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Aliases for RBPJ Gene

Aliases for RBPJ Gene

  • Recombination Signal Binding Protein For Immunoglobulin Kappa J Region 2 3 5
  • Renal Carcinoma Antigen NY-REN-30 3 4
  • RBP-J Kappa 3 4
  • IGKJRB1 3 4
  • RBPSUH 3 4
  • IGKJRB 3 4
  • RBP-JK 3 4
  • CBF-1 3 4
  • RBP-J 3 4
  • RBPJK 3 4
  • Immunoglobulin Kappa J Region Recombination Signal Binding Protein 1 3
  • Recombining Binding Protein Suppressor Of Hairless (Drosophila) 2
  • Recombining Binding Protein Suppressor Of Hairless 3
  • J Kappa-Recombination Signal-Binding Protein 4
  • Suppressor Of Hairless Homolog (Drosophila) 2
  • Suppressor Of Hairless Homolog 3
  • H-2K Binding Factor-2 3
  • AOS3 3
  • CBF1 3
  • KBF2 3
  • CSL 3
  • SUH 3

External Ids for RBPJ Gene

Previous HGNC Symbols for RBPJ Gene

  • IGKJRB1
  • RBPSUH

Previous GeneCards Identifiers for RBPJ Gene

  • GC04P025930
  • GC04P026321
  • GC04P025659

Summaries for RBPJ Gene

Entrez Gene Summary for RBPJ Gene

  • 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]

GeneCards Summary for RBPJ Gene

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 HIV Life Cycle and Notch signaling pathway (KEGG). GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding and chromatin binding. An important paralog of this gene is RBPJL.

UniProtKB/Swiss-Prot for RBPJ Gene

  • Transcriptional regulator that plays a central role in Notch signaling, a signaling pathway involved in cell-cell communication that regulates a broad spectrum of cell-fate determinations. Acts as a transcriptional repressor when it is not associated with Notch proteins. When associated with some NICD product of Notch proteins (Notch intracellular domain), it acts as a transcriptional activator that activates transcription of Notch target genes. Probably represses or activates transcription via the recruitment of chromatin remodeling complexes containing histone deacetylase or histone acetylase proteins, respectively. Specifically binds to the immunoglobulin kappa-type J segment recombination signal sequence. Binds specifically to methylated DNA. Binds to the oxygen responsive element of COX4I2 and activates its transcription under hypoxia conditions (4% oxygen) (PubMed:23303788).

Gene Wiki entry for RBPJ Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RBPJ Gene

Genomics for RBPJ Gene

Regulatory Elements for RBPJ Gene

Enhancers for RBPJ Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH04F026217 1.3 FANTOM5 Ensembl ENCODE 22.2 +55.0 54953 2.4 MAX CEBPG EBF1 EED CREM MTA2 HLF TRIM22 CEBPB EP300 RBPJ LOC105374545 GC04P026244
GH04F026073 1.2 FANTOM5 Ensembl ENCODE 21.6 -87.3 -87275 4.4 TBL1XR1 MAX BMI1 EBF1 RELA EGR1 CBX5 EED ZNF207 ETV6 RBPJ LOC105374540 LOC645481
GH04F026131 1.1 FANTOM5 ENCODE 17.6 -31.5 -31463 1.4 CTCF PKNOX1 TBL1XR1 EBF1 RAD21 RELA CBX5 EED ETV6 CREM RBPJ TBC1D19 LOC645481 LOC105374541
GH04F026071 0.5 FANTOM5 14 -91.6 -91557 0.1 MAX SPI1 RBPJ LOC105374540 LOC645481
GH04F026139 1.3 Ensembl ENCODE 12.1 -22.0 -22027 3.9 PKNOX1 ZFP64 ZNF133 ZNF266 ZBTB8A ZIC2 ZNF781 ZNF518A ATF2 PRDM12 RBPJ LOC105374541 LOC645481
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around RBPJ on UCSC Golden Path with GeneCards custom track

Genomic Location for RBPJ Gene

Chromosome:
4
Start:
26,163,455 bp from pter
End:
26,435,131 bp from pter
Size:
271,677 bases
Orientation:
Plus strand

