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

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

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 3516

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
Molecular Function GO Annotation Evidence References 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 References 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 References 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

LAG1-DNAbind: LAG1, DNA binding (47 - 178)

BTD

BTD: Beta-trefoil DNA-binding domain (179 - 328)

TIG

TIG: IPT/TIG domain (366 - 444)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 500 a.a.
Protein Preferred Names Protein Names

recombining binding protein suppressor of hairless

  • H-2K binding factor-2

RBPJ Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
RBPJ Q06330 PHF8 Homo sapiens Q9UPP1 23022380
Intra
RBPJ Q06330 FBXO42 Homo sapiens Q6P3S6
TAP
25609649
Intra
RBPJ Q06330 RITA1 Homo sapiens Q96K30
IF
21102556
Intra
RBPJ Q06330 RITA1 Homo sapiens Q96K30
Y2H
21102556
Intra
RBPJ Q06330 RITA1 Homo sapiens Q96K30
TAP
25609649
Intra
RBPJ Q06330 SMARCA4 Homo sapiens P51532 23022380
Intra
RBPJ Q06330 TP53 Homo sapiens P04637 26302407
Intra
RBPJ Q06330 TP53 Homo sapiens P04637
MST
26302407
Intra
RBPJ Q06330 TP53 Homo sapiens P04637 26302407
Intra
RBPJ Q06330 SNW1 Homo sapiens Q13573
Y2H
10713164
Intra
RBPJ Q06330 NOTCH1 Homo sapiens P46531 26496610
Intra
RBPJ Q06330 NOTCH1 Homo sapiens P46531
Y2H
10713164
Intra
RBPJ Q06330 NOTCH1 Homo sapiens P46531 17284587
Intra
RBPJ Q06330 NOTCH1 Homo sapiens P46531
TAP
25609649
Intra
RBPJ Q06330 NOTCH1 Homo sapiens P46531 21475249
Intra
RBPJ Q06330 NOTCH1 Homo sapiens P46531 10713164
Intra
RBPJ Q06330 NOTCH1 Homo sapiens P46531 33961781
Intra
RBPJ Q06330 KDM1A Homo sapiens O60341 23022380
Intra
RBPJ Q06330 SPEN Homo sapiens Q96T58 33961781
Intra
RBPJ Q06330 SPEN Homo sapiens Q96T58
TAP
25609649
Intra
RBPJ Q06330 NCOR2 Homo sapiens Q9Y618 21475249
Intra
RBPJ Q06330 ATXN1L Homo sapiens P0C7T5 21475249
Intra
RBPJ Q06330 ATXN1L Homo sapiens P0C7T5 21475249
Intra
RBPJ Q06330 ATXN1 Homo sapiens P54253 21475249
Intra
RBPJ Q06330 ATXN1 Homo sapiens P54253
Y2H
21475249
Intra
RBPJ Q06330 ATXN1 Homo sapiens P54253 21475249
Cross
RBPJ Q06330 EBNA2 Epstein-Barr virus P12978 8627785
Cross
RBPJ Q06330 EBNA6 Epstein-Barr virus P03204 8627785
Cross
RBPJ Q06330 EBNA6 Epstein-Barr virus P03204 8627785
Cross
RBPJ Q06330 EBNA4 Epstein-Barr virus P03203 8627785
Cross
RBPJ Q06330 EBNA3 Epstein-Barr virus P12977 8627785
Cross
RBPJ Q06330 EBNA3 Epstein-Barr virus P12977 22810586
Cross: Cross-species interaction Intra: Intraspecies interaction

RBPJ Antibodies

Cat. No. Product Name Application Reactivity
HY-P80305 RBPJK Antibody (YA099) WB Human

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

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
Others RBPJ NCBI