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

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

中文名称:免疫球蛋白κJ 区重组信号结合蛋白

种属: Homo sapiens

同用名: SUH; csl; AOS3; CBF1; KBF2; CBF-1; RBP-J; RBPJK; IGKJRB; RBP-JK; RBPSUH; IGKJRB1; RBP-J kappa

基因 ID: 3516 | 基因类型: protein coding

关于 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.

功能概要

该基因编码的蛋白质是一种在 Notch 信号通路中很重要的转录调节因子。编码的蛋白质在不与 Notch 蛋白结合时充当阻遏物,在与 Notch 蛋白结合时充当激活剂。它被认为通过将含有组蛋白去乙酰化酶或组蛋白乙酰化酶蛋白的染色质重塑复合物募集到 Notch 信号通路基因来发挥作用。已发现该基因编码不同亚型的几种转录变体,并且该基因的几个假基因存在于 9 号染色体上。[RefSeq 提供,2013 年 10 月]

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 基因产物(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
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables DNA-binding transcription activator activity, RNA polymerase II-specific IDA
IDA: 通过直接分析推断
18663143 GOA
enables DNA-binding transcription factor binding IDA
IDA: 通过直接分析推断
23303788 GOA
enables DNA-binding transcription factor binding IPI
IPI: 通过物理相互作用推断
16691198 GOA
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IDA
IDA: 通过直接分析推断
16691198 GOA
enables RNA polymerase II-specific DNA-binding transcription factor binding IPI
IPI: 通过物理相互作用推断
16287852 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
8627785 GOA
enables sequence-specific DNA binding IDA
IDA: 通过直接分析推断
23303788 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of MAML1-RBP-Jkappa- ICN1 complex IDA
IDA: 通过直接分析推断
16510869 GOA
located in cytoplasm IDA
IDA: 通过直接分析推断
21102556 GOA
located in nucleolus IDA
IDA: 通过直接分析推断
9874765 GOA
located in nucleus IDA
IDA: 通过直接分析推断
9874765 GOA
part of transcription repressor complex IDA
IDA: 通过直接分析推断
16691198 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

RBPJ 蛋白结构

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.
蛋白主名 其他名称

recombining binding protein suppressor of hairless

H-2K binding factor-2

RBPJ 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
Intra RBPJ Q06330 PHF8 Homo sapiens Q9UPP1
Anti Bait CoIP
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
Anti Bait CoIP
23022380
Intra RBPJ Q06330 TP53 Homo sapiens P04637
Anti Bait CoIP
26302407
Intra RBPJ Q06330 TP53 Homo sapiens P04637
MST
26302407
Intra RBPJ Q06330 TP53 Homo sapiens P04637
Anti Tag CoIP
26302407
Intra RBPJ Q06330 SNW1 Homo sapiens Q13573
Y2H
10713164
Intra RBPJ Q06330 NOTCH1 Homo sapiens P46531
Anti Tag CoIP
26496610
Intra RBPJ Q06330 NOTCH1 Homo sapiens P46531
Y2H
10713164
Intra RBPJ Q06330 NOTCH1 Homo sapiens P46531
Anti Tag CoIP
17284587
Intra RBPJ Q06330 NOTCH1 Homo sapiens P46531
TAP
25609649
Intra RBPJ Q06330 NOTCH1 Homo sapiens P46531
Anti Tag CoIP
21475249
Intra RBPJ Q06330 NOTCH1 Homo sapiens P46531
CoIP
10713164
Intra RBPJ Q06330 NOTCH1 Homo sapiens P46531
Anti Tag CoIP
33961781
Intra RBPJ Q06330 KDM1A Homo sapiens O60341
Anti Bait CoIP
23022380
Intra RBPJ Q06330 SPEN Homo sapiens Q96T58
Anti Tag CoIP
33961781
Intra RBPJ Q06330 SPEN Homo sapiens Q96T58
TAP
25609649
Intra RBPJ Q06330 NCOR2 Homo sapiens Q9Y618
Anti Tag CoIP
21475249
Intra RBPJ Q06330 ATXN1L Homo sapiens P0C7T5
Competition Binding
21475249
Intra RBPJ Q06330 ATXN1L Homo sapiens P0C7T5
Anti Tag CoIP
21475249
Intra RBPJ Q06330 ATXN1 Homo sapiens P54253
Anti Tag CoIP
21475249
Intra RBPJ Q06330 ATXN1 Homo sapiens P54253
Y2H
21475249
Intra RBPJ Q06330 ATXN1 Homo sapiens P54253
Competition Binding
21475249
Cross RBPJ Q06330 EBNA2 Epstein-Barr virus P12978
Pull Down
8627785
Cross RBPJ Q06330 EBNA6 Epstein-Barr virus P03204
Pull Down
8627785
Cross RBPJ Q06330 EBNA6 Epstein-Barr virus P03204
Anti Bait CoIP
8627785
Cross RBPJ Q06330 EBNA4 Epstein-Barr virus P03203
Pull Down
8627785
Cross RBPJ Q06330 EBNA3 Epstein-Barr virus P12977
Pull Down
8627785
Cross RBPJ Q06330 EBNA3 Epstein-Barr virus P12977
Y2H Array
22810586
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
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]

疾病名称 别名
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

直系同源

种属 基因名 来源 基因 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