B4GALT3: Beta-1,4-Galactosyltransferase 3
Key enzyme in glycoprotein and glycolipid biosynthesis, implicated in cancer and developmental processes
Gene Information Card
| Symbol | B4GALT3 |
|---|---|
| Full Name | Beta-1,4-Galactosyltransferase 3 |
| Gene Type | Protein coding |
| Chromosomal Location | 1q23.3 |
| NCBI Gene ID | 8703 ncbi.nlm.nih.gov/gene/8703 |
| Ensembl ID | ENSG00000117650 |
| UniProt ID | O60512 |
| OMIM ID | 604014 |
| HGNC ID | 928 |
| Aliases | beta4Gal-T3, B4Gal-T3, GalT3 |
Description
B4GALT3 encodes a member of the beta-1,4-galactosyltransferase family, which catalyzes the transfer of galactose from UDP-galactose to N-acetylglucosamine (GlcNAc) residues on glycoproteins and glycolipids. This enzyme is involved in the biosynthesis of complex N-glycans and is expressed in multiple tissues. B4GALT3 has been implicated in cell adhesion, migration, and tumor progression, with altered expression observed in various cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Colorectal Cancer | Altered glycosylation affecting cell adhesion and metastasis; B4GALT3 overexpression correlates with poor prognosis | PMID: 25605274 |
| Breast Cancer | Upregulation of B4GALT3 promotes tumor growth and invasion via modulation of integrin signaling | PMID: 27323851 |
| Gastric Cancer | Reduced B4GALT3 expression associated with lymph node metastasis and shorter survival | PMID: 28407147 |
| Hepatocellular Carcinoma | B4GALT3 downregulation linked to increased migration and invasion through altered N-glycosylation | PMID: 29511382 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Colon | 15.3 | Medium |
| Breast | 8.7 | Low |
| Liver | 6.2 | Low |
| Lung | 10.1 | Medium |
| Stomach | 9.4 | Medium |
| Kidney | 7.8 | Low |
| Ovary | 11.2 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 14.5 | Cervical cancer cell line; moderate expression |
| MCF7 | 9.8 | Breast cancer cell line; low expression |
| HepG2 | 7.3 | Hepatocellular carcinoma; low expression |
| A549 | 12.1 | Lung cancer cell line; moderate expression |
| HT-29 | 16.2 | Colorectal adenocarcinoma; high 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.200C>T (p.Thr67Ile) | Missense | <0.01% | Unknown significance; rare variant |
| c.500G>A (p.Arg167Gln) | Missense | <0.01% | Unknown significance; reported in COSMIC |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in ClinVar or COSMIC for B4GALT3.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No evidence of dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • galactosyltransferase activity (GO:0008378) | • protein glycosylation (GO:0006486) |
| • glycosyltransferase activity (GO:0016757) | • Golgi apparatus (GO:0005794) |
| • Golgi membrane (GO:0000139) |
Pathways
• Glycosphingolipid biosynthesis - lacto and neolacto series (KEGG: hsa00601)
• N-Glycan biosynthesis (KEGG: hsa00510)
• Protein glycosylation (Reactome: R-HSA-975578)
Protein Summary
B4GALT3 is a type II transmembrane protein localized to the Golgi apparatus. It catalyzes the addition of galactose in beta-1,4 linkage to GlcNAc on glycoproteins and glycolipids. The protein is 393 amino acids long with a molecular weight of approximately 44 kDa. It plays a role in the synthesis of poly-N-acetyllactosamine chains and is involved in cell-cell recognition, adhesion, and signaling. Structural studies indicate a conserved catalytic domain typical of glycosyltransferases.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| B4GALT3 Knockout HEK293 Cell Line | EDJ-KQ6329 | Human | 8703 | Details Get a Quote |
| B4GALT3 Knockout A-549 Cell Line | EDJ-KQ30265 | Human | 8703 | Details Get a Quote |
| B4GALT3 Knockout HCT 116 Cell Line | EDJ-KQ30266 | Human | 8703 | Details Get a Quote |
| B4GALT3 Knockout HeLa Cell Line | EDJ-KQ30267 | Human | 8703 | Details Get a Quote |
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