Genomic View for RBPJ Gene

Genes around RBPJ on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RBPJ Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RBPJ Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RBPJ Gene

Proteins for RBPJ Gene

  • Protein details for RBPJ Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q06330-SUH_HUMAN
    Recommended name:
    Recombining binding protein suppressor of hairless
    Protein Accession:
    Q06330
    Secondary Accessions:
    • B4DY22
    • Q5XKH9
    • Q6P1N3

    Protein attributes for RBPJ Gene

    Size:
    500 amino acids
    Molecular mass:
    55637 Da
    Quaternary structure:
    • Interacts with activated NOTCH1, NOTCH2 or NOTCH3. Interacts with MINT/SHARP. This interaction may mediate the recruitment of large corepressor complexes containing proteins such as HDAC1, HDAC2, NCOR2, SAP30, FHL1/KYOT2 and CIR1. Interacts with EP300, MAML1 and PTF1A. Interacts with Epstein-Barr virus EBNA2, EBNA3, EBNA4 and EBNA6. Interacts with RITA1/C12orf52, leading to nuclear export, prevent the interaction between RBPJ and NICD product and subsequent down-regulation of the Notch signaling pathway. Interacts with SNW1. Interacts with CHCHD2 and CXXC5 (PubMed:23303788). Interacts with BEND6 (via BEN domain). Interacts with NKAPL (By similarity).
    SequenceCaution:
    • Sequence=AAA16254.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for RBPJ Gene

    Alternative splice isoforms for RBPJ Gene

neXtProt entry for RBPJ Gene

Post-translational modifications for RBPJ Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for RBPJ (RBPJ)

No data available for DME Specific Peptides for RBPJ Gene

Domains & Families for RBPJ Gene

Graphical View of Domain Structure for InterPro Entry

Q06330

UniProtKB/Swiss-Prot:

SUH_HUMAN :
  • Contains 1 IPT/TIG domain.
  • Belongs to the Su(H) family.
Domain:
  • Contains 1 IPT/TIG domain.
Family:
  • Belongs to the Su(H) family.
genes like me logo Genes that share domains with RBPJ: view

No data available for Gene Families for RBPJ Gene

Function for RBPJ Gene

Molecular function for RBPJ Gene

UniProtKB/Swiss-Prot Function:
Transcriptional regulator that plays a central role in Notch signaling, a signaling pathway involved in cell-cell communication that regulates a broad spectrum of cell-fate determinations. Acts as a transcriptional repressor when it is not associated with Notch proteins. When associated with some NICD product of Notch proteins (Notch intracellular domain), it acts as a transcriptional activator that activates transcription of Notch target genes. Probably represses or activates transcription via the recruitment of chromatin remodeling complexes containing histone deacetylase or histone acetylase proteins, respectively. Specifically binds to the immunoglobulin kappa-type J segment recombination signal sequence. Binds specifically to methylated DNA. Binds to the oxygen responsive element of COX4I2 and activates its transcription under hypoxia conditions (4% oxygen) (PubMed:23303788).

Gene Ontology (GO) - Molecular Function for RBPJ Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000150 recombinase activity NAS 8406481
GO:0000978 RNA polymerase II core promoter proximal region sequence-specific DNA binding IEA --
GO:0000979 RNA polymerase II core promoter sequence-specific DNA binding IEA --
GO:0000982 transcription factor activity, RNA polymerase II core promoter proximal region sequence-specific binding IEA --
GO:0001077 transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding IDA 18663143
genes like me logo Genes that share ontologies with RBPJ: view
genes like me logo Genes that share phenotypes with RBPJ: view

Human Phenotype Ontology for RBPJ Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for RBPJ Gene

MGI Knock Outs for RBPJ:

Animal Model Products

Targeted motifs for RBPJ Gene
HOMER Transcription Factor Regulatory Elements motif RBPJ
  • Consensus sequence: HTTTCCCASG Submotif: canonical Cell Type: Panc1 GEO ID: GSE47459

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) and Transcription Factor Targets for RBPJ Gene

