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GALNT3 an enzyme that catalyzes the initial reaction in O-linked oligosaccharide biosynthesis, the transfer of an N-acetyl-D-galactosamine residue to a serine or threonine residue on the protein receptor. A single-pass type II membrane protein that localizes to the Golgi apparatus membrane. Has activity toward HIV envelope glycoprotein gp120, EA2, Muc2 and Muc5. Probably glycosylates fibronectin in vivo. Plays a central role in phosphate homeostasis. Mutations cause cause familial tumoral calcinosis, a severe autosomal recessive metabolic disorder that manifests with hyperphosphatemia and massive calcium deposits in the skin and subcutaneous tissues. Overexpressed in many differentiated carcinomas, suggesting that it may serve as a marker of tumor differentiation. Two alternatively spliced human isoforms have been described. Note: This description may include information from UniProtKB.
Protein type: EC; Glycan Metabolism - O-glycan biosynthesis; Membrane protein, integral; Transferase
Chromosomal Location of Human Ortholog: 2q24.3
Cellular Component: Golgi apparatus; Golgi membrane; membrane; perinuclear region of cytoplasm
Molecular Function: calcium ion binding; manganese ion binding; polypeptide N-acetylgalactosaminyltransferase activity
Biological Process: fibroblast growth factor receptor signaling pathway; O-glycan processing; protein amino acid O-linked glycosylation via serine; protein amino acid O-linked glycosylation via threonine
Disease: Tumoral Calcinosis, Hyperphosphatemic, Familial
Reference #:  Q14435 (UniProtKB)
Alt. Names/Synonyms: DKFZp686C10199; GalNAc transferase 3; GalNAc-T3; GALNT3; GALT3; HFTC; HHS; MGC61909; Polypeptide GalNAc transferase 3; polypeptide GalNAc-transferase T3; Polypeptide N-acetylgalactosaminyltransferase 3; pp-GaNTase 3; Protein-UDP acetylgalactosaminyltransferase 3; UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase 3; UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 3 (GalNAc-T3)
Gene Symbols: GALNT3
Molecular weight: 72,610 Da
Basal Isoelectric point: 8.2  Predict pI for various phosphorylation states
Select Structure to View Below


Protein Structure Not Found.

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