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RBPJ recombination signal binding protein for immunoglobulin kappa J region [ Homo sapiens (human) ]

Gene ID: 3516, updated on 4-Jan-2025

Summary

Official Symbol
RBPJprovided by HGNC
Official Full Name
recombination signal binding protein for immunoglobulin kappa J regionprovided by HGNC
Primary source
HGNC:HGNC:5724
See related
Ensembl:ENSG00000168214 MIM:147183; AllianceGenome:HGNC:5724
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
SUH; csl; AOS3; CBF1; KBF2; CBF-1; RBP-J; RBPJK; IGKJRB; RBP-JK; RBPSUH; IGKJRB1; RBP-J kappa
Summary
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]
Expression
Ubiquitous expression in placenta (RPKM 17.3), endometrium (RPKM 16.0) and 25 other tissues See more
Orthologs
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Genomic context

See RBPJ in Genome Data Viewer
Location:
4p15.2
Exon count:
20
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (26105449..26435131)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (26087631..26420111)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (26165080..26436753)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124900689 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:26031006-26031587 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:26031588-26032170 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15331 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15332 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15333 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21384 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21385 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21386 Neighboring gene long intergenic non-protein coding RNA 2357 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21387 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21388 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:26140937-26141706 Neighboring gene zinc finger protein 248 pseudogene Neighboring gene uncharacterized LOC105374541 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21389 Neighboring gene uncharacterized LOC105374545 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21390 Neighboring gene uncharacterized LOC124900690 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21391 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:26206221-26206722 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21392 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:26239970-26240520 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:26240521-26241069 Neighboring gene uncharacterized LOC105374542 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15334 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21393 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:26301633-26302396 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21394 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21395 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15335 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21396 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15336 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15337 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr4:26323092-26324013 Neighboring gene Sharpr-MPRA regulatory region 12863 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:26354249-26354748 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:26353747-26354248 Neighboring gene Sharpr-MPRA regulatory region 2944 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21397 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr4:26407341-26408540 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:26454493-26455031 Neighboring gene cholecystokinin A receptor Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr4:26569763-26570962 Neighboring gene Sharpr-MPRA regulatory region 5841 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21398 Neighboring gene TBC1 domain family member 19 Neighboring gene Sharpr-MPRA regulatory region 1278 Neighboring gene small nucleolar RNA SNORD74

Genomic regions, transcripts, and products

Expression

  • Project title: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Adams-Oliver syndrome 3
MedGen: C3553748 OMIM: 614814 GeneReviews: Not available
Compare labs

EBI GWAS Catalog

Description
Genome-wide association study meta-analysis identifies seven new rheumatoid arthritis risk loci.
EBI GWAS Catalog
Novel rheumatoid arthritis susceptibility locus at 22q12 identified in an extended UK genome-wide association study.
EBI GWAS Catalog