Localization for RBPJ Gene

Subcellular locations from UniProtKB/Swiss-Prot for RBPJ Gene

Nucleus. Cytoplasm. Note=Mainly nuclear, upon interaction with RITA/C12orf52, translocates to the cytoplasm, down-regulating the Notch signaling pathway.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for RBPJ Gene COMPARTMENTS Subcellular localization image for RBPJ gene
Compartment Confidence
nucleus 5
cytosol 2
plasma membrane 2
cytoskeleton 1

Gene Ontology (GO) - Cellular Components for RBPJ Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002193 MAML1-RBP-Jkappa- ICN1 complex IDA 16510869
GO:0005634 nucleus IDA 9874765
GO:0005654 nucleoplasm TAS --
GO:0005667 transcription factor complex IEA --
GO:0005730 nucleolus IDA 9874765
genes like me logo Genes that share ontologies with RBPJ: view

Pathways & Interactions for RBPJ Gene

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

SIGNOR curated interactions for RBPJ Gene

Activates:
Inactivates:
Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for RBPJ Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription from RNA polymerase II promoter ISS --
GO:0001525 angiogenesis IEA,ISS --
GO:0001756 somitogenesis IEA --
GO:0001837 epithelial to mesenchymal transition IEA,ISS --
GO:0001974 blood vessel remodeling IEA --
genes like me logo Genes that share ontologies with RBPJ: view

Drugs & Compounds for RBPJ Gene

(1) Drugs for RBPJ Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with RBPJ: view

Transcripts for RBPJ Gene

Unigene Clusters for RBPJ Gene

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

Flow Cytometry Products

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

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:

Relevant External Links for RBPJ Gene

GeneLoc Exon Structure for
RBPJ
ECgene alternative splicing isoforms for
RBPJ

Expression for RBPJ Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for RBPJ Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for RBPJ Gene

This gene is overexpressed in Breast (59.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for RBPJ Gene



Protein tissue co-expression partners for RBPJ Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of RBPJ Gene:

RBPJ

SOURCE GeneReport for Unigene cluster for RBPJ Gene:

Hs.479396
genes like me logo Genes that share expression patterns with RBPJ: view

Primer Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for RBPJ Gene

Orthologs for RBPJ Gene

This gene was present in the common ancestor of animals.

Orthologs for RBPJ Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia RBPJ 34 35
  • 99.93 (n)
dog
(Canis familiaris)
Mammalia RBPJ 35
  • 98 (a)
OneToOne
LOC479122 34
  • 94.18 (n)
oppossum
(Monodelphis domestica)
Mammalia RBPJ 35
  • 97 (a)
OneToOne
cow
(Bos Taurus)
Mammalia RBPJ 34 35
  • 95.21 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia RBPJ 35
  • 95 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Rbpj 34
  • 91.76 (n)
mouse
(Mus musculus)
Mammalia Rbpj 34 16 35
  • 90.83 (n)
chicken
(Gallus gallus)
Aves RBPJ 34 35
  • 87.26 (n)
lizard
(Anolis carolinensis)
Reptilia RBPJ 35
  • 90 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100491789 34
  • 82.42 (n)
Str.10131 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.2907 34
zebrafish
(Danio rerio)
Actinopterygii rbpjb 34 35
  • 78.71 (n)
rbpsuh 34
fruit fly
(Drosophila melanogaster)
Insecta Su(H) 34 35
  • 66.81 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008935 34
  • 63.36 (n)
worm
(Caenorhabditis elegans)
Secernentea lag-1 34 35
  • 60.14 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.11329 35
  • 65 (a)
OneToOne
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.2779 34
Species where no ortholog for RBPJ was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • wheat (Triticum aestivum)

Evolution for RBPJ Gene

ENSEMBL:
Gene Tree for RBPJ (if available)
TreeFam:
Gene Tree for RBPJ (if available)

