B3GALT4 Gene - Beta-1,3-Galactosyltransferase 4
Key enzyme in glycosphingolipid biosynthesis and cancer-associated glycosylation
Gene Information Card
| Symbol | B3GALT4 |
|---|---|
| Full Name | Beta-1,3-Galactosyltransferase 4 |
| Gene Type | Protein coding |
| Chromosomal Location | 6p21.32 |
| NCBI Gene ID | 8708 ncbi.nlm.nih.gov/gene/8708 |
| Ensembl ID | ENSG00000124784 |
| UniProt ID | O96024 |
| OMIM ID | 603095 |
| HGNC ID | 919 |
| Aliases | B3Gal-T4, beta3Gal-T4, GalT4 |
Description
B3GALT4 encodes a type II membrane protein belonging to the beta-1,3-galactosyltransferase family. This enzyme catalyzes the transfer of galactose from UDP-galactose to N-acetylglucosamine or N-acetylgalactosamine residues in glycoproteins and glycolipids, playing a critical role in the biosynthesis of glycosphingolipids, particularly gangliosides and globosides. The gene is located in the MHC class III region on chromosome 6p21.32.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Colorectal cancer | Altered glycosylation of cell surface glycoproteins and glycolipids affecting cell adhesion and signaling | PubMed: 23431193 |
| Gastric cancer | Upregulation of B3GALT4 associated with aberrant glycosylation and tumor progression | PubMed: 25670082 |
| Hepatocellular carcinoma | Dysregulated expression linked to changes in glycosphingolipid metabolism | PubMed: 27562872 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Colon | 12.5 | Medium |
| Stomach | 9.8 | Medium |
| Liver | 7.3 | Low |
| Kidney | 6.1 | Low |
| Brain | 4.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 15.3 | Cervical cancer cell line |
| HCT116 | 18.7 | Colorectal carcinoma cell line |
| MCF7 | 8.9 | Breast cancer cell line |
| HepG2 | 11.2 | Hepatocellular carcinoma cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.487C>T (p.Arg163Trp) | Missense | <0.01% | Unknown functional effect; reported in COSMIC |
| c.632G>A (p.Arg211Gln) | Missense | <0.01% | Unknown functional effect; reported in COSMIC |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in ClinVar or COSMIC for B3GALT4.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations described.
View complete mutation data：
Gene Ontology (GO)
| • galactosyltransferase activity (GO:0008378) | • Golgi apparatus (GO:0005794) |
| • protein glycosylation (GO:0006486) | • glycosphingolipid biosynthetic process (GO:0006688) |
| • integral component of membrane (GO:0016021) |
Pathways
• Glycosphingolipid biosynthesis - lacto and neolacto series (KEGG: hsa00601)
• Glycosphingolipid biosynthesis - globo series (KEGG: hsa00603)
• Metabolism of carbohydrates (Reactome: R-HSA-71387)
Protein Summary
B3GALT4 is a 37.5 kDa 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 beta-1,3 linkage to acceptor substrates, contributing to the synthesis of lactotriaosylceramide and globotriaosylceramide, precursors for complex gangliosides and globosides. Its expression is elevated in several cancers, where altered glycosylation influences tumor cell behavior.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| B3GALT4 Knockout HEK293 Cell Line | EDJ-KQ50818 | Human | 8705 | Details Get a Quote |
| B3GALT4 Knockout HeLa Cell Line | EDJ-KQ54985 | Human | 8705 | Details Get a Quote |
| B3GALT4 Knockout A-549 Cell Line | EDJ-KQ63467 | Human | 8705 | Details Get a Quote |
| B3GALT4 Knockout HCT 116 Cell Line | EDJ-KQ71934 | Human | 8705 | Details Get a Quote |
