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
About RBPJ
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 |
RBPJ Protein Structure
LAG1-DNAbind: LAG1, DNA binding (47 - 178)
BTD: Beta-trefoil DNA-binding domain (179 - 328)
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 |
|
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 | 25609649 | |
|
Intra
|
RBPJ | Q06330 | RITA1 | Homo sapiens | Q96K30 | 21102556 | |
|
Intra
|
RBPJ | Q06330 | RITA1 | Homo sapiens | Q96K30 | 21102556 | |
|
Intra
|
RBPJ | Q06330 | RITA1 | Homo sapiens | Q96K30 | 25609649 | |
|
Intra
|
RBPJ | Q06330 | SMARCA4 | Homo sapiens | P51532 | 23022380 | |
|
Intra
|
RBPJ | Q06330 | TP53 | Homo sapiens | P04637 | 26302407 | |
|
Intra
|
RBPJ | Q06330 | TP53 | Homo sapiens | P04637 | 26302407 | |
|
Intra
|
RBPJ | Q06330 | TP53 | Homo sapiens | P04637 | 26302407 | |
|
Intra
|
RBPJ | Q06330 | SNW1 | Homo sapiens | Q13573 | 10713164 | |
|
Intra
|
RBPJ | Q06330 | NOTCH1 | Homo sapiens | P46531 | 26496610 | |
|
Intra
|
RBPJ | Q06330 | NOTCH1 | Homo sapiens | P46531 | 10713164 | |
|
Intra
|
RBPJ | Q06330 | NOTCH1 | Homo sapiens | P46531 | 17284587 | |
|
Intra
|
RBPJ | Q06330 | NOTCH1 | Homo sapiens | P46531 | 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 | 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 | 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 |
RBPJ Antibodies
| Cat. No. | Product Name | Application | Reactivity |
|---|---|---|---|
| HY-P80305 | RBPJK Antibody (YA099) | WB | Human |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Adams-Oliver Syndrome 3 |
|
|
| Adams-Oliver Syndrome |
|
|
| Oliver Syndrome |
|
|
| Type 2 Diabetes Mellitus |
|
|
| Hajdu-Cheney Syndrome |
|
|
| Alagille Syndrome 1 |
|
|
| Aplasia Cutis Congenita |
|
|
| Aortic Valve Disease 1 |
|
|
| Uruguay Faciocardiomusculoskeletal Syndrome |
|
|
| Spondylocostal Dysostosis |
|
|
| Endosteal Hyperostosis, Autosomal Dominant |
|
|
| Colorectal Cancer |
|
|
| Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1 |
|
|
| Tetralogy Of Fallot |
|
|
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 |