TAR syndrome (Homo sapiens)

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6127, 233, 93, 9271442114178, 10151, 24, 258, 1012, 335, 1331177, 23163118, 323, 94128, 103, 9113, 928222627333019, 20158, 108, 101, 20, 24, 258, 101, 21, 24, 25, 29Lys-48 and/or Lys-63 linkedNucleoside diphosphate derivativeschr1:145,394,955Voltage dependent anion channel required foracidification and functions of the Golgi apparatusthat may function in counter-ion conductance In the brush border of the proximal tubule of the kidneyType I IFNsSubstratesE2 dependentSensesReceptor for classical andnon-classical MHCI moleculesIn HSCsIn activated T-cellsDNAAntigenRequired for pre-mRNA as component of the splicosomeSplicing modulationProgressivelyNK cell cytotoxic activityBidirectional signallingT-cell exhaustionPersistentAngiogenesisMaintaining normal cholesterol levelsRNA polymeraseEJC disassembly in the cytoplasm and translation enhancement of EJC-bearing spliced mRNACostimulatory signals toactivated/memory CD8+ T-cellsDuring viral infectionFunction unknownFormation of proapoptotic isoformsMulti drug resistanceIn activated NK cellsOn CD8+ T-cellsNF-κBOn NK cellsMost probably non-functionalStabilizingIn response to sensing of non-self RNADuring bacterial infectionTraps EJC onto spliced mRNAReceptor for collagenIn immune privileged sitesMembrane protrusion and elongationon the peroxisomal surfaceHydrolysisOn activated CD4+ T-cellsCluster proteins, modulate theirtrafficking and activityMaturation of NK cellsFLT3HepcidinTumour cell growthSIRT1CD160NUDT17RIG-I pathwayCCAR2CDKN1BMETHLA-GLIX1LJAK/STAT pathwayNHERF1PEX11BCD3PDZK1IP1BCL2L13RBM8ACXCR4RNAGNRHR2EGFRPOLR3GLProteasomal degradation of DDIT4CD247Peroxisomal proliferationPOLR3CProduction of anti-microbial proteinsand inflammatory cytokinesViral peptideZFHX3DNM1LPIAS3TXNIPITGA10LCKMTA1TCR signallingTBPSCARB1Nonsense mediated decay pathwaySUMO1HFE2ABCC2POLR3CSubstrateTNFRSF14TXNUBE2IIron homeostasisRABL3DNACFTRSteroid hormone signalling pathwayHLA-ACD28 costimulatory signalingSTAT3DNAMAGOHnon-self RNARNAPOLR3FmTORC1PYM1non-self dsDNASLC26A6COPS5BRF1PDZK1PDZK1POLR3GHLA-CEIF4A3GnRH-IIGPR89AANKRD35CollagenSignalling pathwaysPI3KPeroxisome divisionRNF115ANKRD34ABMPLymphocyte developmentIFNGRBM8AMTA1SCCAR2SZFHX3SubstrateUCXCR4METFLT3EGFRUUUUSignalling pathwaysDuring viral infectionHLA-AIn immune privileged sitesFunction unknownFunction unknownCatalysisBindingUbiquitinatedLEGENDInhibitionSumoylatedConversionStimulationUS


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Bibliography

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History

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CompareRevisionActionTimeUserComment
134655view09:21, 24 July 2024EgonwCompleted a datasource
134452view00:02, 22 July 2024EweitzOntology Term : 'disease of mental health' added !
127046view09:38, 26 July 2023FehrhartOntology Term : 'Disease' added !
127045view09:38, 26 July 2023FehrhartOntology Term : 'disease pathway' added !
127044view09:37, 26 July 2023FehrhartModified description
127043view09:30, 26 July 2023Fehrhartcorrections and updates (done)
127042view07:47, 26 July 2023Fehrhartupdate in progress
127041view06:54, 26 July 2023Fehrhartupdate in progress
127029view13:11, 24 July 2023Fehrhartupdate
127028view12:36, 24 July 2023Fehrhartupgrade
127027view12:00, 24 July 2023Fehrhartupgrade
126901view14:14, 30 June 2023JmillanacostaChanged legend interactions and nodes to graphical objects
126849view09:37, 27 June 2023Ewoud
126578view15:20, 4 June 2023Ewoudfiller
126517view15:21, 23 May 2023EwoudNew pathway

