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

Gene ID: 3516, updated on 14-Jun-2018
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; Vega:OTTHUMG00000097793
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; RBP-J; RBPJK; IGKJRB; RBPSUH; IGKJRB1
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
See RBPJ in Genome Data Viewer
Location:
4p15.2
Exon count:
17
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 4 NC_000004.12 (26163489..26435131)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (26165077..26436753)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 2357 Neighboring gene zinc finger protein 248 pseudogene Neighboring gene uncharacterized LOC105374541 Neighboring gene uncharacterized LOC105374545 Neighboring gene uncharacterized LOC105374542 Neighboring gene cholecystokinin A receptor Neighboring gene TBC1 domain family member 19

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Jun 15 11:32:44 2016

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Adams-Oliver syndrome 3
MedGen: C3553748 OMIM: 614814 GeneReviews: Adams-Oliver Syndrome
Compare labs

NHGRI GWAS Catalog

Description
Genome-wide association study meta-analysis identifies seven new rheumatoid arthritis risk loci.
NHGRI GWA Catalog
Novel rheumatoid arthritis susceptibility locus at 22q12 identified in an extended UK genome-wide association study.
NHGRI GWA Catalog
  • Canonical and Non-canonical Notch signaling, organism-specific biosystem (from WikiPathways)
    Canonical and Non-canonical Notch signaling, organism-specific biosystemThis pathway is based on figure 1 of "Alteration of Notch signaling in skeletal development and disease" (see bibliography). In the NOTCH signaling pathway, mammals have 11 ligands (JAG, DLL, DLK, et...
  • Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants, organism-specific biosystem (from REACTOME)
    Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants, organism-specific biosystemWhen found in cis, HD and PEST domain mutations act synergistically, increasing NOTCH1 transcriptional activity up to ~40-fold, compared with up to ~10-fold and up to ~2-fold increase with HD mutatio...
  • Constitutive Signaling by NOTCH1 PEST Domain Mutants, organism-specific biosystem (from REACTOME)
    Constitutive Signaling by NOTCH1 PEST Domain Mutants, organism-specific biosystemAs NOTCH1 PEST domain is intracellular, NOTCH1 PEST domain mutants are expected to behave as the wild-type NOTCH1 with respect to ligand binding and proteolytic cleavage mediated activation of signal...
  • Developmental Biology, organism-specific biosystem (from REACTOME)
    Developmental Biology, organism-specific biosystemAs a first step towards capturing the array of processes by which a fertilized egg gives rise to the diverse tissues of the body, examples of three kinds of processes have been annotated. These are a...
  • Disease, organism-specific biosystem (from REACTOME)
    Disease, organism-specific biosystemBiological processes are captured in Reactome by identifying the molecules (DNA, RNA, protein, small molecules) involved in them and describing the details of their interactions. From this molecular ...
  • Diseases of signal transduction, organism-specific biosystem (from REACTOME)
    Diseases of signal transduction, organism-specific biosystemSignaling processes are central to human physiology (e.g., Pires-da Silva & Sommer 2003), and their disruption by either germ-line and somatic mutation can lead to serious disease. Here, the molecula...
  • Epstein-Barr virus infection, organism-specific biosystem (from KEGG)
    Epstein-Barr virus infection, organism-specific biosystemEpstein-Barr virus (EBV) is a ubiquitous human herpesvirus that is associated with oncogenesis. EBV infection to primary human B lymphocytes leads to induction of EBV-specific HLA-restricted cytotoxi...
  • Epstein-Barr virus infection, conserved biosystem (from KEGG)
    Epstein-Barr virus infection, conserved biosystemEpstein-Barr virus (EBV) is a ubiquitous human herpesvirus that is associated with oncogenesis. EBV infection to primary human B lymphocytes leads to induction of EBV-specific HLA-restricted cytotoxi...
  • Gene Expression, organism-specific biosystem (from REACTOME)
    Gene Expression, organism-specific biosystemGene Expression covers the pathways by which genomic DNA is transcribed to yield RNA, the regulation of these transcription processes, and the pathways by which newly-made RNA Transcripts are process...
  • Generic Transcription Pathway, organism-specific biosystem (from REACTOME)
