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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 a... See more...
Aliases for RBPJL Gene
Aliases for RBPJL Gene
External Ids for RBPJL Gene
- HGNC: 13761
- Entrez Gene: 11317
- Ensembl: ENSG00000124232
- OMIM: 616104
- UniProtKB: Q9UBG7
Previous HGNC Symbols for RBPJL Gene
- RBPSUHL
Previous GeneCards Identifiers for RBPJL Gene
- GC20P043369
- GC20P043935
- GC20P040677
Summaries for RBPJL Gene
-
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]
GeneCards Summary for RBPJL Gene
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.
UniProtKB/Swiss-Prot Summary for RBPJL Gene
-
Putative transcription factor, which cooperates with EBNA2 to activate transcription.
Additional gene information for RBPJL Gene
- HGNC(13761)
- Entrez Gene(11317)
- Ensembl(ENSG00000124232)
- OMIM(616104)
- UniProtKB(Q9UBG7)
- Open Targets Platform(ENSG00000124232)
- Search for RBPJL at DataMed
- Search for RBPJL at HumanCyc
No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for RBPJL Gene
Genomics for RBPJL Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for RBPJL Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around RBPJL on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for RBPJL
- Top Transcription factor binding sites by QIAGEN in the RBPJL gene promoter:
-
- AhR
- Arnt
- E2F
- E2F-1
- E2F-2
- E2F-3a
- E2F-4
- E2F-5
- HTF
- Olf-1
Genomic Locations for RBPJL Gene
Genomic Locations for RBPJL Gene
- chr20:45,306,836-45,319,677
- (GRCh38/hg38)
- Size:
- 12,842 bases
- Orientation:
- Plus strand
- chr20:43,935,491-43,946,464
- (GRCh37/hg19)
- Size:
- 10,974 bases
- Orientation:
- Plus strand
Genomic View for RBPJL Gene
Genes around RBPJL on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 20q13.12 by HGNC
- 20q13.12 by Entrez Gene
- 20q13.12 by Ensembl
RBPJL Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for RBPJL Gene
Proteins for RBPJL Gene
-
Protein details for RBPJL Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q9UBG7-RBPJL_HUMAN
- Recommended name:
- Recombining binding protein suppressor of hairless-like protein
- Protein Accession:
- Q9UBG7
- O95723
- Q5QPU9
- Q5QPV0
- Q9ULV9
Protein attributes for RBPJL Gene
- Size:
- 517 amino acids
- Molecular mass:
- 56751 Da
- Quaternary structure:
-
- Interacts weakly with EBNA2. Does not interact with any Notch proteins (By similarity).
Protein Expression for RBPJL Gene
Post-translational modifications for RBPJL Gene
Other Protein References for RBPJL Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- G Biosciences Immunotag™ RBPJL Antibody
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- Invitrogen Antibodies for RBPJL (AFLGC-RBPJL)
-
Biorbyt antibodies for RBPJL
-
Boster Bio Antibodies for RBPJL
Protein Products
-
OriGene Purified Proteins for RBPJL
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- Origene Custom Protein Services for RBPJL
- antibodies-online: Show 3 available RBPJL Proteins ranked by validation data
- Compare Top RBPJL Proteins
-
Quality Products:
-
Abcam proteins for RBPJL
No data available for DME Specific Peptides for RBPJL Gene
Domains & Families for RBPJL Gene
Gene Families for RBPJL Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Predicted intracellular proteins
- Transcription factors
Protein Domains for RBPJL Gene
Suggested Antigen Peptide Sequences for RBPJL Gene
- GenScript: Design optimal peptide antigens:
-
- Transcription factor RBP-L (RBPJL_HUMAN)
Graphical View of Domain Structure for InterPro Entry
Q9UBG7- Family:
-
- Belongs to the Su(H) family.
Function for RBPJL Gene
Molecular function for RBPJL Gene
- UniProtKB/Swiss-Prot Function:
- Putative transcription factor, which cooperates with EBNA2 to activate transcription.
