TAR syndrome (Homo sapiens)

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107, 2514, 33154, 13309, 211652628307, 252, 177, 253, 14, 19, 32231029109, 218, 22242051, 3, 11, 19, 321224, 30207, 2569, 213, 19, 327, 259, 219, 212, 179, 2162618312728DNAAngiogenesisT-cell exhaustionReceptor for classical andnon-classical MHCI moleculesNF-κBTraps EJC onto spliced mRNARequired for pre-mRNA as component of the splicosomeDuring viral infectionType I IFNsOn activated CD4+ T-cellsEJC disassembly in the cytoplasm and translation enhancement of EJC-bearing spliced mRNAReceptor for collagenCostimulatory signals toactivated/memory CD8+ T-cellsCluster proteins, modulate theirtrafficking and activityIn activated T-cellsHydrolysisOn NK cellsStabilizingIn the brush border of the proximal tubule of the kidneyLys-48 and/or Lys-63 linkedBidirectional signallingSubstratesNucleoside diphosphate derivativesVoltage dependent anion channel required foracidification and functions of the Golgi apparatusthat may function in counter-ion conductance PersistentE2 dependentNK cell cytotoxic activityRNA polymeraseIn HSCsFunction unknownDuring bacterial infectionMost probably non-functionalSplicing modulationOn CD8+ T-cellsMaintaining normal cholesterol levelsIn immune privileged sitesFormation of proapoptotic isoformsProgressivelyIn activated NK cellsMembrane protrusion and elongationon the peroxisomal surfaceSensesIn response to sensing of non-self RNAAntigenchr1:145,394,955Multi drug resistanceIron homeostasisBRF1ITGA10TXNIPPYM1ANKRD35POLR3FCD3GnRH-IICollagennon-self RNANUDT17STAT3DNAPIAS3EIF4A3METLIX1LSubstrateCCAR2Nonsense mediated decay pathwayPOLR3GLCDKN1BCOPS5TNFRSF14TXNCD247mTORC1non-self dsDNACD28 costimulatory signalingHLA-APeroxisomal proliferationPDZK1Steroid hormone signalling pathwayPI3KMAGOHSignalling pathwaysUBE2IPDZK1IP1SIRT1SUMO1Production of anti-microbial proteinsand inflammatory cytokinesProteasomal degradation of DDIT4FLT3TCR signallingMaturation of NK cellsNHERF1DNAHLA-CTumour cell growthABCC2BCL2L13HepcidinSLC26A6EGFRRNAHLA-GCFTRCXCR4POLR3GTBPDNM1LGNRHR2RNARBM8AGPR89APeroxisome divisionPEX11BZFHX3JAK/STAT pathwayIFNGANKRD34ARIG-I pathwayLymphocyte developmentPOLR3CBMPPOLR3CRNF115SCARB1PDZK1LCKHFE2RABL3MTA1Viral peptideCD160RBM8AMTA1SCCAR2SZFHX3SubstrateUCXCR4METFLT3EGFRUUUUSignalling pathwaysDuring viral infectionHLA-AIn immune privileged sitesFunction unknownFunction unknown


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Bibliography

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History

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CompareRevisionActionTimeUserComment
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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