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Protein

Recombining binding protein suppressor of hairless

Gene

RBPJ

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

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. 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. Binds to the oxygen responsive element of COX4I2 and activates its transcription under hypoxia conditions (4% oxygen) (PubMed:23303788).2 Publications

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
DNA bindingi58 – 658
DNA bindingi192 – 20110
DNA bindingi265 – 297Add BLAST33

GO - Molecular functioni

  • chromatin binding Source: Ensembl
  • DNA binding Source: UniProtKB
  • recombinase activity Source: UniProtKB
  • RNA polymerase II core promoter proximal region sequence-specific DNA binding Source: InterPro
  • RNA polymerase II core promoter sequence-specific DNA binding Source: Ensembl
  • RNA polymerase II repressing transcription factor binding Source: BHF-UCL
  • sequence-specific DNA binding Source: UniProtKB
  • transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding Source: MGI
  • transcription factor activity, sequence-specific DNA binding Source: UniProtKB
  • transcription factor binding Source: UniProtKB

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Activator, Repressor

Keywords - Biological processi

Notch signaling pathway, Transcription, Transcription regulation

Keywords - Ligandi

DNA-binding

Enzyme and pathway databases

BioCyciZFISH:ENSG00000168214-MONOMER.
ReactomeiR-HSA-1912408. Pre-NOTCH Transcription and Translation.
R-HSA-210744. Regulation of gene expression in late stage (branching morphogenesis) pancreatic bud precursor cells.
R-HSA-2122947. NOTCH1 Intracellular Domain Regulates Transcription.
R-HSA-2197563. NOTCH2 intracellular domain regulates transcription.
R-HSA-2644606. Constitutive Signaling by NOTCH1 PEST Domain Mutants.
R-HSA-2894862. Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants.
R-HSA-350054. Notch-HLH transcription pathway.
SignaLinkiQ06330.
SIGNORiQ06330.

Names & Taxonomyi

Protein namesi
Recommended name:
Recombining binding protein suppressor of hairless
Alternative name(s):
CBF-1
J kappa-recombination signal-binding protein
RBP-J kappa
Short name:
RBP-J
Short name:
RBP-JK
Renal carcinoma antigen NY-REN-30
Gene namesi
Name:RBPJ
Synonyms:IGKJRB, IGKJRB1, RBPJK, RBPSUH
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 4

Organism-specific databases

HGNCiHGNC:5724. RBPJ.

Subcellular locationi

  • Nucleus
  • Cytoplasm

  • Note: Mainly nuclear, upon interaction with RITA/C12orf52, translocates to the cytoplasm, down-regulating the Notch signaling pathway.

GO - Cellular componenti

  • cytoplasm Source: UniProtKB
  • MAML1-RBP-Jkappa- ICN1 complex Source: UniProtKB
  • nucleolus Source: UniProtKB
  • nucleoplasm Source: Reactome
  • nucleus Source: UniProtKB
  • transcription factor complex Source: Ensembl
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Nucleus

Pathology & Biotechi

Involvement in diseasei

Adams-Oliver syndrome 3 (AOS3)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn 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.
See also OMIM:614814
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06892963E → G in AOS3; shows decreased binding to the HES1 promoter compared to wild-type. 1 PublicationCorresponds to variant rs387907270dbSNPEnsembl.1
Natural variantiVAR_068930169K → E in AOS3; shows decreased binding to the HES1 promoter compared to wild-type. 1 PublicationCorresponds to variant rs387907271dbSNPEnsembl.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi3516.
MalaCardsiRBPJ.
MIMi614814. phenotype.
OpenTargetsiENSG00000168214.
Orphaneti974. Adams-Oliver syndrome.
PharmGKBiPA34292.

Polymorphism and mutation databases

BioMutaiRBPJ.
DMDMi338817983.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002085671 – 500Recombining binding protein suppressor of hairlessAdd BLAST500

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei175N6-acetyllysineBy similarity1

Keywords - PTMi

Acetylation

Proteomic databases

EPDiQ06330.
MaxQBiQ06330.
PaxDbiQ06330.
PeptideAtlasiQ06330.
PRIDEiQ06330.
TopDownProteomicsiQ06330-3. [Q06330-3]

PTM databases

iPTMnetiQ06330.
PhosphoSitePlusiQ06330.

