Defective GALNT12 causes CRCS1

Stable Identifier
Homo sapiens
Defective GALNT12 causes colorectal cancer 1 (CRCS1)
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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).
Literature References
PubMed ID Title Journal Year
22183981 Control of mucin-type O-glycosylation: a classification of the polypeptide GalNAc-transferase gene family

Fritz, TA, Mandel, U, Bennett, EP, Tabak, LA, Gerken, TA, Clausen, H

Glycobiology 2012
9394011 Localization of three human polypeptide GalNAc-transferases in HeLa cells suggests initiation of O-linked glycosylation throughout the Golgi apparatus

Whitehouse, C, White, J, Bennett, EP, Olivo, JC, Röttger, S, Berger, EG, Nilsson, T, Stark, A, Wandall, HH, Clausen, H

J Cell Sci 1998
22461326 Inherited deleterious variants in GALNT12 are associated with CRC susceptibility

Parfrey, PS, Younghusband, HB, Clarke, E, Mahoney, K, Green, RC, Green, JS, Woods, MO

Hum. Mutat. 2012
19617566 Inactivating germ-line and somatic mutations in polypeptide N-acetylgalactosaminyltransferase 12 in human colon cancers

Papadopoulos, N, Lowe, JB, Lawrence, E, Wiesner, GL, Willis, J, Moinova, H, Dawson, DW, Ravi, L, Jamison, O, Lewis, S, Lutterbaugh, J, Markowitz, SD, Gerken, TA, Barnholtz-Sloan, J, Kinzler, KW, Vogelstein, B, Natale, L, He, J, Velculescu, VE, Willson, JK, Parmigiani, G, Guda, K

Proc. Natl. Acad. Sci. U.S.A. 2009
9295285 Substrate specificities of three members of the human UDP-N-acetyl-alpha-D-galactosamine:Polypeptide N-acetylgalactosaminyltransferase family, GalNAc-T1, -T2, and -T3

Burchell, J, Bennett, EP, Hassan, H, Taylor-Papadimitriou, J, Roepstorff, P, Hollingsworth, MA, Kristensen, AK, Nielsen, PA, Mirgorodskaya, E, Wandall, HH, Clausen, H

J Biol Chem 1997
12135769 Molecular cloning and characterization of a novel member of the UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase family, pp-GalNAc-T12

Iwasaki, H, Tachibana, K, Kubota, T, Wang, H, Zhang, Y, Narimatsu, H, Guo, JM, Cheng, L

FEBS Lett. 2002
Name Identifier Synonyms
colorectal cancer DOID:9256
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