Pathways from PubChem

Interactions

General gene information

Clone Names

  • MGC61669

Gene Ontology Provided by GOA

Items 1 - 25 of 61
Process Evidence Code Pubs
involved_in B cell differentiation  
involved_in Notch signaling pathway  
involved_in Notch signaling pathway PubMed 
involved_in angiogenesis  
involved_in aortic valve development  
involved_in arterial endothelial cell fate commitment  
involved_in atrioventricular canal development  
involved_in auditory receptor cell fate commitment  
involved_in blood vessel endothelial cell fate specification  
involved_in blood vessel lumenization  
involved_in blood vessel remodeling  
involved_in cardiac left ventricle morphogenesis  
involved_in cardiac muscle cell myoblast differentiation  
involved_in club cell differentiation  
involved_in defense response to bacterium  
involved_in dorsal aorta morphogenesis  
involved_in endocardium morphogenesis  
involved_in epidermal cell fate specification  
involved_in epithelial cell proliferation  
involved_in epithelial to mesenchymal transition  
involved_in epithelial to mesenchymal transition involved in endocardial cushion formation  
involved_in hair follicle maturation  
involved_in heart development PubMed 
involved_in humoral immune response  
involved_in inflammatory response to antigenic stimulus  
involved_in keratinocyte differentiation  
involved_in labyrinthine layer blood vessel development  
involved_in myeloid dendritic cell differentiation  
involved_in negative regulation of DNA-templated transcription PubMed 
involved_in negative regulation of cell differentiation  
involved_in negative regulation of cold-induced thermogenesis PubMed 
involved_in negative regulation of ossification  
involved_in negative regulation of stem cell proliferation  
involved_in negative regulation of transcription by RNA polymerase II PubMed 
involved_in negative regulation of transcription by RNA polymerase II  
involved_in outflow tract morphogenesis  
involved_in pituitary gland development  
involved_in positive regulation of BMP signaling pathway  
involved_in positive regulation of ERBB signaling pathway  
involved_in positive regulation of canonical Wnt signaling pathway  
involved_in positive regulation of cardiac muscle cell proliferation  
involved_in positive regulation of cell proliferation involved in heart morphogenesis  
involved_in positive regulation of ephrin receptor signaling pathway  
involved_in positive regulation of epithelial cell proliferation  
involved_in positive regulation of gene expression  
involved_in positive regulation of transcription by RNA polymerase II PubMed 
involved_in positive regulation of transcription by RNA polymerase II PubMed 
involved_in positive regulation of transcription by RNA polymerase II  
involved_in positive regulation of transcription of Notch receptor target PubMed 
involved_in pulmonary valve development  
involved_in regulation of cell adhesion involved in heart morphogenesis  
involved_in regulation of generation of precursor metabolites and energy PubMed 
involved_in regulation of timing of cell differentiation  
involved_in regulation of transcription by RNA polymerase II  
involved_in sebaceous gland development  
involved_in secondary heart field specification  
involved_in somatic stem cell population maintenance  
involved_in somitogenesis  
involved_in stem cell proliferation  
involved_in ventricular septum morphogenesis  
involved_in ventricular trabecula myocardium morphogenesis  
Items 1 - 25 of 61
Component Evidence Code Pubs
part_of MAML1-RBP-Jkappa- ICN1 complex  
part_of MAML1-RBP-Jkappa- ICN1 complex PubMed 
located_in chromatin  
located_in cytoplasm PubMed 
located_in nucleolus PubMed 
located_in nucleoplasm  
located_in nucleoplasm  
located_in nucleus PubMed 
part_of transcription repressor complex PubMed 

General protein information

Preferred Names
recombining binding protein suppressor of hairless
Names
H-2K binding factor-2
immunoglobulin kappa J region recombination signal binding protein 1
renal carcinoma antigen NY-REN-30
suppressor of hairless homolog

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_030343.2 RefSeqGene

    Range
    220567..334476
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001363577.2NP_001350506.1  recombining binding protein suppressor of hairless isoform 3

    Status: REVIEWED

    Source sequence(s)
    AC093637, AC097109
    Consensus CDS
    CCDS87214.1
    UniProtKB/TrEMBL
    A0A7P0T947
    Related
    ENSP00000505636.1, ENST00000681484.1
    Conserved Domains (3) summary
    cd01176
    Location:315411
    IPT_RBP-Jkappa; IPT domain of the recombination signal Jkappa binding protein (RBP-Jkappa). RBP-J kappa, was initially considered to be involved in V(D)J recombination because of its DNA binding specificity and structural similarity to site-specific recombinases known ...
    pfam09270
    Location:171293
    BTD; Beta-trefoil DNA-binding domain
    pfam09271
    Location:13138
    LAG1-DNAbind; LAG1, DNA binding
  2. NM_001374400.1NP_001361329.1  recombining binding protein suppressor of hairless isoform 1

