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

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; 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; 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: mouse all

Genomic context

Location:: 4p15.2

Exon count:: 17

Annotation release	Status	Assembly	Chr	Location
109	current	GRCh38.p12 (GCF_000001405.38)	4	NC_000004.12 (26163489..26435131)
105	previous assembly	GRCh37.p13 (GCF_000001405.25)	4	NC_000004.11 (26165077..26436753)

Chromosome 4 - NC_000004.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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 Jun 15 11:32:44 2016

Bibliography

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GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Variants rs2270226 and rs2077777 in the RBPJ gene were associated with the risk of cerebral infarction diseases in the Chinese Han population.
Title: RBPJ polymorphisms associated with cerebral infarction diseases in Chinese Han population: A Clinical Trial/Experimental Study (CONSORT Compliant).
RBPJ and MAML3 could be new therapeutic targets for SCLC.
Title: RBPJ and MAML3: Potential Therapeutic Targets for Small Cell Lung Cancer.
The ULK3 Kinase Is Critical for Convergent Control of Cancer-Associated Fibroblast Activation by CSL and GLI
Title: The ULK3 Kinase Is Critical for Convergent Control of Cancer-Associated Fibroblast Activation by CSL and GLI.
Notch1 signaling plays an important role in the maintenance of the cancer stem-like phenotype in diffuse type gastric cancer through an RBP-Jkappa dependent pathway; inhibiting Notch1 signaling could be an effective therapy against CD133 positive diffuse type gastric cancers
Title: Notch1 directly induced CD133 expression in human diffuse type gastric cancers.
We show that GIT1, which also contains an ANK domain, inhibits the Notch1-Dll4 signaling pathway by competing with Notch1 ANK domain for binding to RBP-J in stalk cells
Title: G-Protein-Coupled Receptor-2-Interacting Protein-1 Controls Stalk Cell Fate by Inhibiting Delta-like 4-Notch1 Signaling.
we report that genetic removal of CSL in breast tumor cells caused accelerated growth of xenografted tumors. Loss of CSL unleashed a hypoxic response during normoxic conditions, manifested by stabilization of the HIF1alpha protein and acquisition of a polyploid giant-cell, cancer stem cell-like, phenotype.
Title: Loss of CSL Unlocks a Hypoxic Response and Enhanced Tumor Growth Potential in Breast Cancer Cells.
RBPJ interacts with L3MBTL3 to promote repression of Notch signaling via histone demethylase KDM1A.
Title: RBPJ/CBF1 interacts with L3MBTL3/MBT1 to promote repression of Notch signaling via histone demethylase KDM1A/LSD1.
RBPJ links MYC and transcriptional control through CDK9 in brain tumors, providing potential nodes of fragility for therapeutic intervention, potentially distinct from NOTCH
Title: RBPJ maintains brain tumor-initiating cells through CDK9-mediated transcriptional elongation.
Mean CBF1 expression is significantly increased in isocitrate dehydrogenase 1 (IDH1) R132H mutant glioblastoma. Hypoxic regions of glioblastoma have higher CBF1 activation and exposure to low oxygen can induce its expression in glioma cells in vitro.
Title: CBF1 is clinically prognostic and serves as a target to block cellular invasion and chemoresistance of EMT-like glioblastoma cells.
structural and biophysical studies demonstrate that RITA binds RBP-J similarly to the RAM (RBP-J-associated molecule) domain of Notch, our biochemical and cellular assays suggest that RITA interacts with additional regions in RBP-J.
Title: Structure-function analysis of RBP-J-interacting and tubulin-associated (RITA) reveals regions critical for repression of Notch target genes.

