B3GALNT1 beta-1,3-N-acetylgalactosaminyltransferase 1 (Globoside blood group)
Gene ID: 8706, updated on 5-Mar-2024Gene type: protein coding
Also known as: P1; GLOB; GLCT3; galT3; Gb4Cer; B3GALT3; B3GALANT1; beta3Gal-T3
- See all available tests in GTR for this gene
- Go to complete Gene record for B3GALNT1
- Go to Variation Viewer for B3GALNT1 variants
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]
Associated conditions
See all available tests in GTR for this gene
Description | Tests |
---|---|
Blood group, globoside system | not available |
Blood group, P1PK system | not available |
Genome-wide association study of age at menarche in African-American women. GeneReviews: Not available |
Genomic context
- Location:
- 3q26.1
- Sequence:
- Chromosome: 3; NC_000003.12 (161083883..161105349, complement)
- Total number of exons:
- 10
Variation
Resource | Links for this gene |
---|---|
ClinVar | Variants reported to ClinVar |
dbVar | Studies and variants |
SNP | GeneView ReportGo to Variation Viewer for B3GALNT1 variants |
1000 Genomes | See 1000 Genomes Browser (GRCh37.p13) |
- B3GALNT1 database
- BioSystemsBioSystems
- Blood Group Antigen Gene Mutation Database (BGMUT)
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- SNP: GeneViewSNPs linked from GeneView
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