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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 (Recombination Signal Binding Protein For Immunoglobulin Kappa J Region) is a Protein Coding gene. Diseases associated with RBPJ include Adams-Oliver Syndrome 3 and Adams-Oliver Syndrome. Among its related pathways are Signaling by GPCR and Development NOTCH1-mediated pathway for NF-KB activity modulation. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and chromatin binding. An important paralog of this gene is RBPJL.
GeneHancer (GH) Identifier | GH Type | GH Score |
GH Sources | Gene Association Score | Total Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites |
Gene Targets |
---|---|---|---|---|---|---|---|---|---|---|
GH04J026318 | Promoter/Enhancer | 2.2 | EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER | 600.1 | +157.8 | 157846 | 6.2 | BRCA1 ARHGAP35 SP1 CREB1 GATAD2A TEAD4 PRDM10 ZNF629 IKZF1 NFKBIZ | lnc-CCKAR-10 RBPJ CCKAR HSALNG0033476 | |
GH04J026362 | Promoter/Enhancer | 0.5 | EPDnew dbSUPER | 600.1 | +199.0 | 198966 | 0.1 | RBPJ lnc-CCKAR-10 HSALNG0033476 CCKAR | ||
GH04J026162 | Enhancer | 0.3 | Ensembl | 600.7 | -0.6 | -554 | 0.2 | CREB1 ATF2 | RBPJ HSALNG0033465 LOC105374541 SEL1L3 | |
GH04J026163 | Promoter | 0.3 | EPDnew | 600.7 | 0.0 | -16 | 0.1 | RBPJ HSALNG0033465 LOC105374541 SEL1L3 | ||
GH04J026164 | Enhancer | 0.2 | Ensembl | 600.7 | +0.7 | 746 | 0.8 | RBPJ piR-57176-493 LOC105374541 CCKAR |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000978 | RNA polymerase II proximal promoter sequence-specific DNA binding | IDA | 16691198 |
GO:0000981 | DNA-binding transcription factor activity, RNA polymerase II-specific | ISM | 19274049 |
GO:0001103 | RNA polymerase II repressing transcription factor binding | IBA,IPI | 16287852 |
GO:0001228 | DNA-binding transcription activator activity, RNA polymerase II-specific | IDA | 18663143 |
GO:0003677 | DNA binding | TAS | 9874765 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000790 | nuclear chromatin | ISA | -- |
GO:0002193 | MAML1-RBP-Jkappa- ICN1 complex | IBA,IDA | 16510869 |
GO:0005634 | nucleus | IBA,IDA | 9874765 |
GO:0005654 | nucleoplasm | TAS | -- |
GO:0005667 | transcription factor complex | IEA,IBA | 21873635 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Signaling by NOTCH1 | ||
2 | Notch Signaling Pathway (WikiPathways) | ||
3 | Pre-NOTCH Expression and Processing | ||
4 | HIV Life Cycle |
.45
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5 | Gene Expression |
.48
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GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000122 | negative regulation of transcription by RNA polymerase II | IEA,ISS | -- |
GO:0001525 | angiogenesis | IEA,ISS | -- |
GO:0001756 | somitogenesis | IEA | -- |
GO:0001837 | epithelial to mesenchymal transition | IEA,ISS | -- |
GO:0001974 | blood vessel remodeling | IEA | -- |
ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3a | · | 3b | · | 3c | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11a | · | 11b | · | 11c | ^ | 12a | · | 12b | ^ | 13a | · | 13b | ^ | 14a | · | 14b | ^ | 15 | ^ | 16a | · | 16b | ^ | 17 | ^ |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||
SP2: | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
SP3: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
SP4: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
SP5: | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
SP6: | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||
SP7: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
SP8: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
SP9: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP10: | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
SP11: |
ExUns: | 18 |
---|---|
SP1: | |
SP2: | |
SP3: | |
SP4: | |
SP5: | |
SP6: | |
SP7: | |
SP8: | |
SP9: | |
SP10: | |
SP11: |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | RBPJ 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | RBPJ 31 |
|
OneToOne | |
LOC479122 30 |
|
||||
Oppossum (Monodelphis domestica) |
Mammalia | RBPJ 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | RBPJ 30 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | RBPJ 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Rbpj 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Rbpj 30 17 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | RBPJ 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | RBPJ 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | LOC100491789 30 |
|
||
Str.10131 30 |
|
||||
African clawed frog (Xenopus laevis) |
Amphibia | Xl.2907 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | rbpjb 30 31 |
|
OneToOne | |
rbpsuh 30 |
|
||||
Fruit Fly (Drosophila melanogaster) |
Insecta | Su(H) 30 31 |
|
OneToMany | |
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP008935 30 |
|
||
Worm (Caenorhabditis elegans) |
Secernentea | lag-1 30 31 |
|
OneToMany | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.11329 31 |
|
OneToOne | |
Sea Vase (Ciona intestinalis) |
Ascidiacea | Cin.2779 30 |
|
SNP ID | Clinical significance and condition | Chr 04 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
721050 | Likely Benign: not provided | 26,415,577(+) | G/T | SYNONYMOUS_VARIANT | |
722717 | Likely Benign: not provided | 26,430,989(+) | A/G | SYNONYMOUS_VARIANT | |
727534 | Likely Benign: not provided | 26,430,047(+) | C/T | SYNONYMOUS_VARIANT | |
731693 | Likely Benign: not provided | 26,430,954(+) | G/A | MISSENSE_VARIANT | |
734121 | Benign: not provided | 26,430,032(+) | G/A | SYNONYMOUS_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
nsv1073315 | CNV | deletion | 25765185 |
nsv1141985 | OTHER | inversion | 24896259 |
nsv829889 | CNV | loss | 17160897 |
nsv950561 | CNV | duplication | 24416366 |
nsv950562 | CNV | duplication | 24416366 |
Disorder | Aliases | PubMed IDs |
---|---|---|
adams-oliver syndrome 3 |
|
|
adams-oliver syndrome |
|
|
oliver syndrome |
|
|
alagille syndrome 1 |
|
|
hajdu-cheney syndrome |
|
|