External references

DataNodes

View all...
NameTypeDatabase referenceComment
ABCC2GeneProductENSG00000023839 (Ensembl)
ANKRD34AGeneProductENSG00000181039 (Ensembl)
ANKRD35GeneProductENSG00000198483 (Ensembl)
BCL2L13GeneProductENSG00000099968 (Ensembl)
BMPMetaboliteCHEBI:60815 (ChEBI)
BRF1GeneProductENSG00000185024 (Ensembl)
CCAR2GeneProductENSG00000158941 (Ensembl)
CD160GeneProductENSG00000117281 (Ensembl)
CD247GeneProductENSG00000198821 (Ensembl)
CD28 costimulatory signalingPathway
CD3GeneProductENSG00000167286 (Ensembl)
CDKN1BGeneProductENSG00000111276 (Ensembl)
CFTRGeneProductENSG00000001626 (Ensembl)
COPS5GeneProductENSG00000121022 (Ensembl)
CXCR4GeneProductENSG00000121966 (Ensembl)
CollagenMetaboliteCHEBI:3815 (ChEBI)
DNAGeneProduct
DNM1LGeneProductENSG00000087470 (Ensembl)
EGFRGeneProductENSG00000146648 (Ensembl)
EIF4A3GeneProductENSG00000141543 (Ensembl)
FLT3GeneProductENSG00000122025 (Ensembl)
GNRHR2GeneProductENSG00000211451 (Ensembl)
GPR89AGeneProductENSG00000117262 (Ensembl)
GnRH-IIMetaboliteCHEBI:80298 (ChEBI)
HFE2GeneProductENSG00000168509 (Ensembl)
HLA-AGeneProductENSG00000206503 (Ensembl)
HLA-CGeneProductENSG00000204525 (Ensembl)
HLA-GGeneProductENSG00000204632 (Ensembl)
HepcidinMetaboliteHMDB0259694 (HMDB)
IFNGGeneProductENSG00000111537 (Ensembl)
ITGA10GeneProductENSG00000143127 (Ensembl)
Iron homeostasisPathway
JAK/STAT pathwayPathwaymap04630 (KEGG Pathway)
LCKGeneProductENSG00000182866 (Ensembl)
LIX1LGeneProductENSG00000152022 (Ensembl)
Lymphocyte developmentPathway
MAGOHGeneProductENSG00000162385 (Ensembl)
METGeneProductENSG00000105976 (Ensembl)
MTA1GeneProductENSG00000182979 (Ensembl)
Maturation of NK cellsPathway
NHERF1GeneProductENSG00000109062 (Ensembl)
NUDT17GeneProductENSG00000186364 (Ensembl)
Nonsense mediated decay pathwayPathway
PDZK1GeneProductENSG00000174827 (Ensembl)
PDZK1IP1GeneProductENSG00000162366 (Ensembl)
PEX11BGeneProductENSG00000131779 (Ensembl)
PI3KMetaboliteCHEBI:89296 (ChEBI)
PIAS3GeneProductENSG00000131788 (Ensembl)
POLR3CGeneProductENSG00000186141 (Ensembl)
POLR3FGeneProductENSG00000132664 (Ensembl)
POLR3GGeneProductENSG00000113356 (Ensembl)
POLR3GLGeneProductENSG00000121851 (Ensembl)
PYM1GeneProductENSG00000170473 (Ensembl)
Peroxisomal proliferationPathway
Peroxisome divisionPathway
Production of anti-microbial proteins and inflammatory cytokinesPathway
Proteasomal degradation of DDIT4Pathway
RABL3GeneProductENSG00000144840 (Ensembl)
RBM8AGeneProductENSG00000131795 (Ensembl)
RIG-I pathwayPathway
RNARna
RNF115GeneProductENSG00000121848 (Ensembl)
SCARB1GeneProductENSG00000073060 (Ensembl)
SIRT1GeneProductENSG00000096717 (Ensembl)
SLC26A6GeneProductENSG00000225697 (Ensembl)
STAT3GeneProductENSG00000168610 (Ensembl)
SUMO1GeneProductENSG00000116030 (Ensembl)
Signalling pathwaysPathway
Steroid hormone signalling pathwayPathway
SubstrateMetabolite
TBPMetaboliteCHEBI:35019 (ChEBI)
TCR signallingPathway
TNFRSF14GeneProductENSG00000157873 (Ensembl)
TXNGeneProductENSG00000136810 (Ensembl)
TXNIPGeneProductENSG00000117289 (Ensembl)
Tumour cell growthPathway
UBE2IGeneProductENSG00000103275 (Ensembl)
Viral peptideMetabolite
ZFHX3GeneProductENSG00000140836 (Ensembl)
mTORC1ProteinF5H479 (Uniprot-TrEMBL)
non-self RNARna
non-self dsDNAGeneProduct

Annotated Interactions

No annotated interactions

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