B3GLCT
Beta-1,3-Glucosyltransferase
Gene Information Card
| Symbol | B3GLCT |
|---|---|
| Full Name | Beta-1,3-Glucosyltransferase |
| Gene Type | Protein coding |
| Chromosomal Location | 13q12.3 |
| NCBI Gene ID | 145173 ncbi.nlm.nih.gov/gene/145173 |
| Ensembl ID | ENSG00000187678 |
| UniProt ID | Q6Y288 |
| OMIM ID | 610308 |
| HGNC ID | 20207 |
| Aliases | B3GALTL, B3Glc-T, B3GlcT, FLJ21865 |
Description
The B3GLCT gene encodes beta-1,3-glucosyltransferase, an enzyme that transfers glucose to O-linked fucose on thrombospondin type 1 repeats (TSRs) of proteins. This glycosylation is critical for proper protein folding and secretion. Mutations in B3GLCT cause Peters plus syndrome, an autosomal recessive disorder characterized by anterior eye chamber defects, short stature, and developmental delay.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Peters plus syndrome | Loss-of-function mutations in B3GLCT disrupt O-glucosylation of TSR-containing proteins, leading to impaired extracellular matrix and developmental defects. | ClinVar, OMIM #261540 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Adipose tissue | 2.1 | Low |
| Brain | 1.5 | Low |
| Heart | 1.8 | Low |
| Kidney | 3.2 | Medium |
| Liver | 2.5 | Low |
| Lung | 2.0 | Low |
| Muscle | 1.2 | Low |
| Pancreas | 1.0 | Low |
| Placenta | 4.5 | Medium |
| Skin | 3.0 | Medium |
| Small intestine | 2.8 | Low |
| Spleen | 1.6 | Low |
| Testis | 5.1 | Medium |
| Thyroid | 2.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 4.8 | Moderate expression |
| HeLa | 3.5 | Moderate expression |
| K562 | 2.0 | Low expression |
| MCF7 | 1.5 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.660+1G>A | Splice donor | Pathogenic | Loss of enzyme function |
| c.907C>T (p.Arg303*) | Nonsense | Pathogenic | Premature truncation |
| c.1021C>T (p.Arg341Trp) | Missense | Pathogenic | Impaired catalytic activity |
| c.1267C>T (p.Arg423*) | Nonsense | Pathogenic | Premature truncation |
Mutation functional classification
Loss of Function (LOF)
Most reported B3GLCT mutations are loss-of-function (nonsense, frameshift, splice-site), leading to absent or non-functional enzyme and Peters plus syndrome.
Gain of Function (GOF)
No gain-of-function mutations have been reported for B3GLCT.
Dominant Negative (DN)
No dominant-negative mutations have been described for B3GLCT.
View complete mutation data：
Gene Ontology (GO)
| • glucosyltransferase activity | • transferase activity |
| • transferring hexosyl groups | • protein O-linked glycosylation |
| • endoplasmic reticulum lumen | • manganese ion binding |
Pathways
• O-glycosylation of TSR domain-containing proteins
• Glycosaminoglycan biosynthesis
Protein Summary
Beta-1,3-glucosyltransferase (B3GLCT) is a 496-amino acid type II transmembrane protein localized to the endoplasmic reticulum. It catalyzes the addition of glucose to O-linked fucose on thrombospondin type 1 repeats (TSRs), a modification essential for proper folding, secretion, and function of TSR-containing proteins such as thrombospondin-1 and ADAMTS family members. Loss of B3GLCT activity leads to accumulation of misfolded proteins and causes Peters plus syndrome.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| B3GLCT Knockout HEK293 Cell Line | EDJ-KQ10430 | Human | 145173 | Details Get a Quote |
| B3GLCT Knockout A-549 Cell Line | EDJ-KQ37801 | Human | 145173 | Details Get a Quote |
| B3GLCT Knockout HCT 116 Cell Line | EDJ-KQ37802 | Human | 145173 | Details Get a Quote |
| B3GLCT Knockout HeLa Cell Line | EDJ-KQ37803 | Human | 145173 | Details Get a Quote |
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