TAR syndrome (Homo sapiens)

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299, 173223011, 339, 17246, 15278, 10, 12, 258, 10, 2575, 1814403353719242611, 333, 8, 10, 22, 25381335, 3611, 3320141, 411, 339, 17262423286, 152623243912, 31309, 1711, 3329In response to sensing of non-self RNASplicing modulationTumour cell growthSteroid hormone signallingExon junction complex disassembly in the cytoplasm and translation enhancement of exon junction complex bearing spliced mRNAFormation of proapoptotic isoformsRequired for pre-mRNA as component of the splicosomechr1:145,807,817In activated NK cellsTraps exon junction complexonto spliced mRNAVoltage dependent anion channel required foracidification and functions of the Golgi apparatusthat may function in counter-ion conductance Maturation of NK cellsStabilizingchr1:145,394,955Function unknownProduction of anti-microbial proteinsand inflammatory cytokinesProbably involved in hydrolysis of nucleoside diphosphate derivativesPeroxisome proliferation/divisionprobably non-functionalpseudogeneIron uptake and transportCD3ITGA10LCKNFKB1TNFRSF14TBPDNM1SLC22A4POLR3CHDAC2NUDT17CD247DNA-directed RNA polymerase III complex, POLR3GL variantPIAS3EIF4A3SUMO2PEX11BRBM8ACCAR2Nonsense-Mediated DecayHLA-APDZK1IP1PYM1CollagenHAMPCostimulation by the CD28 familyCXCR4MTA1MITD1STAT3BRF1PDZK1Pathways of nucleic acid metabolism and innate immune sensingSLC22A12FARP2CD160SLC34A3FURINHLA-BSLKANKRD35PEX19CLCN3DNALIX1LRNF115HLA-CPOLR3CTCR signalingPOLR3GLInterferon Type I (α/β/δ...)EGFRGPR89AHLA-GTXNDDIT4POLR3FMAGOHFLT3POLR3GHJVANKRD34ARBCK1TXNIPBCL2L13ZFHX3JAK/STAT pathwayPI3K CascadeSIRT1PI3KCell cycleUBE2IBMPSLC9A3R1mTORC1IFNGAngiogenesisITGB1DNAGNRHR2AKAP10CFTRMETRBM8AMTA1SCCAR2SZFHX3CXCR4METFLT3EGFRUUUUDuring viral infectionCatalysisBindingUbiquitinatedLEGENDInhibitionSumoylatedConversionStimulationUSLIX1LSRNA3838HLA-C38HLA-EHLA-FHLA-G


Description

The TAR syndrome (Thrombocytopenia with Absent Radius) is a rare genetic disorder caused by a deletion on the chromosome 1 (GRCh37: chr1:145,394,955-145,807,817 according to Kirov et al. 2014 10.1016/j.biopsych.2013.07.022). The most notable symptoms are the absence of the radius bone, reduced platelet count and cardiac defects. Additionally, patients have an increased susceptibility for psychiatric disorders.

