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Symbol RBPJ contributors: mct - updated : 04-04-2018
HGNC name recombination signal binding protein for immunoglobulin kappa J region
HGNC id 5724
Corresponding disease
AOS3 Adams-Oliver syndrome 3
Location 4p15.2      Physical location : 26.321.331 - 26.433.278
Synonym name
  • recombining binding protein suppressor of hairless (Drosophila)
  • immunoglobulin Kappa J region recombination signal binding protein 1
  • C promoter binding factor 1
  • renal carcinoma antigen NY-REN-30
  • J kappa-recombination signal-binding protein
  • H-2K binding factor-2
  • Synonym symbol(s) IGKJRB, KBF2, IGKJRB1, CBF1, RBPJK, RBPSUH, SUH, csl, RBP-J, MGC61669, AOS3, RBP-JK
    TYPE functioning gene
    STRUCTURE 271.64 kb     12 Exon(s)
    MAPPING cloned Y linked N status confirmed
    TRANSCRIPTS type messenger
    text three alternative splicing isoforms APCR-1, APCR-2, APCR-3
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    12 splicing 2388 55 500 - 2017 28487372
    11 splicing 2316 54 487 - 2017 28487372
    11 splicing 2272 54 485 - 2017 28487372
    12 splicing 2499 54 486 - 2017 28487372
       expressed in (based on citations)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveliver   moderately
     mouth   highly
     pharynx   predominantly
     stomach   highly
    Endocrineadrenal gland   moderately
     neuroendocrinepituitary  highly
    Lymphoid/Immunethymus   moderately
    Nervousnerve   moderately
    Reproductivefemale systemuteruscervix highly
    Visualeye   moderately
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Blood / hematopoieticbone marrow  highly
    Muscular   highly
    cell lineage
    cell lines
    fluid/secretion moderately in blood, highly in lymph
    at STAGE
  • one IPT/TIG domain
    interspecies homolog to murine Rbpsuh (97.8 pc)
    homolog to Drosophila Su(H) (77.8 pc)
  • phage-integrase family
  • Su(H) family
  • CATEGORY DNA associated , transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
  • major transcriptional effector of NOTCH1 signaling, RBPJ, is retained on mitotic chromatin, and this mitotic chromatin association is mediated through the direct association of RBPJ with DNA
  • basic FUNCTION
  • involved in the V-(D)-J recombination as a recombinase
  • playing a central role in Notch signaling
  • acting as a transcriptional repressor when it is not associated with Notch proteins
  • acting as a transcriptional activator for Notch target genes, when associated with some Notch protein
  • probably involved in repression or activation of transcription via the recruitment of chromatin remodeling complexes containing histone deacetylase or histone acetylase proteins, respectively
  • important roles for RBPJ and NOTCH signaling in multiple aspects of inner ear development including prosensory cell maturation, cellular differentiation and survival
  • having a novel function that promotes INP (intermediate neural progenitors) differentiation
  • MAML1 and RBPJ, which are components of the Notch transcription complex, enhance Notch acetylation and we suggest that MAML1 increases Notch acetylation by potentiating EP300 autoacetylation
  • evolutionarily conserved protein that coordinates transcriptional activation of Notch-target genes through the assembly of protein complexes containing coactivators
  • negatively role of RBPJ in the differentiation of osteoclasts, suggesting that NOTCH1 pathway may be a new therapeutic target for bone diseases related to increased osteoclastogenesis
  • RBPJ can function as a mitotic bookmark, marking genes for efficient transcriptional activation or repression upon mitotic exit
  • likely by collaborating with CTCF, RBPJ may participate in establishing chromatin domains and/or long-range chromatin interactions that could be propagated through cell division to maintain gene expression programs
  • uterine RBPJ is essential for normal embryo development via instructing the initial embryonic-uterine orientation and ensuring normal decidual patterning in a stage-specific manner
