• Gene id: 3516

Gene Summary

• Gene Symbol: RBPJ   Gene   UCSC   Ensembl
• Aliases: AOS3, CBF-1, CBF1, IGKJRB, IGKJRB1, KBF2, RBP-J, RBP-J kappa, RBP-JK, RBPJK, RBPSUH, SUH, csl
• Gene name: recombination signal binding protein for immunoglobulin kappa J region
• Alternate names: recombining binding protein suppressor of hairless, H-2K binding factor-2, immunoglobulin kappa J region recombination signal binding protein 1, renal carcinoma antigen NY-REN-30, suppressor of hairless homolog,
• Gene location: 4p15.2 (26163457: 26435130)     Exons: 19     NC_000004.12
• Gene summary(Entrez): 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
• OMIM: 147183

Protein Summary

• Protein general information: Q06330  
  • Name: Recombining binding protein suppressor of hairless (CBF 1) (J kappa recombination signal binding protein) (RBP J kappa) (RBP J) (RBP JK) (Renal carcinoma antigen NY REN 30)
  • Length: 500  
  • Mass: 55637
• Sequence:

  MDHTEGSPAEEPPAHAPSPGKFGERPPPKRLTREAMRNYLKERGDQTVLILHAKVAQKSYGNEKRFFCPPPCVYL
  MGSGWKKKKEQMERDGCSEQESQPCAFIGIGNSDQEMQQLNLEGKNYCTAKTLYISDSDKRKHFMLSVKMFYGNS
  DDIGVFLSKRIKVISKPSKKKQSLKNADLCIASGTKVALFNRLRSQTVSTRYLHVEGGNFHASSQQWGAFFIHLL
  DDDESEGEEFTVRDGYIHYGQTVKLVCSVTGMALPRLIIRKVDKQTALLDADDPVSQLHKCAFYLKDTERMYLCL
  SQERIIQFQATPCPKEPNKEMINDGASWTIISTDKAEYTFYEGMGPVLAPVTPVPVVESLQLNGGGDVAMLELTG
  QNFTPNLRVWFGDVEAETMYRCGESMLCVVPDISAFREGWRWVRQPVQVPVTLVRNDGIIYSTSLTFTYTPEPGP
  RPHCSAAGAILRANSSQVPPNESNTNSEGSYTNASTNSTSVTSSTATVVS

• Structural information:
  • Protein Domains: (355..44-)
    (/note="IPT/TIG"-)
  • Interpro: IPR015350  IPR036358  IPR040159  IPR013783  IPR014756   IPR008967  IPR015351  IPR037095  IPR038007  
  • CDD: cd01176
  • PDB: 2F8X 3NBN 3V79 6PY8
  • PDBsum: 2F8X 3NBN 3V79 6PY8
  • DIP: 33326
  • STRING: ENSP00000345206
• Other Databases: GeneCards:  RBPJ  Malacards:  RBPJ