Phenotypes From GWAS Catalog for RBPJL Gene
| 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 | -- |
Phenotypes for RBPJL Gene
- MGI mutant phenotypes for RBPJL:
- inferred from 2 alleles
- GenomeRNAi human phenotypes for RBPJL:
-
- no effect
- Synthetic lethal with MLN4924 (a NAE inhibitor)
- Increased viability with MLN4924 (a NAE inhibitor)
- shRNA abundance <= 50%
- Increased gamma-H2AX phosphorylation
- Negative genetic interaction between KRASG13D/+ and KRAS+/-
- Strongly decreased CFP-tsO45G cell surface transport
- Decreased vesicular stomatitis virus (VSV) infection
- Decreased viability after Maraba virus infection
Animal Models for RBPJL Gene
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for RBPJL - Select products 50% OFF >
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-
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-
Santa Cruz Biotechnology (SCBT) CRISPR for RBPJL
miRNA for RBPJL Gene
- miRTarBase miRNAs that target RBPJL
-
- hsa-miR-1303 (MIRT499169)
- hsa-miR-6734-5p (MIRT499170)
- hsa-miR-625-5p (MIRT499171)
- hsa-miR-6780b-5p (MIRT499172)
- hsa-miR-4725-3p (MIRT499173)
- hsa-miR-8085 (MIRT499174)
- hsa-miR-4271 (MIRT499175)
- hsa-miR-6731-5p (MIRT499176)
- hsa-miR-5196-5p (MIRT499177)
- hsa-miR-4747-5p (MIRT499178)
- hsa-miR-4644 (MIRT499179)
- hsa-miR-4306 (MIRT499180)
- hsa-miR-185-5p (MIRT499181)
- hsa-miR-3202 (MIRT499182)
- hsa-miR-6738-5p (MIRT499183)
- hsa-miR-5194 (MIRT499184)
- hsa-miR-1914-3p (MIRT499185)
- hsa-miR-423-5p (MIRT499186)
- hsa-miR-3184-5p (MIRT499187)
- hsa-miR-7515 (MIRT499188)
- hsa-miR-6794-5p (MIRT499189)
- hsa-miR-4716-3p (MIRT499190)
- hsa-miR-6856-5p (MIRT499191)
- hsa-miR-6760-5p (MIRT499192)
- hsa-miR-6758-5p (MIRT499193)
miRNA Products
Inhibitory RNA Products
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Clone Products
- Applied Biological Materials (abm): Clones for RBPJL - Select products 50% OFF >
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Cell Line Products
-
Horizon Cell Lines for RBPJL
No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for RBPJL Gene
Localization for RBPJL Gene
Subcellular locations from UniProtKB/Swiss-Prot for RBPJL Gene
- Nucleus.
| Compartment | Confidence |
|---|---|
| nucleus | 4 |
| cytosol | 2 |
| plasma membrane | 1 |
| extracellular | 1 |
| cytoskeleton | 1 |
| mitochondrion | 1 |
| endoplasmic reticulum | 1 |
| 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 |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for RBPJL Gene
Pathways & Interactions for RBPJL Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Notch Signaling Pathway (WikiPathways) | ||
| 2 | Measles | ||
| 3 | PI3K-Akt signaling pathway | ||
| 4 | Spinocerebellar ataxia | ||
| 5 | Th17 cell differentiation | ||
Pathways by source for RBPJL Gene
1 BioSystems pathway for RBPJL Gene
6 KEGG pathways for RBPJL Gene
Interacting Proteins for RBPJL Gene
Selected Interacting proteins:
Q9UBG7-RBPJL_HUMAN
ENSP00000341243
for RBPJL Gene via
UniProtKB
STRING
IID
GPS-Prot Interaction Network for RBPJL
| 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 | -- |
No data available for SIGNOR curated interactions for RBPJL Gene
Transcripts for RBPJL Gene
mRNA/cDNA for RBPJL Gene
- 3 REFSEQ mRNAs :
- 7 NCBI additional mRNA sequence :
- 5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000343694 2502 nts (view in UCSC)
- ENST00000372741 1636 nts (view in UCSC)
- ENST00000372743 1623 nts (view in UCSC)
- ENST00000464504 702 nts (view in UCSC)
- ENST00000622729 1661 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for RBPJL - Select products 50% OFF >
- * RBPJL CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for RBPJL
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-
Santa Cruz Biotechnology (SCBT) CRISPR for RBPJL
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for RBPJL
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Clone Products
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| 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: |
Relevant External Links for RBPJL Gene
- GeneLoc Exon Structure for
- RBPJL
Expression for RBPJL Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Pancreas (Endocrine System)
- Acinar Progenitor Cells Dorsal Pancreatic Bud
- Acinar Cells Pancreatic Acini
-
Epithelial Cells
- Acinar Progenitor Cells Dorsal Pancreatic Bud
- Acinar Cells Pancreatic Acini
mRNA differential expression in normal tissues according to GTEx for RBPJL Gene
This gene is overexpressed in Pancreas (x52.6).
