TAR syndrome (Homo sapiens)

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231930242624141, 4263833309, 1712, 3111, 339, 172428511, 335, 18242035, 362911, 338, 10, 12, 2528, 10, 2572611, 336, 159, 173911, 336, 151423373, 8, 10, 22, 2540132932279, 17Maturation of NK cellschr1:145,807,817Steroid hormone signallingFormation of proapoptotic isoformsIn response to sensing of non-self RNAStabilizingchr1:145,394,955Voltage dependent anion channel required foracidification and functions of the Golgi apparatusthat may function in counter-ion conductance Peroxisome proliferation/divisionRequired for pre-mRNA as component of the splicosomeProbably involved in hydrolysis of nucleoside diphosphate derivativesTraps exon junction complexonto spliced mRNAFunction unknownProduction of anti-microbial proteinsand inflammatory cytokinesSplicing modulationExon junction complex disassembly in the cytoplasm and translation enhancement of exon junction complex bearing spliced mRNAIn activated NK cellsprobably non-functionalpseudogeneTumour cell growthPDZK1BRF1HDAC2ITGB1HLA-ACollagenPOLR3FCD3FARP2SLC9A3R1PI3KDNA-directed RNA polymerase III complex, POLR3GL variantCFTRNUDT17ZFHX3TNFRSF14LIX1LBCL2L13PEX19PDZK1IP1GNRHR2AKAP10POLR3GLPOLR3CInterferon Type I (α/β/δ...)TXNDDIT4UBE2IHAMPRBCK1CD247EIF4A3SLC22A12MAGOHTCR signalingMTA1METPOLR3GCD160SLC22A4SUMO2FLT3PI3K CascadeLCKPIAS3mTORC1ITGA10TXNIPAngiogenesisRBM8AHLA-GSLC34A3BMPEGFRHLA-CMITD1DNAFURINTBPDNM1SIRT1CCAR2PYM1GPR89ADNAPEX11BJAK/STAT pathwayCell cycleHLA-BNFKB1Pathways of nucleic acid metabolism and innate immune sensingSTAT3POLR3CNonsense-Mediated DecayRNF115CXCR4CLCN3IFNGIron uptake and transportHJVANKRD34ASLKCostimulation by the CD28 familyANKRD35RBM8AMTA1SCCAR2SZFHX3CXCR4METFLT3EGFRUUUUDuring viral infectionCatalysisBindingUbiquitinatedLEGENDInhibitionSumoylatedConversionStimulationUSLIX1LSRNA3838HLA-C38HLA-EHLA-FHLA-G


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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

