RBPJ
entrez
3516
canonical
uniprot
Q06330
canonical
ensembl
ENSG00000168214
resolver
ensp
ENSP00000305815
resolver
ensp
ENSP00000339699
resolver
ensp
ENSP00000345206
resolver
ensp
ENSP00000347659
resolver
ensp
ENSP00000423644
resolver
ensp
ENSP00000426872
resolver
ensp
ENSP00000505493
resolver
ensp
ENSP00000505636
resolver
ensp
ENSP00000562786
resolver
genesymbol
RBPJ
resolver
genesymbol_syn
IGKJRB
resolver
genesymbol_syn
IGKJRB1
resolver
genesymbol_syn
RBPJK
resolver
genesymbol_syn
RBPSUH
resolver
hgnc
HGNC:5724
resolver
uniprot
B4DY22
resolver
uniprot
Q5XKH9
resolver
uniprot
Q6P1N3
resolver
uniprot_entry
SUH_HUMAN
resolver
uniprot_sec
B4DY22
resolver
uniprot_sec
Q5XKH9
resolver
uniprot_sec
Q6P1N3
resolver
amino_acid_sequence
MDHTEGSPAEEPPAHAPSPGKFGERPPPKRLTREAMRNYLKERGDQTVLILHAKVAQKSYGNEKRFFCPPPCVYLMGSGWKKKKEQMERDGCSEQESQPCAFIGIGNSDQEMQQLNLEGKNYCTAKTLYISDSDKRKHFMLSVKMFYGNSDDIGVFLSKRIKVISKPSKKKQSLKNADLCIASGTKVALFNRLRSQTVSTRYLHVEGGNFHASSQQWGAFFIHLLDDDESEGEEFTVRDGYIHYGQTVKLVCSVTGMALPRLIIRKVDKQTALLDADDPVSQLHKCAFYLKDTERMYLCLSQERIIQFQATPCPKEPNKEMINDGASWTIISTDKAEYTFYEGMGPVLAPVTPVPVVESLQLNGGGDVAMLELTGQNFTPNLRVWFGDVEAETMYRCGESMLCVVPDISAFREGWRWVRQPVQVPVTLVRNDGIIYSTSLTFTYTPEPGPRPHCSAAGAILRANSSQVPPNESNTNSEGSYTNASTNSTSVTSSTATVVS
uniprot
proteins
disease_involvement
DISEASE: 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 variants affecting the gene represented in this entry.
uniprot
proteins
function
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 (PubMed:41086914, PubMed:36129980). 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 (PubMed:21991380). Binds to the oxygen responsive element of COX4I2 and activates its transcription under hypoxia conditions (4% oxygen) (PubMed:23303788). Negatively regulates the phagocyte oxidative burst in response to bacterial infection by repressing transcription of NADPH oxidase subunits (By similarity). {ECO:0000250|UniProtKB:P31266, ECO:0000269|PubMed:21991380, ECO:0000269|PubMed:23303788, ECO:0000269|PubMed:36129980, ECO:0000269|PubMed:41086914}.
uniprot
proteins
mass_dalton
55637
uniprot
proteins
post_translational_modification
PTM: Ubiquitinated by the SCF(FBXO42) complex at Lys-175; leading to proteasomal degradation. {ECO:0000269|PubMed:36129980}.
uniprot
proteins
protein_family
Su(H) family
uniprot
proteins
pubmed
10508479
uniprot
proteins
pubmed
10637481
uniprot
proteins
pubmed
10644367
uniprot
proteins
pubmed
12374742
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15815621
uniprot
proteins
pubmed
16530044
uniprot
proteins
pubmed
21102556
uniprot
proteins
pubmed
21991380
uniprot
proteins
pubmed
22883147
uniprot
proteins
pubmed
23303788
uniprot
proteins
pubmed
23571214
uniprot
proteins
pubmed
26522984
uniprot
proteins
pubmed
29030483
uniprot
proteins
pubmed
36129980
uniprot
proteins
pubmed
41086914
uniprot
proteins
pubmed
8016657
uniprot
proteins
pubmed
8406481
uniprot
proteins
pubmed
8627785
uniprot
proteins
pubmed
9874765
uniprot
proteins
sequence_length
500
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus. Cytoplasm. Note=Mainly nuclear, upon interaction with RITA/C12orf52, translocates to the cytoplasm, down-regulating the Notch signaling pathway.
uniprot
proteins