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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

RBPJ Gene

protein-coding   GIFtS: 63
GCID: GC04P026165

recombination signal binding protein for immunoglobulin...

(Previous name: recombining binding protein suppressor of hairless (Drosophila)...)
(Previous symbols: IGKJRB1, RBPSUH)
 Explore 24 diseases affiliated with
RBPJ via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for RBPJ    

Aliases
for RBPJ gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Recombination Signal Binding Protein For Immunoglobulin Kappa J Region1 2     RBP-JK2 3
IGKJRB11 2 3 5     RBP-J Kappa2 3
RBPSUH1 2 3 5     Recombining Binding Protein Suppressor Of Hairless (Drosophila)1
IGKJRB1 2 3     AOS32
RBP-J1 2 3     Csl1
RBPJK1 2 3     H-2K Binding Factor-22
CBF11 2     Immunoglobulin Kappa J Region Recombination Signal Binding Protein 12
KBF21 2     Recombining Binding Protein Suppressor Of Hairless2
SUH1 2     Suppressor Of Hairless Homolog2
Renal Carcinoma Antigen NY-REN-302 3     J Kappa-Recombination Signal-Binding Protein3
CBF-12 3     

External Ids:    HGNC: 57241   Entrez Gene: 35162   Ensembl: ENSG000001682147   OMIM: 1471835   UniProtKB: Q063303   

Export aliases for RBPJ gene to outside databases

Previous GC identifers: GC04P025930 GC04P026321 GC04P025659


Summaries
for RBPJ gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for RBPJ:
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)

UniProtKB/Swiss-Prot: SUH_HUMAN, Q06330
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

Gene Wiki entry for RBPJ


Genomic Views
for RBPJ gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000004.11  NC_018915.1  NT_006316.16  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the RBPJ gene promoter:
         AP-1   MyoD   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: RBPJ promoter sequence
   Search SABiosciences Chromatin IP Primers for RBPJ

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat RBPJ


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 4p15.2   Ensembl cytogenetic band:  4p15.2   HGNC cytogenetic band: 4p15.2

RBPJ Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
RBPJ gene location

GeneLoc information about chromosome 4         GeneLoc Exon Structure

GeneLoc location for GC04P026165:  view genomic region     (about GC identifiers)

Start:
 26,165,077 bp from pter      End:
 26,436,541 bp from pter
Size:
 271,465 bases      Orientation:
 plus strand

Proteins
for RBPJ gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
UniProtKB/Swiss-Prot: SUH_HUMAN, Q06330 (See protein sequence)
Recommended Name: Recombining binding protein suppressor of hairless  
Size: 500 amino acids; 55637 Da
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. Interacts with SNW1
Subcellular location: Nucleus. Cytoplasm. Note=Mainly nuclear, upon interaction with RITA/C12orf52, translocates to the
cytoplasm, down-regulating the Notch signaling pathway
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;
3 PDB 3D structures from and Proteopedia for RBPJ:
2F8X (3D)        3NBN (3D)        3V79 (3D)    
Secondary accessions: B4DY22 Q5XKH9 Q6P1N3
Alternative splicing: 7 isoforms:  Q06330-1   Q06330-2   Q06330-3   Q06330-4   Q06330-5   Q06330-6   Q06330-7   

Explore the universe of human proteins at neXtProt for RBPJ: NX_Q06330

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q06330

    • RBPJ Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (4 alternative transcripts): 
    NP_005340.2  NP_056958.3  NP_976028.1  NP_976029.1  

    ENSEMBL proteins: 
     ENSP00000424789   ENSP00000427170   ENSP00000425750   ENSP00000423644   ENSP00000305815  
     ENSP00000354528   ENSP00000424989   ENSP00000339699   ENSP00000424804   ENSP00000427344  
     ENSP00000426872   ENSP00000423907   ENSP00000425061   ENSP00000422617   ENSP00000423575  
     ENSP00000423406   ENSP00000422838   ENSP00000423703   ENSP00000340124   ENSP00000424459  
     ENSP00000421804   ENSP00000345206   ENSP00000347659  
    Reactome Protein details: Q06330
    Human Recombinant Protein Products: 
    Browse Purified and Recombinant Proteins at EMD Millipore
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    OriGene Purified Proteins (see all 2): RBPJ
    OriGene Protein Over-expression Lysate (see all 4): RBPJ
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    Novus Biologicals RBPJ Proteins
    Novus Biologicals RBPJ Lysates
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for RBPJ

    Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0002193MAML1-RBP-Jkappa- ICN1 complex IDA16510869
    GO:0005634nucleus IDA--
    GO:0005654nucleoplasm TAS--
    GO:0005730nucleolus IDA9874765
    GO:0005737cytoplasm IDA--


    RBPJ for ontologies           About GeneDecksing



    RBPJ Antibody Products: 
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    ThermoFisher Antibodies for RBPJ

    Assay Products for RBPJ: 
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    Uscn ELISAs and CLIAs for RBPJ

    Protein Domains /
    Families
    for RBPJ gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    RBPJ for domains           About GeneDecksing

    5/6 InterPro domains/families (see all 6):
     IPR014756 Ig_E-set
     IPR008967 p53-like_TF_DNA-bd
     IPR002909 IPT_TIG_rcpt
     IPR013783 Ig-like_fold
     IPR015350 Beta-trefoil_DNA-bd_dom

    Graphical View of Domain Structure for InterPro Entry Q06330

    ProtoNet protein and cluster: Q06330

    1 Blocks protein family: IPB002909 Cell surface receptor IPT/TIG

    UniProtKB/Swiss-Prot: SUH_HUMAN, Q06330
    Similarity: Belongs to the Su(H) family
    Similarity: Contains 1 IPT/TIG domain


    Function
    for RBPJ gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         UniProtKB/Swiss-Prot: SUH_HUMAN, Q06330
    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

    miRNA
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    Browse MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat RBPJ
    8/19 QIAGEN miScript miRNA Assays for microRNAs that regulate RBPJ (see all 19):
    hsa-miR-320a hsa-miR-502-5p hsa-miR-300 hsa-miR-548m hsa-miR-133a hsa-miR-548x hsa-miR-497* hsa-miR-548am
    SwitchGear 3'UTR luciferase reporter plasmid: RBPJ 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for RBPJ (see all 7)
    OriGene shRNA RFP: RBPJ
    OriGene siRNA: RBPJ
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat RBPJ

    Gene Editing
    Products:    		DNA2.0 Custom Protein Engineering Service for RBPJ

    Clone
    Products:             		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for RBPJ (see all 8)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for RBPJ (see all 4)
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    GenScript: all cDNA clones in your preferred vector (see all 4): RBPJ (NM_005349)
    Browse Sino Biological Human cDNA Clones
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat RBPJ 

    Cell Line
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    Search LifeMap BioReagents cell lines for RBPJ

    In Situ Assay
    Products:       
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    Gene Ontology (GO): 5/8 molecular function terms (GO ID links to tree view) (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000150recombinase activity NAS8406481
    GO:0000978RNA polymerase II core promoter proximal region sequence-specific DNA binding IEA--
    GO:0000982RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity ----
    GO:0001077RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription IDA18663143
    GO:0001103RNA polymerase II repressing transcription factor binding IPI16287852


    RBPJ for ontologies           About GeneDecksing


    Animal Models:
         Mouse knock-outs for RBPJ: Rbpjtm1Rsch Rbpjtm1.1Rsch Rbpjtm1Kyo Rbpjtm1.1Hon
         15/19 MGI mutant phenotypes (inferred from 5 alleles) (MGI details for Rbpj) (see all 19):
     behavior/neurological  cardiovascular system  cellular  digestive/alimentary  embryogenesis 
     endocrine/exocrine gland  growth/size  hematopoietic system  homeostasis/metabolism  immune system 
     integument  mortality/aging  muscle  nervous system  pigmentation 

