GALNT1
Description
The GALNT1 (polypeptide N-acetylgalactosaminyltransferase 1) is a protein-coding gene located on chromosome 18.
GALNT1 encodes an enzyme belonging to the UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase (GalNAc-T) family. GalNAc-Ts initiate mucin-type O-linked glycosylation in the Golgi apparatus by transferring GalNAc to serine and threonine residues on target proteins. These enzymes share a common structure with an N-terminal transmembrane domain, a stem region, a lumenal catalytic domain (containing a GT1 motif and Gal/GalNAc transferase motif), and a C-terminal ricin/lectin-like domain. Despite their similar structures, GalNAc-Ts exhibit different, yet overlapping, substrate specificities and expression patterns. Multiple transcript variants have been identified for this gene, which utilize alternative polyA signals.
GALNT1 initiates the synthesis of O-linked oligosaccharides by attaching an N-acetyl-D-galactosamine (GalNAc) residue to serine or threonine residues on protein receptors. It displays broad substrate specificity, including apomucin, MUC5AC, MUC1, and MUC2-derived peptides.
GALNT1 is also known as GALNAC-T1.
Associated Diseases
- COVID-19
- breast cancer
- immunodeficiency 80 with or without congenital cardiomyopathy
- congenitally corrected transposition of the great arteries
- ATTRV122I amyloidosis
- autoimmune lymphoproliferative syndrome type 2A
- acquired von willebrand syndrome
- lymphoproliferative syndrome 1
