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

Gene ID: 3516, updated on 29-Mar-2020

Summary

Official Symbol
RBPJprovided by HGNC
Official Full Name
recombination signal binding protein for immunoglobulin kappa J regionprovided by HGNC
Primary source
HGNC:HGNC:5724
See related
Ensembl:ENSG00000168214 MIM:147183
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; AOS3; CBF1; KBF2; RBP-J; RBPJK; IGKJRB; RBPSUH; IGKJRB1
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. 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]
Expression
Ubiquitous expression in placenta (RPKM 17.3), endometrium (RPKM 16.0) and 25 other tissues See more
Orthologs

Genomic context

See RBPJ in Genome Data Viewer
Location:
4p15.2
Exon count:
19
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 4 NC_000004.12 (26163458..26435131)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (26165077..26436753)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 2357 Neighboring gene zinc finger protein 248 pseudogene Neighboring gene uncharacterized LOC105374541 Neighboring gene uncharacterized LOC105374545 Neighboring gene uncharacterized LOC105374542 Neighboring gene cholecystokinin A receptor Neighboring gene TBC1 domain family member 19

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Adams-Oliver syndrome 3
MedGen: C3553748 OMIM: 614814 GeneReviews: Adams-Oliver Syndrome
Compare labs

NHGRI GWAS Catalog

Description
Genome-wide association study meta-analysis identifies seven new rheumatoid arthritis risk loci.
NHGRI GWA Catalog
Novel rheumatoid arthritis susceptibility locus at 22q12 identified in an extended UK genome-wide association study.
NHGRI GWA Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC61669

Gene Ontology Provided by GOA

Function Evidence Code Pubs
DNA binding TAS
Traceable Author Statement
more info
PubMed 
DNA-binding transcription activator activity, RNA polymerase II-specific IDA
Inferred from Direct Assay
more info
PubMed 
DNA-binding transcription factor activity TAS
Traceable Author Statement
more info
PubMed 
DNA-binding transcription factor activity, RNA polymerase II-specific ISA
Inferred from Sequence Alignment
more info
 
DNA-binding transcription factor activity, RNA polymerase II-specific ISM
Inferred from Sequence Model
more info
PubMed 
RNA polymerase II proximal promoter sequence-specific DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
RNA polymerase II repressing transcription factor binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
RNA polymerase II repressing transcription factor binding IPI
Inferred from Physical Interaction
more info
PubMed 
chromatin binding IEA
Inferred from Electronic Annotation
more info
 
protein N-terminus binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
repressing transcription factor binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
repressing transcription factor binding IPI
Inferred from Physical Interaction
more info
PubMed 
sequence-specific DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
sequence-specific DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
transcription factor binding IDA
Inferred from Direct Assay
more info
PubMed 
transcription factor binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
B cell differentiation IEA
Inferred from Electronic Annotation
more info
 
Clara cell differentiation IEA
Inferred from Electronic Annotation
more info
 
Notch signaling involved in heart development IC
Inferred by Curator
more info
PubMed 
Notch signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Notch signaling pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
Notch signaling pathway TAS
Traceable Author Statement
more info
 
angiogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
aortic valve development IEA
Inferred from Electronic Annotation
more info
 
arterial endothelial cell fate commitment IEA
Inferred from Electronic Annotation
more info
 
atrioventricular canal development ISS
Inferred from Sequence or Structural Similarity
more info
 
auditory receptor cell fate commitment IEA
Inferred from Electronic Annotation
more info
 
blood vessel endothelial cell fate specification ISS
Inferred from Sequence or Structural Similarity
more info
 
blood vessel lumenization ISS
Inferred from Sequence or Structural Similarity
more info
 
blood vessel remodeling IEA
Inferred from Electronic Annotation
more info
 
cardiac left ventricle morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
defense response to bacterium IEA
Inferred from Electronic Annotation
more info
 
dorsal aorta morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
endocardium morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
epidermal cell fate specification IEA
Inferred from Electronic Annotation
more info
 
epithelial to mesenchymal transition ISS
Inferred from Sequence or Structural Similarity
more info
 
epithelial to mesenchymal transition involved in endocardial cushion formation ISS
Inferred from Sequence or Structural Similarity
more info
 
hair follicle maturation IEA
Inferred from Electronic Annotation
more info
 
humoral immune response IEA
Inferred from Electronic Annotation
more info
 
inflammatory response to antigenic stimulus IEA
Inferred from Electronic Annotation
more info
 
