GCNT1
Description
The GCNT1 (glucosaminyl (N-acetyl) transferase 1) is a protein-coding gene located on chromosome 9.
GCNT1 is a human gene that encodes the enzyme beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase. This gene is part of the beta-1,6-N-acetylglucosaminyltransferase gene family and is essential for the formation of Gal beta 1-3(GlcNAc beta 1-6)GalNAc structures and the core 2 O-glycan branch. Originally mapped to 9q21, GCNT1 was later localized to 9q13. Multiple alternatively spliced variants, encoding the same protein, have been identified.
GCNT1 catalyzes the transfer of an N-acetylglucosamine (GlcNAc) moiety from UDP-GlcNAc to mucin-type core 1 O-glycan, forming the branched core 2 O-glycan. This process is metal ion-independent and involves inversion of the sugar donor's anomeric configuration. GCNT1 plays a crucial role in the synthesis of core 2 O-glycans, which act as scaffolds for the display of selectin ligand sialyl Lewis X epitope by myeloid cells. This impacts homeostasis and recruitment to inflammatory sites. GCNT1 also functions on glycolipid substrates, transferring GlcNAc to GalGb4Cer globosides during the synthesis of stage-specific embryonic antigen 1 (SSEA-1). GCNT1 can utilize Galbeta1-3GalNAcalpha1- and Galbeta1-3GalNAcbeta1- oligosaccharide derivatives as acceptor substrates. It interacts with GOLPH3 and may control its own retention in the Golgi.
GCNT1 is also known as C2GNT, C2GNT-L, C2GNT1, C2GlcNAcT, G6NT, NACGT2, NAGCT2.
Associated Diseases
- immunodeficiency 53
- neutrophil immunodeficiency syndrome
- severe combined immunodeficiency due to IKK2 deficiency
- X-linked severe congenital neutropenia
- combined immunodeficiency due to moesin deficiency