Submit: New GeneRIF Correction See all GeneRIFs (84)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

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 NHGRI GWA CatalogPubMed
Novel rheumatoid arthritis susceptibility locus at 22q12 identified in an extended UK genome-wide association study. NHGRI GWA Catalog NHGRI GWA CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Pathways from BioSystems

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Canonical and Non-canonical Notch signaling, organism-specific biosystem (from WikiPathways)
Canonical and Non-canonical Notch signaling, organism-specific biosystemThis pathway is based on figure 1 of "Alteration of Notch signaling in skeletal development and disease" (see bibliography). In the NOTCH signaling pathway, mammals have 11 ligands (JAG, DLL, DLK, et...
Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants, organism-specific biosystem (from REACTOME)
Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants, organism-specific biosystemWhen found in cis, HD and PEST domain mutations act synergistically, increasing NOTCH1 transcriptional activity up to ~40-fold, compared with up to ~10-fold and up to ~2-fold increase with HD mutatio...
Constitutive Signaling by NOTCH1 PEST Domain Mutants, organism-specific biosystem (from REACTOME)
Constitutive Signaling by NOTCH1 PEST Domain Mutants, organism-specific biosystemAs NOTCH1 PEST domain is intracellular, NOTCH1 PEST domain mutants are expected to behave as the wild-type NOTCH1 with respect to ligand binding and proteolytic cleavage mediated activation of signal...
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...
Disease, organism-specific biosystem (from REACTOME)
Disease, organism-specific biosystemBiological processes are captured in Reactome by identifying the molecules (DNA, RNA, protein, small molecules) involved in them and describing the details of their interactions. From this molecular ...
Diseases of signal transduction, organism-specific biosystem (from REACTOME)
Diseases of signal transduction, organism-specific biosystemSignaling processes are central to human physiology (e.g., Pires-da Silva & Sommer 2003), and their disruption by either germ-line and somatic mutation can lead to serious disease. Here, the molecula...
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 ...
NOTCH2 intracellular domain regulates transcription, organism-specific biosystem (from REACTOME)
NOTCH2 intracellular domain regulates transcription, organism-specific biosystemIn the nucleus, NICD2 forms a complex with RBPJ (CBF1, CSL) and MAML (mastermind). NICD2:RBPJ:MAML complex activates transcription from RBPJ-binding promoter elements (RBEs) (Wu et al. 2000). Besides...
Neural Crest Differentiation, organism-specific biosystem (from WikiPathways)
Neural Crest Differentiation, organism-specific biosystemGene regulatory network model of cranial neural crest cell (CNCC) development, adaped from PMID: 19575671. Most interactions in the model are proposed to regulate transcription of core factors involv...
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 WikiPathways)
Notch Signaling Pathway, organism-specific biosystemThe Notch pathway is an evolutionally conserved signaling pathway which plays an important role in diverse developmental and physiological processes. These include cell-fate determination, tissue pat...
Notch signaling, organism-specific biosystem (from KEGG)
Notch signaling, organism-specific biosystemFunctional set; Cellular processes; Cell signaling
Notch signaling, conserved biosystem (from KEGG)
Notch signaling, conserved biosystemFunctional set; Cellular processes; Cell signaling
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
Pre-NOTCH Expression and Processing, organism-specific biosystem (from REACTOME)
Pre-NOTCH Expression and Processing, organism-specific biosystemIn humans and other mammals the NOTCH gene family has four members, NOTCH1, NOTCH2, NOTCH3 and NOTCH4, encoded on four different chromosomes. Their transcription is developmentally regulated and tiss...
Pre-NOTCH Transcription and Translation, organism-specific biosystem (from REACTOME)
Pre-NOTCH Transcription and Translation, organism-specific biosystemIn humans, the NOTCH protein family has four members: NOTCH1, NOTCH2, NOTCH3 and NOTCH4. NOTCH1 protein was identified first, as the product of a chromosome 9 gene translocated in T-cell acute lympho...
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...
Signaling by NOTCH1 HD+PEST Domain Mutants in Cancer, organism-specific biosystem (from REACTOME)
Signaling by NOTCH1 HD+PEST Domain Mutants in Cancer, organism-specific biosystemMutations in the heterodimerization domain (HD) and PEST domain of NOTCH1 are frequently found in cis in T-cell acute lymphoblastic leukemia. While HD mutations alone result in up to ~10-fold increas...
Signaling by NOTCH1 PEST Domain Mutants in Cancer, organism-specific biosystem (from REACTOME)
Signaling by NOTCH1 PEST Domain Mutants in Cancer, organism-specific biosystemNOTCH1 PEST domain mutations are frequently found in T-cell acute lymphoblastic leukemia (T-ALL). PEST domain mutations interfere with ubiquitination-mediated NOTCH1 downregulation and result in prol...
Signaling by NOTCH1 in Cancer, organism-specific biosystem (from REACTOME)
Signaling by NOTCH1 in Cancer, organism-specific biosystemHuman NOTCH1 was cloned as a chromosome 9 gene, translocated to the T-cell beta receptor (TCBR) promoter on chromosome 7 in T-cell acute lymphoblastic leukemia (T-ALL) (Ellisen et al. 1991). This tra...
Signaling by NOTCH2, organism-specific biosystem (from REACTOME)
Signaling by NOTCH2, organism-specific biosystemNOTCH2 is activated by binding Delta-like and Jagged ligands (DLL/JAG) expressed in trans on neighboring cells (Shimizu et al. 1999, Shimizu et al. 2000, Hicks et al. 2000, Ji et al. 2004). In trans ...
Th1 and Th2 cell differentiation, organism-specific biosystem (from KEGG)
Th1 and Th2 cell differentiation, organism-specific biosystemImmunity to different classes of microorganisms is orchestrated by separate lineages of effector T helper (TH)-cells, which differentiate from naive CD4+ precursor cells in response to cues provided ...
Th1 and Th2 cell differentiation, conserved biosystem (from KEGG)
Th1 and Th2 cell differentiation, conserved biosystemImmunity to different classes of microorganisms is orchestrated by separate lineages of effector T helper (TH)-cells, which differentiate from naive CD4+ precursor cells in response to cues provided ...
Viral carcinogenesis, organism-specific biosystem (from KEGG)
Viral carcinogenesis, organism-specific biosystemThere is a strong association between viruses and the development of human malignancies. We now know that at least six human viruses, Epstein-Barr virus (EBV), hepatitis B virus (HBV), hepatitis C vi...
Viral carcinogenesis, conserved biosystem (from KEGG)
Viral carcinogenesis, conserved biosystemThere is a strong association between viruses and the development of human malignancies. We now know that at least six human viruses, Epstein-Barr virus (EBV), hepatitis B virus (HBV), hepatitis C vi...