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISM	molecular function
GO:0000790	nuclear chromatin	ISA	cellular component
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA	molecular function
GO:0043565	sequence-specific DNA binding	IBA	molecular function
GO:0007219	Notch signaling pathway	IBA	biological process
GO:0002193	MAML1-RBP-Jkappa- ICN1 complex	IBA	cellular component
GO:0070491	repressing transcription factor binding	IBA	molecular function
GO:0005667	transcription regulator complex	IBA	cellular component
GO:0005634	nucleus	IBA	cellular component
GO:0001103	RNA polymerase II repressing transcription factor binding	IBA	molecular function
GO:0000122	negative regulation of transcription by RNA polymerase II	IBA	biological process
GO:0007221	positive regulation of transcription of Notch receptor target	IDA	biological process
GO:0061419	positive regulation of transcription from RNA polymerase II promoter in response to hypoxia	IDA	biological process
GO:0043565	sequence-specific DNA binding	IDA	molecular function
GO:0005737	cytoplasm	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0008134	transcription factor binding	IDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0008134	transcription factor binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IEA	molecular function
GO:0001228	DNA-binding transcription activator activity, RNA polymerase II-specific	IEA	molecular function
GO:0003700	DNA-binding transcription factor activity	IEA	molecular function
GO:0006357	regulation of transcription by RNA polymerase II	IEA	biological process
GO:0003677	DNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0007219	Notch signaling pathway	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0003677	DNA binding	IEA	molecular function
GO:0001228	DNA-binding transcription activator activity, RNA polymerase II-specific	IDA	molecular function
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0006367	transcription initiation from RNA polymerase II promoter	TAS	biological process
GO:0007219	Notch signaling pathway	TAS	biological process
GO:0007219	Notch signaling pathway	TAS	biological process
GO:0007221	positive regulation of transcription of Notch receptor target	TAS	biological process
GO:0007221	positive regulation of transcription of Notch receptor target	TAS	biological process
GO:0007221	positive regulation of transcription of Notch receptor target	TAS	biological process
GO:0007221	positive regulation of transcription of Notch receptor target	TAS	biological process
GO:0045747	positive regulation of Notch signaling pathway	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IEA	molecular function
GO:0001228	DNA-binding transcription activator activity, RNA polymerase II-specific	IEA	molecular function
GO:0001525	angiogenesis	IEA	biological process
GO:0001974	blood vessel remodeling	IEA	biological process
GO:0002437	inflammatory response to antigenic stimulus	IEA	biological process
GO:0003139	secondary heart field specification	IEA	biological process
GO:0003157	endocardium development	IEA	biological process
GO:0003160	endocardium morphogenesis	IEA	biological process
GO:0003222	ventricular trabecula myocardium morphogenesis	IEA	biological process
GO:0003256	regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation	IEA	biological process
GO:0003682	chromatin binding	IEA	molecular function
GO:0006357	regulation of transcription by RNA polymerase II	IEA	biological process
GO:0006959	humoral immune response	IEA	biological process
GO:0007219	Notch signaling pathway	IEA	biological process
GO:0007221	positive regulation of transcription of Notch receptor target	IEA	biological process
GO:0008284	positive regulation of cell population proliferation	IEA	biological process
GO:0008285	negative regulation of cell population proliferation	IEA	biological process
GO:0010628	positive regulation of gene expression	IEA	biological process
GO:0021983	pituitary gland development	IEA	biological process
GO:0030183	B cell differentiation	IEA	biological process
GO:0030279	negative regulation of ossification	IEA	biological process
GO:0030513	positive regulation of BMP signaling pathway	IEA	biological process
GO:0036302	atrioventricular canal development	IEA	biological process
GO:0042127	regulation of cell population proliferation	IEA	biological process
GO:0043565	sequence-specific DNA binding	IEA	molecular function
GO:0045165	cell fate commitment	IEA	biological process
GO:0045596	negative regulation of cell differentiation	IEA	biological process
GO:0045892	negative regulation of transcription, DNA-templated	IEA	biological process
GO:0060045	positive regulation of cardiac muscle cell proliferation	IEA	biological process
GO:0060486	club cell differentiation	IEA	biological process
GO:0060716	labyrinthine layer blood vessel development	IEA	biological process
GO:0060844	arterial endothelial cell fate commitment	IEA	biological process
GO:0072554	blood vessel lumenization	IEA	biological process
GO:0072602	interleukin-4 secretion	IEA	biological process
GO:2000138	positive regulation of cell proliferation involved in heart morphogenesis	IEA	biological process
GO:0000122	negative regulation of transcription by RNA polymerase II	IEA	biological process
GO:0001756	somitogenesis	IEA	biological process
GO:0001837	epithelial to mesenchymal transition	IEA	biological process