interleukin-4 secretion IEA
Inferred from Electronic Annotation
more info
 
keratinocyte differentiation IEA
Inferred from Electronic Annotation
more info
 
labyrinthine layer blood vessel development ISS
Inferred from Sequence or Structural Similarity
more info
 
myeloid dendritic cell differentiation IEA
Inferred from Electronic Annotation
more info
 
negative regulation of cell differentiation IEA
Inferred from Electronic Annotation
more info
 
negative regulation of cell proliferation IEA
Inferred from Electronic Annotation
more info
 
negative regulation of cold-induced thermogenesis ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
negative regulation of ossification ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
negative regulation of transcription by RNA polymerase II IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of transcription by RNA polymerase II ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of transcription, DNA-templated IDA
Inferred from Direct Assay
more info
PubMed 
outflow tract morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
pituitary gland development IEA
Inferred from Electronic Annotation
more info
 
positive regulation of BMP signaling pathway ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of ERBB signaling pathway ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of Notch signaling pathway TAS
Traceable Author Statement
more info
 
positive regulation of canonical Wnt signaling pathway involved in cardiac muscle cell fate commitment IEA
Inferred from Electronic Annotation
more info
 
positive regulation of cardiac muscle cell proliferation ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of cell proliferation involved in heart morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of ephrin receptor signaling pathway ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of gene expression ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of transcription by RNA polymerase II IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of transcription from RNA polymerase II promoter in response to hypoxia IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of transcription of Notch receptor target IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of transcription of Notch receptor target TAS
Traceable Author Statement
more info
 
pulmonary valve development IEA
Inferred from Electronic Annotation
more info
 
regulation of timing of cell differentiation IEA
Inferred from Electronic Annotation
more info
 
regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
sebaceous gland development IEA
Inferred from Electronic Annotation
more info
 
secondary heart field specification IEA
Inferred from Electronic Annotation
more info
 
somatic stem cell population maintenance IEA
Inferred from Electronic Annotation
more info
 
somitogenesis IEA
Inferred from Electronic Annotation
more info
 
transcription initiation from RNA polymerase II promoter TAS
Traceable Author Statement
more info
 
ventricular septum morphogenesis IEA
Inferred from Electronic Annotation
more info
 
ventricular trabecula myocardium morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
MAML1-RBP-Jkappa- ICN1 complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
MAML1-RBP-Jkappa- ICN1 complex IDA
Inferred from Direct Assay
more info
PubMed 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
nuclear chromatin ISA
Inferred from Sequence Alignment
more info
 
nucleolus IDA
Inferred from Direct Assay
more info
PubMed 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
transcription factor complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
transcriptional repressor complex IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

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

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_001363577.2NP_001350506.1  recombining binding protein suppressor of hairless isoform 5

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (5) is shorter at the N-terminus compared to isoform 1.
    Source sequence(s)
    AC093637, AC097109
    Consensus CDS
    CCDS87214.1
    Related
    ENSP00000423907.1, ENST00000507561.5
    Conserved Domains (3) summary
    cd01176
    Location:315411
    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:144293
    BTD; Beta-trefoil DNA-binding domain
    pfam09271
    Location:13142
    LAG1-DNAbind; LAG1, DNA binding
  2. NM_001374400.1NP_001361329.1  recombining binding protein suppressor of hairless isoform 1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6), as well as variant 1, encodes isoform 1.
    Source sequence(s)
    AC093637, AC097109
    Related
    ENSP00000354528.6, ENST00000361572.10
  3. NM_001374401.1NP_001361330.1  recombining binding protein suppressor of hairless isoform 4

    Status: REVIEWED

    Description
    Transcript Variant: This variant (7), as well as variants 4, 8, and 9, encodes isoform 4.
    Source sequence(s)
    AC093637, AC097109, AC097714
  4. NM_001374402.1NP_001361331.1  recombining binding protein suppressor of hairless isoform 4

    Status: REVIEWED

    Description
    Transcript Variant: This variant (8), as well as variants 4, 7, and 9, encodes isoform 4.
    Source sequence(s)
    AC093637, AC097109
    Related
    ENSP00000340124.4, ENST00000342320.8
  5. NM_001374403.1NP_001361332.1  recombining binding protein suppressor of hairless isoform 4

