B3GALT1: Beta-1,3-Galactosyltransferase 1
A key enzyme in glycosphingolipid biosynthesis, involved in cell adhesion and signaling.
Gene Information Card
| Symbol | B3GALT1 |
|---|---|
| Full Name | Beta-1,3-Galactosyltransferase 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 2q24.3 |
| NCBI Gene ID | 8708 ncbi.nlm.nih.gov/gene/8708 |
| Ensembl ID | ENSG00000115977 |
| UniProt ID | Q9Y5Z6 |
| OMIM ID | 603095 |
| HGNC ID | 918 |
| Aliases | B3Gal-T1, beta3Gal-T1, GalT-4 |
Description
B3GALT1 encodes a member of the beta-1,3-galactosyltransferase family. This enzyme catalyzes the transfer of galactose from UDP-galactose to N-acetylglucosamine (GlcNAc) or N-acetylgalactosamine (GalNAc) residues, forming a beta-1,3 linkage. It is involved in the biosynthesis of type 1 carbohydrate chains, including Lewis antigens and glycosphingolipids, which are critical for cell-cell interactions, immune recognition, and development.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Colorectal cancer | Altered glycosylation of cell surface glycoproteins and glycolipids may promote tumor progression and metastasis. | PubMed studies show altered B3GALT1 expression in colorectal tumors (PMID: 15616553). |
| Gastric cancer | Upregulation of B3GALT1 contributes to aberrant glycosylation associated with H. pylori infection and cancer risk. | Expression changes reported in gastric cancer tissues (PMID: 19787242). |
| Congenital disorders of glycosylation (CDG) | Defects in beta-1,3-galactosyltransferase activity can disrupt glycoprotein synthesis, leading to multisystem disorders. | Rare variants in B3GALT1 have been associated with CDG-like phenotypes (ClinVar). |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Colon | 12.5 | Medium |
| Stomach | 10.2 | Medium |
| Small intestine | 9.8 | Medium |
| Pancreas | 7.3 | Low |
| Liver | 5.1 | Low |
| Kidney | 4.6 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa (cervical cancer) | 8.4 | Moderate expression |
| HCT116 (colorectal carcinoma) | 15.2 | High expression |
| MCF7 (breast cancer) | 6.1 | Low expression |
| A549 (lung carcinoma) | 5.3 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | <0.01% | Likely loss of start codon, predicted loss of function |
| c.632C>T (p.Thr211Ile) | Missense | <0.01% | Unknown significance, rare population variant |
| c.1045G>A (p.Gly349Ser) | Missense | <0.01% | Reported in ClinVar as uncertain significance |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations in B3GALT1 are predicted to reduce galactosyltransferase activity, potentially impairing glycosphingolipid synthesis.
Gain of Function (GOF)
No gain-of-function mutations have been reported for B3GALT1.
Dominant Negative (DN)
No dominant-negative mutations have been described for B3GALT1.
View complete mutation data：
Gene Ontology (GO)
| • Galactosyltransferase activity (GO:0008378) | • 3-galactosyltransferase activity (GO:0008499) |
| • Golgi membrane (GO:0000139) | • Protein glycosylation (GO:0006486) |
| • Glycosphingolipid biosynthetic process (GO:0006688) |
Pathways
• Glycosphingolipid biosynthesis - lacto and neolacto series (KEGG: hsa00601)
• Metabolism of carbohydrates (Reactome: R-HSA-71387)
Protein Summary
B3GALT1 is a type II transmembrane protein localized to the Golgi apparatus. It contains a short N-terminal cytoplasmic domain, a transmembrane domain, and a large C-terminal catalytic domain facing the Golgi lumen. The enzyme transfers galactose in a beta-1,3 linkage to acceptor sugars, playing a key role in the elongation of carbohydrate chains on glycoproteins and glycolipids. Its activity is essential for the synthesis of Lewis a (Lea) and sialyl-Lewis a (CA19-9) antigens, which are important in cell adhesion and tumor biology.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| B3GALT1 Knockout HEK293 Cell Line | EDJ-KQ6332 | Human | 8708 | Details Get a Quote |
| B3GALT1 Knockout HeLa Cell Line | EDJ-KQ54987 | Human | 8708 | Details Get a Quote |
| B3GALT1 Knockout A-549 Cell Line | EDJ-KQ63470 | Human | 8708 | Details Get a Quote |
| B3GALT1 Knockout HCT 116 Cell Line | EDJ-KQ71936 | Human | 8708 | Details Get a Quote |
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