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Details on Person Defective RFT1 does not flip the N-glycan precursor
| Class:Id | FailedReaction:4570573 |
| _displayName | Defective RFT1 does not flip the N-glycan precursor |
| _doRelease | TRUE |
| _timestamp | 2024-05-16 13:59:30 |
| authored | [InstanceEdit:4570574] Jassal, B, 2013-09-23 |
| catalystActivity | [CatalystActivity:9631742] glycolipid floppase activity of RFT1 R67C [endoplasmic reticulum membrane] |
| compartment | [Compartment:12045] endoplasmic reticulum membrane [Compartment:5263266] cytoplasmic side of endoplasmic reticulum membrane |
| created | [InstanceEdit:4570574] Jassal, B, 2013-09-23 |
| disease | [Disease:3781892] congenital disorder of glycosylation type I |
| edited | [InstanceEdit:4570574] Jassal, B, 2013-09-23 |
| entityFunctionalStatus | [EntityFunctionalStatus:4570579] loss_of_function of RFT1 R67C [endoplasmic reticulum membrane] |
| input | [SimpleEntity:449332] (GlcNAc)2 (Man)5 (PP-Dol)1 [cytoplasmic side of endoplasmic reticulum membrane] |
| isChimeric | FALSE |
| literatureReference | [LiteratureReference:449289] Human RFT1 deficiency leads to a disorder of N-linked glycosylation [LiteratureReference:449763] Translocation of lipid-linked oligosaccharides across the ER membrane requires Rft1 protein |
| modified | [InstanceEdit:5083143] Jassal, B, 2013-11-05 [InstanceEdit:5615515] Jassal, Bijay, 2014-07-24 [InstanceEdit:5627272] Jassal, Bijay, 2014-10-17 [InstanceEdit:5632708] Matthews, Lisa, 2014-10-28 [InstanceEdit:5633234] Jassal, Bijay, 2014-10-31 [InstanceEdit:5635755] Matthews, Lisa, 2014-11-07 [InstanceEdit:5671966] Jassal, Bijay, 2015-02-03 [InstanceEdit:9631717] Wu, G, 2018-12-12 [InstanceEdit:9830342] Matthews, Lisa, 2023-03-08 [InstanceEdit:9910684] D'Eustachio, Peter, 2024-05-16 |
| name | Defective RFT1 does not flip the N-glycan precursor |
| normalReaction |
|
| releaseDate | 2014-12-11 |
| reviewed | [InstanceEdit:5633220] Belaya, Katsiaryna, 2014-10-31 |
| reviewStatus | [ReviewStatus:9821382] five stars |
| species | [Species:48887] Homo sapiens |
| stableIdentifier | [StableIdentifier:5622809] R-HSA-4570573.4 |
| summation | [Summation:4570564] The N-glycan precursor is flipped across the ER membrane, mo... |
| systematicName | RFT1 R67C does not translocate (GlcNAc)2 (Man)5 (PP-Dol)1 from integral component of cytoplasmic side of endoplasmic reticulum membrane to integral component of lumenal side of endoplasmic reticulum membrane |
| (hasEvent) | [Pathway:4570571] Defective RFT1 causes CDG-1n [Homo sapiens] |
| (updatedInstance) | [_UpdateTracker:9778348] Update Tracker - [FailedReaction:4570573] Defective RFT1 does not flip the N-glycan precursor - v68:[addCatalystActivity] |
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