Expressioni

Gene expression databases

BgeeiENSG00000168214.
CleanExiHS_RBPJ.
ExpressionAtlasiQ06330. baseline and differential.
GenevisibleiQ06330. HS.

Organism-specific databases

HPAiHPA060647.

Interactioni

Subunit structurei

Interacts 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. Interacts with CHCHD2 and CXXC5 (PubMed:23303788). Interacts with BEND6 (via BEN domain). Interacts with NKAPL (By similarity).By similarity10 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
ATXN1P542537EBI-632552,EBI-930964
ATXN1LP0C7T57EBI-632552,EBI-8624731
EBNA2P129782EBI-632552,EBI-8052923From a different organism.
EBNA3P129774EBI-632552,EBI-993115From a different organism.
EBNA4P032034EBI-632552,EBI-9346250From a different organism.
EBNA6P032043EBI-632552,EBI-9255985From a different organism.
FBXO42Q6P3S63EBI-632552,EBI-2506081
NCOR2Q9Y6183EBI-632552,EBI-80830
NOTCH1P465315EBI-632552,EBI-636374
Notch1Q017053EBI-632552,EBI-1392707From a different organism.
RITA1Q96K3010EBI-632552,EBI-2836148
rita1P0CJ622EBI-632552,EBI-8517225From a different organism.
SNW1Q135732EBI-632552,EBI-632715
SPENQ96T582EBI-632552,EBI-765739

GO - Molecular functioni

  • RNA polymerase II repressing transcription factor binding Source: BHF-UCL
  • transcription factor binding Source: UniProtKB

Protein-protein interaction databases

BioGridi109736. 127 interactors.
DIPiDIP-33326N.
IntActiQ06330. 109 interactors.
MINTiMINT-1327001.
STRINGi9606.ENSP00000345206.

Structurei

Secondary structure

1500
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Helixi33 – 41Combined sources9
Beta strandi50 – 57Combined sources8
Beta strandi72 – 74Combined sources3
Helixi79 – 88Combined sources10
Turni89 – 91Combined sources3
Turni94 – 96Combined sources3
Beta strandi102 – 105Combined sources4
Beta strandi118 – 121Combined sources4
Beta strandi137 – 139Combined sources3
Beta strandi141 – 146Combined sources6
Beta strandi152 – 157Combined sources6
Beta strandi161 – 166Combined sources6
Beta strandi174 – 176Combined sources3
Beta strandi178 – 180Combined sources3
Beta strandi185 – 191Combined sources7
Helixi193 – 195Combined sources3
Turni197 – 199Combined sources3
Beta strandi204 – 206Combined sources3
Beta strandi209 – 211Combined sources3
Beta strandi220 – 225Combined sources6
Beta strandi231 – 234Combined sources4
Beta strandi246 – 255Combined sources10
Beta strandi262 – 268Combined sources7
Beta strandi271 – 275Combined sources5
Beta strandi284 – 289Combined sources6
Beta strandi291 – 295Combined sources5
Beta strandi297 – 299Combined sources3
Beta strandi302 – 306Combined sources5
Beta strandi319 – 321Combined sources3
Beta strandi328 – 336Combined sources9
Beta strandi343 – 345Combined sources3
Beta strandi356 – 362Combined sources7
Helixi366 – 368Combined sources3
Beta strandi370 – 377Combined sources8
Beta strandi382 – 386Combined sources5
Beta strandi389 – 391Combined sources3
Beta strandi393 – 397Combined sources5
Beta strandi400 – 404Combined sources5
Helixi408 – 411Combined sources4
Beta strandi412 – 414Combined sources3
Beta strandi426 – 430Combined sources5
Beta strandi431 – 433Combined sources3
Beta strandi435 – 437Combined sources3

