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Schema
>
FailedReaction
>
Entries
Defective GALNT12 does not transfer GalNAc to mucins
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authored
[InstanceEdit:5096550] Jassal, Bijay, 2013-11-11
catalystActivity
[CatalystActivity:9631721] polypeptide N-acetylgalactosaminyltransferase activity of GALNT12 mutants [Golgi membrane]
category
transition
compartment
[Compartment:20699] Golgi membrane
[Compartment:17963] Golgi lumen
created
[InstanceEdit:5096550] Jassal, Bijay, 2013-11-11
crossReference
[DatabaseIdentifier:12020752] Mondo:0005575
dbId
5096532
disease
[Disease:4791250] colorectal cancer
displayName
Defective GALNT12 does not transfer GalNAc to mucins
edited
[InstanceEdit:5096550] Jassal, Bijay, 2013-11-11
entityFunctionalStatus
[EntityFunctionalStatus:5138176] loss_of_function of GALNT12 mutants [Golgi membrane]
eventOf
[Pathway:R-HSA-5083636] Defective GALNT12 causes CRCS1 - Homo sapiens
input
[DefinedSet:R-HSA-913666] Mucins [Golgi lumen]
[SimpleEntity:R-ALL-735700] UDP-GalNAc [Golgi lumen]
isChimeric
false
isInDisease
true
isInferred
false
literatureReference
[LiteratureReference:8849565] Control of mucin-type O-glycosylation: a classification of the polypeptide GalNAc-transferase gene family
[LiteratureReference:977014] Localization of three human polypeptide GalNAc-transferases in HeLa cells suggests initiation of O-linked glycosylation throughout the Golgi apparatus
[LiteratureReference:976842] Substrate specificities of three members of the human UDP-N-acetyl-alpha-D-galactosamine:Polypeptide N-acetylgalactosaminyltransferase family, GalNAc-T1, -T2, and -T3
[LiteratureReference:5138139] Inactivating germ-line and somatic mutations in polypeptide N-acetylgalactosaminyltransferase 12 in human colon cancers
[LiteratureReference:5138169] Inherited deleterious variants in GALNT12 are associated with CRC susceptibility
maxDepth
1
modified
[InstanceEdit:9830342] Matthews, Lisa, 2023-03-08
name
Defective GALNT12 does not transfer GalNAc to mucins
normalReaction
[Reaction:R-HSA-913675] GALNTs transfer GalNAc to Mucins to form Tn antigens
releaseDate
2016-03-23
reviewStatus
[ReviewStatus:9821382] five stars
reviewed
[InstanceEdit:8849944] Hansen, Lars, Joshi, Hiren, 2015-12-18
schemaClass
FailedReaction
species
[Species:48887] Homo sapiens
stId
R-HSA-5096532
summation
[Summation:5138153] The family of UDP-GalNAc:polypeptide N-acetylgalactosaminyl...
updateTrackers
[UpdateTracker:9778150] Update Tracker - [FailedReaction:5096532] Defective GALNT12 does not transfer GalNAc to mucins - v68:[addCatalystActivity]
Referrals
(updatedInstance)
[UpdateTracker:9778150] Update Tracker - [FailedReaction:5096532] Defective GALNT12 does not transfer GalNAc to mucins - v68:[addCatalystActivity]
(hasEvent)
[Pathway:R-HSA-5083636] Defective GALNT12 causes CRCS1
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