    Generic Transcription Pathway, organism-specific biosystemOVERVIEW OF TRANSCRIPTION REGULATION: Detailed studies of gene transcription regulation in a wide variety of eukaryotic systems has revealed the general principles and mechanisms by which cell- or t...
  • NOTCH1 Intracellular Domain Regulates Transcription, organism-specific biosystem (from REACTOME)
    NOTCH1 Intracellular Domain Regulates Transcription, organism-specific biosystemNICD1 produced by activation of NOTCH1 in response to Delta and Jagged ligands (DLL/JAG) presented in trans, traffics to the nucleus where it acts as a transcription regulator. In the nucleus, NICD1 ...
  • NOTCH2 intracellular domain regulates transcription, organism-specific biosystem (from REACTOME)
    NOTCH2 intracellular domain regulates transcription, organism-specific biosystemIn the nucleus, NICD2 forms a complex with RBPJ (CBF1, CSL) and MAML (mastermind). NICD2:RBPJ:MAML complex activates transcription from RBPJ-binding promoter elements (RBEs) (Wu et al. 2000). Besides...
  • Neural Crest Differentiation, organism-specific biosystem (from WikiPathways)
    Neural Crest Differentiation, organism-specific biosystemGene regulatory network model of cranial neural crest cell (CNCC) development, adaped from PMID: 19575671. Most interactions in the model are proposed to regulate transcription of core factors involv...
  • Notch Signaling Pathway, organism-specific biosystem (from WikiPathways)
    Notch Signaling Pathway, organism-specific biosystemThe Notch signaling pathway is an evolutionarily conserved, intercellular signaling mechanism essential for proper embryonic development in all metazoan organisms in the Animal kingdom. The Notch pro...
  • Notch Signaling Pathway, organism-specific biosystem (from WikiPathways)
    Notch Signaling Pathway, organism-specific biosystemThe Notch pathway is an evolutionally conserved signaling pathway which plays an important role in diverse developmental and physiological processes. These include cell-fate determination, tissue pat...
  • Notch signaling, organism-specific biosystem (from KEGG)
    Notch signaling, organism-specific biosystemFunctional set; Cellular processes; Cell signaling
  • Notch signaling, conserved biosystem (from KEGG)
    Notch signaling, conserved biosystemFunctional set; Cellular processes; Cell signaling
  • Notch signaling pathway, organism-specific biosystem (from KEGG)
    Notch signaling pathway, organism-specific biosystemThe Notch signaling pathway is an evolutionarily conserved, intercellular signaling mechanism essential for proper embryonic development in all metazoan organisms in the Animal kingdom. The Notch pro...
  • Notch signaling pathway, organism-specific biosystem (from Pathway Interaction Database)
    Notch signaling pathway, organism-specific biosystem
    Notch signaling pathway
  • Notch signaling pathway, conserved biosystem (from KEGG)
    Notch signaling pathway, conserved biosystemThe Notch signaling pathway is an evolutionarily conserved, intercellular signaling mechanism essential for proper embryonic development in all metazoan organisms in the Animal kingdom. The Notch pro...
  • Notch-HLH transcription pathway, organism-specific biosystem (from REACTOME)
    Notch-HLH transcription pathway, organism-specific biosystemTHE NOTCH-HLH TRANSCRIPTION PATHWAY: Notch signaling was first identified in Drosophila, where it has been studied in detail at the genetic, molecular, biochemical and cellular levels (reviewed in ...
  • Notch-mediated HES/HEY network, organism-specific biosystem (from Pathway Interaction Database)
    Notch-mediated HES/HEY network, organism-specific biosystem
    Notch-mediated HES/HEY network
  • Pre-NOTCH Expression and Processing, organism-specific biosystem (from REACTOME)
    Pre-NOTCH Expression and Processing, organism-specific biosystemIn humans and other mammals the NOTCH gene family has four members, NOTCH1, NOTCH2, NOTCH3 and NOTCH4, encoded on four different chromosomes. Their transcription is developmentally regulated and tiss...
  • Pre-NOTCH Transcription and Translation, organism-specific biosystem (from REACTOME)
    Pre-NOTCH Transcription and Translation, organism-specific biosystemIn humans, the NOTCH protein family has four members: NOTCH1, NOTCH2, NOTCH3 and NOTCH4. NOTCH1 protein was identified first, as the product of a chromosome 9 gene translocated in T-cell acute lympho...
  • Presenilin action in Notch and Wnt signaling, organism-specific biosystem (from Pathway Interaction Database)