    RBPJ for phenotypes           About GeneDecksing


    Pathways & Interactions
    for RBPJ gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/14 super-pathways (see all 14) About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Signaling by NOTCH1 t(7 9)(NOTCH1:M1580_K2555) Translocation Mutant
    8/11 pathways (see all 11)
    		Signaling by NOTCH1 t(7 9)(NOTCH1:M1580_K2555) Translocation Mutant1.00
    		Signaling by NOTCH11.00
    		Signaling by NOTCH1 PEST Domain Mutants in Cancer1.00
    		Constitutive Signaling by NOTCH1 PEST Domain Mutants0.79
    		Signaling by NOTCH1 HD+PEST Domain Mutants in Cancer1.00
    		Signaling by NOTCH0.77
    		Signaling by NOTCH1 in Cancer1.00
    		Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants0.71
    2Notch Signaling Pathway
    		Notch Signaling Pathway1.00
    		Delta-Notch Signaling Pathway0.27
    		Notch signaling pathway0.82
    3Development_Notch Signaling Pathway
    		Development_Notch Signaling Pathway1.00
    		Development Notch Signaling Pathway0.97
    4Generic Transcription Pathway
    		Generic Transcription Pathway1.00
    		Gene Expression0.46
    5Development NOTCH1-mediated pathway for NF-KB activity modulation
    		Development NOTCH1-mediated pathway for NF-KB activity modulation1.00
    		Development_NOTCH1-mediated pathway for NF-KB activity modulation0.88

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    3 EMD Millipore Pathways for RBPJ
        Development Notch Signaling Pathway
    Transcription factors in neurogenesis
    Development NOTCH1-mediated pathway for NF-KB activity modulation


    1 Cell Signaling Technology (CST) Pathway for RBPJ
        Wnt / Hedgehog / Notch

    2 GeneGo (Thomson Reuters) Pathways for RBPJ
        Development NOTCH1-mediated pathway for NF-KB activity modulation
    Development Notch Signaling Pathway

    5/6 BioSystems Pathways for RBPJ (see all 6) 
        Notch Signaling Pathway
    Neural Crest Differentiation
    Delta-Notch Signaling Pathway
    Presenilin action in Notch and Wnt signaling
    Notch signaling pathway

    5/17        Reactome Pathways for RBPJ (see all 17)
        Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants
    NOTCH1 Intracellular Domain Regulates Transcription
    FBXW7 Mutants and NOTCH1 in Cancer
    Notch-HLH transcription pathway
    Signaling by NOTCH1 HD Domain Mutants in Cancer


    1         Kegg Pathway  (Kegg details for RBPJ):
        Notch signaling pathway


    RBPJ for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for RBPJ

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/76 Interacting proteins for RBPJ (Q063301, 2, 3 ENSP000003452064) via UniProtKB, MINT, STRING, and/or I2D (see all 76)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    C12orf52Q96K302, 3, ENSP000002668134MINT-8094354 MINT-8150964 MINT-8094859 MINT-8094949 MINT-8094378 MINT-8094611 MINT-8150902 MINT-8094668 I2D: score=1 STRING: ENSP00000266813
    ATXN1LP0C7T52, 3, ENSP000004158224MINT-8184026 MINT-8184039 MINT-8176981 MINT-8184086 MINT-8177079 MINT-8177094 MINT-8177040 MINT-8184067 I2D: score=1 STRING: ENSP00000415822
    ATXN1P542532, 3, ENSP000002447694MINT-8184026 MINT-8184108 MINT-8177067 MINT-8176981 MINT-8184086 MINT-8177094 MINT-8177029 I2D: score=1 STRING: ENSP00000244769
    SNW1Q135731, 3, ENSP000002615314EBI-632552,EBI-632715 I2D: score=3 STRING: ENSP00000261531
    MAML1Q925852, 3, ENSP000002925994MINT-8177109 I2D: score=2 STRING: ENSP00000292599
    About this table

    Gene Ontology (GO): 5/29 biological process terms (GO ID links to tree view) (see all 29):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000122negative regulation of transcription from RNA polymerase II promoter ISS--
    GO:0001525angiogenesis ISS--
    GO:0001837epithelial to mesenchymal transition ISS--
    GO:0003151outflow tract morphogenesis ISS--
    GO:0003160endocardium morphogenesis ISS--


