B3GALNT1
beta-1,3-N-acetylgalactosaminyltransferase 1 (Globoside blood group)
Summary
This gene is a member of the beta-1,3-galactosyltransferase (beta3GalT) gene family. This family encodes type II membrane-bound glycoproteins with diverse enzymatic functions using different donor substrates (UDP-galactose and UDP-N-acetylglucosamine) and different acceptor sugars (N-acetylglucosamine, galactose, N-acetylgalactosamine). The beta3GalT genes are distantly related to the Drosophila Brainiac gene and have the protein coding sequence contained in a single exon. The beta3GalT proteins also contain conserved sequences not found in the beta4GalT or alpha3GalT proteins. The carbohydrate chains synthesized by these enzymes are designated as type 1, whereas beta4GalT enzymes synthesize type 2 carbohydrate chains. The ratio of type 1:type 2 chains changes during embryogenesis. By sequence similarity, the beta3GalT genes fall into at least two groups: beta3GalT4 and 4 other beta3GalT genes (beta3GalT1-3, beta3GalT5). The encoded protein of this gene does not use N-acetylglucosamine as an acceptor sugar at all. [provided by RefSeq, Mar 2017]
Known Variants21 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs104893683 | 3:160,803,732 | C/T | missense variant | affects |
| rs28937582 | 3:160,803,746 | T/G | missense variant | affects |
| rs183787251 | 3:160,803,771 | C/G | — | uncertain significance |
| rs2473566912 | 3:160,803,777 | T/C | — | uncertain significance |
| rs373047378 | 3:160,803,841 | G/C | — | uncertain significance |
| rs1559963709 | 3:160,803,878 | G/T | — | uncertain significance |
| rs2473577490 | 3:160,803,972 | C/T | — | uncertain significance |
| rs760609416 | 3:160,804,044 | T/C | — | uncertain significance |
| rs201492755 | 3:160,804,127 | A/C | — | uncertain significance |
| rs766473939 | 3:160,804,320 | G/A | — | uncertain significance |
| rs200235398 | 3:160,804,341 | G/A | — | affects |
| rs776083375 | 3:160,804,346 | G/A | — | uncertain significance |
| rs767350162 | 3:160,804,481 | C/A | — | uncertain significance |
| rs2231256 | 3:160,804,569 | C/T | — | benign |
| rs35965503 | 3:160,807,835 | C/A | — | likely benign |
| rs34184112 | 3:160,807,847 | A/T | — | benign |
| rs34798602 | 3:160,819,001 | G/A | — | likely benign |
| rs4557202 | 3:160,820,524 | G/T | — | — |
| rs774378292 | 3:160,821,291 | A/C | — | likely benign |
| rs7617204 | 3:160,821,969 | A/T | — | — |
| rs190148089 | 3:160,822,123 | A/C | — | likely benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.