    Presenilin action in Notch and Wnt signaling, organism-specific biosystem
    Presenilin action in Notch and Wnt signaling
  • Regulation of beta-cell development, organism-specific biosystem (from REACTOME)
    Regulation of beta-cell development, organism-specific biosystemThe normal development of the pancreas during gestation has been intensively investigated over the past decade especially in the mouse (Servitja and Ferrer 2004; Chakrabarti and Mirmira 2003). Studie...
  • Regulation of gene expression in late stage (branching morphogenesis) pancreatic bud precursor cells, organism-specific biosystem (from REACTOME)
    Regulation of gene expression in late stage (branching morphogenesis) pancreatic bud precursor cells, organism-specific biosystemThe properties of transcriptional networks in late stage (branching morphogenesis) pancreatic bud precursor cells are inferred from the properties of well-studied networks in mouse models. In mice, c...
  • Signal Transduction, organism-specific biosystem (from REACTOME)
    Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
  • Signaling by NOTCH, organism-specific biosystem (from REACTOME)
    Signaling by NOTCH, organism-specific biosystemThe Notch Signaling Pathway (NSP) is a highly conserved pathway for cell-cell communication. NSP is involved in the regulation of cellular differentiation, proliferation, and specification. For exam...
  • Signaling by NOTCH1, organism-specific biosystem (from REACTOME)
    Signaling by NOTCH1, organism-specific biosystemNOTCH1 functions as both a transmembrane receptor presented on the cell surface and as a transcriptional regulator in the nucleus.NOTCH1 receptor presented on the plasma membrane is activated by a me...
  • Signaling by NOTCH1 HD+PEST Domain Mutants in Cancer, organism-specific biosystem (from REACTOME)
    Signaling by NOTCH1 HD+PEST Domain Mutants in Cancer, organism-specific biosystemMutations in the heterodimerization domain (HD) and PEST domain of NOTCH1 are frequently found in cis in T-cell acute lymphoblastic leukemia. While HD mutations alone result in up to ~10-fold increas...
  • Signaling by NOTCH1 PEST Domain Mutants in Cancer, organism-specific biosystem (from REACTOME)
    Signaling by NOTCH1 PEST Domain Mutants in Cancer, organism-specific biosystemNOTCH1 PEST domain mutations are frequently found in T-cell acute lymphoblastic leukemia (T-ALL). PEST domain mutations interfere with ubiquitination-mediated NOTCH1 downregulation and result in prol...
  • Signaling by NOTCH1 in Cancer, organism-specific biosystem (from REACTOME)
    Signaling by NOTCH1 in Cancer, organism-specific biosystemHuman NOTCH1 was cloned as a chromosome 9 gene, translocated to the T-cell beta receptor (TCBR) promoter on chromosome 7 in T-cell acute lymphoblastic leukemia (T-ALL) (Ellisen et al. 1991). This tra...
  • Signaling by NOTCH2, organism-specific biosystem (from REACTOME)
    Signaling by NOTCH2, organism-specific biosystemNOTCH2 is activated by binding Delta-like and Jagged ligands (DLL/JAG) expressed in trans on neighboring cells (Shimizu et al. 1999, Shimizu et al. 2000, Hicks et al. 2000, Ji et al. 2004). In trans ...
  • Th1 and Th2 cell differentiation, organism-specific biosystem (from KEGG)
    Th1 and Th2 cell differentiation, organism-specific biosystemImmunity to different classes of microorganisms is orchestrated by separate lineages of effector T helper (TH)-cells, which differentiate from naive CD4+ precursor cells in response to cues provided ...
  • Th1 and Th2 cell differentiation, conserved biosystem (from KEGG)
    Th1 and Th2 cell differentiation, conserved biosystemImmunity to different classes of microorganisms is orchestrated by separate lineages of effector T helper (TH)-cells, which differentiate from naive CD4+ precursor cells in response to cues provided ...
  • Viral carcinogenesis, organism-specific biosystem (from KEGG)
    Viral carcinogenesis, organism-specific biosystemThere is a strong association between viruses and the development of human malignancies. We now know that at least six human viruses, Epstein-Barr virus (EBV), hepatitis B virus (HBV), hepatitis C vi...
  • Viral carcinogenesis, conserved biosystem (from KEGG)
    Viral carcinogenesis, conserved biosystemThere is a strong association between viruses and the development of human malignancies. We now know that at least six human viruses, Epstein-Barr virus (EBV), hepatitis B virus (HBV), hepatitis C vi...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • MGC61669