    RBPJ for ontologies           About GeneDecksing



    Drugs & Compounds
    for RBPJ gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    RBPJ for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for RBPJ
    1 Novoseek chemical compound relationship for RBPJ gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    zinc 0 6 17513037 (4), 10524257 (1), 11400158 (1)

    Search CenterWatch for drugs/clinical trials and news about RBPJ / SUH 

    Transcripts
    for RBPJ gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    REFSEQ mRNAs for RBPJ gene (4 alternative transcripts): 
    NM_005349.3  NM_015874.4  NM_203283.2  NM_203284.2  

    Unigene Cluster for RBPJ:

    Recombination signal binding protein for immunoglobulin kappa J region
    Hs.479396  [show with all ESTs]
    Unigene Representative Sequence: NM_203284
    18/31 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 31):
    ENST00000512351 ENST00000510778 ENST00000506956 ENST00000512671 ENST00000345843
    ENST00000361572 ENST00000514380(uc011bxt.2) ENST00000514807 ENST00000348160
    ENST00000509158 ENST00000513182 ENST00000511401 ENST00000515023 ENST00000505958
    ENST00000507561 ENST00000514730 ENST00000507574 ENST00000514675

    miRNA
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    8/19 QIAGEN miScript miRNA Assays for microRNAs that regulate RBPJ (see all 19):
    hsa-miR-320a hsa-miR-502-5p hsa-miR-300 hsa-miR-548m hsa-miR-133a hsa-miR-548x hsa-miR-497* hsa-miR-548am
    SwitchGear 3'UTR luciferase reporter plasmid: RBPJ 3' UTR sequence
    Inhib. RNA
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    Clone
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat RBPJ 
    Primer
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    Browse OriGene validated miRNA SYBR primer pairs
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat RBPJ
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat RBPJ

    Additional cDNA sequence: 

    AF086058.1 AK302230.1 AK303244.1 AK311419.1 BC020780.1 BC053531.1 BC053568.1 BC064976.1 
    L07872.1 L07875.1 L07876.1 Z36843.1 

    24/27 DOTS entries (see all 27):

    DT.92451307  DT.95082334  DT.97858369  DT.92451297  DT.448389  DT.95240069  DT.92451305  DT.95370169 
    DT.92451316  DT.121235589  DT.121235652  DT.92451318  DT.121235642  DT.92451322  DT.121235700  DT.312014 
    DT.121235607  DT.101981926  DT.75140379  DT.92025306  DT.95361706  DT.100797618  DT.121235597  DT.121235662 

    24/476 AceView cDNA sequences (see all 476):

    AA235124 BM856890 AA255428 AA234950 BM928544 BQ653366 BQ030041 AW341925 
    F33435 AA302729 BC053531 BM668328 AI375729 CR612633 AA243566 BQ942635 
    AA156663 BM928037 CR623063 BM555733 BE884239 AI312813 AL544062 BM834981 

    GeneLoc Exon Structure

    5/11 Alternative Splicing Database (ASD) splice patterns (SP) for RBPJ (see all 11)    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3a · 3b · 3c ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11a · 11b · 11c ^ 12a · 12b ^ 13a · 13b ^ 14a · 14b ^ 15 ^ 16a · 16b ^ 17 ^
    SP1:              -     -     -     -     -     -                 -     -     -                                   -                 -                           
    SP2:                                                              -     -     -                                   -                 -                           
    SP3:                                                                                                                                -                 -         
    SP4:                                      -                       -           -                                                                                 
    SP5:                                      -                       -     -     -                                                                                 

    ExUns: 18
    SP1:      
    SP2:      
    SP3:      
    SP4:      
    SP5:      


    ECgene alternative splicing isoforms for RBPJ

    Expression
    for RBPJ gene

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    RBPJ expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TCCAAAAGAA

