Reactome | Defective GALNT12 causes CRCS1

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Defective GALNT12 causes CRCS1 Show undefined attributes

authored	[InstanceEdit:5083634] Jassal, B, 2013-11-07
created	[InstanceEdit:5083634] Jassal, B, 2013-11-07
crossReference	[DatabaseIdentifier:12020752] Mondo:0005575
dbId	5083636
disease	[Disease:4791250] colorectal cancer
displayName	Defective GALNT12 causes CRCS1
edited	[InstanceEdit:5083634] Jassal, B, 2013-11-07
eventOf	[Pathway:R-HSA-3906995] Diseases associated with O-glycosylation of proteins - Homo sapiens
hasDiagram	true
hasEHLD	false
hasEvent	[FailedReaction:R-HSA-5096532] Defective GALNT12 does not transfer GalNAc to mucins - Homo sapiens
isInDisease	true
isInferred	false
lastUpdatedDate	2019-03-25
literatureReference	[LiteratureReference:5138138] Molecular cloning and characterization of a novel member of the UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase family, pp-GalNAc-T12 [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 [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
maxDepth	2
modified	[InstanceEdit:9847082] Weiser, Joel, 2023-10-12
name	Defective GALNT12 causes CRCS1 Defective GALNT12 causes colorectal cancer 1 (CRCS1)
normalPathway	[Pathway:R-HSA-5173105] O-linked glycosylation
releaseDate	2016-03-23
reviewStatus	[ReviewStatus:9821382] five stars
reviewed	[InstanceEdit:8849944] Hansen, Lars, Joshi, Hiren, 2015-12-18
schemaClass	Pathway
species	[Species:48887] Homo sapiens
stId	R-HSA-5083636
summation	[Summation:5138155] The family of UDP GalNAc:polypeptide N acetylgalactosaminylt...
updateTrackers	[UpdateTracker:9778064] Update Tracker - [Pathway:5083636] Defective GALNT12 causes CRCS1 - v68:[updateContainedRLE]

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(updatedInstance)	[UpdateTracker:9778064] Update Tracker - [Pathway:5083636] Defective GALNT12 causes CRCS1 - v68:[updateContainedRLE]
(hasEvent)	[Pathway:R-HSA-3906995] Diseases associated with O-glycosylation of proteins

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