Gene Ontology Provided by GOA

Function Evidence Code Pubs
DNA binding TAS
Traceable Author Statement
more info
PubMed 
DNA-binding transcription factor activity TAS
Traceable Author Statement
more info
PubMed 
RNA polymerase II proximal promoter sequence-specific DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
RNA polymerase II repressing transcription factor binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
RNA polymerase II repressing transcription factor binding IPI
Inferred from Physical Interaction
more info
PubMed 
RNA polymerase II transcription factor activity, sequence-specific DNA binding ISA
Inferred from Sequence Alignment
more info
 
RNA polymerase II transcription factor activity, sequence-specific DNA binding ISM
Inferred from Sequence Model
more info
PubMed 
RNA polymerase II transcription factor activity, sequence-specific DNA binding NAS
Non-traceable Author Statement
more info
PubMed 
chromatin binding IEA
Inferred from Electronic Annotation
more info
 
protein N-terminus binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
recombinase activity NAS
Non-traceable Author Statement
more info
PubMed 
repressing transcription factor binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
repressing transcription factor binding IPI
Inferred from Physical Interaction
more info
PubMed 
sequence-specific DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
sequence-specific DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
transcription factor binding IDA
Inferred from Direct Assay
more info
PubMed 
transcription factor binding IPI
Inferred from Physical Interaction
more info
PubMed 
transcriptional activator activity, RNA polymerase II proximal promoter sequence-specific DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
transcriptional activator activity, RNA polymerase II proximal promoter sequence-specific DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
B cell differentiation IEA
Inferred from Electronic Annotation
more info
 
Clara cell differentiation IEA
Inferred from Electronic Annotation
more info
 
DNA recombination NAS
Non-traceable Author Statement
more info
PubMed 
Notch signaling involved in heart development IC
Inferred by Curator
more info
PubMed 
Notch signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Notch signaling pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
Notch signaling pathway TAS
Traceable Author Statement
more info
 
angiogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
aortic valve development IEA
Inferred from Electronic Annotation
more info
 
arterial endothelial cell fate commitment IEA
Inferred from Electronic Annotation
more info
 
atrioventricular canal development ISS
Inferred from Sequence or Structural Similarity
more info
 
auditory receptor cell fate commitment IEA
Inferred from Electronic Annotation
more info
 
blood vessel endothelial cell fate specification ISS
Inferred from Sequence or Structural Similarity
more info
 
blood vessel lumenization ISS
Inferred from Sequence or Structural Similarity
more info
 
blood vessel remodeling IEA
Inferred from Electronic Annotation
more info
 
cardiac left ventricle morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
defense response to bacterium IEA
Inferred from Electronic Annotation
more info
 
dorsal aorta morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
endocardium morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
epidermal cell fate specification IEA
Inferred from Electronic Annotation
more info
 
epithelial to mesenchymal transition ISS
Inferred from Sequence or Structural Similarity
more info
 
epithelial to mesenchymal transition involved in endocardial cushion formation ISS
Inferred from Sequence or Structural Similarity
more info
 
hair follicle maturation IEA
Inferred from Electronic Annotation
more info
 
humoral immune response IEA
Inferred from Electronic Annotation
more info
 
inflammatory response to antigenic stimulus IEA
Inferred from Electronic Annotation
more info
 
interleukin-4 secretion IEA
Inferred from Electronic Annotation
more info
 
keratinocyte differentiation IEA
Inferred from Electronic Annotation
more info
 
labyrinthine layer blood vessel development ISS
Inferred from Sequence or Structural Similarity
more info
 
myeloid dendritic cell differentiation IEA
Inferred from Electronic Annotation
more info
 
negative regulation of cell differentiation IEA
Inferred from Electronic Annotation
more info
 
