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Defective GALNT12 causes CRCS1

Summary

Organism

Homo sapiens (human)

Reactome

R-HSA-5083636

PubChem

R-HSA-5083636

Description

The family of UDP GalNAc:polypeptide N acetylgalactosaminyltransferases (GalNAc transferases, GALNTs) carry out the addition of N acetylgalactosamine on serine, threonine or possibly tyrosine residues on a wide variety of proteins, and most commonly associated with mucins (Wandall et al. 1997). This reaction takes place in the Golgi apparatus (Rottger et al. 1998). There are 20 known members of the GALNT family, 15 of which have been characterised and 5 candidate members which are thought to belong to this family based on sequence similarity (Bennett et al. 2012). The GALNT-family is classified as belonging to CAZy family GT27. Defects in one of the GALNT family, GALNT12 (Guo et al. 2002) (MIM: 610290) can result in decreased glycosylation of mucins, mainly expressed in the digestive organs such as the stomach, small intestine and colon, and may play a role in colorectal cancer 1 (CRCS1; MIM:608812). CRCS1 is a complex disease characterised by malignant lesions arising from the inner walls of the colon and rectum (Guda et al. 2009, Clarke et al. 2012).

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SPV: a JavaScript Signaling Pathway Visualizer, Bioinformatics, 2018

Displaying entries **1 - 10** of 18 in total

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UniProt ID	Protein Name	Gene Symbol	Pathway Viewer
P15941	Mucin-1	MUC1 PUM	view
P98088	Mucin-5AC	MUC5 MUC5AC	view
Q02505	Mucin-3A	MUC3 MUC3A	view
Q02817	Mucin-2	MUC2 SMUC	view
Q5SSG8	Mucin-21	C6orf205 MUC21 UNQ697/PRO1342	view
Q685J3	Mucin-17	MUC17 MUC3	view
Q6W4X9	Mucin-6	MUC6	view
Q7Z5P9	Mucin-19	MUC19	view
Q8IXK2	Polypeptide N-acetylgalactosaminyltransferase 12	GALNT12	view
Q8N307	Mucin-20	KIAA1359 MUC20 UNQ2782/PRO7170	view

Displaying 1 entry
GlyCosmos Lectin	UniProt ID	Lectin Name	Pathway Viewer
GL_000895	Q8IXK2	Polypeptide N-acetylgalactosaminyltransferase 12	view

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