Rbpj
Gene Detail

Symbol Name ID

Rbpj recombination signal binding protein for immunoglobulin kappa J region MGI:96522

Synonyms

CBF1, Igkjrb, Igkrsbp, RBPjk, RBP-J kappa, Rbpsuh

Feature Type

protein coding gene

Genetic Map

Chromosome 5

29.37 cM, cytoband C1-C3
Detailed Genetic Map ± 1 cM


Mapping data(3)

Sequence Map

Chr5:53590215-53657445 bp, + strand From NCBI annotation of GRCm38   67231 bp   ±  kb flank VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer

Mouse Genome Browser

Mammalian homology

human; rat; cattle; chimpanzee; dog, domestic    (Mammalian Orthology)
Comparative Map (Mouse/Human Rbpj ± 2 cM)

Gene Tree: Rbpj

Human ortholog

RBPJ recombination signal binding protein for immunoglobulin kappa J region NCBI Gene ID 3516
Human Synonyms: AOS3, CBF1, csl, IGKJRB, IGKJRB1, KBF2, RBP-J, RBPJK, RBPSUH, SUH
Human Chr4:26321332-26433278 bp, + strand Reference GRCh37.p2 Primary Assembly
Human Diseases Associated with Human RBPJ (1)

Alleles and phenotypes

All alleles(106) : Targeted(8) Gene trapped(98)
 

Homozygous null mutants show retarded growth, incomplete turning, microencephaly, placenta defects and die by midgestation. Heterozygotes have learning/memory defects. Conditional mutants lack marginal zone B cells, show hair loss and epidermal defects.

 

Gene Ontology (GO) classifications

All GO classifications: (94 annotations)

Process	angiogenesis, arterial endothelial cell fate commitment, ...
Component	cytoplasm, MAML1-RBP-Jkappa- ICN1 complex, ...
Function	chromatin binding, DNA binding, ...

This is a GO Consortium Reference Genome Project gene.
External Resources: FuncBase

Expression

Literature Summary: (47 records)
Data Summary: Results (130)    Tissues (58)    Images (19)
Theiler Stages: 1, 2, 3, 4, 5, 11, 13, 15, 17, 19, 20, 22, 23, 24, 26, 28

Assay Type	Results
Immunohistochemistry	9
RNA in situ	46
Western blot	11
RT-PCR	64

cDNA source data(24)
External Resources: Allen Institute   GEO   ArrayExpress

Molecular reagents

All nucleic(37) Genomic(2) cDNA(25) Primer pair(8) Other(2)
Microarray probesets(7)

Other database links

Ensembl Gene Model	ENSMUSG00000039191 (Evidence)
Entrez Gene	19664 (Evidence)
DFCI	TC1572679, TC1590271, TC1617382, TC1634503, TC1665542, TC1706059
DoTS	DT.101228429, DT.101738037, DT.110680907, DT.532648, DT.87042227, DT.91347531, DT.97408414
NIA Mouse Gene Index	U027256, U042636, U175839
PDB	3BRG, 3IAG
Consensus CDS Project	CCDS19292.1, CCDS51503.1, CCDS51504.1
International Mouse Knockout Project Status	Rbpj

Sequences

Length	Strain/Species
genomic	19664	NCBI Gene Model | MGI Sequence Detail	67231	C57BL/6J
transcript	NM_001277116	RefSeq | MGI Sequence Detail	5590	C57BL/6
polypeptide	P31266	UniProt | EBI | MGI Sequence Detail	526	Not Applicable

All sequences(81) RefSeq(8) UniProt(5)

Polymorphisms

PCR(1) : SNPs(295 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
InterPro	IPR015350	Beta-trefoil DNA-binding domain
InterPro	IPR002909	Cell surface receptor IPT/TIG
InterPro	IPR014756	Immunoglobulin E-set
InterPro	IPR013783	Immunoglobulin-like fold
InterPro	IPR015351	LAG1, DNA binding
InterPro	IPR008967	p53-like transcription factor, DNA-binding
Protein Ontology	PR:000013824	recombining binding protein suppressor of hairless

Graphical View of Protein Domain Structure

References

(Earliest) J:8644 Siminovitch KA, et al., The human kappa deleting element and the mouse recombining segment share DNA sequence homology. Nucleic Acids Res. 1987 Mar 25;15(6):2699-705
(Latest) J:193690 Hosaka Y, et al., Notch signaling in chondrocytes modulates endochondral ossification and osteoarthritis development. Proc Natl Acad Sci U S A. 2013 Jan 29;110(5):1875-80
All references(234)

Other accession IDs

MGD-MRK-11327, MGI:2140979