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Details on Person Defective DPM1 does not transfer mannose to DOLP to form DOLPman
| Class:Id | FailedReaction:4717406 |
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| _displayName | Defective DPM1 does not transfer mannose to DOLP to form DOLPman |
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| _doRelease | TRUE |
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| _timestamp | 2024-05-16 13:59:21 |
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| authored | [InstanceEdit:4717398] Jassal, B, 2013-10-17 |
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| catalystActivity | [CatalystActivity:9631868] dolichyl-phosphate beta-D-mannosyltransferase activity of DPM1 mutants:DPM2:DPM3 [endoplasmic reticulum membrane] |
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| compartment | [Compartment:12045] endoplasmic reticulum membrane
[Compartment:70101] cytosol
[Compartment:5263266] cytoplasmic side of endoplasmic reticulum membrane |
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| created | [InstanceEdit:4717398] Jassal, B, 2013-10-17 |
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| disease | [Disease:3781892] congenital disorder of glycosylation type I |
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| edited | [InstanceEdit:4717398] Jassal, B, 2013-10-17 |
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| entityFunctionalStatus | [EntityFunctionalStatus:4717400] loss_of_function of DPM1 mutants:DPM2:DPM3 [endoplasmic reticulum membrane] |
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| input | [SimpleEntity:449744] DOLDP [cytoplasmic side of endoplasmic reticulum membrane]
[SimpleEntity:162860] GDP-Man [cytosol] |
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| isChimeric | FALSE |
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| literatureReference | [LiteratureReference:162702] Human dolichol-phosphate-mannose synthase consists of three subunits, DPM1, DPM2 and DPM3
[LiteratureReference:4717392] Dolichol phosphate mannose synthase (DPM1) mutations define congenital disorder of glycosylation Ie (CDG-Ie)
[LiteratureReference:4717390] Deficiency of dolichol-phosphate-mannose synthase-1 causes congenital disorder of glycosylation type Ie
[LiteratureReference:4717363] Congenital disorder of glycosylation (CDG) type Ie. A new patient |
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| modified | [InstanceEdit:5083143] Jassal, B, 2013-11-05
[InstanceEdit:5671966] Jassal, Bijay, 2015-02-03
[InstanceEdit:5690643] Jassal, Bijay, 2015-04-30
[InstanceEdit:9631717] Wu, G, 2018-12-12
[InstanceEdit:9830342] Matthews, Lisa, 2023-03-08
[InstanceEdit:9910684] D'Eustachio, Peter, 2024-05-16 |
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| name | Defective DPM1 does not transfer mannose to DOLP to form DOLPman |
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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:5690642] Spillmann, Dorothe, 2015-04-30 |
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| reviewStatus | [ReviewStatus:9821382] five stars |
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| species | [Species:48887] Homo sapiens |
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| stableIdentifier | [StableIdentifier:5695930] R-HSA-4717406.4 |
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| summation | [Summation:4717415] Dolichyl-phosphate mannosyltransferase (DPM), a heterotrimer... |
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| (hasEvent) | [Pathway:4717374] Defective DPM1 causes DPM1-CDG [Homo sapiens] |
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| (updatedInstance) | [_UpdateTracker:9777977] Update Tracker - [FailedReaction:4717406] Defective DPM1 does not transfer mannose to DOLP to form DOLPman - v68:[addCatalystActivity] |
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