RBPJ - recombination signal binding protein for immunoglobulin kappa J region Gene

Homo sapiens

Also known as SUH; csl; AOS3; CBF1; KBF2; CBF-1; RBP-J; RBPJK; IGKJRB; RBP-JK; RBPSUH; IGKJRB1; RBP-J kappa

Gene ID: 3516 | Gene type: protein coding

About RBPJ

Cytogenetic location: 4p15.2 Genomic coordinates (GRCh38): 4:26,105,449-26,435,131 (from NCBI)

This gene has 51 transcripts (splice variants), 287 orthologues, 1 paralogue and is associated with 3 phenotypes. Ubiquitous expression in placenta (RPKM 17.3), endometrium (RPKM 16.0) and 25 other tissues.

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]

RBPJ Products(13)

mRNA	Protein	Name
NM_001363577.2	NP_001350506.1	recombining binding protein suppressor of hairless isoform 3
NM_001374400.1	NP_001361329.1	recombining binding protein suppressor of hairless isoform 1
NM_001374401.1	NP_001361330.1	recombining binding protein suppressor of hairless isoform 4
NM_001374402.1	NP_001361331.1	recombining binding protein suppressor of hairless isoform 4
NM_001374403.1	NP_001361332.1	recombining binding protein suppressor of hairless isoform 4
NM_001379406.1	NP_001366335.1	recombining binding protein suppressor of hairless isoform 4
NM_001379407.1	NP_001366336.1	recombining binding protein suppressor of hairless isoform 4
NM_001379408.1	NP_001366337.1	recombining binding protein suppressor of hairless isoform 7
NM_001379409.1	NP_001366338.1	recombining binding protein suppressor of hairless isoform 6
NM_005349.4	NP_005340.2	recombining binding protein suppressor of hairless isoform 1
NM_015874.6	NP_056958.3	recombining binding protein suppressor of hairless isoform 2
NM_203283.5	NP_976028.2	recombining binding protein suppressor of hairless isoform 3
NM_203284.3	NP_976029.1	recombining binding protein suppressor of hairless isoform 4

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables DNA-binding transcription activator activity, RNA polymerase II-specific	IDA IDA: Inferred from direct assay	18663143	GOA
enables DNA-binding transcription factor binding	IDA IDA: Inferred from direct assay	23303788	GOA
enables DNA-binding transcription factor binding	IPI IPI: Inferred from physical interaction	16691198	GOA
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA IDA: Inferred from direct assay	16691198	GOA
enables RNA polymerase II-specific DNA-binding transcription factor binding	IPI IPI: Inferred from physical interaction	16287852	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	8627785	GOA
enables sequence-specific DNA binding	IDA IDA: Inferred from direct assay	23303788	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in Notch signaling pathway	IMP IMP: Inferred from mutant phenotype	18663143	GOA
involved in heart development	IMP IMP: Inferred from mutant phenotype	21311046	GOA
involved in negative regulation of DNA-templated transcription	IDA IDA: Inferred from direct assay	10713164	GOA
involved in negative regulation of transcription by RNA polymerase II	IMP IMP: Inferred from mutant phenotype	18663143	GOA
involved in positive regulation of transcription by RNA polymerase II	IDA IDA: Inferred from direct assay	23303788	GOA
involved in positive regulation of transcription by RNA polymerase II	IMP IMP: Inferred from mutant phenotype	18663143	GOA
involved in positive regulation of transcription of Notch receptor target	IDA IDA: Inferred from direct assay	21102556	GOA
involved in regulation of generation of precursor metabolites and energy	IDA IDA: Inferred from direct assay	23303788	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
part of MAML1-RBP-Jkappa- ICN1 complex	IDA IDA: Inferred from direct assay	16510869	GOA
located in cytoplasm	IDA IDA: Inferred from direct assay	21102556	GOA
located in nucleolus	IDA IDA: Inferred from direct assay	9874765	GOA
located in nucleus	IDA IDA: Inferred from direct assay	9874765	GOA
part of transcription repressor complex	IDA IDA: Inferred from direct assay	16691198	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

RBPJ Protein Structure

LAG1-DNAbind

BTD

TIG

0
100
200
300
400
500 a.a.

Protein Preferred Names

Protein Names

recombining binding protein suppressor of hairless

H-2K binding factor-2

Related Diseases

Diseases

Alias

Adams-Oliver Syndrome 3

AOS3	Adams-Oliver Syndrome, Type 3

Adams-Oliver Syndrome

Adams Oliver Syndrome	Aos
Congenital Scalp Defects With Distal Limb Reduction Anomalies	Aplasia Cutis Congenita With Terminal Transverse Limb Defects
Congenital Scalp Defects With Distal Limb Anomalies	Limb, Scalp And Skull Defects
Limb Scalp And Skull Defects	Absence Defect Of Limbs, Scalp, And Skull

