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Details on Person Defective ABCB11 does not transport bile salts from cytosol to extracellular region
| Class:Id | FailedReaction:5678517 |
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| _displayName | Defective ABCB11 does not transport bile salts from cytosol to extracellular region |
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| _doRelease | TRUE |
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| _timestamp | 2015-05-25 03:54:18 |
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| authored | [InstanceEdit:5678514] Jassal, Bijay, 2015-02-24 |
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| catalystActivity | [CatalystActivity:9631813] ABC-type bile acid transporter activity of ABCB11 mutants [plasma membrane] |
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| compartment | [Compartment:876] plasma membrane
[Compartment:70101] cytosol |
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| created | [InstanceEdit:5678514] Jassal, Bijay, 2015-02-24 |
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| disease | [Disease:5678502] intrahepatic cholestasis |
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| edited | [InstanceEdit:5678514] Jassal, Bijay, 2015-02-24 |
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| entityFunctionalStatus | [EntityFunctionalStatus:5678503] loss_of_function of ABCB11 mutants [plasma membrane] |
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| input | [DefinedSet:193416] bile salts [cytosol]
[SimpleEntity:113592] ATP [cytosol]
[SimpleEntity:29356] H2O [cytosol] |
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| literatureReference | [LiteratureReference:193414] Impaired expression and function of the bile salt export pump due to three novel ABCB11 mutations in intrahepatic cholestasis
[LiteratureReference:5684898] A gene encoding a liver-specific ABC transporter is mutated in progressive familial intrahepatic cholestasis |
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| modified | [InstanceEdit:5678576] Jassal, Bijay, 2015-02-24
[InstanceEdit:5684903] Jassal, Bijay, 2015-03-24
[InstanceEdit:5690295] Jassal, Bijay, 2015-04-28
[InstanceEdit:9631717] Wu, G, 2018-12-12
[InstanceEdit:9830342] Matthews, Lisa, 2023-03-08 |
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| name | Defective ABCB11 does not transport bile salts from cytosol to extracellular region
Transport (efflux) of bile salts by ABCB11 (bile salt export pump) |
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| normalReaction |
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| releaseDate | 2015-06-17 |
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| releaseStatus | NEW |
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| reviewed | [InstanceEdit:5690296] Moitra, Karobi, 2015-04-28 |
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| reviewStatus | [ReviewStatus:9821382] five stars |
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| species | [Species:48887] Homo sapiens |
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| stableIdentifier | [StableIdentifier:5695941] R-HSA-5678517.3 |
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| summation | [Summation:5678507] The bile salt export pump ABCB11 mediates the release of bil... |
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| (hasEvent) | [Pathway:5678520] Defective ABCB11 causes PFIC2 and BRIC2 [Homo sapiens] |
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| (updatedInstance) | [_UpdateTracker:9778033] Update Tracker - [FailedReaction:5678517] Defective ABCB11 does not transport bile salts from cytosol to extracellular region - v68:[addCatalystActivity] |
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