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    RBPJ expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    10 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    CartilageCervical Intervertebral DiscIntervertebral Disc Nucleus Pulposus CellsCartilage
    CartilageLumbar Intervertebral DiscIntervertebral Disc Nucleus Pulposus CellsCartilage
    CartilageSacral Intervertebral DiscIntervertebral Disc Nucleus Pulposus CellsCartilage
    CartilageThoracic Intervertebral DiscIntervertebral Disc Nucleus Pulposus CellsCartilage
    HeartEndocardiumEndocardial CellsEndocardium
    KidneyAfferent ArterioleJuxtaglomerular CellsKidney, Smooth Muscle
    LungStem BronchiNon-neuroendocrine CellsLung
    PancreasDorsal Pancreatic BudPancreatic Progenitor CellsPancreas
    PancreasVentral Pancreatic BudPancreatic Progenitor CellsPancreas
    Primitive StreakNotochordNotochord CellsCartilage
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 1 LifeMap Cell 
    NameCategory
    ES04(HES-4) (Embryonic Stem Cell)Early Embryo, Inner Cell Mass

    See RBPJ Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for RBPJ

    SOURCE GeneReport for Unigene cluster: Hs.479396
        SABiosciences Expression via Pathway-Focused PCR Arrays including RBPJ: 
              Notch Signaling Targets in human mouse rat
              Nuclear Receptors & Coregulators in human mouse rat
              Hypoxia Signaling Pathway in human mouse rat
              Hematopoiesis in human mouse rat

    Primer
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    In Situ
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    Orthologs
    for RBPJ gene

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section
    This gene was present in the common ancestor of animals.

    Orthologs for RBPJ gene from 7/23 species (see all 23)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    mouse
    (Mus musculus)    		 Mammalia Rbpj1 , 5 recombination signal binding protein for immunoglobulin more1, 5 90.6(n)1
    97.8(a)1    		   5 (29.37 cM)5
    196641  NM_009035.41  NP_033061.31 
     535902155 
    chicken
    (Gallus gallus)    		 Aves RBPJ1 recombination signal binding protein for immunoglobulin more 87.08(n)
    96.67(a)    		   422802  XM_420752.3  XP_420752.2 
    lizard
    (Anolis carolinensis)    		 Reptilia RBPJ6
    		 --
    		 95(a)
    		 1 ↔ 1
    		 GL343348.1(551075-569488)
    African clawed frog
    (Xenopus laevis)    		 Amphibia Xl.29072 Xenopus laevis suppressor of hairless protein 1 (XSu(H)1) more 83.69(n)    U60093.1 
    zebrafish
    (Danio rerio)    		 Actinopterygii rbpsuh2 recombining binding protein suppressor of hairless more 79.43(n)   386772  AY128532.1 
    fruit fly
    (Drosophila melanogaster)    		 Insecta Su(H)1 Suppressor of Hairless 65.38(n)
    77.78(a)    		   34881  NM_057520.3  NP_476868.1 
    worm
    (Caenorhabditis elegans)    		 Secernentea lag-11 Protein LAG-1 59.95(n)
    61.89(a)    		   177373  NM_171350.3  NP_741410.1 


    ENSEMBL Gene Tree for RBPJ (if available)
    TreeFam Gene Tree for RBPJ (if available) 

    Paralogs
    for RBPJ gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for RBPJ gene
    RBPJL2  
    2 SIMAP similar genes for RBPJ using alignment to 18 protein entries:     SUH_HUMAN (see all proteins):
    KBF2    RBPJL

    RBPJ for paralogs           About GeneDecksing


    5 Pseudogenes.org Pseudogenes for RBPJ
    PGOHUM00000236070 PGOHUM00000236517 PGOHUM00000236531 PGOHUM00000236564 PGOHUM00000236571


    Genomic Variants
    for RBPJ gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for RBPJ
         1 CNV: 4383
    Human Gene Mutation Database (HGMD): RBPJ
    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing RBPJ
    DNA2.0 Custom Variant and Variant Library Synthesis for RBPJ

    Disorders / Diseases
    for RBPJ gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    RBPJ for disorders           About GeneDecksing

