Polypeptide N-acetylgalactosaminyltransferase 3 is an enzyme that in humans is encoded by the GALNT3gene.[1][2][3]
This gene encodes UDP-GalNAc transferase 3, a member of the GalNAc transferase family. This family transfers an N-acetyl galactosamine to the hydroxyl group of a serine or threonine residue in the first step of O-linked oligosaccharide biosynthesis. Individual GalNAc-transferases have distinct activities and initiation of O-glycosylation is regulated by a repertoire of GalNAc-transferases. The protein encoded by this gene is highly homologous to other family members; however, the enzymes have different substrate specificities.[3]
References
↑Bennett EP, Weghuis DO, Merkx G, van Kessel AG, Eiberg H, Clausen H (Jul 1998). "Genomic organization and chromosomal localization of three members of the UDP-N-acetylgalactosamine: polypeptide N-acetylgalactosaminyltransferase family". Glycobiology. 8 (6): 547–55. doi:10.1093/glycob/8.6.547. PMID9592121.
↑Topaz O, Shurman DL, Bergman R, Indelman M, Ratajczak P, Mizrachi M, Khamaysi Z, Behar D, Petronius D, Friedman V, Zelikovic I, Raimer S, Metzker A, Richard G, Sprecher E (May 2004). "Mutations in GALNT3, encoding a protein involved in O-linked glycosylation, cause familial tumoral calcinosis". Nat Genet. 36 (6): 579–81. doi:10.1038/ng1358. PMID15133511.
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Wandall HH, Hassan H, Mirgorodskaya E, et al. (1997). "Substrate specificities of three members of the human UDP-N-acetyl-alpha-D-galactosamine:Polypeptide N-acetylgalactosaminyltransferase family, GalNAc-T1, -T2, and -T3". J. Biol. Chem. 272 (38): 23503–14. doi:10.1074/jbc.272.38.23503. PMID9295285.
Röttger S, White J, Wandall HH, et al. (1998). "Localization of three human polypeptide GalNAc-transferases in HeLa cells suggests initiation of O-linked glycosylation throughout the Golgi apparatus". J. Cell Sci. 111 (1): 45–60. PMID9394011.
Mandel U, Hassan H, Therkildsen MH, et al. (1999). "Expression of polypeptide GalNAc-transferases in stratified epithelia and squamous cell carcinomas: immunohistological evaluation using monoclonal antibodies to three members of the GalNAc-transferase family". Glycobiology. 9 (1): 43–52. doi:10.1093/glycob/9.1.43. PMID9884405.
Argüeso P, Tisdale A, Mandel U, et al. (2003). "The cell-layer- and cell-type-specific distribution of GalNAc-transferases in the ocular surface epithelia is altered during keratinization". Invest. Ophthalmol. Vis. Sci. 44 (1): 86–92. doi:10.1167/iovs.02-0181. PMID12506059.
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Yamamoto S, Nakamori S, Tsujie M, et al. (2004). "Expression of uridine diphosphate N-acetyl-alpha-D-galactosamine: polypeptide N-acetylgalactosaminyl transferase 3 in adenocarcinoma of the pancreas". Pathobiology. 71 (1): 12–8. doi:10.1159/000072957. PMID14555840.
Miyahara N, Shoda J, Kawamoto T, et al. (2004). "Expression of UDP-N-acetyl-alpha-D-galactosamine-polypeptide N-acetylgalactosaminyltransferase isozyme 3 in the subserosal layer correlates with postsurgical survival of pathological tumor stage 2 carcinoma of the gallbladder". Clin. Cancer Res. 10 (6): 2090–9. doi:10.1158/1078-0432.CCR-1024-03. PMID15041730.
Ishikawa M, Kitayama J, Kohno K, Nagawa H (2005). "The expression pattern of UDP-N-acetyl-alpha-D-galactosamine-polypeptide N-acetyl-galactosaminyl transferase-3 in squamous cell carcinoma of the esophagus". Pathobiology. 72 (3): 139–45. doi:10.1159/000084117. PMID15860931.
Kato K, Jeanneau C, Tarp MA, et al. (2006). "Polypeptide GalNAc-transferase T3 and familial tumoral calcinosis. Secretion of fibroblast growth factor 23 requires O-glycosylation". J. Biol. Chem. 281 (27): 18370–7. doi:10.1074/jbc.M602469200. PMID16638743.
Ichikawa S, Imel EA, Sorenson AH, et al. (2007). "Tumoral calcinosis presenting with eyelid calcifications due to novel missense mutations in the glycosyl transferase domain of the GALNT3 gene". J. Clin. Endocrinol. Metab. 91 (11): 4472–5. doi:10.1210/jc.2006-1247. PMID16940445.
Barbieri AM, Filopanti M, Bua G, Beck-Peccoz P (2007). "Two novel nonsense mutations in GALNT3 gene are responsible for familial tumoral calcinosis". J. Hum. Genet. 52 (5): 464–8. doi:10.1007/s10038-007-0126-5. PMID17351710.
Inoue T, Eguchi T, Oda Y, et al. (2007). "Expression of GalNAc-T3 and its relationships with clinicopathological factors in 61 extrahepatic bile duct carcinomas analyzed using stepwise sections - special reference to its association with lymph node metastases-". Mod. Pathol. 20 (2): 267–76. doi:10.1038/modpathol.3800700. PMID17361208.