Homo sapiens Gene: RBPJ
Summary
InnateDB Gene IDBG-12527.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol RBPJ
Gene Name recombination signal binding protein for immunoglobulin kappa J region
Synonyms AOS3; CBF1; csl; IGKJRB; IGKJRB1; KBF2; RBP-J; RBPJK; RBPSUH; SUH
Species Homo sapiens
Ensembl Gene ENSG00000168214
Encoded Proteins
recombination signal binding protein for immunoglobulin kappa J region
recombination signal binding protein for immunoglobulin kappa J region
recombination signal binding protein for immunoglobulin kappa J region
recombination signal binding protein for immunoglobulin kappa J region
recombination signal binding protein for immunoglobulin kappa J region
recombination signal binding protein for immunoglobulin kappa J region
recombination signal binding protein for immunoglobulin kappa J region
recombination signal binding protein for immunoglobulin kappa J region
recombination signal binding protein for immunoglobulin kappa J region
recombination signal binding protein for immunoglobulin kappa J region
recombination signal binding protein for immunoglobulin kappa J region
recombination signal binding protein for immunoglobulin kappa J region
recombination signal binding protein for immunoglobulin kappa J region
recombination signal binding protein for immunoglobulin kappa J region
recombination signal binding protein for immunoglobulin kappa J region
recombination signal binding protein for immunoglobulin kappa J region
recombination signal binding protein for immunoglobulin kappa J region
recombination signal binding protein for immunoglobulin kappa J region
recombination signal binding protein for immunoglobulin kappa J region
recombination signal binding protein for immunoglobulin kappa J region
recombination signal binding protein for immunoglobulin kappa J region
recombination signal binding protein for immunoglobulin kappa J region
recombination signal binding protein for immunoglobulin kappa J region
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary 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. Also, this protein can bind specifically to the recombination signal sequence of immunglobulin kappa type J segments. 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 2011]
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]
Gene Information
Type Protein coding
Genomic Location Chromosome 4:26163455-26435131
Strand Forward strand
Band p15.2
Transcripts
ENST00000348160 ENSP00000339699
ENST00000342295 ENSP00000345206
ENST00000345843 ENSP00000305815
ENST00000361572 ENSP00000354528
ENST00000342320 ENSP00000340124
ENST00000355476 ENSP00000347659
ENST00000512351 ENSP00000424789
ENST00000510778 ENSP00000427170
ENST00000506956 ENSP00000425750
ENST00000512671 ENSP00000423644
ENST00000514380
ENST00000514807 ENSP00000424989
ENST00000509158 ENSP00000424804
ENST00000513182 ENSP00000427344
ENST00000511401
ENST00000515023
ENST00000505958 ENSP00000426872
ENST00000507561 ENSP00000423907
ENST00000514730 ENSP00000425061
ENST00000507574 ENSP00000422617
ENST00000514675 ENSP00000423575
ENST00000515573 ENSP00000423406
ENST00000511546 ENSP00000422838
ENST00000504907 ENSP00000423703
ENST00000514656
ENST00000511451
ENST00000504938 ENSP00000424459
ENST00000506903
ENST00000510725
ENST00000504423 ENSP00000421804
ENST00000505727
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 66 experimentally validated interaction(s) in this database.
They are also associated with 18 interaction(s) predicted by orthology.
Experimentally validated
Total 66 [view]
Protein-Protein 58 [view]
Protein-DNA 7 [view]
Protein-RNA 1 [view]
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 18 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0000150 recombinase activity
GO:0000978 RNA polymerase II core promoter proximal region sequence-specific DNA binding
GO:0000979 RNA polymerase II core promoter sequence-specific DNA binding
GO:0000982 RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity
GO:0001077 RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription
GO:0001103 RNA polymerase II repressing transcription factor binding
GO:0001228 RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription
GO:0003677 DNA binding
GO:0003682 chromatin binding
GO:0003700 sequence-specific DNA binding transcription factor activity
GO:0005515 protein binding
GO:0008134 transcription factor binding
GO:0043565 sequence-specific DNA binding
GO:0047485 protein N-terminus binding
Biological Process
GO:0000122 negative regulation of transcription from RNA polymerase II promoter
GO:0001525 angiogenesis
GO:0001837 epithelial to mesenchymal transition
GO:0001974 blood vessel remodeling