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2F8XX-ray3.25C23-449[»]
3NBNX-ray3.45A/D23-448[»]
3V79X-ray3.85C23-449[»]
ProteinModelPortaliQ06330.
SMRiQ06330.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ06330.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini355 – 445IPT/TIGAdd BLAST91

Sequence similaritiesi

Belongs to the Su(H) family.Curated
Contains 1 IPT/TIG domain.Curated

Keywords - Domaini

Repeat

Phylogenomic databases

eggNOGiKOG3743. Eukaryota.
ENOG410XV7K. LUCA.
GeneTreeiENSGT00390000005197.
HOGENOMiHOG000253907.
HOVERGENiHBG006618.
InParanoidiQ06330.
KOiK06053.
OMAiVIVILHA.
OrthoDBiEOG091G057S.
PhylomeDBiQ06330.
TreeFamiTF314117.

Family and domain databases

Gene3Di2.60.40.10. 1 hit.
2.60.40.1450. 1 hit.
InterProiIPR015350. Beta-trefoil_DNA-bd_dom.
IPR013783. Ig-like_fold.
IPR014756. Ig_E-set.
IPR015351. LAG1_DNA-bd.
IPR008967. p53-like_TF_DNA-bd.
[Graphical view]
PfamiPF09270. BTD. 1 hit.
PF09271. LAG1-DNAbind. 1 hit.
[Graphical view]
SMARTiSM01268. BTD. 1 hit.
SM01267. LAG1_DNAbind. 1 hit.
[Graphical view]
SUPFAMiSSF110217. SSF110217. 1 hit.
SSF49417. SSF49417. 1 hit.
SSF81296. SSF81296. 1 hit.

Sequences (7)i

Sequence statusi: Complete.

This entry describes 7 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform APCR-2 (identifier: Q06330-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MDHTEGSPAE EPPAHAPSPG KFGERPPPKR LTREAMRNYL KERGDQTVLI
60 70 80 90 100
LHAKVAQKSY GNEKRFFCPP PCVYLMGSGW KKKKEQMERD GCSEQESQPC
110 120 130 140 150
AFIGIGNSDQ EMQQLNLEGK NYCTAKTLYI SDSDKRKHFM LSVKMFYGNS
160 170 180 190 200
DDIGVFLSKR IKVISKPSKK KQSLKNADLC IASGTKVALF NRLRSQTVST
210 220 230 240 250
RYLHVEGGNF HASSQQWGAF FIHLLDDDES EGEEFTVRDG YIHYGQTVKL
260 270 280 290 300
VCSVTGMALP RLIIRKVDKQ TALLDADDPV SQLHKCAFYL KDTERMYLCL
310 320 330 340 350
SQERIIQFQA TPCPKEPNKE MINDGASWTI ISTDKAEYTF YEGMGPVLAP
360 370 380 390 400
VTPVPVVESL QLNGGGDVAM LELTGQNFTP NLRVWFGDVE AETMYRCGES
410 420 430 440 450
MLCVVPDISA FREGWRWVRQ PVQVPVTLVR NDGIIYSTSL TFTYTPEPGP
460 470 480 490 500
RPHCSAAGAI LRANSSQVPP NESNTNSEGS YTNASTNSTS VTSSTATVVS
Length:500
Mass (Da):55,637
Last modified:June 28, 2011 - v3
Checksum:i91E50D2DE9087EDA
GO
Isoform APCR-1 (identifier: Q06330-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-75: Missing.

Show »
Length:425
Mass (Da):47,180
Checksum:i31CC3FCBED8E739E
GO
Isoform APCR-3 (identifier: Q06330-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-89: Missing.
     90-95: DGCSEQ → MAWIKR

Show »
Length:411
Mass (Da):45,642
Checksum:iF213446BAF8AA7BF
GO
Isoform 4 (identifier: Q06330-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-20: MDHTEGSPAEEPPAHAPSPG → MGGCR

Show »
Length:485
Mass (Da):54,146
Checksum:iF0907B0A36490025
GO
Isoform 5 (identifier: Q06330-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-35: Missing.