Oliver Syndrome

Postaxial Polydactyly-Intellectual Disability Syndrome

Postaxial Polydactyly And Mental Retardation

Type 2 Diabetes Mellitus

Insulin Resistance	NIDDM
Type 2 Diabetes	Diabetes Mellitus, Non-Insulin-Dependent
T2D	Noninsulin-Dependent Diabetes Mellitus
Diabetes Mellitus, Type Ii	Maturity-Onset Diabetes
Insulin Resistance, Severe, Digenic	Diabetes Mellitus, Type 2
Diabetes Mellitus, Noninsulin-Dependent	Diabetes Mellitus, Noninsulin-Dependent, Association With
Diabetes Mellitus, Noninsulin-Dependent, Late Onset	Hypertension, Insulin Resistance-Related, Susceptibility To
Insulin Resistance, Susceptibility To	Non-Insulin-Dependent Diabetes Mellitus
Type Ii Diabetes Mellitus	Adult-Onset Diabetes Mellitus
Maturity-Onset Diabetes Mellitus	Diabetes Mellitus Type 2
Type Ii Diabetes	Type 2 Diabetes Mellitus, Susceptibility To
Diabetes, Type 2	Diabetes Mellitus, Noninsulin-Dependent, Susceptibility To
Diabetes Mellitus, Non-Insulin-Dependent, Susceptibility To	Diabetes Mellitus, Type 2, Susceptibility To
Diabetes Mellitus, Noninsulin-Dependent, 2	Diabetes Mellitus, Type Ii, Susceptibility To
Hypertension, Insulin Resistance-Related	Adult-Onset Diabetes
Aodm	Diabetes Mellitus, Adult-Onset
Diabetes Mellitus Type Ii	Diabetes Mellitus Type 2, Susceptibility To
Diabetes, Type Ii, Susceptibility To	Diabetes Type 2
Diabetes Mellitus	Adult Onset Diabetes
Maturity Onset Diabetes	Nonketotic Diabetes
Non-Insulin Dependent Diabetes Mellitus	T2dm - [Type 2 Diabetes Mellitus]
Niddm - [Non Insulin Dependent Diabetes Mellitus]	Dm2
Dm Type Ii	Diabetic Type 2
Insulin Requiring Type 2 Diabetes	Noninsulin Dependent Diabetes
Non-Insulin-Dependent Diabetes Mellitus Without Complications	Diabetes Due To Insulin Secretory Defect
Diabetes Mellitus Due To Insulin Secretory Defect	Non-Insulin-Dependent Diabetes Of The Young
Senile Diabetes	Nonketotic Hyperglycaemia
Stable Diabetes

Hajdu-Cheney Syndrome

Acroosteolysis With Osteoporosis And Changes In Skull And Mandible	Cheney Syndrome
Arthrodentoosteodysplasia	HJCYS
Serpentine Fibula-Polycystic Kidney Syndrome	Sfpks
Acroosteolysis Dominant Type	Serpentine Fibula-Polycystic Kidneys Syndrome
Arthro-Dento-Osteo Dysplasia	Cranioskeletal Dysplasia With Acro-Osteolysis
Familial Osteodysplasia	Hereditary Osteodysplasia With Acro-Osteolysis
Hcs	Serpentine Fibula Syndrome
Acro-Osteolysis	Serpentine Fibula Polycystic Kidney Syndrome

Alagille Syndrome 1

Alagille Syndrome	Arteriohepatic Dysplasia
Alagille-Watson Syndrome	Cholestasis With Peripheral Pulmonary Stenosis
Hepatic Ductular Hypoplasia	Alagille Syndrome Due To A Jag1 Point Mutation
ALGS1	Algs
Aws	Syndromic Bile Duct Paucity
Cardiovertebral Syndrome	Hepatofacioneurocardiovertebral Syndrome
Paucity Of Interlobular Bile Ducts	Watson-Miller Syndrome
Alagille Syndrome Due To 20p12 Microdeletion	Ahd
Hepatic Ductular Hypoplasia, Syndromatic	Watson Alagille Syndrome
Alagille'S Syndrome	Alagille Syndrome Due To Del(20)(P12)
Alagille Syndrome Due To Monosomy 20p12	Alagille-Watson Syndrome Due To Monosomy 20p12
Arteriohepatic Dysplasia Due To Monosomy 20p12	Syndromic Bile Duct Paucity Due To Monosomy 20p12
Alagille-Watson Syndrome Due To A Jag1 Point Mutation	Arteriohepatic Dysplasia Due To A Jag1 Point Mutation
Syndromic Bile Duct Paucity Due To A Jag1 Point Mutation	Alagille Syndrome, Type 1

Aplasia Cutis Congenita

Aplasia Cutis Congenita Of Limbs Recessive	Congenital Absence Of Skin On The Upper Or Lower Limbs
Recessive Aplasia Cutis Congenita Of The Limbs	Aplasia Cutis Congenita Nonsyndromic
Congenital Defect Of Skull And Scalp	Scalp Defect Congenital

Aortic Valve Disease 1

Aortic Valve Disease	Bicuspid Aortic Valve
Aortic Valve Disorder	AOVD1
Bav	Bicuspid Aortic Valve Disease
Familial Bicuspid Aortic Valve	Aortic Valve Calcification
Aovd	Aortic Valve, Bicuspid
Aortic Valve, Calcification Of	Aortic Stenosis, Calcific
Familial Bav	Calcific Aortic Stenosis
Calcification Of Aortic Valve	Abnormality Of The Aortic Valve
Aortic Valve Disease, Type 1	Aortic Valve Disease 2
Bicommissural Aortic Valve

