from Patent EP1572962. JD494110 - Sequence 475134 from Patent EP1572962. JD236387 - Sequence 217411 from Patent EP1572962. AF086058 - Homo sapiens full length insert cDNA clone YY93G09. AK056944 - Homo sapiens cDNA FLJ32382 fis, clone SKMUS1000084. JD259401 - Sequence 240425 from Patent EP1572962. JD345849 - Sequence 326873 from Patent EP1572962. JD187839 - Sequence 168863 from Patent EP1572962. JD061619 - Sequence 42643 from Patent EP1572962. JD245542 - Sequence 226566 from Patent EP1572962. JD315482 - Sequence 296506 from Patent EP1572962. JD378434 - Sequence 359458 from Patent EP1572962. JD315488 - Sequence 296512 from Patent EP1572962. JD180936 - Sequence 161960 from Patent EP1572962. JD171723 - Sequence 152747 from Patent EP1572962. JD114466 - Sequence 95490 from Patent EP1572962. JD274228 - Sequence 255252 from Patent EP1572962. JD284774 - Sequence 265798 from Patent EP1572962.
Biochemical and Signaling Pathways
BioCarta from NCI Cancer Genome Anatomy Project h_ps1Pathway - Presenilin action in Notch and Wnt signaling h_hesPathway - Segmentation Clock h_notchpathway - Proteolysis and Signaling Pathway of Notch
Reactome (by CSHL, EBI, and GO)
Protein Q06330 (Reactome details) participates in the following event(s):
R-HSA-212356 Formation of CSL-NICD coactivator complex R-HSA-2197588 NICD2 binds RBPJ and MAML in the nucleus R-HSA-9013631 NICD3 binds RBPJ and MAML in the nucleus R-NUL-9013647 NICD3 binds RBPJ and MAML in the nucleus R-HSA-1912388 NICD1 displaces co-repressor complex from RBPJ (CSL) R-HSA-2220982 NICD1 PEST domain mutants displace co-repressor complex from RBPJ (CSL) R-HSA-1912394 NICD1 in complex with RBPJ (CSL) recruits MAML R-NUL-2064264 NICD1 displaces NCOR co-repressor complex from CSL R-HSA-1912391 NICD1 is phosphorylated by CDK8 R-NUL-2065178 CDK8 phosphorylates xNICD1 R-HSA-2220971 CDK8 phosphorylates NICD1 PEST domain mutants R-NUL-4396363 mNICD1 Chimeric Enhancer Complex binds Hes1 promoter R-HSA-2976563 NOTCH2 coactivator complex and phosphorylated CREB1 bind GZMB promoter R-HSA-2976716 NOTCH2 coactivator complex binds HES1 promoter R-HSA-2976726 NOTCH2 coactivator complex binds HES5 promoter R-HSA-2976742 NOTCH2 coactivator complex binds FCER2 promoter R-HSA-2220964 NICD1 PEST domain mutants in complex with RBPJ (CSL) bind MAML R-HSA-9013652 NOTCH3 coactivator complex binds HES1 gene promoter R-HSA-9016916 NOTCH3 coactivator complex binds the PTCRA gene promoter R-HSA-9018542 NOTCH3 coactivator complex binds DLGAP5 gene promoter R-HSA-9021325 NOTCH3 coactivator complex and STAT1 bind HES1 gene promoter R-HSA-9021406 NOTCH3 coactivator complex binds PBX1 gene promoter R-HSA-9021480 NOTCH3 coactivator complex binds WWC1 (Kibra) gene promoter R-NUL-9013660 Notch3 coactivator complex binds Hes1 gene promoter R-HSA-1912393 MAML in complex with NICD1 recruits CDK8 R-HSA-4396347 NOTCH1 Coactivator Complex binds HES1 promoter R-HSA-4396371 NOTCH1 Coactivator Complex binds MYC promoter R-HSA-4396379 NOTCH1 Coactivator Complex binds HES5 promoter R-HSA-4396382 NOTCH1 Coactivator Complex binds promoters of HEY genes R-HSA-8878220 RUNX3 binds the NOTCH1 coactivator complex R-HSA-9017835 NOTCH1 coactivator complex binds NOTCH3 gene R-NUL-2064916 MAML recruits CDK8:CCNC to xNICD1 R-HSA-2220957 NOTCH1 PEST domain mutants coactivator complex binds CDK8:CCNC R-HSA-4396392 NOTCH1 PEST domain mutants bind HES1 promoter R-HSA-4396393 NOTCH1 PEST domain mutants bind MYC promoter R-HSA-4396401 NOTCH1 PEST domain mutants bind HES5 promoter R-HSA-4396402 NOTCH1 PEST domain mutants bind promoters of HEY genes R-HSA-9021451 NOTCH1,NOTCH3 coactivator complex binds PLXND1 gene promoter R-HSA-8878237 RUNX3:NOTCH1 coactivator complex binds the HES1 gene promoter R-HSA-157052 NICD traffics to nucleus R-HSA-350054 Notch-HLH transcription pathway R-HSA-2197563 NOTCH2 intracellular domain regulates transcription R-HSA-9013508 NOTCH3 Intracellular Domain Regulates Transcription R-HSA-2122947 NOTCH1 Intracellular Domain Regulates Transcription R-HSA-2644606 Constitutive Signaling by NOTCH1 PEST Domain Mutants R-HSA-2894862 Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants R-HSA-212436 Generic Transcription Pathway R-HSA-1980145 Signaling by NOTCH2 R-HSA-9012852 Signaling by NOTCH3 R-HSA-1980143 Signaling by NOTCH1 R-HSA-2644602 Signaling by NOTCH1 PEST Domain Mutants in Cancer R-HSA-2894858 Signaling by NOTCH1 HD+PEST Domain Mutants in Cancer R-HSA-8941856 RUNX3 regulates NOTCH signaling R-HSA-1912408 Pre-NOTCH Transcription and Translation R-HSA-73857 RNA Polymerase II Transcription R-HSA-157118 Signaling by NOTCH R-HSA-2644603 Signaling by NOTCH1 in Cancer R-HSA-8878159 Transcriptional regulation by RUNX3 R-HSA-1912422 Pre-NOTCH Expression and Processing R-HSA-74160 Gene expression (Transcription) R-HSA-162582 Signal Transduction R-HSA-5663202 Diseases of signal transduction R-HSA-1643685 Disease
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