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

  • Recombination Signal Binding Protein For Immunoglobulin Kappa J Region Like 2 3 5
  • Recombining Binding Protein Suppressor Of Hairless-Like Protein 3 4
  • Transcription Factor RBP-L 3 4
  • RBPSUHL 3 4
  • RBPL 3 4
  • SUHL 2 3
  • Recombination Signal Binding Protein For Immunoglobulin Kappa J Region-Like 2
  • Recombining Binding Protein Suppressor Of Hairless (Drosophila)-Like 2
  • RBPJL 5
  • RBP-L 2
  • SUH 2

External Ids for RBPJL Gene

Previous HGNC Symbols for RBPJL Gene

  • RBPSUHL

Previous GeneCards Identifiers for RBPJL Gene

  • GC20P043369
  • GC20P043935
  • GC20P040677

Summaries for RBPJL Gene

Entrez Gene Summary 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

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
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
GH20J045306 Promoter/Enhancer 1.1 EPDnew Ensembl 600.7 -0.1 -141 0.6 HNRNPL CTCF ZBTB33 KDM1A MTA2 ZNF143 TRIM22 NRF1 MGA MTA3 MATN4 RBPJL piR-50444-279 SLPI
GH20J045309 Promoter/Enhancer 0.9 EPDnew Ensembl ENCODE 600.7 +1.6 1565 0.8 HNRNPL CTCF ZNF143 MATN4 RBPJL SLPI
GH20J045032 Enhancer 1.5 Ensembl ENCODE CraniofacialAtlas dbSUPER 10.2 -263.2 -263235 22.4 CEBPG SP1 CTCF ATF7 PRDM10 ZNF629 RFX5 ZNF692 ZNF174 BACH1 KCNS1 WFDC5 PABPC1L MATN4 RBPJL STK4 WFDC12 YWHAB RF00782 piR-43105-383
GH20J045334 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 5.1 +35.2 35244 14.4 HNRNPL CREB1 GATAD2A ATF7 TEAD4 PRDM10 ZNF629 REST TFE3 LEF1 SDC4 NCOA5 ZSWIM1 ZNF335 PCIF1 SNX21 CD40 DBNDD2 SYS1-DBNDD2 KCNK15
GH20J045353 Enhancer 0.9 ENCODE dbSUPER 11 +48.1 48112 2 JUND FOXA1 PRDM1 SP1 ZNF600 SCRT2 RBAK SP2 CEBPB FOXA2 DBNDD2 NCOA5 TP53TG5 PIGT SYS1 MATN4 RBPJL SDC4
- 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:
RBPJL Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RBPJL Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene 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
    Secondary Accessions:
    • 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).

    Alternative splice isoforms for RBPJL Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for RBPJL Gene

Post-translational modifications for RBPJL Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

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

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

UniProtKB/Swiss-Prot:

RBPJL_HUMAN :
  • Belongs to the Su(H) family.
Family:
  • Belongs to the Su(H) family.
genes like me logo Genes that share domains with RBPJL: view

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

Gene Ontology (GO) - Molecular Function 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 --
genes like me logo Genes that share ontologies with RBPJL: view
genes like me logo Genes that share phenotypes with RBPJL: view

Animal Models for RBPJL Gene

MGI Knock Outs for RBPJL:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products 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

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for RBPJL gene
Compartment Confidence
nucleus 4
cytosol 2
plasma membrane 1
extracellular 1
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for RBPJL Gene

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
genes like me logo Genes that share ontologies with RBPJL: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for RBPJL Gene

Pathways & Interactions for RBPJL Gene

genes like me logo Genes that share pathways with RBPJL: view

Pathways by source for RBPJL Gene

Gene Ontology (GO) - Biological Process for RBPJL Gene

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 --
genes like me logo Genes that share ontologies with RBPJL: view

No data available for SIGNOR curated interactions for RBPJL Gene

Drugs & Compounds for RBPJL Gene

No Compound Related Data Available

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 :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RBPJL

Alternative Splicing Database (ASD) splice patterns (SP) for RBPJL Gene

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 normal human tissues from GTEx, Illumina, BioGPS, and SAGE for RBPJL Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for RBPJL Gene

This gene is overexpressed in Pancreas (x52.6).

Protein differential expression in normal tissues from HIPED for RBPJL Gene

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



Protein tissue co-expression partners for RBPJL Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for RBPJL

SOURCE GeneReport for Unigene cluster for RBPJL Gene:

Hs.248217

Evidence on tissue expression from TISSUES for RBPJL Gene

  • Pancreas(3.4)
genes like me logo Genes that share expression patterns with RBPJL: view

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.

Orthologs for RBPJL Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia RBPJL 30 31
  • 99.74 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia RBPJL 31
  • 91 (a)
OneToOne
Cow
(Bos Taurus)
Mammalia RBPJL 30 31
  • 87.98 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Rbpjl 30
  • 86.02 (n)
Mouse
(Mus musculus)
Mammalia Rbpjl 30 17 31
  • 86.02 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia RBPJL 31
  • 83 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia RBPJL 31
  • 61 (a)
OneToOne
Chicken
(Gallus gallus)
Aves RBPJL 30 31
  • 73.64 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia RBPJL 31
  • 65 (a)
OneToOne
Zebrafish
(Danio rerio)
Actinopterygii rbpjl 30 31
  • 65.22 (n)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta Su(H) 31
  • 41 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea lag-1 31
  • 30 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 43 (a)
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

Paralogs for RBPJL Gene

(2) SIMAP similar genes for RBPJL Gene using alignment to 2 proteins:

  • RBPJL_HUMAN
  • Q5QPV1_HUMAN
genes like me logo Genes that share paralogs with RBPJL: view

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

Additional dbSNP identifiers (rs#s) for RBPJL Gene

Structural Variations from Database of Genomic Variants (DGV) for RBPJL Gene

Variant ID Type Subtype PubMed ID
esv3645928 CNV gain 21293372
nsv1056102 CNV loss 25217958
nsv1056815 CNV loss 25217958
nsv1057759 CNV gain 25217958

Variation tolerance for RBPJL Gene

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

MalaCards: The human disease database

(1) MalaCards diseases for RBPJL Gene - From: ClinVar and DISEASES

Disorder Aliases PubMed IDs
diabetes mellitus, noninsulin-dependent
  • niddm
- elite association - COSMIC cancer census association via MalaCards
Search RBPJL in MalaCards View complete list of genes associated with diseases
genes like me logo Genes that share disorders with RBPJL: view

No data available for UniProtKB/Swiss-Prot and Genatlas for RBPJL Gene

Publications for RBPJL Gene

  1. The DNA sequence and comparative analysis of human chromosome 20. (PMID: 11780052) Deloukas P … Rogers J (Nature 2001) 3 4
  2. 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
  3. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3
  4. 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
  5. 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

Products for RBPJL Gene

Sources for RBPJL Gene