Show »
Length:465
Mass (Da):51,877
Checksum:i683E1FC7CC0FACC8
GO
Isoform 6 (identifier: Q06330-6) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-20: MDHTEGSPAEEPPAHAPSPG → MAWIKR

Show »
Length:486
Mass (Da):54,427
Checksum:i31FD3B3D01B13C4C
GO
Isoform 7 (identifier: Q06330-7) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-19: MDHTEGSPAEEPPAHAPSP → MAPVVT

Show »
Length:487
Mass (Da):54,297
Checksum:iBF5DE1E391B0E947
GO

Sequence cautioni

The sequence AAA16254 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti7S → L in AAA60258 (PubMed:8406481).Curated1
Sequence conflicti7S → L in AAA16253 (PubMed:8406481).Curated1
Sequence conflicti7S → L in AAA16254 (PubMed:8406481).Curated1
Sequence conflicti140 – 141ML → IF in AAA60258 (PubMed:8406481).Curated2
Sequence conflicti240G → V in AAA60258 (PubMed:8406481).Curated1
Sequence conflicti248V → C in AAA60258 (PubMed:8406481).Curated1
Sequence conflicti265R → M in AAA60258 (PubMed:8406481).Curated1
Sequence conflicti270Q → H in AAA60258 (PubMed:8406481).Curated1
Sequence conflicti462R → P in AAA60258 (PubMed:8406481).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06892963E → G in AOS3; shows decreased binding to the HES1 promoter compared to wild-type. 1 PublicationCorresponds to variant rs387907270dbSNPEnsembl.1
Natural variantiVAR_068930169K → E in AOS3; shows decreased binding to the HES1 promoter compared to wild-type. 1 PublicationCorresponds to variant rs387907271dbSNPEnsembl.1
Natural variantiVAR_028994291K → E.Corresponds to variant rs1064372dbSNPEnsembl.1
Natural variantiVAR_057243296M → K.Corresponds to variant rs5011135dbSNPEnsembl.1
Natural variantiVAR_028995334D → H.Corresponds to variant rs1064376dbSNPEnsembl.1
Natural variantiVAR_057244408I → V.Corresponds to variant rs1064381dbSNPEnsembl.1
Natural variantiVAR_028996419R → Q.Corresponds to variant rs1064384dbSNPEnsembl.1
Natural variantiVAR_028997425P → S.Corresponds to variant rs1064387dbSNPEnsembl.1
Natural variantiVAR_028998456A → V.1 PublicationCorresponds to variant rs1064402dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0027181 – 89Missing in isoform APCR-3. 1 PublicationAdd BLAST89
Alternative sequenceiVSP_0027171 – 75Missing in isoform APCR-1. 1 PublicationAdd BLAST75
Alternative sequenceiVSP_0215721 – 35Missing in isoform 5. 1 PublicationAdd BLAST35
Alternative sequenceiVSP_0215731 – 20MDHTE…APSPG → MGGCR in isoform 4. 1 PublicationAdd BLAST20
Alternative sequenceiVSP_0215741 – 20MDHTE…APSPG → MAWIKR in isoform 6. 1 PublicationAdd BLAST20
Alternative sequenceiVSP_0426371 – 19MDHTE…HAPSP → MAPVVT in isoform 7. 1 PublicationAdd BLAST19
Alternative sequenceiVSP_00271990 – 95DGCSEQ → MAWIKR in isoform APCR-3. 1 Publication6

