MGAT5B
Alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase B
Gene Information Card
| Symbol | MGAT5B |
|---|---|
| Full Name | Alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase B |
| Gene Type | protein-coding |
| Chromosomal Location | 17q25.3 |
| NCBI Gene ID | 146664 ncbi.nlm.nih.gov/gene/146664 |
| Ensembl ID | ENSG00000183087 |
| UniProt ID | Q3V5L5 |
| OMIM ID | 609364 |
| HGNC ID | 23336 |
| Aliases | GNT-IX, GnT-VB, MGAT5B |
Description
MGAT5B encodes a member of the glycosyltransferase family, specifically a beta-1,6-N-acetylglucosaminyltransferase that catalyzes the transfer of N-acetylglucosamine to the core mannose residues of N-linked glycans. This enzyme is involved in the formation of branched N-glycans, which modulate cell adhesion, migration, and signaling. MGAT5B is highly expressed in the brain and is implicated in cancer progression and metastasis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Colorectal Cancer | Altered glycosylation by MGAT5B enhances cell migration and invasion via modulation of integrin and growth factor receptor signaling. | COSMIC; PMID: 21502544 |
| Breast Cancer | Overexpression of MGAT5B is associated with increased metastatic potential through changes in N-glycan branching on cell surface receptors. | COSMIC; PMID: 21502544 |
| Glioma | MGAT5B expression correlates with tumor grade and poor prognosis, promoting invasiveness via altered N-glycosylation. | COSMIC; PMID: 21502544 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Testis | 8.3 | Medium |
| Lung | 4.1 | Low |
| Colon | 3.2 | Low |
| Breast | 2.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.2 | High expression |
| SH-SY5Y | 18.7 | Neuronal cell line |
| HCT116 | 6.5 | Colorectal cancer cell line |
| MCF7 | 5.1 | Breast cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234G>A (p.Gly412Arg) | Missense | <0.1% | Unknown functional impact |
| c.567_568del (p.Leu190fs) | Frameshift | <0.1% | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations (e.g., p.Leu190fs) likely result in truncated, non-functional protein.
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)
| • acetylglucosaminyltransferase activity (GO:0008375) | • protein glycosylation (GO:0006486) |
| • integral component of membrane (GO:0016021) | • Golgi apparatus (GO:0005794) |
Pathways
• REACT:21369 - N-glycan biosynthesis
• REACT:21370 - N-glycan antennae elongation
Protein Summary
MGAT5B is a Golgi-resident type II transmembrane protein that catalyzes the addition of N-acetylglucosamine in beta-1,6 linkage to the alpha-1,6-mannose arm of N-glycans. This activity generates tri- and tetra-antennary structures, influencing cell surface receptor function and cellular behavior. The protein is 741 amino acids long and contains a conserved glycosyltransferase domain.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MGAT5B Knockout HEK293 Cell Line | EDJ-KQ10487 | Human | 146664 | Details Get a Quote |
| MGAT5B Knockout A-549 Cell Line | EDJ-KQ36595 | Human | 146664 | Details Get a Quote |
| MGAT5B Knockout HCT 116 Cell Line | EDJ-KQ37883 | Human | 146664 | Details Get a Quote |
| MGAT5B Knockout HeLa Cell Line | EDJ-KQ37884 | Human | 146664 | Details Get a Quote |