This gene is overexpressed in Peripheral blood mononuclear cells (51.7) and Brain (13.8).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for RBPJL Gene
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for RBPJL
SOURCE GeneReport for Unigene cluster for RBPJL Gene:
Hs.248217Evidence on tissue expression from TISSUES for RBPJL Gene
- Pancreas(3.4)
Primer Products
-
OriGene qPCR primer pairs for RBPJL
Gene Expression Assay Products
No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for RBPJL Gene
Orthologs for RBPJL Gene
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 |
- Species where no ortholog for RBPJL was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- African malaria mosquito (Anopheles gambiae)
- Alicante grape (Vitis vinifera)
- Alpha proteobacteria (Wolbachia pipientis)
- Amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- Baker's yeast (Saccharomyces cerevisiae)
- Barley (Hordeum vulgare)
- Beta proteobacteria (Neisseria meningitidis)
- Bread mold (Neurospora crassa)
- Chromalveolata (Phytophthora infestans)
- Common water flea (Daphnia pulex)
- Corn (Zea mays)
- E. coli (Escherichia coli)
- Filamentous fungi (Aspergillus nidulans)
- Firmicute Bacteria (Streptococcus pneumoniae)
- Fission Yeast (Schizosaccharomyces pombe)
- Green Algae (Chlamydomonas reinhardtii)
- Honey Bee (Apis mellifera)
- K. Lactis Yeast (Kluyveromyces lactis)
- Loblloly Pine (Pinus taeda)
- Malaria Parasite (Plasmodium falciparum)
- Medicago Trunc (Medicago Truncatula)
- Moss (Physcomitrella patens)
- Orangutan (Pongo pygmaeus)
- Pig (Sus scrofa)
- Rainbow Trout (Oncorhynchus mykiss)
- Rice (Oryza sativa)
- Rice Blast Fungus (Magnaporthe grisea)
- Schistosome Parasite (Schistosoma mansoni)
- Sea Anemone (Nematostella vectensis)
- Sea Vase (Ciona intestinalis)
- Sea Urchin (Strongylocentrotus purpuratus)
- Sorghum (Sorghum bicolor)
- Soybean (Glycine max)
- Stem Rust Fungus (Puccinia graminis)
- Sugarcane (Saccharum officinarum)
- Thale Cress (Arabidopsis thaliana)
- Tomato (Lycopersicon esculentum)
- Toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- Tropical Clawed Frog (Silurana tropicalis)
- Wheat (Triticum aestivum)
Evolution for RBPJL Gene
- ENSEMBL:
- Gene Tree for RBPJL (if available)
- TreeFam:
- Gene Tree for RBPJL (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for RBPJL: view image
Paralogs for RBPJL Gene
Variants for RBPJL Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for RBPJL Gene
| 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 |
Residual Variation Intolerance Score:
85.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
4.73;
66.39% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for RBPJL Gene
- SNPedia medical, phenotypic, and genealogical associations of SNPs for
- RBPJL
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RBPJL Gene
Disorders for RBPJL Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| diabetes mellitus, noninsulin-dependent |
|
Search RBPJL in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for RBPJL
No data available for UniProtKB/Swiss-Prot and Genatlas for RBPJL Gene
Publications for RBPJL Gene
- The DNA sequence and comparative analysis of human chromosome 20. (PMID: 11780052) Deloukas P … Rogers J (Nature 2001) 3 4
- Chromosomal mapping of two RBP-J-related genes: Kyo-T and RBP-L. (PMID: 9929984) Tani S … Honjo T (Journal of human genetics 1999) 2 3
- A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3
- Functional and association analysis of an Amerindian-derived population-specific p.(Thr280Met) variant in RBPJL, a component of the PTF1 complex. (PMID: 29302047) Nair AK … Baier LJ (European journal of human genetics : EJHG 2018) 3
- Interactions of pathological hallmark proteins: tubulin polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PMID: 21832049) Oláh J … Ovádi J (The Journal of biological chemistry 2011) 3
ExternalLinks
Products for RBPJL Gene
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- antibodies-online: Show 13 available RBPJL Antibodies ranked by validation data
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- Boster Bio Antibodies for RBPJL
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Sources for RBPJL Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) ProtoNet
- (16) Blocks
- (17) MGI
- (18) IUBMB
- (19) KEGG
- (20) MINT
- (21) STRING
- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) ASD
- (28) SAGE
- (29) SOURCE
- (30) HomoloGene
- (31) PanEnsembl
- (32) euGenes
- (33) SGD
- (34) FlyBase
- (35) WormBase
- (36) Pseudogene
- (37) DGV
- (38) dbSNP
- (39) GenAtlas
- (40) HGMD
- (41) GAD
- (42) BGMUT
- (43) HuGE
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