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
L07872 mRNA. Translation: AAA60258.1.
L07874 mRNA. Translation: AAA16253.1.
L07875 mRNA. Translation: AAA16254.1. Different initiation.
L07876 mRNA. Translation: AAA16356.1.
AK302230 mRNA. Translation: BAG63584.1.
AC093637 Genomic DNA. No translation available.
AC097109 Genomic DNA. No translation available.
AC097714 Genomic DNA. No translation available.
AC111003 Genomic DNA. No translation available.
BC020780 mRNA. Translation: AAH20780.1.
BC053531 mRNA. No translation available.
BC064976 mRNA. Translation: AAH64976.1.
CCDSiCCDS33969.1. [Q06330-6]
CCDS3436.1. [Q06330-4]
CCDS3437.1. [Q06330-1]
CCDS43219.1. [Q06330-7]
PIRiA47214.
RefSeqiNP_005340.2. NM_005349.3. [Q06330-1]
NP_056958.3. NM_015874.4. [Q06330-7]
NP_976028.1. NM_203283.2. [Q06330-4]
NP_976029.1. NM_203284.2. [Q06330-6]
XP_005248218.1. XM_005248161.3. [Q06330-6]
XP_011512142.1. XM_011513840.2. [Q06330-6]
XP_016863661.1. XM_017008172.1. [Q06330-1]
XP_016863662.1. XM_017008173.1. [Q06330-6]
XP_016863663.1. XM_017008174.1. [Q06330-6]
XP_016863664.1. XM_017008175.1. [Q06330-6]
UniGeneiHs.479396.

Genome annotation databases

EnsembliENST00000342295; ENSP00000345206; ENSG00000168214. [Q06330-1]
ENST00000342320; ENSP00000340124; ENSG00000168214. [Q06330-6]
ENST00000345843; ENSP00000305815; ENSG00000168214. [Q06330-4]
ENST00000348160; ENSP00000339699; ENSG00000168214. [Q06330-7]
ENST00000355476; ENSP00000347659; ENSG00000168214. [Q06330-6]
ENST00000361572; ENSP00000354528; ENSG00000168214. [Q06330-1]
ENST00000507561; ENSP00000423907; ENSG00000168214. [Q06330-5]
GeneIDi3516.
KEGGihsa:3516.
UCSCiuc003grx.3. human. [Q06330-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
L07872 mRNA. Translation: AAA60258.1.
L07874 mRNA. Translation: AAA16253.1.
L07875 mRNA. Translation: AAA16254.1. Different initiation.
L07876 mRNA. Translation: AAA16356.1.
AK302230 mRNA. Translation: BAG63584.1.
AC093637 Genomic DNA. No translation available.
AC097109 Genomic DNA. No translation available.
AC097714 Genomic DNA. No translation available.
AC111003 Genomic DNA. No translation available.
BC020780 mRNA. Translation: AAH20780.1.
BC053531 mRNA. No translation available.
BC064976 mRNA. Translation: AAH64976.1.
CCDSiCCDS33969.1. [Q06330-6]
CCDS3436.1. [Q06330-4]
CCDS3437.1. [Q06330-1]
CCDS43219.1. [Q06330-7]
PIRiA47214.
RefSeqiNP_005340.2. NM_005349.3. [Q06330-1]
NP_056958.3. NM_015874.4. [Q06330-7]
NP_976028.1. NM_203283.2. [Q06330-4]
NP_976029.1. NM_203284.2. [Q06330-6]
XP_005248218.1. XM_005248161.3. [Q06330-6]
XP_011512142.1. XM_011513840.2. [Q06330-6]
XP_016863661.1. XM_017008172.1. [Q06330-1]
XP_016863662.1. XM_017008173.1. [Q06330-6]
XP_016863663.1. XM_017008174.1. [Q06330-6]
XP_016863664.1. XM_017008175.1. [Q06330-6]
UniGeneiHs.479396.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2F8XX-ray3.25C23-449[»]
3NBNX-ray3.45A/D23-448[»]
3V79X-ray3.85C23-449[»]
ProteinModelPortaliQ06330.
SMRiQ06330.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi109736. 127 interactors.
DIPiDIP-33326N.
IntActiQ06330. 109 interactors.
MINTiMINT-1327001.
STRINGi9606.ENSP00000345206.

PTM databases

iPTMnetiQ06330.
PhosphoSitePlusiQ06330.

Polymorphism and mutation databases

BioMutaiRBPJ.
DMDMi338817983.

