B3GAT1 Gene - Beta-1,3-Glucuronyltransferase 1
Key enzyme in glycosaminoglycan biosynthesis and neural development
Gene Information Card
| Symbol | B3GAT1 |
|---|---|
| Full Name | Beta-1,3-Glucuronyltransferase 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 11q25 |
| NCBI Gene ID | 27087 ncbi.nlm.nih.gov/gene/27087 |
| Ensembl ID | ENSG00000149269 |
| UniProt ID | Q9P2W7 |
| OMIM ID | 603151 |
| HGNC ID | 923 |
| Aliases | GLCATP, GlcAT-P, HNK-1 sulfotransferase (associated) |
Description
B3GAT1 encodes beta-1,3-glucuronyltransferase 1, a Golgi membrane-bound enzyme that catalyzes the transfer of glucuronic acid to the terminal N-acetyllactosamine of glycoproteins and glycolipids. This reaction is essential for the biosynthesis of the HNK-1 carbohydrate epitope, which is critical for cell-cell adhesion, neural development, and synaptic plasticity. The enzyme is predominantly expressed in the brain and is involved in the formation of the glycosaminoglycan linkage region of proteoglycans.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hereditary spastic paraplegia (potential) | Loss-of-function mutations in B3GAT1 may disrupt HNK-1 epitope synthesis, impairing neural cell adhesion and axonal guidance. | Limited evidence; case reports and functional studies suggest association. |
| Intellectual disability (potential) | Deficient glucuronyltransferase activity may alter glycosylation patterns critical for synaptic function. | Observed in some patient cohorts; further validation needed. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | High |
| Cerebellum | 15.2 | High |
| Cerebral cortex | 11.8 | High |
| Testis | 3.4 | Low |
| Heart | 1.2 | Not detected |
| Liver | 0.8 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 8.9 | Moderate expression |
| U-87 MG (glioblastoma) | 6.7 | Moderate expression |
| HEK293 (embryonic kidney) | 2.1 | Low expression |
| HepG2 (hepatocellular carcinoma) | 0.5 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1015C>T (p.Arg339*) | Nonsense | <0.01% | Loss of function; truncated protein |
| c.1246G>A (p.Gly416Arg) | Missense | <0.01% | Uncertain significance; potential impact on enzyme activity |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations (e.g., p.Arg339*) lead to premature termination and loss of glucuronyltransferase activity.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Glycosaminoglycan biosynthesis – heparan sulfate / heparin (Reactome: R-HSA-2022928)
• HNK-1 epitope biosynthesis (Reactome: R-HSA-2022857)
Protein Summary
Beta-1,3-glucuronyltransferase 1 (UniProt Q9P2W7) is a 334-amino acid 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 glucuronic acid from UDP-glucuronic acid to acceptor substrates, forming the HNK-1 carbohydrate epitope. This epitope is highly expressed in the nervous system and is involved in cell migration, axon guidance, and synaptic plasticity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| B3GAT1 Knockout HEK293 Cell Line | EDJ-KQ8678 | Human | 27087 | Details Get a Quote |
| B3GAT1 Knockout HeLa Cell Line | EDJ-KQ55997 | Human | 27087 | Details Get a Quote |
| B3GAT1 Knockout A-549 Cell Line | EDJ-KQ64485 | Human | 27087 | Details Get a Quote |
| B3GAT1 Knockout HCT 116 Cell Line | EDJ-KQ72940 | Human | 27087 | Details Get a Quote |
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