GO:0003151	outflow tract morphogenesis	IEA	biological process
GO:0003176	aortic valve development	IEA	biological process
GO:0003177	pulmonary valve development	IEA	biological process
GO:0003198	epithelial to mesenchymal transition involved in endocardial cushion formation	IEA	biological process
GO:0003214	cardiac left ventricle morphogenesis	IEA	biological process
GO:0003677	DNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005667	transcription regulator complex	IEA	cellular component
GO:0007507	heart development	IEA	biological process
GO:0009912	auditory receptor cell fate commitment	IEA	biological process
GO:0009957	epidermal cell fate specification	IEA	biological process
GO:0010468	regulation of gene expression	IEA	biological process
GO:0030097	hemopoiesis	IEA	biological process
GO:0030182	neuron differentiation	IEA	biological process
GO:0030216	keratinocyte differentiation	IEA	biological process
GO:0035019	somatic stem cell population maintenance	IEA	biological process
GO:0035912	dorsal aorta morphogenesis	IEA	biological process
GO:0042742	defense response to bacterium	IEA	biological process
GO:0043011	myeloid dendritic cell differentiation	IEA	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IEA	biological process
GO:0047485	protein N-terminus binding	IEA	molecular function
GO:0048505	regulation of timing of cell differentiation	IEA	biological process
GO:0048733	sebaceous gland development	IEA	biological process
GO:0048820	hair follicle maturation	IEA	biological process
GO:0048844	artery morphogenesis	IEA	biological process
GO:0060412	ventricular septum morphogenesis	IEA	biological process
GO:0097101	blood vessel endothelial cell fate specification	IEA	biological process
GO:0120163	negative regulation of cold-induced thermogenesis	IEA	biological process
GO:1901186	positive regulation of ERBB signaling pathway	IEA	biological process
GO:1901189	positive regulation of ephrin receptor signaling pathway	IEA	biological process
GO:1901297	positive regulation of canonical Wnt signaling pathway involved in cardiac muscle cell fate commitment	IEA	biological process
GO:0001103	RNA polymerase II repressing transcription factor binding	IPI	molecular function
GO:0061314	Notch signaling involved in heart development	IC	biological process
GO:0001525	angiogenesis	ISS	biological process
GO:0003160	endocardium morphogenesis	ISS	biological process
GO:0003222	ventricular trabecula myocardium morphogenesis	ISS	biological process
GO:0003256	regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation	ISS	biological process
GO:0007219	Notch signaling pathway	IMP	biological process
GO:0030279	negative regulation of ossification	ISS	biological process
GO:0030513	positive regulation of BMP signaling pathway	ISS	biological process
GO:0036302	atrioventricular canal development	ISS	biological process
GO:0060045	positive regulation of cardiac muscle cell proliferation	ISS	biological process
GO:0060716	labyrinthine layer blood vessel development	ISS	biological process
GO:0072554	blood vessel lumenization	ISS	biological process
GO:2000138	positive regulation of cell proliferation involved in heart morphogenesis	ISS	biological process
GO:0000122	negative regulation of transcription by RNA polymerase II	ISS	biological process
GO:0000122	negative regulation of transcription by RNA polymerase II	IMP	biological process
GO:0001837	epithelial to mesenchymal transition	ISS	biological process
GO:0003151	outflow tract morphogenesis	ISS	biological process
GO:0003198	epithelial to mesenchymal transition involved in endocardial cushion formation	ISS	biological process
GO:0003214	cardiac left ventricle morphogenesis	ISS	biological process
GO:0035912	dorsal aorta morphogenesis	ISS	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IMP	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IMP	biological process
GO:0097101	blood vessel endothelial cell fate specification	ISS	biological process
GO:1901186	positive regulation of ERBB signaling pathway	ISS	biological process
GO:1901189	positive regulation of ephrin receptor signaling pathway	ISS	biological process
GO:0010628	positive regulation of gene expression	ISS	biological process
GO:0010628	positive regulation of gene expression	ISS	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0120163	negative regulation of cold-induced thermogenesis	ISS	biological process
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA	molecular function
GO:0017053	transcription repressor complex	IDA	cellular component
GO:0070491	repressing transcription factor binding	IPI	molecular function
GO:0045892	negative regulation of transcription, DNA-templated	IDA	biological process
GO:0005730	nucleolus	IDA	cellular component
GO:0002193	MAML1-RBP-Jkappa- ICN1 complex	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0003700	DNA-binding transcription factor activity	TAS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0003677	DNA binding	TAS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa05165	Human papillomavirus infection
hsa05203	Viral carcinogenesis
hsa05169	Epstein-Barr virus infection
hsa05017	Spinocerebellar ataxia
hsa04658	Th1 and Th2 cell differentiation
hsa04330	Notch signaling pathway

Diseases

Associated diseases	References
Adams-Oliver syndrome	KEGG:H01413
Adams-Oliver syndrome	KEGG:H01413
Cardiomyopathy	PMID:10600520
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq