GALNT8: Polypeptide N-Acetylgalactosaminyltransferase 8
A member of the GalNAc-transferase family involved in mucin-type O-glycosylation initiation.
Gene Information Card
| Symbol | GALNT8 |
|---|---|
| Full Name | Polypeptide N-acetylgalactosaminyltransferase 8 |
| Gene Type | protein-coding |
| Chromosomal Location | 12p13.33 |
| NCBI Gene ID | 26290 ncbi.nlm.nih.gov/gene/26290 |
| Ensembl ID | ENSG00000111247 |
| UniProt ID | Q9NY28 |
| OMIM ID | 608604 |
| HGNC ID | 4125 |
| Aliases | GalNAc-T8, pp-GalNAc-T8 |
Description
GALNT8 encodes a member of the UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase (GalNAc-T) family. This enzyme initiates mucin-type O-linked glycosylation by transferring N-acetylgalactosamine (GalNAc) to serine or threonine residues on target proteins. GALNT8 is predominantly expressed in the brain and is involved in the post-translational modification of proteins, influencing cell adhesion, signaling, and immune recognition.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Altered O-glycosylation patterns may affect tumor cell adhesion and metastasis. | COSMIC database reports somatic mutations in GALNT8 across multiple cancer types. |
| Neurodevelopmental disorders | Potential role in brain development due to high expression in neural tissues. | Limited evidence; inferred from expression data and functional homology. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Testis | 8.3 | Low |
| Thyroid | 6.1 | Low |
| Adrenal gland | 5.4 | Low |
| Lung | 3.2 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 15.0 | High expression in neuronal cell line |
| HEK293 (embryonic kidney) | 4.5 | Moderate expression |
| HeLa (cervical carcinoma) | 2.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1045G>A (p.Gly349Arg) | Missense | 0.01% | Unknown functional effect |
| c.1789C>T (p.Arg597Trp) | Missense | 0.005% | Predicted damaging by in silico tools |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in ClinVar or COSMIC.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653) | • protein O-linked glycosylation (GO:0006493) |
| • integral component of membrane (GO:0016021) | • Golgi apparatus (GO:0005794) |
Pathways
• O-linked glycosylation of mucins (Reactome: R-HSA-913709)
Protein Summary
GALNT8 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 may facilitate substrate recognition. Its expression is highest in brain tissues, suggesting a specialized role in neural glycoprotein modification.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| GALNT8 Knockout HEK293 Cell Line | EDJ-KQ8509 | Human | 26290 | Details Get a Quote |
| GALNT8 Knockout HeLa Cell Line | EDJ-KQ55925 | Human | 26290 | Details Get a Quote |
| GALNT8 Knockout A-549 Cell Line | EDJ-KQ64413 | Human | 26290 | Details Get a Quote |
| GALNT8 Knockout HCT 116 Cell Line | EDJ-KQ72867 | Human | 26290 | Details Get a Quote |