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-67732 (e-PCR)
- UniSTS:80649

NoName (e-PCR)
- UniSTS:482339

D4S858 (e-PCR)
- UniSTS:57921

G48208 (e-PCR)
- UniSTS:95305

Rbpsuh-rs3 (e-PCR), detects polymorphism
- UniSTS:166228

D10S16 (e-PCR)
- UniSTS:155756

STS-T67414 (e-PCR)
- UniSTS:82298

SHGC-67733 (e-PCR)
- UniSTS:43905

RH35837 (e-PCR)
- UniSTS:84637

SHGC-64083 (e-PCR)
- UniSTS:928

G43168 (e-PCR)
- UniSTS:94890

SHGC-59198 (e-PCR)
- UniSTS:49588

RBPSUH_4000 (e-PCR)
- UniSTS:463309

SHGC-67311 (e-PCR)
- UniSTS:84976

NoName (e-PCR)
- UniSTS:480496

SHGC-59196 (e-PCR)
- UniSTS:66553

SHGC-133079 (e-PCR)
- UniSTS:171005

Homology

Homologs of the RBPJ gene: The RBPJ gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, rat, chicken, zebrafish, fruit fly, mosquito, C.elegans, and frog.
Orthologs from Annotation Pipeline: 242 organisms have orthologs with human gene RBPJ
The Hierarchical Catalog of Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
DNA binding	TAS Traceable Author Statement 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
DNA-binding transcription factor activity, RNA polymerase II-specific	NAS Non-traceable Author Statement 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
proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific	IBA Inferred from Biological aspect of Ancestor more info	PubMed
proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific	IDA Inferred from Direct Assay more info	PubMed
recombinase activity	NAS Non-traceable Author Statement 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
DNA recombination	NAS Non-traceable Author Statement more info	PubMed
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
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

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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)

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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

NG_030343.1 RefSeqGene

Range

5001..120422

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001363577.1 → NP_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

Conserved Domains (3) summary

cd01176
Location:315 → 411

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:144 → 293

BTD; Beta-trefoil DNA-binding domain

pfam09271
Location:13 → 142

LAG1-DNAbind; LAG1, DNA binding
NM_005349.3 → NP_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).

