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Details on Person Defective JAK3 blocks IL7R-mediated activation of STAT5
| Class:Id | FailedReaction:5602803 |
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| _displayName | Defective JAK3 blocks IL7R-mediated activation of STAT5 |
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| _doRelease | FALSE |
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| _timestamp | 2016-07-15 23:50:30 |
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| compartment | [Compartment:876] plasma membrane
[Compartment:70101] cytosol |
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| created | [InstanceEdit:5602798] Shamovsky, Veronica, 2014-06-25 |
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| disease | [Disease:5602783] janus kinase-3 deficiency |
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| entityFunctionalStatus | [EntityFunctionalStatus:5602807] loss_of_function of JAK3 E481G [cytosol] |
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| input | [SimpleEntity:113592] ATP [cytosol]
[CandidateSet:1295523] STAT5 [cytosol] [Homo sapiens] |
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| isChimeric | FALSE |
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| literatureReference | [LiteratureReference:5602809] Impaired IL-7 signaling may explain a case of atypical JAK3-SCID
[LiteratureReference:5602628] Janus kinase 3 (JAK3) deficiency: clinical, immunologic, and molecular analyses of 10 patients and outcomes of stem cell transplantation
[LiteratureReference:5602667] Complex effects of naturally occurring mutations in the JAK3 pseudokinase domain: evidence for interactions between the kinase and pseudokinase domains |
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| modified | [InstanceEdit:5602820] Shamovsky, Veronica, 2014-06-25
[InstanceEdit:5602821] Shamovsky, Veronica, 2014-06-25
[InstanceEdit:8879177] Wu, G, 2016-07-15 |
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| name | Defective JAK3 blocks IL7R-mediated activation of STAT5 |
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| normalReaction |
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| species | [Species:48887] Homo sapiens |
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| stableIdentifier | [StableIdentifier:8921899] R-HSA-5602803.1 |
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| summation | [Summation:5602805] Defects in the kinase domain JH1 or in the regulatory pseudo... |
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| (hasEvent) | [Pathway:5602780] JAK3 deficiency causes SCID (IL7R) [Homo sapiens] |
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No pathways have been reviewed or authored by Defective JAK3 blocks IL7R-mediated activation of STAT5 (5602803)
