InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: RBPJ

Summary

InnateDB Protein

IDBP-12537.7

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

RBPJ

Protein Name

recombination signal binding protein for immunoglobulin kappa J region

Synonyms

AOS3; CBF1; csl; IGKJRB; IGKJRB1; KBF2; RBP-J; RBPJK; RBPSUH; SUH;

Species

Homo sapiens

Ensembl Protein

ENSP00000340124

InnateDB Gene

IDBG-12527 (RBPJ)

Protein Structure

UniProt Annotation

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. {ECO:0000269PubMed:21991380}.

Subcellular Localization

Nucleus. Cytoplasm. Note=Mainly nuclear, upon interaction with RITA/C12orf52, translocates to the cytoplasm, down-regulating the Notch signaling pathway.

Disease Associations

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. {ECO:0000269PubMed:22883147}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 66 experimentally validated interaction(s) in this database.
They are also associated with 18 interaction(s) predicted by orthology.

Experimentally validated
Total	66 [view]
Protein-Protein	58 [view]
Protein-DNA	7 [view]
Protein-RNA	1 [view]
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	18 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0000150	recombinase activity
GO:0000978	RNA polymerase II core promoter proximal region sequence-specific DNA binding
GO:0000982	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity
GO:0001077	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription
GO:0001103	RNA polymerase II repressing transcription factor binding
GO:0003677	DNA binding
GO:0003700	sequence-specific DNA binding transcription factor activity
GO:0005515	protein binding

Biological Process

GO:0000122	negative regulation of transcription from RNA polymerase II promoter
GO:0001525	angiogenesis
GO:0001837	epithelial to mesenchymal transition
GO:0003151	outflow tract morphogenesis
GO:0003160	endocardium morphogenesis
GO:0003198	epithelial to mesenchymal transition involved in endocardial cushion formation
GO:0003214	cardiac left ventricle morphogenesis
GO:0003222	ventricular trabecula myocardium morphogenesis
GO:0003256	regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation
GO:0006310	DNA recombination
GO:0006355	regulation of transcription, DNA-templated
GO:0006366	transcription from RNA polymerase II promoter
GO:0006367	transcription initiation from RNA polymerase II promoter
GO:0007219	Notch signaling pathway
GO:0007221	positive regulation of transcription of Notch receptor target
GO:0010467	gene expression
GO:0030279	negative regulation of ossification
GO:0030513	positive regulation of BMP signaling pathway
GO:0035912	dorsal aorta morphogenesis
GO:0036302	atrioventricular canal development
GO:0045892	negative regulation of transcription, DNA-templated
GO:0045944	positive regulation of transcription from RNA polymerase II promoter
GO:0060045	positive regulation of cardiac muscle cell proliferation
GO:0060716	labyrinthine layer blood vessel development
GO:0061314	Notch signaling involved in heart development
GO:0072554	blood vessel lumenization
GO:0097101	blood vessel endothelial cell fate specification
GO:1901186	positive regulation of ERBB signaling pathway
GO:1901189	positive regulation of ephrin receptor signaling pathway
GO:2000138	positive regulation of cell proliferation involved in heart morphogenesis

Cellular Component

GO:0002193	MAML1-RBP-Jkappa- ICN1 complex
GO:0005634	nucleus
GO:0005654	nucleoplasm
GO:0005730	nucleolus
GO:0005737	cytoplasm

Protein Structure and Domains

PDB ID

InterPro

IPR002909 IPT domain
IPR008967 p53-like transcription factor, DNA-binding
IPR014756 Immunoglobulin E-set
IPR015350 Beta-trefoil DNA-binding domain
IPR015351 LAG1, DNA binding

PFAM

PF01833
PF09270
PF09271

PRINTS

PIRSF

SMART

SM00429

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt

Q06330