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Entries
Defective GALNT12 causes CRCS1
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authored
[InstanceEdit:5083634] Jassal, B, 2013年11月07日
created
[InstanceEdit:5083634] Jassal, B, 2013年11月07日
crossReference
[DatabaseIdentifier:11944899] Mondo:0005575
dbId
5083636
disease
[Disease:4791250] colorectal cancer
displayName
Defective GALNT12 causes CRCS1
edited
[InstanceEdit:5083634] Jassal, B, 2013年11月07日
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年03月25日
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年10月12日
name
Defective GALNT12 causes CRCS1
Defective GALNT12 causes colorectal cancer 1 (CRCS1)
normalPathway
[Pathway:R-HSA-5173105] O-linked glycosylation
releaseDate
2016年03月23日
reviewStatus
[ReviewStatus:9821382] five stars
reviewed
[InstanceEdit:8849944] Hansen, Lars, Joshi, Hiren, 2015年12月18日
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]
Referrals
(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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