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    RBPJ recombination signal binding protein for immunoglobulin kappa J region [ Homo sapiens ]

    Gene ID: 3516, updated on 19-May-2012

    Summary

    Official Symbol
    RBPJprovided by HGNC
    Official Full Name
    recombination signal binding protein for immunoglobulin kappa J regionprovided by HGNC
    Primary source
    HGNC:5724
    See related
    Ensembl:ENSG00000168214; HPRD:00920; MIM:147183; Vega:OTTHUMG00000097793
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    SUH; csl; CBF1; KBF2; RBP-J; RBPJK; IGKJRB; RBPSUH; IGKJRB1; MGC61669
    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]

    Genomic context

    Location :
    4p15.2
    Sequence :
    Chromosome: 4; NC_000004.11 (26321332..26433278)
    See RBPJ in Epigenomics, MapViewer

    Chromosome 4 - NC_000004.11Genomic Context describing neighboring genes Neighboring gene chromosome 4 open reading frame 52 Neighboring gene zinc finger protein 248 pseudogene Neighboring gene cholecystokinin A receptor Neighboring gene TBC1 domain family, member 19

    Genomic regions, transcripts, and products

    Bibliography

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description
    NP_005340.2 NP_001440.2 FHL1    BIND  PubMed KyoT interacts with RBP-J. This interaction was modeled on a demonstrated interaction between KyoT and RBP-J, both from unspecified species. 
    NP_005340.2 NP_039869.1 HHV4gp086    BIND  PubMed EBNA-3C interacts with J-kappa-1. 
    NP_005340.2 CAB63940.1     BIND  PubMed RPMS1 interacts with CBF1. 
    NP_005340.2 CAD53419.1     BIND  PubMed EBNA-3A interacts with J-kappa-1. 
    NP_056958.3 NP_039869.1 HHV4gp086    BIND  PubMed EBNA-3C interacts with RBP-2N. 
    Q06330 CBF1 interacting corepressor CIR1    HPRD  PubMed  
    Q06330 Q13642 FHL1    HPRD  PubMed  
    Q06330 Q13547 HDAC1    HPRD  PubMed  
    Q06330 P09429 HMGB1    HPRD  PubMed  
    Q06330 Q92831 KAT2B    HPRD  PubMed  
    Q06330 Q92585 MAML1    HPRD  PubMed  
    Q06330 O75376 NCOR1    HPRD  PubMed  
    Q06330 Q9Y618 NCOR2    HPRD  PubMed  
    Q06330 P46531 NOTCH1    HPRD  PubMed  
    Q06330 Q04721 NOTCH2    HPRD  PubMed  
    Q06330 Q9UM47 NOTCH3    HPRD  PubMed  
    Q06330 Q99466 NOTCH4    HPRD  PubMed  
    Q06330 Q7KZF4 SND1    HPRD  PubMed  
    Q06330 Q13573 SNW1    HPRD  PubMed  
    Q06330 Q96T58 SPEN    HPRD  PubMed  
    Q06330 Q9UMX1 SUFU    HPRD  PubMed  
    BioGRID:109736 BioGRID:114916 CIR1    BioGRID  PubMed Two-hybrid 
    BioGRID:109736 BioGRID:108014 GADD45A    BioGRID  PubMed Two-hybrid 
    BioGRID:109736 BioGRID:109187 GSK3B    BioGRID  PubMed Two-hybrid 
    BioGRID:109736 BioGRID:67421 H    BioGRID  PubMed Reconstituted Complex 
    NC_000003.9 HES1    BIND  PubMed HES1 promoter interacts with CBF1. 
    BioGRID:109736 BioGRID:108918 KAT2A    BioGRID  PubMed Two-hybrid 
    BioGRID:109736 BioGRID:114375 KAT2B    BioGRID  PubMed Affinity Capture-Western; Two-hybrid 
    BioGRID:109736 BioGRID:111862 KDM5A    BioGRID  PubMed Affinity Capture-Western; Co-purification; Reconstituted Complex 
    BioGRID:109736 BioGRID:110368 MECP2    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:109736 BioGRID:114974 NCOR2    BioGRID  PubMed Two-hybrid 
    BioGRID:109736 BioGRID:110913 NOTCH1    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex 
    BioGRID:109736 BioGRID:110915 NOTCH2    BioGRID  PubMed Two-hybrid 
    BioGRID:109736 BioGRID:118144 RPS6KA6    BioGRID  PubMed Two-hybrid 
    BioGRID:109736 BioGRID:107312 RUNX3    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:109736 BioGRID:117439 SIN3A    BioGRID  PubMed Reconstituted Complex 
    BioGRID:109736 BioGRID:117974 SND1    BioGRID  PubMed Two-hybrid 
    BioGRID:109736 BioGRID:116597 SNW1    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex; Two-hybrid 
    BioGRID:109736 BioGRID:116655 SPEN    BioGRID  PubMed Reconstituted Complex 
    BioGRID:109736 BioGRID:60002 lid    BioGRID  PubMed Reconstituted Complex 