    OMIM gene information: 147183    OMIM disorders: --

    UniProtKB/Swiss-Prot: SUH_HUMAN, Q06330
  • Defects in RBPJ are the cause of Adams-Oliver syndrome 3 (AOS3) [MIM:614814]. An autosomal dominant form of
    • Adams-Oliver syndrome, a disorder characterized by the congenital absence of skin (aplasia cutis congenita) in
    combination with transverse limb defects. Aplasia cutis congenita can be located anywhere on the body, but in the vast
    majority of the cases, it is present on the posterior parietal region where it is often associated with an underlying
    defect of the parietal bones. Limb abnormalities are typically limb truncation defects affecting the distal phalanges
    or entire digits (true ectrodactyly). Only rarely, metatarsals/metacarpals or more proximal limb structures are also
    affected. Apart from transverse limb defects, syndactyly, most commonly of second and third toes, can also be
    observed. The clinical features are highly variable and can also include cardiovascular malformations, brain
    abnormalities and vascular defects such as cutis marmorata and dilated scalp veins. AOS3 patients manifest
    characteristic vertex scalp defects and terminal limb defects, but without congenital heart defects, other associated
    defects, or immune defects

    20/24 diseases for RBPJ (see all 24):    About MalaCards
    renal carcinoma    candida glabrata    carcinoma    alagille syndrome
    cadasil    mucoepidermoid carcinoma    hepatopulmonary syndrome    kaposi's sarcoma
    renal cell carcinoma    pulmonary hypertension    arteriosclerosis    rheumatoid arthritis
    lymphoblastic leukemia    liver disease    sarcoma    hypertension
    hepatocellular carcinoma    arthritis    gastric cancer    pancreatic cancer

    2 diseases from the University of Copenhagen DISEASES database for RBPJ:
    Kaposi's sarcoma     Cadasil

    2 Novoseek disease relationships for RBPJ gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    cancer 4.24 1 17284587 (1)
    tumors 0 1 18096813 (1)

    Human Genome Epidemiology (HuGE) Navigator: RBPJ (6 documents)

    Export disorders for RBPJ gene to outside databases

    Publications
    for RBPJ gene

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for RBPJ gene, integrated from 9 sources (see all 196):
    (articles sorted by number of sources associating them with RBPJ)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. Human Jk recombination signal binding protein gene (IGKJRB): comparison with its mouse homologue. (PubMed id 8406481)1, 2, 3 Amakawa R.... Honjo T. (1993)
    2. Structural basis for cooperativity in recruitment of MAML coactivators to Notch transcription complexes. (PubMed id 16530044)1, 2, 9 Nam Y.... Blacklow S.C. (2006)
    3. Assignment of the human gene for KBF2/RBP-Jk to chromosome 9p12-13 and 9q13 by fluorescence in situ hybridization. (PubMed id 9290259)1, 3, 9 Tang X.... Yokoyama K.K. (1997)
    4. RBPJ mutations identified in two families affected by Adams-Oliver syndrome. (PubMed id 22883147)1, 2 Hassed S.J.... Gaffney P.M. (2012)
    5. A SILAC-based screen for Methyl-CpG binding proteins identifies RBP-J as a DNA methylation and sequence-specific binding protein. (PubMed id 21991380)1, 2 Bartels S.J....Stunnenberg H.G. (2011)
    6. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    7. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    8. SHARP is a novel component of the Notch/RBP-Jkappa signalling pathway. (PubMed id 12374742)1, 2 Oswald F....Schmid R.M. (2002)
    9. A role for SKIP in EBNA2 activation of CBF1-repressed promoters. (PubMed id 10644367)1, 2 Zhou S....Hayward S.D. (2000)
    10. Intracellular forms of human NOTCH1 interact at distinctly different levels with RBP-jkappa in human B and T cells. (PubMed id 10637481)1, 2 Callahan J.... Robertson E.S. (2000)

    External Searches for RBPJ gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
    		PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing RBPJ gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 3516 HGNC: 5724 AceView: RBPSUH Ensembl:ENSG00000168214 euGenes: HUgn3516
    ECgene: RBPJ Kegg: 3516 H-InvDB: RBPJ

    Other Databases showing RBPJ gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing RBPJ gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for RBPJ Pharmacogenomics, SNPs, Pathways

    Intellectual Property
    for RBPJ gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		Patent Information for RBPJ gene:
    Search GeneIP for patents involving RBPJ

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    Products
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    About This Section

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