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Bibliography

View all...
  1. Maeda Y, Ide T, Koike M, Uchiyama Y, Kinoshita T; ''GPHR is a novel anion channel critical for acidification and functions of the Golgi apparatus.''; Nat Cell Biol, 2008 PubMed Europe PMC Scholia
  2. Viganò S, Banga R, Bellanger F, Pellaton C, Farina A, Comte D, Harari A, Perreau M; ''CD160-associated CD8 T-cell functional impairment is independent of PD-1 expression.''; PLoS Pathog, 2014 PubMed Europe PMC Scholia
  3. Gehring NH, Neu-Yilik G, Schell T, Hentze MW, Kulozik AE; ''Y14 and hUpf3b form an NMD-activating complex.''; Mol Cell, 2003 PubMed Europe PMC Scholia
  4. Matsuda A, Suzuki Y, Honda G, Muramatsu S, Matsuzaki O, Nagano Y, Doi T, Shimotohno K, Harada T, Nishida E, Hayashi H, Sugano S; ''Large-scale identification and characterization of human genes that activate NF-kappaB and MAPK signaling pathways.''; Oncogene, 2003 PubMed Europe PMC Scholia
  5. Le Bouteiller P, Barakonyi A, Giustiniani J, Lenfant F, Marie-Cardine A, Aguerre-Girr M, Rabot M, Hilgert I, Mami-Chouaib F, Tabiasco J, Boumsell L, Bensussan A; ''Engagement of CD160 receptor by HLA-C is a triggering mechanism used by circulating natural killer (NK) cells to mediate cytotoxicity.''; Proc Natl Acad Sci U S A, 2002 PubMed Europe PMC Scholia
  6. Rabot M, El Costa H, Polgar B, Marie-Cardine A, Aguerre-Girr M, Barakonyi A, Valitutti S, Bensussan A, Le Bouteiller P; ''CD160-activating NK cell effector functions depend on the phosphatidylinositol 3-kinase recruitment.''; Int Immunol, 2007 PubMed Europe PMC Scholia
  7. Cai G, Anumanthan A, Brown JA, Greenfield EA, Zhu B, Freeman GJ; ''CD160 inhibits activation of human CD4+ T cells through interaction with herpesvirus entry mediator.''; Nat Immunol, 2008 PubMed Europe PMC Scholia
  8. Gehring NH, Kunz JB, Neu-Yilik G, Breit S, Viegas MH, Hentze MW, Kulozik AE; ''Exon-junction complex components specify distinct routes of nonsense-mediated mRNA decay with differential cofactor requirements.''; Mol Cell, 2005 PubMed Europe PMC Scholia
  9. Ablasser A, Bauernfeind F, Hartmann G, Latz E, Fitzgerald KA, Hornung V; ''RIG-I-dependent sensing of poly(dA:dT) through the induction of an RNA polymerase III-transcribed RNA intermediate.''; Nat Immunol, 2009 PubMed Europe PMC Scholia
  10. Michelle L, Cloutier A, Toutant J, Shkreta L, Thibault P, Durand M, Garneau D, Gendron D, Lapointe E, Couture S, Le Hir H, Klinck R, Elela SA, Prinos P, Chabot B; ''Proteins associated with the exon junction complex also control the alternative splicing of apoptotic regulators.''; Mol Cell Biol, 2012 PubMed Europe PMC Scholia
  11. Chung CD, Liao J, Liu B, Rao X, Jay P, Berta P, Shuai K; ''Specific inhibition of Stat3 signal transduction by PIAS3.''; Science, 1997 PubMed Europe PMC Scholia
  12. Zhang X, Yan C, Hang J, Finci LI, Lei J, Shi Y; ''An Atomic Structure of the Human Spliceosome.''; Cell, 2017 PubMed Europe PMC Scholia
  13. Schrader M, Reuber BE, Morrell JC, Jimenez-Sanchez G, Obie C, Stroh TA, Valle D, Schroer TA, Gould SJ; ''Expression of PEX11beta mediates peroxisome proliferation in the absence of extracellular stimuli.''; J Biol Chem, 1998 PubMed Europe PMC Scholia
  14. Li X, Gould SJ; ''The dynamin-like GTPase DLP1 is essential for peroxisome division and is recruited to peroxisomes in part by PEX11.''; J Biol Chem, 2003 PubMed Europe PMC Scholia
  15. Giustiniani J, Bensussan A, Marie-Cardine A; ''Identification and characterization of a transmembrane isoform of CD160 (CD160-TM), a unique activating receptor selectively expressed upon human NK cell activation.''; J Immunol, 2009 PubMed Europe PMC Scholia
  16. Burger AM, Gao Y, Amemiya Y, Kahn HJ, Kitching R, Yang Y, Sun P, Narod SA, Hanna WM, Seth AK; ''A novel RING-type ubiquitin ligase breast cancer-associated gene 2 correlates with outcome in invasive breast cancer.''; Cancer Res, 2005 PubMed Europe PMC Scholia
  17. Chiu YH, Macmillan JB, Chen ZJ; ''RNA polymerase III detects cytosolic DNA and induces type I interferons through the RIG-I pathway.''; Cell, 2009 PubMed Europe PMC Scholia
  18. Agrawal S, Marquet J, Freeman GJ, Tawab A, Bouteiller PL, Roth P, Bolton W, Ogg G, Boumsell L, Bensussan A; ''Cutting edge: MHC class I triggering by a novel cell surface ligand costimulates proliferation of activated human T cells.''; J Immunol, 1999 PubMed Europe PMC Scholia