    General gene information

    Markers

    Homology

    Pathways from BioSystems

    • Delta-Notch Signaling Pathway, organism-specific biosystem (from WikiPathways)
      Delta-Notch Signaling Pathway, organism-specific biosystemThere are 4 Notch receptors in humans (Notch 1-4) that bind to a family of 5 ligands (Jagged 1 and 2 and Delta-like 1-3). The Notch receptors are expressed on the cell surface as heterodimeric protei...
    • Developmental Biology, organism-specific biosystem (from REACTOME)
      Developmental Biology, organism-specific biosystemAs a first step towards capturing the array of processes by which a fertilized egg gives rise to the diverse tissues of the body, examples of three kinds of processes have been annotated. These are a...
    • Epstein-Barr virus infection, organism-specific biosystem (from KEGG)
      Epstein-Barr virus infection, organism-specific biosystemEpstein-Barr virus (EBV) is a ubiquitous human herpesvirus that is associated with oncogenesis. EBV infection to primary human B lymphocytes leads to induction of EBV-specific HLA-restricted cytotoxi...
    • Epstein-Barr virus infection, conserved biosystem (from KEGG)
      Epstein-Barr virus infection, conserved biosystemEpstein-Barr virus (EBV) is a ubiquitous human herpesvirus that is associated with oncogenesis. EBV infection to primary human B lymphocytes leads to induction of EBV-specific HLA-restricted cytotoxi...
    • Gene Expression, organism-specific biosystem (from REACTOME)
      Gene Expression, organism-specific biosystemGene Expression covers the pathways by which genomic DNA is transcribed to yield RNA, the regulation of these transcription processes, and the pathways by which newly-made RNA Transcripts are process...
    • Generic Transcription Pathway, organism-specific biosystem (from REACTOME)
      Generic Transcription Pathway, organism-specific biosystemOVERVIEW OF TRANSCRIPTION REGULATION: Detailed studies of gene transcription regulation in a wide variety of eukaryotic systems has revealed the general principles and mechanisms by which cell- or t...
    • NOTCH1 Intracellular Domain Regulates Transcription, organism-specific biosystem (from REACTOME)
      NOTCH1 Intracellular Domain Regulates Transcription, organism-specific biosystemNICD1 produced by activation of NOTCH1 in response to Delta and Jagged ligands (DLL/JAG) presented in trans, traffics to the nucleus where it acts as a transcription regulator. In the nucleus, NICD1 ...
    • Notch Signaling Pathway, organism-specific biosystem (from WikiPathways)
      Notch Signaling Pathway, organism-specific biosystemThe Notch signaling pathway is an evolutionarily conserved, intercellular signaling mechanism essential for proper embryonic development in all metazoan organisms in the Animal kingdom. The Notch pro...
    • Notch signaling pathway, organism-specific biosystem (from KEGG)
      Notch signaling pathway, organism-specific biosystemThe Notch signaling pathway is an evolutionarily conserved, intercellular signaling mechanism essential for proper embryonic development in all metazoan organisms in the Animal kingdom. The Notch pro...
    • Notch signaling pathway, organism-specific biosystem (from Pathway Interaction Database)
      Notch signaling pathway, organism-specific biosystem
      Notch signaling pathway
    • Notch signaling pathway, conserved biosystem (from KEGG)
      Notch signaling pathway, conserved biosystemThe Notch signaling pathway is an evolutionarily conserved, intercellular signaling mechanism essential for proper embryonic development in all metazoan organisms in the Animal kingdom. The Notch pro...
    • Notch-HLH transcription pathway, organism-specific biosystem (from REACTOME)
      Notch-HLH transcription pathway, organism-specific biosystemTHE NOTCH-HLH TRANSCRIPTION PATHWAY: Notch signaling was first identified in Drosophila, where it has been studied in detail at the genetic, molecular, biochemical and cellular levels (reviewed in ...
    • Notch-mediated HES/HEY network, organism-specific biosystem (from Pathway Interaction Database)
      Notch-mediated HES/HEY network, organism-specific biosystem
      Notch-mediated HES/HEY network
    • Presenilin action in Notch and Wnt signaling, organism-specific biosystem (from Pathway Interaction Database)
      Presenilin action in Notch and Wnt signaling, organism-specific biosystem
      Presenilin action in Notch and Wnt signaling
    • Regulation of beta-cell development, organism-specific biosystem (from REACTOME)
      Regulation of beta-cell development, organism-specific biosystemThe normal development of the pancreas during gestation has been intensively investigated over the past decade especially in the mouse (Servitja and Ferrer 2004; Chakrabarti and Mirmira 2003). Studie...
    • Regulation of gene expression in late stage (branching morphogenesis) pancreatic bud precursor cells, organism-specific biosystem (from REACTOME)
      Regulation of gene expression in late stage (branching morphogenesis) pancreatic bud precursor cells, organism-specific biosystemThe properties of transcriptional networks in late stage (branching morphogenesis) pancreatic bud precursor cells are inferred from the properties of well-studied networks in mouse models. In mice, c...
    • Signal Transduction, organism-specific biosystem (from REACTOME)
      Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
    • Signaling by NOTCH, organism-specific biosystem (from REACTOME)
      Signaling by NOTCH, organism-specific biosystemThe Notch Signaling Pathway (NSP) is a highly conserved pathway for cell-cell communication. NSP is involved in the regulation of cellular differentiation, proliferation, and specification. For exam...
    • Signaling by NOTCH1, organism-specific biosystem (from REACTOME)
      Signaling by NOTCH1, organism-specific biosystemNOTCH1 functions as both a transmembrane receptor presented on the cell surface and as a transcriptional regulator in the nucleus.NOTCH1 receptor presented on the plasma membrane is activated by a me...

