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Aliases for RBPJL Gene

Aliases for RBPJL Gene

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

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. Among its related pathways are PI3K-Akt signaling pathway 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 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 , fRNAdb sequence ontologies and piRNA Summary for RBPJL Gene

Genomics for RBPJL Gene

GeneHancer (GH) Regulatory Elements for RBPJL Gene

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
GH20I045306 Promoter/Enhancer 1.2 EPDnew Ensembl 550.8 0.0 -45 1.1 CTCF RB1 BACH1 RAD21 MTA3 E2F8 EGR1 ZNF143 RNF2 ZBTB2 MATN4 RBPJL SLPI
GH20I045305 Promoter 0.8 EPDnew 550.8 -1.2 -1230 0.1 CTCF ZNF263 ZNF143 ZNF444 NFXL1 MATN4 RBPJL SLPI
GH20I045308 Promoter 0.7 EPDnew 550.8 +1.5 1495 0.1 CTCF ZNF143 EZH2 MATN4 RBPJL SLPI
GH20I045309 Enhancer 0.4 ENCODE 550.8 +1.4 1382 0.1 CTCF ZNF143 EZH2 MATN4 RBPJL
GH20I045334 Promoter/Enhancer 2.8 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 5.1 +35.3 35256 14.4 CLOCK MLX ZFP64 DMAP1 YY1 ZNF143 SP3 NFYC SSRP1 GLIS1 SDC4 NCOA5 PCIF1 ZNF335 ZSWIM1 CD40 SPATA25 ENSG00000271984 SNX21 DBNDD2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around RBPJL on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the RBPJL gene promoter:

Genomic Locations for RBPJL Gene

Genomic Locations for RBPJL Gene
chr20:45,306,824-45,319,677
(GRCh38/hg38)
Size:
12,854 bases
Orientation:
Plus strand
chr20:43,935,491-43,946,464
(GRCh37/hg19)

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

No Post-translational modifications

No data available for DME Specific Peptides for RBPJL Gene

Domains & Families for RBPJL Gene

Gene Families for RBPJL Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Transcription factors

Suggested Antigen Peptide Sequences for RBPJL Gene

GenScript: Design optimal peptide antigens:

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.

Gene Ontology (GO) - Molecular Function for RBPJL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000978 RNA polymerase II proximal promoter sequence-specific DNA binding IEA --
GO:0000982 transcription factor activity, RNA polymerase II proximal promoter sequence-specific DNA binding IEA --
GO:0001228 transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific DNA binding IEA --
GO:0003677 DNA binding IEA --
GO:0003682 chromatin 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

Clone Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , 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 5
cytosol 2

Gene Ontology (GO) - Cellular Components for RBPJL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005667 transcription factor complex IEA --
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:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006357 regulation of transcription by RNA polymerase II IEA --
GO:0006366 transcription by RNA polymerase II IEA --
GO:0007165 signal transduction TAS 9929984
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

Unigene Clusters for RBPJL Gene

Recombination signal binding protein for immunoglobulin kappa J region-like:
Representative Sequences:

Clone Products

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
ECgene alternative splicing isoforms for
RBPJL

Expression for RBPJL Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, and MOPED for RBPJL Gene



Protein tissue co-expression partners for RBPJL Gene

NURSA nuclear receptor signaling pathways regulating expression of RBPJL Gene:

RBPJL

SOURCE GeneReport for Unigene cluster for RBPJL Gene:

Hs.248217

Evidence on tissue expression from TISSUES for RBPJL Gene

  • Pancreas(3)
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 33 34
  • 99.74 (n)
dog
(Canis familiaris)
Mammalia RBPJL 34
  • 91 (a)
OneToOne
cow
(Bos Taurus)
Mammalia RBPJL 33 34
  • 87.98 (n)
mouse
(Mus musculus)
Mammalia Rbpjl 33 16 34
  • 86.02 (n)
rat
(Rattus norvegicus)
Mammalia Rbpjl 33
  • 86.02 (n)
oppossum
(Monodelphis domestica)
Mammalia RBPJL 34
  • 83 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia RBPJL 34
  • 61 (a)
OneToOne
chicken
(Gallus gallus)
Aves RBPJL 33 34
  • 73.64 (n)
lizard
(Anolis carolinensis)
Reptilia RBPJL 34
  • 65 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii rbpjl 33 34
  • 65.22 (n)
fruit fly
(Drosophila melanogaster)
Insecta Su(H) 34
  • 41 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea lag-1 34
  • 30 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 43 (a)
OneToOne
Species where no ortholog for RBPJL was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 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)

Paralogs for RBPJL Gene

Paralogs for RBPJL Gene

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

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

Variants for RBPJL Gene

Sequence variations from dbSNP and Humsavar for RBPJL Gene

SNP ID Clin Chr 20 pos Variation AA Info Type
rs1000519809 -- 45,317,741(+) C/T 3_prime_UTR_variant, genic_downstream_transcript_variant, non_coding_transcript_variant
rs1000751678 -- 45,307,612(+) T/A intron_variant
rs1001340877 -- 45,319,245(+) C/T genic_downstream_transcript_variant, non_coding_transcript_variant
rs1001417372 -- 45,313,410(+) C/G intron_variant
rs1001471688 -- 45,312,835(+) A/G intron_variant

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

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RBPJL Gene

Disorders for RBPJL Gene

Additional Disease Information for RBPJL

No disorders were found for RBPJL Gene.

No data available for MalaCards , 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 58
  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 58
  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 58
  4. p/CAF modulates the activity of the transcription factor p48/Ptf1a involved in pancreatic acinar differentiation. (PMID: 18834332) Rodolosse A … Real FX (The Biochemical journal 2009) 3 58
  5. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PMID: 16344560) Kimura K … Sugano S (Genome research 2006) 3 58

Products for RBPJL Gene

Sources for RBPJL Gene

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