negative regulation of cell proliferation IEA
Inferred from Electronic Annotation
more info
 
negative regulation of ossification ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
negative regulation of transcription by RNA polymerase II IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of transcription by RNA polymerase II ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of transcription, DNA-templated IDA
Inferred from Direct Assay
more info
PubMed 
outflow tract morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
pituitary gland development IEA
Inferred from Electronic Annotation
more info
 
positive regulation of BMP signaling pathway ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of ERBB signaling pathway ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of Notch signaling pathway TAS
Traceable Author Statement
more info
 
positive regulation of canonical Wnt signaling pathway involved in cardiac muscle cell fate commitment IEA
Inferred from Electronic Annotation
more info
 
positive regulation of cardiac muscle cell proliferation ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of cell proliferation involved in heart morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of ephrin receptor signaling pathway ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of gene expression ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of transcription by RNA polymerase II IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of transcription from RNA polymerase II promoter in response to hypoxia IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of transcription of Notch receptor target IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of transcription of Notch receptor target TAS
Traceable Author Statement
more info
 
pulmonary valve development IEA
Inferred from Electronic Annotation
more info
 
regulation of timing of cell differentiation IEA
Inferred from Electronic Annotation
more info
 
regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
sebaceous gland development IEA
Inferred from Electronic Annotation
more info
 
secondary heart field specification IEA
Inferred from Electronic Annotation
more info
 
somatic stem cell population maintenance IEA
Inferred from Electronic Annotation
more info
 
somitogenesis IEA
Inferred from Electronic Annotation
more info
 
transcription initiation from RNA polymerase II promoter TAS
Traceable Author Statement
more info
 
ventricular septum morphogenesis IEA
Inferred from Electronic Annotation
more info
 
ventricular trabecula myocardium morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
MAML1-RBP-Jkappa- ICN1 complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
MAML1-RBP-Jkappa- ICN1 complex IDA
Inferred from Direct Assay
more info
PubMed 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
nucleolus IDA
Inferred from Direct Assay
more info
PubMed 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
transcription factor complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
transcription factor complex IEA
Inferred from Electronic Annotation
more info
 
transcriptional repressor complex IDA
Inferred from Direct Assay
more info
PubMed 
Preferred Names
recombining binding protein suppressor of hairless
Names
CBF-1
H-2K binding factor-2
RBP-J kappa
RBP-JK
immunoglobulin kappa J region recombination signal binding protein 1
renal carcinoma antigen NY-REN-30
suppressor of hairless homolog

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_030343.1 RefSeqGene

    Range
    5001..120422
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001363577.1NP_001350506.1  recombining binding protein suppressor of hairless isoform 5

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (5) is shorter at the N-terminus compared to isoform 1.
    Source sequence(s)
    AC093637, AC097109
    Consensus CDS
    CCDS87214.1
  2. NM_005349.3NP_005340.2  recombining binding protein suppressor of hairless isoform 1

    See identical proteins and their annotated locations for NP_005340.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1).
    Source sequence(s)
    AC093637, AC097109, BC020780, BC064976, BM680668, L07872
    Consensus CDS
    CCDS3437.1
    UniProtKB/Swiss-Prot
    Q06330
    Related
    ENSP00000345206.1, ENST00000342295.5
    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:179328
    BTD; Beta-trefoil DNA-binding domain
    pfam09271
    Location:48177
    LAG1-DNAbind; LAG1, DNA binding
  3. NM_015874.4NP_056958.3  recombining binding protein suppressor of hairless isoform 2

    See identical proteins and their annotated locations for NP_056958.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (2) has a shorter and distinct N-terminus compared to isoform 1.
    Source sequence(s)
    AC093637, BC064976, BM680668, DC361185
    Consensus CDS
    CCDS43219.1
    UniProtKB/Swiss-Prot
    Q06330
    Related
    ENSP00000339699.4, OTTHUMP00000218678, ENST00000348160.8, OTTHUMT00000361631
    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:166315
    BTD; Beta-trefoil DNA-binding domain
    pfam09271
    Location:35164
    LAG1-DNAbind; LAG1, DNA binding
  4. NM_203283.2NP_976028.1  recombining binding protein suppressor of hairless isoform 3

