Aliases for GALNT1 Gene
- Polypeptide N-Acetylgalactosaminyltransferase 1 2 3 4 5
- Protein-UDP Acetylgalactosaminyltransferase 1 2 3 4
- Polypeptide GalNAc Transferase 1 2 3 4
- UDP-N-Acetyl-Alpha-D-Galactosamine:Polypeptide N-Acetylgalactosaminyltransferase 1 (GalNAc-T1) 2 3
- UDP-GalNAc:Polypeptide N-Acetylgalactosaminyltransferase 1 3 4
External Ids for GALNT1 Gene
Previous GeneCards Identifiers for GALNT1 Gene
This gene encodes a member of the UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase (GalNAc-T) family of enzymes. GalNAc-Ts initiate mucin-type O-linked glycosylation in the Golgi apparatus by catalyzing the transfer of GalNAc to serine and threonine residues on target proteins. They are characterized by 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. GalNAc-Ts have different, but overlapping, substrate specificities and patterns of expression. Transcript variants derived from this gene that utilize alternative polyA signals have been described in the literature. [provided by RefSeq, Jul 2008]
GeneCards Summary for GALNT1 Gene
GALNT1 (Polypeptide N-Acetylgalactosaminyltransferase 1) is a Protein Coding gene. Diseases associated with GALNT1 include Kleefstra Syndrome 1. Among its related pathways are Mucin type O-glycan biosynthesis and Metabolism of proteins. Gene Ontology (GO) annotations related to this gene include carbohydrate binding and polypeptide N-acetylgalactosaminyltransferase activity. An important paralog of this gene is GALNT13.
UniProtKB/Swiss-Prot Summary for GALNT1 Gene
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. Has a broad spectrum of substrates for peptides such as EA2, Muc5AC, Muc1a, Muc1b and Muc7.