Paralogs for RBPJ Gene

Paralogs for RBPJ Gene

Pseudogenes.org Pseudogenes for RBPJ Gene

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

Variants for RBPJ Gene

Sequence variations from dbSNP and Humsavar for RBPJ Gene

SNP ID Clin Chr 04 pos Sequence Context AA Info Type
rs387907270 Adams-Oliver syndrome 3 (AOS3) [MIM:614814], Pathogenic 26,406,264(+) AAATG(A/G)AAAAA reference, missense
rs387907271 Adams-Oliver syndrome 3 (AOS3) [MIM:614814], Pathogenic 26,420,695(+) CTTCC(A/G)AAAAG reference, missense
rs10000787 -- 26,173,138(+) tcttt(C/G)ttttt intron-variant
rs10000798 -- 26,173,177(+) GTTGC(C/T)CAGGC intron-variant
rs10000896 -- 26,173,299(+) CCCGG(A/C)TAATT intron-variant

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

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

Variation tolerance for RBPJ Gene

Residual Variation Intolerance Score: 25.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.01; 20.78% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for RBPJ Gene

Human Gene Mutation Database (HGMD)
RBPJ
SNPedia medical, phenotypic, and genealogical associations of SNPs for
RBPJ

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

Disorders for RBPJ Gene

MalaCards: The human disease database

(9) MalaCards diseases for RBPJ Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
adams-oliver syndrome 3
  • aos3
adams-oliver syndrome
  • adams oliver syndrome
adams-oliver syndrome 4
  • aos4
oliver syndrome
  • postaxial polydactyly mental retardation
cadasil
  • cadasil syndrome
- elite association - COSMIC cancer census association via MalaCards
Search RBPJ in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

SUH_HUMAN
  • Adams-Oliver syndrome 3 (AOS3) [MIM:614814]: An autosomal dominant form of Adams-Oliver syndrome, a disorder characterized by the congenital absence of skin (aplasia cutis congenita) in combination with transverse limb defects. Aplasia cutis congenita can be located anywhere on the body, but in the vast majority of the cases, it is present on the posterior parietal region where it is often associated with an underlying defect of the parietal bones. Limb abnormalities are typically limb truncation defects affecting the distal phalanges or entire digits (true ectrodactyly). Only rarely, metatarsals/metacarpals or more proximal limb structures are also affected. Apart from transverse limb defects, syndactyly, most commonly of second and third toes, can also be observed. The clinical features are highly variable and can also include cardiovascular malformations, brain abnormalities and vascular defects such as cutis marmorata and dilated scalp veins. AOS3 patients manifest characteristic vertex scalp defects and terminal limb defects, but without congenital heart defects, other associated defects, or immune defects. {ECO:0000269 PubMed:22883147}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for RBPJ

Genetic Association Database (GAD)
RBPJ
Human Genome Epidemiology (HuGE) Navigator
RBPJ
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
RBPJ
genes like me logo Genes that share disorders with RBPJ: view

No data available for Genatlas for RBPJ Gene

Publications for RBPJ Gene

  1. Structural basis for cooperativity in recruitment of MAML coactivators to Notch transcription complexes. (PMID: 16530044) Nam Y. … Blacklow S.C. (Cell 2006) 3 4 22 64
  2. Assignment of the human gene for KBF2/RBP-Jk to chromosome 9p12-13 and 9q13 by fluorescence in situ hybridization. (PMID: 9290259) Tang X. … Yokoyama K.K. (Jpn. J. Hum. Genet. 1997) 2 3 22 64
  3. Human Jk recombination signal binding protein gene (IGKJRB): comparison with its mouse homologue. (PMID: 8406481) Amakawa R. … Honjo T. (Genomics 1993) 2 3 4 64
  4. Oxygen-dependent expression of cytochrome c oxidase subunit 4-2 gene expression is mediated by transcription factors RBPJ, CXXC5 and CHCHD2. (PMID: 23303788) Aras S. … Grossman L.I. (Nucleic Acids Res. 2013) 3 4 64
  5. RBPJ mutations identified in two families affected by Adams-Oliver syndrome. (PMID: 22883147) Hassed S.J. … Gaffney P.M. (Am. J. Hum. Genet. 2012) 3 4 64

Products for RBPJ Gene

Sources for RBPJ Gene

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