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NameTypeDatabase referenceComment
AKAP10GeneProductENSG00000108599 (Ensembl)
ANKRD34AGeneProductENSG00000181039 (Ensembl)
ANKRD35GeneProductENSG00000198483 (Ensembl)
AngiogenesisPathwayWP1539 (WikiPathways)
BCL2L13GeneProductENSG00000099968 (Ensembl)
BMPMetaboliteCHEBI:60815 (ChEBI)
BRF1GeneProductENSG00000185024 (Ensembl)
CCAR2GeneProductENSG00000158941 (Ensembl)
CD160GeneProductENSG00000117281 (Ensembl)
CD247GeneProductENSG00000198821 (Ensembl)
CD3GeneProductENSG00000167286 (Ensembl)
CFTRGeneProductENSG00000001626 (Ensembl)
CLCN3GeneProductENSG00000109572 (Ensembl)
CXCR4GeneProductENSG00000121966 (Ensembl)
Cell cyclePathwayWP179 (WikiPathways)
CollagenMetaboliteCHEBI:3815 (ChEBI)
Costimulation by the CD28 familyPathwayWP1799 (WikiPathways)
DDIT4GeneProductENSG00000168209 (Ensembl)
DNA-directed RNA polymerase III complex, POLR3GL variantComplexCPX-7482
DNAMetaboliteCHEBI:16991 (ChEBI)
DNM1GeneProductENSG00000106976 (Ensembl)
EGFRGeneProductENSG00000146648 (Ensembl)
EIF4A3GeneProductENSG00000141543 (Ensembl)
FARP2GeneProductENSG00000006607 (Ensembl)
FLT3GeneProductENSG00000122025 (Ensembl)
FURINGeneProductENSG00000140564 (Ensembl)
GNRHR2GeneProductENSG00000211451 (Ensembl)
GPR89AGeneProductENSG00000117262 (Ensembl)
HAMPGeneProductENSG00000105697 (Ensembl) Hepcidin
HDAC2GeneProductENSG00000196591 (Ensembl)
HJVGeneProductENSG00000168509 (Ensembl) HAEMOJUVELIN, HEMOJUVELIN, HFE2, HFE2A
HLA-AGeneProductENSG00000206503 (Ensembl)
HLA-BGeneProductENSG00000234745 (Ensembl)
HLA-CGeneProductENSG00000204525 (Ensembl)
HLA-EGeneProductENSG00000204592 (Ensembl)
HLA-FGeneProductENSG00000204642 (Ensembl)
HLA-GGeneProductENSG00000204632 (Ensembl)
IFNGGeneProductENSG00000111537 (Ensembl)
ITGA10GeneProductENSG00000143127 (Ensembl)
ITGB1GeneProductENSG00000150093 (Ensembl)
Interferon Type I (α/β/δ...)GeneProductPF00143 (Pfam)
Iron uptake and transportPathwayWP2670 (WikiPathways)
JAK/STAT pathwayPathwaymap04630 (KEGG Pathway)
LCKGeneProductENSG00000182866 (Ensembl)
LIX1LGeneProductENSG00000152022 (Ensembl)
MAGOHGeneProductENSG00000162385 (Ensembl)
METGeneProductENSG00000105976 (Ensembl)
MITD1GeneProductENSG00000158411 (Ensembl)
MTA1GeneProductENSG00000182979 (Ensembl)
NFKB1GeneProductENSG00000109320 (Ensembl)
NUDT17GeneProductENSG00000186364 (Ensembl)
Nonsense-Mediated DecayPathwayWP2710 (WikiPathways)
PDZK1GeneProductENSG00000174827 (Ensembl)
PDZK1IP1GeneProductENSG00000162366 (Ensembl)
PEX11BGeneProductENSG00000131779 (Ensembl)
PEX19GeneProductENSG00000162735 (Ensembl)
PI3K CascadePathwayWP4448 (WikiPathways)
PI3KGeneProductPF00454 (Pfam)
PIAS3GeneProductENSG00000131788 (Ensembl)
POLR3CGeneProductENSG00000186141 (Ensembl)
POLR3FGeneProductENSG00000132664 (Ensembl)
POLR3GGeneProductENSG00000113356 (Ensembl)
POLR3GLGeneProductENSG00000121851 (Ensembl)
PYM1GeneProductENSG00000170473 (Ensembl)
Pathways of nucleic acid metabolism and innate immune sensingPathwayWP4705 (WikiPathways)
RBCK1GeneProductENSG00000125826 (Ensembl)
RBM8AGeneProductENSG00000131795 (Ensembl)
RNAMetaboliteCHEBI:33697 (ChEBI)
RNF115GeneProductENSG00000121848 (Ensembl) BCA2, ZNF364, ring finger protein 115, ZFP364, RABRING7
SIRT1GeneProductENSG00000096717 (Ensembl)
SLC22A12GeneProductENSG00000197891 (Ensembl)
SLC22A4GeneProductENSG00000197208 (Ensembl)
SLC34A3GeneProductENSG00000198569 (Ensembl)
SLC9A3R1GeneProductENSG00000109062 (Ensembl)
SLKGeneProductENSG00000065613 (Ensembl)
STAT3GeneProductENSG00000168610 (Ensembl)
SUMO2GeneProductENSG00000188612 (Ensembl)
TBPMetaboliteCHEBI:35019 (ChEBI)
TCR signalingPathwayWP1927 (WikiPathways)
TNFRSF14GeneProductENSG00000157873 (Ensembl)
TXNGeneProductENSG00000136810 (Ensembl)
TXNIPGeneProductENSG00000117289 (Ensembl)
UBE2IGeneProductENSG00000103275 (Ensembl)
ZFHX3GeneProductENSG00000140836 (Ensembl)
mTORC1ProteinF5H479 (Uniprot-TrEMBL)

Annotated Interactions

No annotated interactions

Retrieved from "https://classic.wikipathways.org/index.php/Pathway:WP5362"
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