B4GALT4 Gene - Beta-1,4-Galactosyltransferase 4
Key enzyme in glycoprotein and glycolipid biosynthesis, involved in cell adhesion and signaling.
Gene Information Card
| Symbol | B4GALT4 |
|---|---|
| Full Name | Beta-1,4-Galactosyltransferase 4 |
| Gene Type | Protein coding |
| Chromosomal Location | 3q13.32 |
| NCBI Gene ID | 8702 ncbi.nlm.nih.gov/gene/8702 |
| Ensembl ID | ENSG00000121594 |
| UniProt ID | O60513 |
| OMIM ID | 604015 |
| HGNC ID | HGNC:927 |
| Aliases | B4Gal-T4, beta4Gal-T4, GalT4 |
Description
B4GALT4 encodes a member of the beta-1,4-galactosyltransferase family. This enzyme catalyzes the transfer of galactose from UDP-galactose to N-acetylglucosamine (GlcNAc) residues on glycoproteins and glycolipids, forming the type 2 chain (Galβ1-4GlcNAc). It plays a critical role in the biosynthesis of complex N-glycans and lactosamine repeats, influencing cell adhesion, migration, and signaling.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Congenital disorder of glycosylation type IId (CDG-IId) | Deficient B4GALT4 activity leads to incomplete N-glycan synthesis, causing multisystem developmental abnormalities. | OMIM #607091; multiple case reports |
| Colorectal cancer | Altered B4GALT4 expression affects tumor cell glycosylation, promoting invasion and metastasis. | COSMIC; PMID: 23455423 |
| Breast cancer | Upregulation of B4GALT4 correlates with poor prognosis and increased metastatic potential. | COSMIC; PMID: 25691885 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Colon | 8.3 | Low |
| Breast | 6.1 | Low |
| Liver | 4.2 | Low |
| Lung | 7.8 | Low |
| Kidney | 5.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.2 | Embryonic kidney; high expression |
| HeLa | 9.4 | Cervical cancer; moderate expression |
| MCF7 | 7.1 | Breast cancer; low expression |
| HCT116 | 11.3 | Colorectal cancer; moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.103C>T (p.Arg35Cys) | Missense | <0.01% | Reduced enzyme activity; associated with CDG-IId |
| c.487G>A (p.Gly163Arg) | Missense | <0.01% | Loss of function; reported in CDG-IId |
| c.758T>C (p.Leu253Pro) | Missense | <0.01% | Impaired protein folding; pathogenic in CDG-IId |
Mutation functional classification
Loss of Function (LOF)
Missense mutations (e.g., p.Arg35Cys, p.Gly163Arg) reduce or abolish galactosyltransferase activity, leading to CDG-IId.
Gain of Function (GOF)
No gain-of-function mutations reported in B4GALT4.
Dominant Negative (DN)
No dominant-negative mutations described for B4GALT4.
View complete mutation data：
Gene Ontology (GO)
| • galactosyltransferase activity (GO:0008378) | • protein glycosylation (GO:0006486) |
| • Golgi apparatus (GO:0005794) | • membrane (GO:0016020) |
| • Golgi membrane (GO:0000139) |
Pathways
• Glycosphingolipid biosynthesis - lactoseries (KEGG: hsa00601)
• N-Glycan biosynthesis (KEGG: hsa00510)
• Metabolism of proteins (Reactome: R-HSA-392499)
Protein Summary
B4GALT4 is a type II transmembrane protein localized to the Golgi apparatus. It contains a short N-terminal cytoplasmic tail, a transmembrane domain, and a large luminal catalytic domain. The enzyme transfers galactose to GlcNAc in a β1-4 linkage, essential for the synthesis of poly-N-acetyllactosamine chains. These chains are critical for cell surface receptor function, including integrins and cadherins, impacting cell adhesion and migration.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| B4GALT4 Knockout HEK293 Cell Line | EDJ-KQ6334 | Human | 8702 | Details Get a Quote |
| B4GALT4 Knockout A-549 Cell Line | EDJ-KQ30271 | Human | 8702 | Details Get a Quote |
| B4GALT4 Knockout HCT 116 Cell Line | EDJ-KQ30272 | Human | 8702 | Details Get a Quote |
| B4GALT4 Knockout HeLa Cell Line | EDJ-KQ30273 | Human | 8702 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
