B4GALT5: Beta-1,4-Galactosyltransferase 5
A key enzyme in glycosylation, implicated in cancer and developmental processes.
Gene Information Card
| Symbol | B4GALT5 |
|---|---|
| Full Name | Beta-1,4-Galactosyltransferase 5 |
| Gene Type | Protein coding |
| Chromosomal Location | 20q13.13 |
| NCBI Gene ID | 9334 ncbi.nlm.nih.gov/gene/9334 |
| Ensembl ID | ENSG00000101204 |
| UniProt ID | O15295 |
| OMIM ID | 604171 |
| HGNC ID | 928 |
| Aliases | B4Gal-T5, beta4Gal-T5, GalT5 |
Description
B4GALT5 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 lactosamine structure. It is involved in the biosynthesis of complex N-glycans and is expressed in various tissues, with notable roles in cell adhesion, signaling, and cancer progression.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Colorectal Cancer | Altered glycosylation by B4GALT5 affects cell adhesion and metastasis; overexpression associated with poor prognosis. | PMID: 25944712 |
| Breast Cancer | Upregulation of B4GALT5 promotes tumor growth and invasion via modulation of integrin signaling. | PMID: 28431248 |
| Hepatocellular Carcinoma | B4GALT5 expression correlates with tumor stage and metastasis; involved in aberrant glycosylation. | PMID: 27469509 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Colon | 12.5 | Medium |
| Breast | 8.3 | Medium |
| Liver | 6.1 | Low |
| Pancreas | 4.7 | Low |
| Kidney | 3.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 15.2 | Cervical cancer cell line |
| MCF7 | 10.8 | Breast cancer cell line |
| HCT116 | 14.1 | Colorectal cancer cell line |
| HepG2 | 7.5 | Hepatocellular carcinoma cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1045G>A (p.Gly349Arg) | Missense | <0.01% | Unknown functional impact; rare variant in population databases. |
| c.1234C>T (p.Arg412Trp) | Missense | <0.01% | Predicted damaging by in silico tools; no clinical association reported. |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in B4GALT5.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • galactosyltransferase activity (GO:0008378) | • protein glycosylation (GO:0006486) |
| • Golgi apparatus (GO:0005794) | • integral component of membrane (GO:0016021) |
Pathways
• Glycosphingolipid biosynthesis - lactoseries (KEGG: hsa00601)
• N-Glycan biosynthesis (KEGG: hsa00510)
Protein Summary
B4GALT5 is a type II transmembrane protein localized to the Golgi apparatus. It functions as a beta-1,4-galactosyltransferase, adding galactose to N-acetylglucosamine in a beta-1,4 linkage. The enzyme is essential for the synthesis of poly-N-acetyllactosamine chains on N- and O-glycans, which are critical for cell-cell recognition, adhesion, and signaling. Its expression is dysregulated in several cancers, contributing to malignant phenotypes.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| B4GALT5 Knockout HEK293 Cell Line | EDJ-KQ6551 | Human | 9334 | Details Get a Quote |
| B4GALT5 Knockout HeLa Cell Line | EDJ-KQ29396 | Human | 9334 | Details Get a Quote |
| B4GALT5 Knockout A-549 Cell Line | EDJ-KQ30745 | Human | 9334 | Details Get a Quote |
| B4GALT5 Knockout HCT 116 Cell Line | EDJ-KQ30746 | Human | 9334 | Details Get a Quote |
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