Proteomic databases

EPDiQ06330.
MaxQBiQ06330.
PaxDbiQ06330.
PeptideAtlasiQ06330.
PRIDEiQ06330.
TopDownProteomicsiQ06330-3. [Q06330-3]

Protocols and materials databases

DNASUi3516.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000342295; ENSP00000345206; ENSG00000168214. [Q06330-1]
ENST00000342320; ENSP00000340124; ENSG00000168214. [Q06330-6]
ENST00000345843; ENSP00000305815; ENSG00000168214. [Q06330-4]
ENST00000348160; ENSP00000339699; ENSG00000168214. [Q06330-7]
ENST00000355476; ENSP00000347659; ENSG00000168214. [Q06330-6]
ENST00000361572; ENSP00000354528; ENSG00000168214. [Q06330-1]
ENST00000507561; ENSP00000423907; ENSG00000168214. [Q06330-5]
GeneIDi3516.
KEGGihsa:3516.
UCSCiuc003grx.3. human. [Q06330-1]

Organism-specific databases

CTDi3516.
DisGeNETi3516.
GeneCardsiRBPJ.
HGNCiHGNC:5724. RBPJ.
HPAiHPA060647.
MalaCardsiRBPJ.
MIMi147183. gene.
614814. phenotype.
neXtProtiNX_Q06330.
OpenTargetsiENSG00000168214.
Orphaneti974. Adams-Oliver syndrome.
PharmGKBiPA34292.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3743. Eukaryota.
ENOG410XV7K. LUCA.
GeneTreeiENSGT00390000005197.
HOGENOMiHOG000253907.
HOVERGENiHBG006618.
InParanoidiQ06330.
KOiK06053.
OMAiVIVILHA.
OrthoDBiEOG091G057S.
PhylomeDBiQ06330.
TreeFamiTF314117.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000168214-MONOMER.
ReactomeiR-HSA-1912408. Pre-NOTCH Transcription and Translation.
R-HSA-210744. Regulation of gene expression in late stage (branching morphogenesis) pancreatic bud precursor cells.
R-HSA-2122947. NOTCH1 Intracellular Domain Regulates Transcription.
R-HSA-2197563. NOTCH2 intracellular domain regulates transcription.
R-HSA-2644606. Constitutive Signaling by NOTCH1 PEST Domain Mutants.
R-HSA-2894862. Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants.
R-HSA-350054. Notch-HLH transcription pathway.
SignaLinkiQ06330.
SIGNORiQ06330.

Miscellaneous databases

ChiTaRSiRBPJ. human.
EvolutionaryTraceiQ06330.
GeneWikiiRBPJ.
GenomeRNAii3516.
PROiQ06330.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000168214.
CleanExiHS_RBPJ.
ExpressionAtlasiQ06330. baseline and differential.
GenevisibleiQ06330. HS.

Family and domain databases

Gene3Di2.60.40.10. 1 hit.
2.60.40.1450. 1 hit.
InterProiIPR015350. Beta-trefoil_DNA-bd_dom.
IPR013783. Ig-like_fold.
IPR014756. Ig_E-set.
IPR015351. LAG1_DNA-bd.
IPR008967. p53-like_TF_DNA-bd.
[Graphical view]
PfamiPF09270. BTD. 1 hit.
PF09271. LAG1-DNAbind. 1 hit.
[Graphical view]
SMARTiSM01268. BTD. 1 hit.
SM01267. LAG1_DNAbind. 1 hit.
[Graphical view]
SUPFAMiSSF110217. SSF110217. 1 hit.
SSF49417. SSF49417. 1 hit.
SSF81296. SSF81296. 1 hit.
ProtoNetiSearch...

Entry informationi

Entry nameiSUH_HUMAN
AccessioniPrimary (citable) accession number: Q06330
Secondary accession number(s): B4DY22, Q5XKH9, Q6P1N3
Entry historyi
Integrated into UniProtKB/Swiss-Prot: June 1, 1994
Last sequence update: June 28, 2011
Last modified: November 2, 2016
This is version 168 of the entry and version 3 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Caution

Despite some similarity with the "phage" integrase family, it has no recombinase activity.Curated

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 4
    Human chromosome 4: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.