GALNT11: Polypeptide N-Acetylgalactosaminyltransferase 11
Key regulator of O-glycosylation in development and disease
Gene Information Card
| Symbol | GALNT11 |
|---|---|
| Full Name | Polypeptide N-acetylgalactosaminyltransferase 11 |
| Gene Type | protein-coding |
| Chromosomal Location | 7q36.1 |
| NCBI Gene ID | 63917 ncbi.nlm.nih.gov/gene/63917 |
| Ensembl ID | ENSG00000178209 |
| UniProt ID | Q8NCG7 |
| OMIM ID | 615133 |
| HGNC ID | 23273 |
| Aliases | GALNACT11, GalNAc-T11, pp-GalNAc-T11 |
Description
GALNT11 encodes a member of the UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase (GalNAc-T) family, which initiates mucin-type O-linked glycosylation in the Golgi apparatus. This enzyme transfers N-acetylgalactosamine (GalNAc) to serine and threonine residues on target proteins, playing a critical role in protein modification, cell signaling, and developmental processes.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Congenital disorders of glycosylation (CDG) | Impaired O-glycosylation due to GALNT11 mutations disrupts protein function and development | OMIM #615133 |
| Renal hypodysplasia | GALNT11 variants affect Notch signaling via altered O-glycosylation, leading to kidney malformations | PMID: 25772935 |
| Cancer (various) | Dysregulated GALNT11 expression alters tumor cell O-glycosylation, impacting adhesion and metastasis | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Kidney | 12.5 | Medium |
| Testis | 8.3 | Medium |
| Brain | 6.1 | Low |
| Liver | 4.7 | Low |
| Heart | 3.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.0 | Embryonic kidney cells |
| HeLa | 9.8 | Cervical cancer cells |
| HepG2 | 5.4 | Liver cancer cells |
| A549 | 4.1 | Lung cancer cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.442G>A (p.Gly148Arg) | Missense | <0.01% | Reduced enzyme activity; associated with renal hypodysplasia |
| c.1045C>T (p.Arg349Trp) | Missense | <0.01% | Altered substrate specificity; reported in CDG |
| c.1234delC (p.Leu412Trpfs*5) | Frameshift | <0.01% | Loss of function; likely pathogenic |
Mutation functional classification
Loss of Function (LOF)
Missense and frameshift mutations that reduce or abolish GalNAc transferase activity, leading to defective O-glycosylation.
Gain of Function (GOF)
Not reported for GALNT11.
Dominant Negative (DN)
Not reported for GALNT11.
View complete mutation data：
Gene Ontology (GO)
| • polypeptide N-acetylgalactosaminyltransferase activity | • Golgi apparatus |
| • protein O-linked glycosylation | • transferase activity |
| • transferring glycosyl groups | • manganese ion binding |
Pathways
• Mucin-type O-glycan biosynthesis (KEGG: hsa00512)
• O-linked glycosylation of proteins (Reactome: R-HSA-5173105)
Protein Summary
GALNT11 is a type II transmembrane protein localized to the Golgi apparatus. It catalyzes the initial step of mucin-type O-glycosylation, transferring GalNAc to serine/threonine residues. The protein contains a catalytic domain with a GT-A fold and a lectin domain that facilitates substrate recognition. Its activity is critical for proper Notch receptor modification and kidney development.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| GALNT11 Knockout HEK293 Cell Line | EDJ-KQ12800 | Human | 63917 | Details Get a Quote |
| GALNT11 Knockout A-549 Cell Line | EDJ-KQ43182 | Human | 63917 | Details Get a Quote |
| GALNT11 Knockout HCT 116 Cell Line | EDJ-KQ43184 | Human | 63917 | Details Get a Quote |
| GALNT11 Knockout HeLa Cell Line | EDJ-KQ43185 | Human | 63917 | Details Get a Quote |
