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Aliases for RBPJ Gene

Aliases for RBPJ Gene

  • Recombination Signal Binding Protein For Immunoglobulin Kappa J Region 2 3
  • IGKJRB1 3 4 6
  • RBPSUH 3 4 6
  • Renal Carcinoma Antigen NY-REN-30 3 4
  • RBP-J Kappa 3 4
  • IGKJRB 3 4
  • RBP-JK 3 4
  • CBF-1 3 4
  • RBP-J 3 4
  • RBPJK 3 4
  • AOS3 3 6
  • 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
  • CBF1 3
  • KBF2 3
  • SUH 3
  • Csl 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 4. Among its related pathways are Signaling by GPCR and Disease. GO annotations related to this gene include sequence-specific DNA binding transcription factor activity and protein N-terminus 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

Transcription factor binding sites by QIAGEN in the RBPJ gene promoter:

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for RBPJ Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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).
    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

Proteomics data for RBPJ Gene at MOPED

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 for RBPJ Gene

Suggested Antigen Peptide Sequences for RBPJ Gene

Graphical View of Domain Structure for InterPro Entry

Q06330

UniProtKB/Swiss-Prot:

SUH_HUMAN :
  • Q06330
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 RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity --
GO:0001077 RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription IDA 18663143
genes like me logo Genes that share ontologies with RBPJ: view
genes like me logo Genes that share phenotypes with RBPJ: view

Animal Models for RBPJ Gene

MGI Knock Outs for RBPJ:

Animal Model Products

CRISPR Products

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

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) and Transcription Factor Targeting 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 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 21102556
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 for RBPJ Gene

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

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

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 ISS --
GO:0001837 epithelial to mesenchymal transition ISS --
GO:0001974 blood vessel remodeling IEA --
GO:0002437 inflammatory response to antigenic stimulus IEA --
genes like me logo Genes that share ontologies with RBPJ: view

Compounds for RBPJ Gene

(1) Novoseek inferred chemical compound relationships for RBPJ Gene

Compound -log(P) Hits PubMed IDs
zinc 0 6
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:

CRISPR Products

Primer Products

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 for RBPJ Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for RBPJ Gene

SOURCE GeneReport for Unigene cluster for RBPJ Gene Hs.479396

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

In Situ Assay 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 35
  • 99.93 (n)
  • 100 (a)
RBPJ 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia RBPJ 35
  • 95.21 (n)
  • 99.59 (a)
RBPJ 36
  • 98 (a)
OneToOne
dog
(Canis familiaris)
Mammalia LOC479122 35
  • 94.18 (n)
  • 98.32 (a)
RBPJ 36
  • 98 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Rbpj 35
  • 90.83 (n)
  • 98.97 (a)
Rbpj 16
Rbpj 36
  • 93 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia RBPJ 36
  • 97 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia RBPJ 36
  • 95 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Rbpj 35
  • 91.76 (n)
  • 99.14 (a)
chicken
(Gallus gallus)
Aves RBPJ 35
  • 87.26 (n)
  • 97.41 (a)
RBPJ 36
  • 96 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia RBPJ 36
  • 90 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.2907 35
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100491789 35
  • 82.42 (n)
  • 95.6 (a)
Str.10131 35
zebrafish
(Danio rerio)
Actinopterygii rbpjb 35
  • 78.71 (n)
  • 94.84 (a)
rbpjb 36
  • 90 (a)
OneToOne
rbpsuh 35
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008935 35
  • 63.36 (n)
  • 78.15 (a)
fruit fly
(Drosophila melanogaster)
Insecta Su(H) 35
  • 66.81 (n)
  • 79.87 (a)
Su(H) 36
  • 60 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea lag-1 35
  • 60.14 (n)
  • 61.35 (a)
lag-1 36
  • 38 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.2779 35
sea squirt
(Ciona savignyi)
Ascidiacea CSA.11329 36
  • 65 (a)
OneToOne
Species with no ortholog for RBPJ:
  • 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

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 MAF
rs907273 -- 26,325,847(-) CCCTT(A/T)GTCTT intron-variant
rs946346 -- 26,429,764(-) TAAAG(C/T)ATGGT intron-variant
rs953324 -- 26,300,568(+) GGCGG(C/T)TGACC intron-variant
rs967412 -- 26,349,089(-) cgcgc(A/G)cACAC intron-variant
rs967501 -- 26,353,221(-) TCATA(G/T)ACAAT intron-variant

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

Variant ID Type Subtype PubMed ID
nsv829889 CNV Loss 17160897

Relevant External Links for RBPJ Gene

HapMap Linkage Disequilibrium report
RBPJ
Human Gene Mutation Database (HGMD)
RBPJ

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

Disorders for RBPJ Gene

(1) OMIM Diseases for RBPJ Gene (147183)

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.

(2) University of Copenhagen DISEASES for RBPJ Gene

(2) Novoseek inferred disease relationships for RBPJ Gene

Disease -log(P) Hits PubMed IDs
cancer 4.24 1
tumors 0 1

Relevant External Links for RBPJ

Genetic Association Database (GAD)
RBPJ
Human Genome Epidemiology (HuGE) Navigator
RBPJ
genes like me logo Genes that share disorders with RBPJ: view

Publications for RBPJ Gene

  1. 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 23
  2. Structural basis for cooperativity in recruitment of MAML coactivators to Notch transcription complexes. (PMID: 16530044) Nam Y. … Blacklow S.C. (Cell 2006) 3 4 23
  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
  4. CIR, a corepressor linking the DNA binding factor CBF1 to the histone deacetylase complex. (PMID: 9874765) Hsieh J.J.-D. … Hayward S.D. (Proc. Natl. Acad. Sci. U.S.A. 1999) 3 4
  5. Antigens recognized by autologous antibody in patients with renal- cell carcinoma. (PMID: 10508479) Scanlan M.J. … Old L.J. (Int. J. Cancer 1999) 3 4

Products for RBPJ Gene

Sources for RBPJ Gene

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