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This gene encodes a member of the suppressor of hairless protein family. A similar protein in mouse is a transcription factor that binds to DNA sequences almost identical to that bound by the Notch receptor signaling pathway transcription factor recombining binding protein J. The mouse protein has been shown to activate transcription in concert with Epstein-Barr virus nuclear antigen-2. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
RBPJL (Recombination Signal Binding Protein For Immunoglobulin Kappa J Region Like) is a Protein Coding gene. Diseases associated with RBPJL include Diabetes Mellitus, Noninsulin-Dependent. Among its related pathways are Spinocerebellar ataxia and Th17 cell differentiation. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and transcription factor activity, RNA polymerase II proximal promoter sequence-specific DNA binding. An important paralog of this gene is RBPJ.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000977 | RNA polymerase II regulatory region sequence-specific DNA binding | IEA | -- |
GO:0000978 | RNA polymerase II proximal promoter sequence-specific DNA binding | IEA | -- |
GO:0000981 | DNA-binding transcription factor activity, RNA polymerase II-specific | ISM | 19274049 |
GO:0001228 | DNA-binding transcription activator activity, RNA polymerase II-specific | IEA | -- |
GO:0003677 | DNA binding | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000790 | nuclear chromatin | ISA | -- |
GO:0005634 | nucleus | IBA | 21873635 |
GO:0005667 | transcription factor complex | IEA,IBA | 21873635 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Notch Signaling Pathway (WikiPathways) | ||
2 | Measles | ||
3 | PI3K-Akt signaling pathway | ||
4 | Spinocerebellar ataxia | ||
5 | Th17 cell differentiation |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006355 | regulation of transcription, DNA-templated | IEA | -- |
GO:0006357 | regulation of transcription by RNA polymerase II | IEA | -- |
GO:0007165 | signal transduction | TAS | 9929984 |
GO:0045893 | positive regulation of transcription, DNA-templated | IEA | -- |
GO:0045944 | positive regulation of transcription by RNA polymerase II | IEA | -- |
ExUns: | 1 | ^ | 2 | ^ | 3a | · | 3b | ^ | 4a | · | 4b | ^ | 5a | · | 5b | · | 5c | ^ | 6a | · | 6b | ^ | 7 | ^ | 8a | · | 8b | · | 8c | ^ | 9 | ^ | 10a | · | 10b | ^ | 11a | · | 11b | ^ | 12a | · | 12b | · | 12c |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | ||||||||||||||||||||||||||||||||||||||||||
SP2: | - | - | |||||||||||||||||||||||||||||||||||||||||||
SP3: | - | ||||||||||||||||||||||||||||||||||||||||||||
SP4: | - | - | |||||||||||||||||||||||||||||||||||||||||||
SP5: | - | ||||||||||||||||||||||||||||||||||||||||||||
SP6: | |||||||||||||||||||||||||||||||||||||||||||||
SP7: |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | RBPJL 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | RBPJL 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | RBPJL 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Rbpjl 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Rbpjl 30 17 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | RBPJL 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | RBPJL 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | RBPJL 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | RBPJL 31 |
|
OneToOne | |
Zebrafish (Danio rerio) |
Actinopterygii | rbpjl 30 31 |
|
OneToOne | |
Fruit Fly (Drosophila melanogaster) |
Insecta | Su(H) 31 |
|
OneToMany | |
Worm (Caenorhabditis elegans) |
Secernentea | lag-1 31 |
|
OneToMany | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 20 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
783865 | Benign: not provided | 45,309,644(+) | G/A | MISSENSE_VARIANT | |
783866 | Benign: not provided | 45,316,737(+) | C/A | MISSENSE_VARIANT,SYNONYMOUS_VARIANT | |
783867 | Benign: not provided | 45,316,847(+) | T/C | MISSENSE_VARIANT,THREE_PRIME_UTR_VARIANT | |
rs11698812 | Benign: Diabetes mellitus type 2 | 45,319,581(+) | A/C | ||
rs138228405 | Benign: Diabetes mellitus type 2 | 45,307,662(+) | C/G | INTRON_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv3645928 | CNV | gain | 21293372 |
nsv1056102 | CNV | loss | 25217958 |
nsv1056815 | CNV | loss | 25217958 |
nsv1057759 | CNV | gain | 25217958 |
Disorder | Aliases | PubMed IDs |
---|---|---|
diabetes mellitus, noninsulin-dependent |
|