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    DNA recombination NAS
    Non-traceable Author Statement
    more info
    PubMed 
    Notch signaling pathway TAS
    Traceable Author Statement
    more info
     
    gene expression TAS
    Traceable Author Statement
    more info
     
    negative regulation of transcription, DNA-dependent IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of transcription of Notch receptor target IDA
    Inferred from Direct Assay
    more info
     
    regulation of transcription, DNA-dependent TAS
    Traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    MAML1-RBP-Jkappa- ICN1 complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytoplasm IDA
    Inferred from Direct Assay
    more info
     
    nucleolus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nucleoplasm TAS
    Traceable Author Statement
    more info
     
    nucleus IDA
    Inferred from Direct Assay
    more info
     

    General protein information

    Preferred Names
    recombining binding protein suppressor of hairless
    Names
    recombining binding protein suppressor of hairless
    CBF-1
    RBP-JK
    RBP-J kappa
    H-2K binding factor-2
    suppressor of hairless homolog
    renal carcinoma antigen NY-REN-30
    immunoglobulin kappa J region recombination signal binding protein 1

    NCBI Reference Sequences (RefSeq)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_030343.1 RefSeqGene

      Range
      5001..120422
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_005349.3NP_005340.2  recombining binding protein suppressor of hairless isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AC093637, AC097109, BC020780, BC064976, BM680668, L07872
      Consensus CDS
      CCDS3437.1
      UniProtKB/Swiss-Prot
      Q06330
      Related
      ENSP00000345206, ENST00000342295
      Conserved Domains (3) summary
      cd01176
      Location:358446
      Blast Score: 456
      IPT_RBP-Jkappa; IPT domain of the recombination signal Jkappa binding protein (RBP-Jkappa). RBP-J kappa, was initially considered to be involved in V(D)J recombination because of its DNA binding specificity and structural similarity to site-specific recombinases known ...
      pfam09270
      Location:179328
      Blast Score: 651
      BTD; Beta-trefoil DNA-binding domain
      pfam09271
      Location:47178
      Blast Score: 552
      LAG1-DNAbind; LAG1, DNA binding
    2. NM_015874.4NP_056958.3  recombining binding protein suppressor of hairless isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (2) has a shorter and distinct N-terminus compared to isoform 1.
      Source sequence(s)
      AC093637, BC064976, BM680668, DC361185
      Consensus CDS
      CCDS43219.1
      UniProtKB/Swiss-Prot
      Q06330
      Related
      ENSP00000339699, OTTHUMP00000218678, ENST00000348160, OTTHUMT00000361631
      Conserved Domains (3) summary
      cd01176
      Location:345433
      Blast Score: 454
      IPT_RBP-Jkappa; IPT domain of the recombination signal Jkappa binding protein (RBP-Jkappa). RBP-J kappa, was initially considered to be involved in V(D)J recombination because of its DNA binding specificity and structural similarity to site-specific recombinases known ...
      pfam09270
      Location:166315
      Blast Score: 652
      BTD; Beta-trefoil DNA-binding domain
      pfam09271
      Location:34165
      Blast Score: 552
      LAG1-DNAbind; LAG1, DNA binding
    3. NM_203283.2NP_976028.1  recombining binding protein suppressor of hairless isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks an alternate 5' exon compared to variant 1. The resulting isoform (3) has a shorter and distinct N-terminus compared to isoform 1.