    Status: REVIEWED

    Source sequence(s)
    AC093637, AC097109
    Consensus CDS
    CCDS3437.1
    UniProtKB/Swiss-Prot
    B4DY22, Q06330, Q5XKH9, Q6P1N3
    UniProtKB/TrEMBL
    A0A7P0T947
    Related
    ENSP00000423644.2, ENST00000512671.6
    Conserved Domains (3) summary
    cd01176
    Location:350446
    IPT_RBP-Jkappa; IPT domain of the recombination signal Jkappa binding protein (RBP-Jkappa). RBP-J kappa, was initially considered to be involved in V(D)J recombination because of its DNA binding specificity and structural similarity to site-specific recombinases known ...
    pfam09270
    Location:206328
    BTD; Beta-trefoil DNA-binding domain
    pfam09271
    Location:48173
    LAG1-DNAbind; LAG1, DNA binding
  3. NM_001374401.1NP_001361330.1  recombining binding protein suppressor of hairless isoform 4

    Status: REVIEWED

    Source sequence(s)
    AC093637, AC097109, AC097714
    Consensus CDS
    CCDS33969.1
    UniProtKB/TrEMBL
    A0A7P0T947
    Conserved Domains (3) summary
    cd01176
    Location:336432
    IPT_RBP-Jkappa; IPT domain of the recombination signal Jkappa binding protein (RBP-Jkappa). RBP-J kappa, was initially considered to be involved in V(D)J recombination because of its DNA binding specificity and structural similarity to site-specific recombinases known ...
    pfam09270
    Location:192314
    BTD; Beta-trefoil DNA-binding domain
    pfam09271
    Location:34159
    LAG1-DNAbind; LAG1, DNA binding
  4. NM_001374402.1NP_001361331.1  recombining binding protein suppressor of hairless isoform 4

    Status: REVIEWED

    Source sequence(s)
    AC093637, AC097109
    Consensus CDS
    CCDS33969.1
    UniProtKB/TrEMBL
    A0A7P0T947
    Conserved Domains (3) summary
    cd01176
    Location:336432
    IPT_RBP-Jkappa; IPT domain of the recombination signal Jkappa binding protein (RBP-Jkappa). RBP-J kappa, was initially considered to be involved in V(D)J recombination because of its DNA binding specificity and structural similarity to site-specific recombinases known ...
    pfam09270
    Location:192314
    BTD; Beta-trefoil DNA-binding domain
    pfam09271
    Location:34159
    LAG1-DNAbind; LAG1, DNA binding
  5. NM_001374403.1NP_001361332.1  recombining binding protein suppressor of hairless isoform 4

    Status: REVIEWED

    Source sequence(s)
    AC093637, AC097109
    Consensus CDS
    CCDS33969.1
    UniProtKB/TrEMBL
    A0A7P0T947
    Related
    ENSP00000505493.1, ENST00000680928.1
    Conserved Domains (3) summary
    cd01176
    Location:336432
    IPT_RBP-Jkappa; IPT domain of the recombination signal Jkappa binding protein (RBP-Jkappa). RBP-J kappa, was initially considered to be involved in V(D)J recombination because of its DNA binding specificity and structural similarity to site-specific recombinases known ...
    pfam09270
    Location:192314
    BTD; Beta-trefoil DNA-binding domain
    pfam09271
    Location:34159
    LAG1-DNAbind; LAG1, DNA binding
  6. NM_001379406.1NP_001366335.1  recombining binding protein suppressor of hairless isoform 4

    Status: REVIEWED

    Source sequence(s)
    AC093637, AC097109
    Consensus CDS
    CCDS33969.1
    UniProtKB/TrEMBL
    A0A7P0T947
    Conserved Domains (3) summary
    cd01176
    Location:336432
    IPT_RBP-Jkappa; IPT domain of the recombination signal Jkappa binding protein (RBP-Jkappa). RBP-J kappa, was initially considered to be involved in V(D)J recombination because of its DNA binding specificity and structural similarity to site-specific recombinases known ...
    pfam09270
    Location:192314
    BTD; Beta-trefoil DNA-binding domain
    pfam09271
    Location:34159
    LAG1-DNAbind; LAG1, DNA binding
  7. NM_001379407.1NP_001366336.1  recombining binding protein suppressor of hairless isoform 4