Uruguay Faciocardiomusculoskeletal Syndrome

FCMSU	Faciocardiomusculoskeletal Syndrome, Uruguay Type
Fcms	Musculoskeletal Diseases

Spondylocostal Dysostosis

Jarcho-Levin Syndrome	Costovertebral Dysplasia
Spondylothoracic Dysostosis	Spondylothoracic Dysplasia
Scdo	Dysostosis, Spondylocostal

Endosteal Hyperostosis, Autosomal Dominant

Osteosclerosis	Worth Syndrome
Osteosclerosis, Autosomal Dominant	Hyperostosis, Endosteal
Endosteal Hyperostosis, Worth Type	Worth Disease
Autosomal Dominant Endosteal Hyperostosis	Autosomal Dominant Osteosclerosis, Worth Type
Hyperostosis Corticalis Generalisata, Benign Form Of Worth, With Torus Palatinus	Autosomal Dominant Osteosclerosis
Benign Form Of Worth Hyperostosis Corticalis Generalisata With Torus Platinus	Worth'S Syndrome
Worth Type Autosomal Dominant Osteosclerosis	Hyperostosis Corticalis Generalisata, Benign Form Of Worth With Torus Palatinus
Osteosclerosis, Autosomal Dominant, Worth Type	WENHY
Endosteal Hyperostosis Autosomal Dominant	Hyperostosis Corticalis Generalisata Benign Form Of Worth With Torus Palatinus
Osteosclerosis Autosomal Dominant	Acquired Osteosclerosis

Colorectal Cancer

Colon Cancer	Colorectal Carcinoma
Colon Carcinoma	Colorectal Cancer, Susceptibility To
Carcinoma Of Colon	CRC
Colorectal Cancer With Chromosomal Instability, Somatic	Colon Cancer, Somatic
Colon Cancer, Susceptibility To	Colonic Neoplasms
Colorectal Neoplasms	Colorectal Cancer, Somatic
Colon Cancer, Advanced, Somatic	Colonic Carcinoma
Colorectal Carcinomas	Colon Cancers
Colorectal Cancers	Cancer, Colorectal, Somatic
Cancer, Colon	Cancer, Colorectal, Susceptibility To
Colorectal Neoplasm	Colonic Neoplasm
Malignant Tumor Of Colon

Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1

Cadasil	Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts And Leukoencephalopathy
Casil	Cerebral Arteriopathy With Subcortical Infarcts And Leukoencephalopathy
Familial Vascular Leukoencephalopathy	CADASIL1
Cadasil 1	Hereditary Multi-Infarct Dementia
Cadasil Syndrome	Dementia, Hereditary Multiinfarct Type
Cerebral Arteriopathy With Subcortical Infarcts And Leukoencephalopathy 1	Autosomal Dominant Cerebral Arteriopathy With Subcortical Infarcts And Leukoencephalopathy Type 1
Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts Leukoencephalopathy	Dementia, Hereditary Multi-Infarct Type
Hereditary Dementia, Multi-Infarct Type	Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, 1	Cerebral Arteriopathy With Subcortical Infarcts And Leukoencephalopathy, Autosomal Dominant
Dementia Hereditary Multiinfarct Type	Dementia Hereditary Multi-Infarct Type
Arteriopathy, Cerebral, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy

Tetralogy Of Fallot

TOF	Fallot Tetralogy
Ventricular Septal Defect With Pulmonary Stenosis Or Atresia, Dextraposition Of Aorta, And Hypertrophy Of Right Ventricle	Tetrad Of Fallot
Fallot Tetrad	Fallot Disease
Fallot Complex	Subpulmonic Stenosis, Ventricular Septal Defect, Overriding Aorta, And Right Ventricular Hypertrophy
Interventricular Septal Defect With Dextroposition Of Aorta, Pulmonary Stenosis And Hypertrophy Of Right Ventricle	Interventricular Septal Defect, In Tetralogy Of Fallot
Ventricular Septal Defect With Obstructed Right Ventricular Outflow	Tof - [Tetralogy Of Fallot]
Pulmonary Atresia With Ventricular Septal Defect [Fallot Type]	Pulmonary Atresia, Ventricular Septal Defect And Mapcas
Pulmonary Atresia With Ventricular Septal Defect And Systemic-To-Pulmonary Collateral Arteries [Fallot Type]

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-137471	RBPJ Inhibitor-1	Inhibitor	99.80%	Unkown
HY-RS11772	RBPJ Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	RBPJ	VGNC	VGNC:100265
Canis familiaris	RBPJ	VGNC	VGNC:53199
Bos taurus	RBPJ	VGNC	VGNC:53775
Rattus norvegicus	RBPJ	RGD	RGD:1593096
Felis catus	RBPJ	VGNC	VGNC:79985
Mus musculus	RBPJ	MGD	MGI:96522

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