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MGP001597

UniProt Annotations

Entry Information
Gene Namerecombination signal binding protein for immunoglobulin kappa J region
Protein EntrySUH_HUMAN
UniProt IDQ06330
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=7; Name=APCR-2; IsoId=Q06330-1; Sequence=Displayed; Name=APCR-1; IsoId=Q06330-2; Sequence=VSP_002717; Name=APCR-3; IsoId=Q06330-3; Sequence=VSP_002718, VSP_002719; Name=4; IsoId=Q06330-4; Sequence=VSP_021573; Name=5; IsoId=Q06330-5; Sequence=VSP_021572; Name=6; IsoId=Q06330-6; Sequence=VSP_021574; Name=7; IsoId=Q06330-7; Sequence=VSP_042637;
CautionDespite some similarity with the "phage" integrase family, it has no recombinase activity. {ECO:0000305}.
DiseaseAdams-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.
FunctionTranscriptional 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. {ECO:0000269|PubMed:21991380}.
InteractionP54253:ATXN1; NbExp=7; IntAct=EBI-632552, EBI-930964; P0C7T5:ATXN1L; NbExp=7; IntAct=EBI-632552, EBI-8624731; P12978:EBNA2 (xeno); NbExp=2; IntAct=EBI-632552, EBI-8052923; P12977:EBNA3 (xeno); NbExp=3; IntAct=EBI-632552, EBI-993115; P03203:EBNA4 (xeno); NbExp=4; IntAct=EBI-632552, EBI-9346250; P03204:EBNA6 (xeno); NbExp=3; IntAct=EBI-632552, EBI-9255985; Q9Y618:NCOR2; NbExp=3; IntAct=EBI-632552, EBI-80830; P46531:NOTCH1; NbExp=3; IntAct=EBI-632552, EBI-636374; Q01705:Notch1 (xeno); NbExp=3; IntAct=EBI-632552, EBI-1392707; Q96K30:RITA1; NbExp=8; IntAct=EBI-632552, EBI-2836148; P0CJ62:rita1 (xeno); NbExp=2; IntAct=EBI-632552, EBI-8517225; Q13573:SNW1; NbExp=2; IntAct=EBI-632552, EBI-632715;
Sequence CautionSequence=AAA16254.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};
SimilarityBelongs to the Su(H) family. {ECO:0000305}.
SimilarityContains 1 IPT/TIG domain. {ECO:0000305}.
Subcellular LocationNucleus. Cytoplasm. Note=Mainly nuclear, upon interaction with RITA/C12orf52, translocates to the cytoplasm, down-regulating the Notch signaling pathway.
SubunitInteracts 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. {ECO:0000269|PubMed:10637481, ECO:0000269|PubMed:10644367, ECO:0000269|PubMed:12374742, ECO:0000269|PubMed:16530044, ECO:0000269|PubMed:21102556, ECO:0000269|PubMed:8016657, ECO:0000269|PubMed:8627785, ECO:0000269|PubMed:9874765}.
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