      Source sequence(s)
      AC093637, BC020780, BC064976, BM680668
      Consensus CDS
      CCDS3436.1
      UniProtKB/Swiss-Prot
      Q06330
      Related
      ENSP00000305815, OTTHUMP00000123439, ENST00000345843, OTTHUMT00000215045
      Conserved Domains (3) summary
      cd01176
      Location:343431
      Blast Score: 456
      IPT_RBP-Jkappa; IPT domain of the recombination signal Jkappa binding protein (RBP-Jkappa). RBP-J kappa, was initially considered to be involved in V(D)J recombination because of its DNA binding specificity and structural similarity to site-specific recombinases known ...
      pfam09270
      Location:164313
      Blast Score: 651
      BTD; Beta-trefoil DNA-binding domain
      pfam09271
      Location:32163
      Blast Score: 551
      LAG1-DNAbind; LAG1, DNA binding
    4. NM_203284.2NP_976029.1  recombining binding protein suppressor of hairless isoform 4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (4) has a shorter and distinct N-terminus compared to isoform 1.
      Source sequence(s)
      AC093637, BC020780, BC064976, BM680668, DC389691
      Consensus CDS
      CCDS33969.1
      UniProtKB/Swiss-Prot
      Q06330
      Related
      ENSP00000347659, ENST00000355476
      Conserved Domains (3) summary
      cd01176
      Location:344432
      Blast Score: 456
      IPT_RBP-Jkappa; IPT domain of the recombination signal Jkappa binding protein (RBP-Jkappa). RBP-J kappa, was initially considered to be involved in V(D)J recombination because of its DNA binding specificity and structural similarity to site-specific recombinases known ...
      pfam09270
      Location:165314
      Blast Score: 651
      BTD; Beta-trefoil DNA-binding domain
      pfam09271
      Location:33164
      Blast Score: 551
      LAG1-DNAbind; LAG1, DNA binding

    RefSeqs of Annotated Genomes: Build 37.3

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh37.p5 Primary Assembly

    Genomic

    1. NC_000004.11 Reference GRCh37.p5 Primary Assembly

      Range
      26321332..26433278
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000136.1 Alternate HuRef

      Range
      25659979..25771588
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Related Sequences

    Nucleotide Protein
    Heading Accession and Version
    genomic AC093637.5 None
    genomic AC097109.4 (52690..122828) None
    genomic CH471069.1 EAW92846.1
      EAW92847.1
      EAW92848.1
      EAW92849.1
    genomic L08904.1 AAA91836.1
    mRNA AK056944.1 None
    mRNA AK126357.1 None
    mRNA AK302230.1 BAG63584.1
    mRNA AK303244.1 BAH13924.1
    mRNA AK311419.1 None
    mRNA AL600045.1 None
    mRNA BC020780.1 AAH20780.1
    mRNA BC053531.1 None
    mRNA BC053568.1 None
    mRNA BC064976.1 AAH64976.1
    mRNA BE269143.1 None
    mRNA BM472788.1 None
    mRNA BM555733.1 None
    mRNA BM560796.1 None
    mRNA BM680668.1 None
    mRNA BQ216033.1 None
    mRNA CD653684.1 None
    mRNA D14041.1 BAA21773.1
    mRNA DC361185.1 None
    mRNA DC389691.1 None
    mRNA L07872.1 AAA60258.1
    mRNA L07874.1 AAA16253.1
    mRNA L07875.1 AAA16254.1
    mRNA L07876.1 AAA16356.1
    mRNA Z36843.1 None
    other-genetic EU446485.1 ABZ92014.1
    other-genetic EU832795.1 ACE87806.1
    other-genetic GQ129335.1 ACT64469.1
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q06330.3 GenPept UniProtKB/Swiss-Prot:Q06330
    Q14663 GenPept UniProtKB/TrEMBL:Q14663

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