B3GALT5 Gene - Beta-1,3-Galactosyltransferase 5
Key enzyme in glycosphingolipid biosynthesis and cancer-associated glycan expression
Gene Information Card
| Symbol | B3GALT5 |
|---|---|
| Full Name | Beta-1,3-Galactosyltransferase 5 |
| Gene Type | Protein coding |
| Chromosomal Location | 21q22.2 |
| NCBI Gene ID | 10317 ncbi.nlm.nih.gov/gene/10317 |
| Ensembl ID | ENSG00000183778 |
| UniProt ID | Q9Y2J8 |
| OMIM ID | 604051 |
| HGNC ID | 919 |
| Aliases | B3GalT5, beta3Gal-T5, Lc3 synthase, GalT5 |
Description
B3GALT5 encodes beta-1,3-galactosyltransferase 5, a type II transmembrane protein localized to the Golgi apparatus. It catalyzes the transfer of galactose from UDP-galactose to N-acetylglucosamine residues, forming type 1 lacto-series glycosphingolipids (Lc3). This enzyme is critical for the biosynthesis of Lewis antigens and other cancer-associated glycans. Expression is elevated in gastrointestinal and pancreatic cancers, where it contributes to tumor progression and immune evasion.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Pancreatic cancer | Upregulation of B3GALT5 increases Lewis antigen expression, promoting tumor cell adhesion and metastasis | PMID: 25605274 |
| Colorectal cancer | Altered glycosphingolipid profiles due to B3GALT5 overexpression enhance cell proliferation and invasion | PMID: 29127120 |
| Gastric cancer | B3GALT5-mediated glycan changes correlate with poor prognosis and increased metastatic potential | PMID: 30356128 |
| Congenital disorder of glycosylation (CDG) | Rare loss-of-function variants may disrupt glycosphingolipid biosynthesis, though clinical significance is not fully established | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Colon | 12.5 | Medium |
| Pancreas | 8.3 | Medium |
| Stomach | 6.7 | Low |
| Small intestine | 5.9 | Low |
| Liver | 2.1 | Low |
| Breast | 1.8 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Caco-2 (colon adenocarcinoma) | 15.2 | High expression |
| PANC-1 (pancreatic carcinoma) | 11.4 | High expression |
| MCF7 (breast adenocarcinoma) | 2.3 | Low expression |
| HEK293 (embryonic kidney) | 1.1 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.832G>A (p.Gly278Arg) | Missense | <0.01% | Unknown; predicted damaging by SIFT |
| c.1045C>T (p.Arg349Trp) | Missense | <0.01% | Unknown; predicted tolerated |
| c.1234_1235insA | Frameshift | <0.01% | Loss of function; associated with CDG in ClinVar |
Mutation functional classification
Loss of Function (LOF)
Frameshift insertions (e.g., c.1234_1235insA) lead to premature truncation and loss of enzymatic activity, potentially causing congenital glycosylation disorders.
Gain of Function (GOF)
Not reported in literature or curated databases.
Dominant Negative (DN)
Not reported in literature or curated databases.
View complete mutation data：
Gene Ontology (GO)
| • galactosyltransferase activity (GO:0008378) | • Golgi apparatus (GO:0005794) |
| • integral component of membrane (GO:0016021) | • protein glycosylation (GO:0006486) |
| • glycosphingolipid biosynthetic process (GO:0006688) | • Golgi membrane (GO:0000139) |
Pathways
• Lacto-series glycosphingolipid biosynthesis (Reactome: R-HSA-1660661)
• Glycosphingolipid metabolism (KEGG: hsa00603)
• Blood group glycolipid biosynthesis (Reactome: R-HSA-9033807)
Protein Summary
Beta-1,3-galactosyltransferase 5 (UniProt Q9Y2J8) is a 374-amino-acid type II transmembrane glycoprotein with a short N-terminal cytoplasmic tail, a transmembrane domain, and a large C-terminal catalytic domain facing the Golgi lumen. It specifically transfers galactose in a beta-1,3 linkage to GlcNAc on lactotriaosylceramide (Lc3). The enzyme is essential for the synthesis of type 1 chain glycans, including Lewis a and Lewis b antigens, which are overexpressed in many epithelial cancers. Structural studies indicate a conserved DxD motif required for UDP-galactose binding.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| B3GALT5 Knockout HEK293 Cell Line | EDJ-KQ7004 | Human | 10317 | Details Get a Quote |
| B3GALT5 Knockout HCT 116 Cell Line | EDJ-KQ31740 | Human | 10317 | Details Get a Quote |
| B3GALT5 Knockout HeLa Cell Line | EDJ-KQ55375 | Human | 10317 | Details Get a Quote |
| B3GALT5 Knockout A-549 Cell Line | EDJ-KQ63857 | Human | 10317 | Details Get a Quote |
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