  • temporal requirement for RBPJ in postnatal endothelial cell (EC) to maintain proper artery, capillary and vein organization and to prevent abnormal AV shunting and Arteriovenous malformations (AVMs) pathogenesis
  • environmental cues that regulate RBPJ expression/function potentially modulate the requirement for costimulatory signaling for osteoclast differentiation and bone remodeling
  • is a key transcription factor downstream of Notch receptor activation
  • role of RBPJ-dependent and independent NOTCH1 signaling pathways in cell apoptosis
  • is a key transcriptional repressor and mediator of Notch signaling
  • CELLULAR PROCESS cell life, differentiation
    nucleotide, recombination
    nucleotide, transcription, regulation
    PHYSIOLOGICAL PROCESS development , immunity/defense , angiogenesis
    text B cell differentiation; defense response to bacterium; heart development
    signaling signal transduction
  • Notch signaling pathway
  • NOTCH1/RBPJ signaling regulates the generation and differentiation of arcuate nucleus (Arc) neurons, which contribute to homeostatic regulation of body size neurons
  • RBPJ-dependent NOTCH1 pathway is a novel pathway involved in joint maintenance and articular cartilage homeostasis, a critical regulator of articular cartilage ECM-related molecules
  • NOTCH1/RBPJ signaling regulates dopamine responsiveness in the striatum, which may explain the mechanism whereby NOTCH1/RBPJ signaling affects an individual susceptibility to neuropsychiatric disease
  • a component
  • immunoglobulin Kappa-type J segment recombination signal sequence / RBPSUH complex with NOTCH in nucleus
  • SPEN forms a high affinity complex with RBPJ
    DNA binding specifically to the immunoglobulin kappa-type J segment recombination signal sequence
    small molecule
  • interacting with activated NOTCH1, NOTCH2 or NOTCH3
  • interacting with MINT/SHARP (which may mediate the recruitment of large corepressor complexes containing proteins such as HDAC1, HDAC2, NCOR2, SAP30, FHL1/KYOT2 and CIR)
  • interacting with EP300
  • NOTCH1 in concert with NOTCH2 contributes to the morphogenesis of renal vesicles into S-shaped bodies in a RBPJ-dependent manner
  • interacting with MAPK8IP1 (RBPJ inhibits MAPK8IP1-mediated activation of the MAPK8 signaling cascade and cell death)
  • principal DNA-binding partner of the Notch intracellular domain
  • WNT5A inhibited the physical association between RBPJ and NCOR2 suggesting that WNT5A induced CAMK2A activation plays a critical role in the endogenous RBPJ-NCOR2 binding
  • KDM1A functions as a corepressor when associated with RBPJ-repressor complex and as a NOTCH1 coactivator upon NOTCH1 activation
  • FHL1 binds RBPJ with high affinity and competes with coactivators, such as NOTCH1, for binding RBPJ
  • TP53, a key effector of the DNA damage response, negatively controls RBPJ gene transcription, through suppression of RBPJ promoter activity and, indirectly, by increased CDKN1A expression
  • RBPJ binds and trans-activates the IL23R promoter and induces IL23R expression and represses anti-inflammatory IL10 production in Th17 cells
  • RITA1 is a RBPJ (mammalian CSL ortholog)-interacting protein
  • in the absence of NOTCH intracellular domain (NOTCH ICD), RBPJ recruits L3MBTL3 and the histone demethylase KDM1A (also known as LSD1) to the enhancers of Notch target genes, leading to H3K4me2 demethylation and to transcriptional repression
  • cell & other
    corresponding disease(s) AOS3
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional       loss of function
    RBPJ deficient Dendritic cells exhibited attenuated cytoskeleton reorganization when contacting T cells
    Variant & Polymorphism
    Candidate gene
    Therapy target
    short hairpin interfering RNA (shRNA) intervention of RBPJ expression could be a promising therapeutic approach for treating human prostate cancer
    potentially important therapeutic target for Osteoarthritis (OA) -like joint disease