    See identical proteins and their annotated locations for NP_976028.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks an alternate 5' exon compared to variant 1. The resulting isoform (3) has a shorter and distinct N-terminus compared to isoform 1.
    Source sequence(s)
    AC093637, BC020780, BC064976, BM680668
    Consensus CDS
    CCDS3436.1
    UniProtKB/Swiss-Prot
    Q06330
    Related
    ENSP00000305815.5, OTTHUMP00000123439, ENST00000345843.7, OTTHUMT00000215045
    Conserved Domains (3) summary
    cd01176
    Location:335431
    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:164313
    BTD; Beta-trefoil DNA-binding domain
    pfam09271
    Location:33162
    LAG1-DNAbind; LAG1, DNA binding
  5. NM_203284.2NP_976029.1  recombining binding protein suppressor of hairless isoform 4

    See identical proteins and their annotated locations for NP_976029.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (4) has a shorter and distinct N-terminus compared to isoform 1.
    Source sequence(s)
    AC093637, BC020780, BC064976, BM680668, DC389691
    Consensus CDS
    CCDS33969.1
    UniProtKB/Swiss-Prot
    Q06330
    Related
    ENSP00000347659.3, ENST00000355476.7
    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:165314
    BTD; Beta-trefoil DNA-binding domain
    pfam09271
    Location:34163
    LAG1-DNAbind; LAG1, DNA binding

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p12 Primary Assembly

    Range
    26163489..26435131
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005248161.4XP_005248218.1  recombining binding protein suppressor of hairless isoform X3

    See identical proteins and their annotated locations for XP_005248218.1

    UniProtKB/Swiss-Prot
    Q06330
    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:165314
    BTD; Beta-trefoil DNA-binding domain
    pfam09271
    Location:34163
    LAG1-DNAbind; LAG1, DNA binding
  2. XM_017008170.2XP_016863659.1  recombining binding protein suppressor of hairless isoform X1

    Conserved Domains (3) summary
    cd01176
    Location:356452
    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:185334
    BTD; Beta-trefoil DNA-binding domain
    pfam09271
    Location:54183
    LAG1-DNAbind; LAG1, DNA binding
  3. XM_024454032.1XP_024309800.1  recombining binding protein suppressor of hairless isoform X3

    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:165314
    BTD; Beta-trefoil DNA-binding domain
    pfam09271
    Location:34163
    LAG1-DNAbind; LAG1, DNA binding
  4. XM_017008175.2XP_016863664.1  recombining binding protein suppressor of hairless isoform X3

    UniProtKB/Swiss-Prot
    Q06330
    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:165314
    BTD; Beta-trefoil DNA-binding domain
    pfam09271
    Location:34163
    LAG1-DNAbind; LAG1, DNA binding
  5. XM_017008174.2XP_016863663.1  recombining binding protein suppressor of hairless isoform X3

    UniProtKB/Swiss-Prot
    Q06330
    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:165314
    BTD; Beta-trefoil DNA-binding domain
    pfam09271
    Location:34163
    LAG1-DNAbind; LAG1, DNA binding
  6. XM_024454033.1XP_024309801.1  recombining binding protein suppressor of hairless isoform X4

    Related
    ENSP00000423907.1, ENST00000507561.5
    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:144293
    BTD; Beta-trefoil DNA-binding domain
    pfam09271
    Location:13142
    LAG1-DNAbind; LAG1, DNA binding
  7. XM_011513840.3XP_011512142.1  recombining binding protein suppressor of hairless isoform X3

    See identical proteins and their annotated locations for XP_011512142.1

    UniProtKB/Swiss-Prot
    Q06330
    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:165314
    BTD; Beta-trefoil DNA-binding domain
    pfam09271
    Location:34163
    LAG1-DNAbind; LAG1, DNA binding
  8. XM_017008171.2XP_016863660.1  recombining binding protein suppressor of hairless isoform X2

    Related
    OTTHUMP00000217971
  9. XM_017008173.2XP_016863662.1  recombining binding protein suppressor of hairless isoform X3

    UniProtKB/Swiss-Prot
    Q06330
    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:165314
    BTD; Beta-trefoil DNA-binding domain
    pfam09271
    Location:34163
    LAG1-DNAbind; LAG1, DNA binding
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