    Status: REVIEWED

    Source sequence(s)
    AC093637, AC097109
    Consensus CDS
    CCDS33969.1
    UniProtKB/TrEMBL
    A0A7P0T947
    Conserved Domains (3) summary
    cd01176
    Location:336432
    IPT_RBP-Jkappa; IPT domain of the recombination signal Jkappa binding protein (RBP-Jkappa). RBP-J kappa, was initially considered to be involved in V(D)J recombination because of its DNA binding specificity and structural similarity to site-specific recombinases known ...
    pfam09270
    Location:192314
    BTD; Beta-trefoil DNA-binding domain
    pfam09271
    Location:34159
    LAG1-DNAbind; LAG1, DNA binding
  8. NM_001379408.1NP_001366337.1  recombining binding protein suppressor of hairless isoform 7

    Status: REVIEWED

    Source sequence(s)
    AC093637, AC097109
    UniProtKB/TrEMBL
    D6RF98
  9. NM_001379409.1NP_001366338.1  recombining binding protein suppressor of hairless isoform 6

    Status: REVIEWED

    Source sequence(s)
    AC093637, AC097109
    UniProtKB/TrEMBL
    D6RF98
    Conserved Domains (3) summary
    cd01176
    Location:294379
    IPT_RBP-Jkappa; IPT domain of the recombination signal Jkappa binding protein (RBP-Jkappa). RBP-J kappa, was initially considered to be involved in V(D)J recombination because of its DNA binding specificity and structural similarity to site-specific recombinases known ...
    pfam09270
    Location:191294
    BTD; Beta-trefoil DNA-binding domain
    pfam09271
    Location:33158
    LAG1-DNAbind; LAG1, DNA binding
  10. NM_005349.4NP_005340.2  recombining binding protein suppressor of hairless isoform 1

    See identical proteins and their annotated locations for NP_005340.2

    Status: REVIEWED

    Source sequence(s)
    AC093637, AC097109
    Consensus CDS
    CCDS3437.1
    UniProtKB/Swiss-Prot
    B4DY22, Q06330, Q5XKH9, Q6P1N3
    UniProtKB/TrEMBL
    A0A7P0T947
    Related
    ENSP00000345206.1, ENST00000342295.6
    Conserved Domains (3) summary
    cd01176
    Location:350446
    IPT_RBP-Jkappa; IPT domain of the recombination signal Jkappa binding protein (RBP-Jkappa). RBP-J kappa, was initially considered to be involved in V(D)J recombination because of its DNA binding specificity and structural similarity to site-specific recombinases known ...
    pfam09270
    Location:206328
    BTD; Beta-trefoil DNA-binding domain
    pfam09271
    Location:48173
    LAG1-DNAbind; LAG1, DNA binding
  11. NM_015874.6NP_056958.3  recombining binding protein suppressor of hairless isoform 2

    See identical proteins and their annotated locations for NP_056958.3

    Status: REVIEWED

    Source sequence(s)
    AC093637, AC097109
    Consensus CDS
    CCDS43219.1
    UniProtKB/TrEMBL
    A0A7P0T947
    Related
    ENSP00000347659.4, ENST00000355476.8
    Conserved Domains (3) summary
    cd01176
    Location:337433
    IPT_RBP-Jkappa; IPT domain of the recombination signal Jkappa binding protein (RBP-Jkappa). RBP-J kappa, was initially considered to be involved in V(D)J recombination because of its DNA binding specificity and structural similarity to site-specific recombinases known ...
    pfam09270
    Location:193315
    BTD; Beta-trefoil DNA-binding domain
    pfam09271
    Location:35160
    LAG1-DNAbind; LAG1, DNA binding
  12. NM_203283.5NP_976028.2  recombining binding protein suppressor of hairless isoform 3