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:350 → 446

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:179 → 328

BTD; Beta-trefoil DNA-binding domain

pfam09271
Location:48 → 177

LAG1-DNAbind; LAG1, DNA binding
NM_015874.4 → NP_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, OTTHUMP00000218678, ENST00000348160.8, OTTHUMT00000361631

Conserved Domains (3) summary

cd01176
Location:337 → 433

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:166 → 315

BTD; Beta-trefoil DNA-binding domain

pfam09271
Location:35 → 164

LAG1-DNAbind; LAG1, DNA binding
NM_203283.2 → NP_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, OTTHUMP00000123439, ENST00000345843.7, OTTHUMT00000215045

Conserved Domains (3) summary

cd01176
Location:335 → 431

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:164 → 313

BTD; Beta-trefoil DNA-binding domain

pfam09271
Location:33 → 162

LAG1-DNAbind; LAG1, DNA binding
NM_203284.2 → NP_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.

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:336 → 432

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:165 → 314

BTD; Beta-trefoil DNA-binding domain

pfam09271
Location:34 → 163

LAG1-DNAbind; LAG1, DNA binding

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

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

Reference GRCh38.p12 Primary Assembly

Genomic

NC_000004.12 Reference GRCh38.p12 Primary Assembly

Range

26163489..26435131

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_005248161.4 → XP_005248218.1 recombining binding protein suppressor of hairless isoform X3

See identical proteins and their annotated locations for XP_005248218.1

UniProtKB/Swiss-Prot

Q06330

Conserved Domains (3) summary

cd01176
Location:336 → 432

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:165 → 314

BTD; Beta-trefoil DNA-binding domain

pfam09271
Location:34 → 163

LAG1-DNAbind; LAG1, DNA binding
XM_017008170.2 → XP_016863659.1 recombining binding protein suppressor of hairless isoform X1

Conserved Domains (3) summary

cd01176
Location:356 → 452

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:185 → 334

BTD; Beta-trefoil DNA-binding domain

pfam09271
Location:54 → 183

LAG1-DNAbind; LAG1, DNA binding
XM_024454032.1 → XP_024309800.1 recombining binding protein suppressor of hairless isoform X3

Conserved Domains (3) summary

cd01176
Location:336 → 432

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:165 → 314

BTD; Beta-trefoil DNA-binding domain

pfam09271
Location:34 → 163

LAG1-DNAbind; LAG1, DNA binding
XM_017008175.2 → XP_016863664.1 recombining binding protein suppressor of hairless isoform X3

UniProtKB/Swiss-Prot

Q06330

Conserved Domains (3) summary

cd01176
Location:336 → 432

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:165 → 314

BTD; Beta-trefoil DNA-binding domain

pfam09271
Location:34 → 163

LAG1-DNAbind; LAG1, DNA binding
XM_017008174.2 → XP_016863663.1 recombining binding protein suppressor of hairless isoform X3

UniProtKB/Swiss-Prot

Q06330

Conserved Domains (3) summary

cd01176
Location:336 → 432

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:165 → 314

BTD; Beta-trefoil DNA-binding domain

pfam09271
Location:34 → 163

LAG1-DNAbind; LAG1, DNA binding
XM_024454033.1 → XP_024309801.1 recombining binding protein suppressor of hairless isoform X4

Related

ENSP00000423907.1, ENST00000507561.5

Conserved Domains (3) summary

cd01176
Location:315 → 411

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:144 → 293

BTD; Beta-trefoil DNA-binding domain

pfam09271
Location:13 → 142

LAG1-DNAbind; LAG1, DNA binding
XM_011513840.3 → XP_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:336 → 432

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:165 → 314

BTD; Beta-trefoil DNA-binding domain

pfam09271
Location:34 → 163

LAG1-DNAbind; LAG1, DNA binding
XM_017008171.2 → XP_016863660.1 recombining binding protein suppressor of hairless isoform X2

Related

OTTHUMP00000217971
XM_017008173.2 → XP_016863662.1 recombining binding protein suppressor of hairless isoform X3

UniProtKB/Swiss-Prot

Q06330

Conserved Domains (3) summary

cd01176
Location:336 → 432

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:165 → 314

BTD; Beta-trefoil DNA-binding domain

pfam09271
Location:34 → 163

LAG1-DNAbind; LAG1, DNA binding