GO:0002437 inflammatory response to antigenic stimulus
GO:0003139 secondary heart field specification
GO:0003151 outflow tract morphogenesis
GO:0003157 endocardium development
GO:0003160 endocardium morphogenesis
GO:0003198 epithelial to mesenchymal transition involved in endocardial cushion formation
GO:0003214 cardiac left ventricle morphogenesis
GO:0003222 ventricular trabecula myocardium morphogenesis
GO:0003256 regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation
GO:0006310 DNA recombination
GO:0006355 regulation of transcription, DNA-templated
GO:0006357 regulation of transcription from RNA polymerase II promoter
GO:0006366 transcription from RNA polymerase II promoter
GO:0006367 transcription initiation from RNA polymerase II promoter
GO:0006959 humoral immune response
GO:0007219 Notch signaling pathway
GO:0007221 positive regulation of transcription of Notch receptor target
GO:0007507 heart development
GO:0008284 positive regulation of cell proliferation
GO:0008285 negative regulation of cell proliferation
GO:0009912 auditory receptor cell fate commitment
GO:0009957 epidermal cell fate specification
GO:0010467 gene expression
GO:0010468 regulation of gene expression
GO:0010628 positive regulation of gene expression
GO:0021983 pituitary gland development
GO:0030097 hemopoiesis
GO:0030182 neuron differentiation
GO:0030183 B cell differentiation
GO:0030216 keratinocyte differentiation
GO:0030279 negative regulation of ossification
GO:0030513 positive regulation of BMP signaling pathway
GO:0035019 somatic stem cell maintenance
GO:0035912 dorsal aorta morphogenesis
GO:0036302 atrioventricular canal development
GO:0042742 defense response to bacterium
GO:0045165 cell fate commitment
GO:0045596 negative regulation of cell differentiation
GO:0045892 negative regulation of transcription, DNA-templated
GO:0045944 positive regulation of transcription from RNA polymerase II promoter
GO:0048505 regulation of timing of cell differentiation
GO:0048733 sebaceous gland development
GO:0048820 hair follicle maturation
GO:0060045 positive regulation of cardiac muscle cell proliferation
GO:0060486 Clara cell differentiation
GO:0060716 labyrinthine layer blood vessel development
GO:0060844 arterial endothelial cell fate commitment
GO:0061314 Notch signaling involved in heart development
GO:0072554 blood vessel lumenization
GO:0072602 interleukin-4 secretion
GO:0097101 blood vessel endothelial cell fate specification
GO:1901186 positive regulation of ERBB signaling pathway
GO:1901189 positive regulation of ephrin receptor signaling pathway
GO:1901297 positive regulation of canonical Wnt signaling pathway involved in cardiac muscle cell fate commitment
GO:2000138 positive regulation of cell proliferation involved in heart morphogenesis
Cellular Component
GO:0002193 MAML1-RBP-Jkappa- ICN1 complex
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005667 transcription factor complex
GO:0005730 nucleolus
GO:0005737 cytoplasm
Orthologs
Species
Mus musculus
Gene ID
Gene Order
Pathways
NETPATH
Notch pathway
REACTOME
NOTCH1 Intracellular Domain Regulates Transcription pathway
Pre-NOTCH Transcription and Translation pathway
Constitutive Signaling by NOTCH1 PEST Domain Mutants pathway
Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants pathway
Notch-HLH transcription pathway pathway
Generic Transcription Pathway pathway
Regulation of gene expression in late stage (branching morphogenesis) pancreatic bud precursor cells pathway
Developmental Biology pathway
Signaling by NOTCH1 t(7;9)(NOTCH1:M1580_K2555) Translocation Mutant pathway
Pre-NOTCH Expression and Processing pathway
Signaling by NOTCH1 in Cancer pathway
Regulation of beta-cell development pathway
FBXW7 Mutants and NOTCH1 in Cancer pathway
Signal Transduction pathway
Signaling by NOTCH2 pathway
Signaling by NOTCH1 PEST Domain Mutants in Cancer pathway
Signaling by NOTCH1 HD+PEST Domain Mutants in Cancer pathway
Signaling by NOTCH pathway
Signaling by NOTCH1 pathway
Signaling by NOTCH1 HD Domain Mutants in Cancer pathway
NOTCH2 intracellular domain regulates transcription pathway
Gene Expression pathway
Disease pathway
KEGG
Notch signaling pathway pathway
INOH
Notch signaling pathway pathway
PID NCI
Presenilin action in Notch and Wnt signaling
Notch-mediated HES/HEY network
Notch signaling pathway
Cross-References
SwissProt
TrEMBL D6RE93 D6REP3 D6RF98
UniProt Splice Variant
Entrez Gene 3516
UniGene Hs.479396 Hs.593474 Hs.604926 Hs.628188 Hs.732091
RefSeq NM_005349 NM_015874 NM_203283 NM_203284 XM_005248161 XM_006713962 XM_006713963
HUGO HGNC:5724
OMIM 147183
CCDS CCDS33969 CCDS3436 CCDS3437 CCDS43219
HPRD 00920
IMGT
EMBL AC093637 AC097109 AC097714 AC111003
GenPept
RNA Seq Atlas 3516