    Status: REVIEWED

    Source sequence(s)
    AC093637, AC097109
    Consensus CDS
    CCDS87214.1
    UniProtKB/TrEMBL
    A0A7P0T947
    Related
    ENSP00000305815.6, ENST00000345843.8
    Conserved Domains (3) summary
    cd01176
    Location:315411
    IPT_RBP-Jkappa; IPT domain of the recombination signal Jkappa binding protein (RBP-Jkappa). RBP-J kappa, was initially considered to be involved in V(D)J recombination because of its DNA binding specificity and structural similarity to site-specific recombinases known ...
    pfam09270
    Location:171293
    BTD; Beta-trefoil DNA-binding domain
    pfam09271
    Location:13138
    LAG1-DNAbind; LAG1, DNA binding
  13. NM_203284.3NP_976029.1  recombining binding protein suppressor of hairless isoform 4

    See identical proteins and their annotated locations for NP_976029.1

    Status: REVIEWED

    Source sequence(s)
    AC093637, AC097109
    Consensus CDS
    CCDS33969.1
    UniProtKB/TrEMBL
    A0A7P0T947
    Related
    ENSP00000339699.5, ENST00000348160.9
    Conserved Domains (3) summary
    cd01176
    Location:336432
    IPT_RBP-Jkappa; IPT domain of the recombination signal Jkappa binding protein (RBP-Jkappa). RBP-J kappa, was initially considered to be involved in V(D)J recombination because of its DNA binding specificity and structural similarity to site-specific recombinases known ...
    pfam09270
    Location:192314
    BTD; Beta-trefoil DNA-binding domain
    pfam09271
    Location:34159
    LAG1-DNAbind; LAG1, DNA binding

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p14 Primary Assembly

    Range
    26105449..26435131
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047415656.1XP_047271612.1  recombining binding protein suppressor of hairless isoform X1

    UniProtKB/TrEMBL
    A0A7P0T947
  2. XM_011513840.4XP_011512142.1  recombining binding protein suppressor of hairless isoform X3

    See identical proteins and their annotated locations for XP_011512142.1

    UniProtKB/TrEMBL
    A0A7P0T947
    Related
    ENSP00000426872.2, ENST00000505958.6
    Conserved Domains (3) summary
    cd01176
    Location:336432
    IPT_RBP-Jkappa; IPT domain of the recombination signal Jkappa binding protein (RBP-Jkappa). RBP-J kappa, was initially considered to be involved in V(D)J recombination because of its DNA binding specificity and structural similarity to site-specific recombinases known ...
    pfam09270
    Location:192314
    BTD; Beta-trefoil DNA-binding domain
    pfam09271
    Location:34159
    LAG1-DNAbind; LAG1, DNA binding
  3. XM_047415657.1XP_047271613.1  recombining binding protein suppressor of hairless isoform X3

    UniProtKB/TrEMBL
    A0A7P0T947
  4. XM_017008171.3XP_016863660.1  recombining binding protein suppressor of hairless isoform X2

    UniProtKB/TrEMBL
    A0A7P0T947
  5. XM_047415658.1XP_047271614.1  recombining binding protein suppressor of hairless isoform X4

    UniProtKB/TrEMBL
    A0A7P0T947

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060928.1 Alternate T2T-CHM13v2.0

    Range
    26087631..26420111
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054349956.1XP_054205931.1  recombining binding protein suppressor of hairless isoform X1

    UniProtKB/TrEMBL
    A0A7P0T947
  2. XM_054349958.1XP_054205933.1  recombining binding protein suppressor of hairless isoform X3

    UniProtKB/TrEMBL
    A0A7P0T947
  3. XM_054349957.1XP_054205932.1  recombining binding protein suppressor of hairless isoform X3

    UniProtKB/TrEMBL
    A0A7P0T947
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