Please enable JavaScript
IKMB: Blood Group DB

028 GLOB

The GLOB system was acknowledged in 2002 when the P or globoside antigen was moved from the 209 collection. The P antigen is the most common neutral glycosphingolipid in the red cell membrane, belongs to the globoseries and has the following structure: GalNAcß3Gala4Galß4Glcß1 ceramide, also known as globoside (Gb4Cer). The B3GALT3 gene was first reported in 1998 by Amado et al. to be a member of the ß1,3-galactosyltransferase gene family and its product given the name ß3Gal-T3. It was later shown by Okajima et al. to possess UDP-N-acetyl galactosamine:globotriaosylceramide 3-ß-N-acetylgalactosaminyl-transferase or globoside synthase activity and the gene name changed to B3GALNT1 and its product renamed ß3GalNAc-T1. This enzyme is responsible for the final step in the synthesis of the P antigen, the transfer of GalNAc to the terminal Gal of the Pk antigen. The final proof of this was the identification by Hellberg et al. of critical mutations in the B3GALNT1 gene as the genetic basis of P1k and P2k, the rare globoside-deficient null phenotypes of the GLOB system.

Antigens
[1] P
[2] ...
[3] ...
[4] PX2
Reference Info
Gene: B3GALNT1
Allele: GLOB*01
Seq: NG_007854.1 (genomic), NM_033169.2 (transcript), NP_001033717.1 NP_003772.1 NP_149357.1 NP_149358.1 NP_149359.1 XP_005247916.1 (protein)
Entrez GeneID: 8706
Uniprot ID: O75752
Number of exons: 5 (hg19), 5 (hg38)
Quick Filter:
Category Filter:
reference alleles