  19. Liyanage NP, Fernando MR, Lou MF; ''Regulation of the bioavailability of thioredoxin in the lens by a specific thioredoxin-binding protein (TBP-2).''; Exp Eye Res, 2007 PubMed Europe PMC Scholia
  20. Sun X, Li J, Dong FN, Dong JT; ''Characterization of nuclear localization and SUMOylation of the ATBF1 transcription factor in epithelial cells.''; PLoS One, 2014 PubMed Europe PMC Scholia
  21. Koch J, Pranjic K, Huber A, Ellinger A, Hartig A, Kragler F, Brocard C; ''PEX11 family members are membrane elongation factors that coordinate peroxisome proliferation and maintenance.''; J Cell Sci, 2010 PubMed Europe PMC Scholia
  22. Fribourg S, Gatfield D, Izaurralde E, Conti E; ''A novel mode of RBD-protein recognition in the Y14-Mago complex.''; Nat Struct Biol, 2003 PubMed Europe PMC Scholia
  23. ''''; , PubMed Europe PMC Scholia
  24. Silvestri L, Pagani A, Nai A, De Domenico I, Kaplan J, Camaschella C; ''The serine protease matriptase-2 (TMPRSS6) inhibits hepcidin activation by cleaving membrane hemojuvelin.''; Cell Metab, 2008 PubMed Europe PMC Scholia
  25. Lee HC, Choe J, Chi SG, Kim YK; ''Exon junction complex enhances translation of spliced mRNAs at multiple steps.''; Biochem Biophys Res Commun, 2009 PubMed Europe PMC Scholia
  26. Wang Y, Peng M, Zhong Y, Xiong W, Zhu L, Jin X; ''The E3 ligase RBCK1 reduces the sensitivity of ccRCC to sunitinib through the ANKRD35-MITD1-ANXA1 axis.''; Oncogene, 2023 PubMed Europe PMC Scholia
  27. Nakamura S, Kahyo T, Tao H, Shibata K, Kurabe N, Yamada H, Shinmura K, Ohnishi K, Sugimura H; ''Novel roles for LIX1L in promoting cancer cell proliferation through ROS1-mediated LIX1L phosphorylation.''; Sci Rep, 2015 PubMed Europe PMC Scholia
  28. Wang Q, Lei M, Wu J; ''A structural perspective of human RNA polymerase III.''; RNA Biol, 2022 PubMed Europe PMC Scholia
  29. Fons P, Chabot S, Cartwright JE, Lenfant F, L'Faqihi F, Giustiniani J, Herault JP, Gueguen G, Bono F, Savi P, Aguerre-Girr M, Fournel S, Malecaze F, Bensussan A, Plouët J, Le Bouteiller P; ''Soluble HLA-G1 inhibits angiogenesis through an apoptotic pathway and by direct binding to CD160 receptor expressed by endothelial cells.''; Blood, 2006 PubMed Europe PMC Scholia
  30. ''''; , PubMed Europe PMC Scholia
  31. Zhan X, Yan C, Zhang X, Lei J, Shi Y; ''Structure of a human catalytic step I spliceosome.''; Science, 2018 PubMed Europe PMC Scholia
  32. ''''; , PubMed Europe PMC Scholia
  33. ''''; , PubMed Europe PMC Scholia
  34. Amemiya Y, Azmi P, Seth A; ''Autoubiquitination of BCA2 RING E3 ligase regulates its own stability and affects cell migration.''; Mol Cancer Res, 2008 PubMed Europe PMC Scholia
  35. Fransen M, Wylin T, Brees C, Mannaerts GP, Van Veldhoven PP; ''Human pex19p binds peroxisomal integral membrane proteins at regions distinct from their sorting sequences.''; Mol Cell Biol, 2001 PubMed Europe PMC Scholia
  36. Sacksteder KA, Jones JM, South ST, Li X, Liu Y, Gould SJ; ''PEX19 binds multiple peroxisomal membrane proteins, is predominantly cytoplasmic, and is required for peroxisome membrane synthesis.''; J Cell Biol, 2000 PubMed Europe PMC Scholia
  37. Shin KH, Kim RH, Kang MK, Park NH; ''hnRNP G elicits tumor-suppressive activity in part by upregulating the expression of Txnip.''; Biochem Biophys Res Commun, 2008 PubMed Europe PMC Scholia
  38. Smith CJ, Berry DM, McGlade CJ; ''The E3 ubiquitin ligases RNF126 and Rabring7 regulate endosomal sorting of the epidermal growth factor receptor.''; J Cell Sci, 2013 PubMed Europe PMC Scholia
  39. Gisler SM, Pribanic S, Bacic D, Forrer P, Gantenbein A, Sabourin LA, Tsuji A, Zhao ZS, Manser E, Biber J, Murer H; ''PDZK1: I. a major scaffolder in brush borders of proximal tubular cells.''; Kidney Int, 2003 PubMed Europe PMC Scholia
  40. Gentzsch M, Cui L, Mengos A, Chang XB, Chen JH, Riordan JR; ''The PDZ-binding chloride channel ClC-3B localizes to the Golgi and associates with cystic fibrosis transmembrane conductance regulator-interacting PDZ proteins.''; J Biol Chem, 2003 PubMed Europe PMC Scholia

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

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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

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