    Status: REVIEWED

    Description
    Transcript Variant: This variant (9), as well as variants 4, 7, and 8, encodes isoform 4.
    Source sequence(s)
    AC093637, AC097109
  6. NM_005349.3NP_005340.2  recombining binding protein suppressor of hairless isoform 1

    See identical proteins and their annotated locations for NP_005340.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1). Variants 1 and 6 both encode the same isoform (1).
    Source sequence(s)
    AC093637, AC097109, BC020780, BC064976, BM680668, L07872
    Consensus CDS
    CCDS3437.1
    UniProtKB/Swiss-Prot
    Q06330
    Related
    ENSP00000345206.1, ENST00000342295.5
    Conserved Domains (3) summary
    cd01176
    Location:350446
    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
    BTD; Beta-trefoil DNA-binding domain
    pfam09271
    Location:48177
    LAG1-DNAbind; LAG1, DNA binding
  7. NM_015874.4NP_056958.3  recombining binding protein suppressor of hairless isoform 2

    See identical proteins and their annotated locations for NP_056958.3

    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
    ENSP00000339699.4, ENST00000348160.8
    Conserved Domains (3) summary
    cd01176
    Location:337433
    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
    BTD; Beta-trefoil DNA-binding domain
    pfam09271
    Location:35164
    LAG1-DNAbind; LAG1, DNA binding
  8. NM_203283.3NP_976028.1  recombining binding protein suppressor of hairless isoform 3

    See identical proteins and their annotated locations for NP_976028.1

    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
    ENSP00000305815.5, ENST00000345843.7
    Conserved Domains (3) summary
    cd01176
    Location:335431
    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
    BTD; Beta-trefoil DNA-binding domain
    pfam09271
    Location:33162
    LAG1-DNAbind; LAG1, DNA binding
  9. NM_203284.2NP_976029.1  recombining binding protein suppressor of hairless isoform 4

    See identical proteins and their annotated locations for NP_976029.1

    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. Variants 4, 7, 8, and 9 all encode the same isoform (4).
    Source sequence(s)
    AC093637, BC020780, BC064976, BM680668, DC389691
    Consensus CDS
    CCDS33969.1
    UniProtKB/Swiss-Prot
    Q06330
    Related
    ENSP00000347659.3, ENST00000355476.7
    Conserved Domains (3) summary
    cd01176
    Location:336432
    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
    BTD; Beta-trefoil DNA-binding domain
    pfam09271
    Location:34163
    LAG1-DNAbind; LAG1, DNA binding

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p13 Primary Assembly

    Range
    26163458..26435131
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017008170.2XP_016863659.1  recombining binding protein suppressor of hairless isoform X1

    Conserved Domains (3) summary
    cd01176
    Location:356452
    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:185334
    BTD; Beta-trefoil DNA-binding domain
    pfam09271
    Location:54183
    LAG1-DNAbind; LAG1, DNA binding
  2. XM_024454032.1XP_024309800.1  recombining binding protein suppressor of hairless isoform X3

    Conserved Domains (3) summary
    cd01176
    Location:336432
    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
    BTD; Beta-trefoil DNA-binding domain
    pfam09271
    Location:34163
    LAG1-DNAbind; LAG1, DNA binding
  3. XM_017008175.2XP_016863664.1  recombining binding protein suppressor of hairless isoform X3

    UniProtKB/Swiss-Prot
    Q06330
    Conserved Domains (3) summary
    cd01176
    Location:336432
    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
    BTD; Beta-trefoil DNA-binding domain
    pfam09271
    Location:34163
    LAG1-DNAbind; LAG1, DNA binding
  4. XM_017008174.2XP_016863663.1  recombining binding protein suppressor of hairless isoform X3

    UniProtKB/Swiss-Prot
    Q06330
    Conserved Domains (3) summary
    cd01176
    Location:336432
    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
    BTD; Beta-trefoil DNA-binding domain
    pfam09271
    Location:34163
    LAG1-DNAbind; LAG1, DNA binding
  5. XM_011513840.3XP_011512142.1  recombining binding protein suppressor of hairless isoform X3

    See identical proteins and their annotated locations for XP_011512142.1

    UniProtKB/Swiss-Prot
    Q06330
    Conserved Domains (3) summary
    cd01176
    Location:336432
    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
    BTD; Beta-trefoil DNA-binding domain
    pfam09271
    Location:34163
    LAG1-DNAbind; LAG1, DNA binding
  6. XM_017008171.2XP_016863660.1  recombining binding protein suppressor of hairless isoform X2

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