GALNT4: Polypeptide N-Acetylgalactosaminyltransferase 4
Key enzyme in mucin-type O-glycosylation initiation
Gene Information Card
| Symbol | GALNT4 |
|---|---|
| Full Name | Polypeptide N-acetylgalactosaminyltransferase 4 |
| Gene Type | Protein coding |
| Chromosomal Location | 12q24.33 |
| NCBI Gene ID | 8693 ncbi.nlm.nih.gov/gene/8693 |
| Ensembl ID | ENSG00000110848 |
| UniProt ID | Q8N4A0 |
| OMIM ID | 603565 |
| HGNC ID | 4125 |
| Aliases | GalNAc-T4, GALNAC-T4, pp-GalNAc-T4 |
Description
GALNT4 encodes a member of the UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase (GalNAc-T) family. This enzyme catalyzes the initial step of mucin-type O-linked glycosylation, transferring N-acetylgalactosamine (GalNAc) to serine or threonine residues on target proteins. GALNT4 is involved in the biosynthesis of O-glycans and plays roles in cell adhesion, signaling, and cancer progression.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Colorectal cancer | Altered O-glycosylation of mucins and cell surface proteins may promote tumor growth and metastasis. | COSMIC; PMID: 25691885 |
| Pancreatic cancer | Overexpression of GALNT4 correlates with poor prognosis and aberrant glycosylation of MUC1. | COSMIC; PMID: 28341696 |
| Breast cancer | GALNT4 expression changes affect O-glycosylation of proteins involved in cell migration. | COSMIC; PMID: 24937431 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Colon | 12.5 | Medium |
| Pancreas | 10.8 | Medium |
| Stomach | 9.2 | Medium |
| Liver | 6.1 | Low |
| Breast | 5.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 15.3 | Cervical cancer cell line |
| MCF7 | 8.7 | Breast cancer cell line |
| HCT116 | 14.1 | Colorectal cancer cell line |
| PANC-1 | 11.2 | Pancreatic cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1015C>T (p.Arg339Cys) | Missense | <0.1% | Unknown functional effect; reported in COSMIC |
| c.1286G>A (p.Arg429His) | Missense | <0.1% | Unknown functional effect; reported in COSMIC |
| c.1462G>A (p.Gly488Arg) | Missense | <0.1% | Unknown functional effect; reported in COSMIC |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in ClinVar or COSMIC for GALNT4.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No confirmed dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653) | • protein glycosylation (GO:0006486) |
| • integral component of membrane (GO:0016021) | • Golgi apparatus (GO:0005794) |
Pathways
• O-linked glycosylation of mucins (Reactome: R-HSA-913709)
• Formation of O-glycan core 1 (Reactome: R-HSA-914768)
Protein Summary
GALNT4 is a type II transmembrane protein localized to the Golgi apparatus. It belongs to the GalNAc-T family and initiates mucin-type O-glycosylation by transferring GalNAc to serine/threonine residues. The protein consists of a short N-terminal cytoplasmic tail, a transmembrane domain, a stem region, and a catalytic domain. It is widely expressed in epithelial tissues and is implicated in cancer through altered glycosylation patterns.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| GALNT4 Knockout HEK293 Cell Line | EDJ-KQ50816 | Human | 8693 | Details Get a Quote |
| POC1B-GALNT4 Knockout HEK293 Cell Line | EDJ-KQ52487 | Human | 100528030 | Details Get a Quote |
| GALNT4 Knockout HeLa Cell Line | EDJ-KQ54982 | Human | 8693 | Details Get a Quote |
| POC1B-GALNT4 Knockout HeLa Cell Line | EDJ-KQ60950 | Human | 100528030 | Details Get a Quote |
| GALNT4 Knockout A-549 Cell Line | EDJ-KQ63464 | Human | 8693 | Details Get a Quote |
| POC1B-GALNT4 Knockout A-549 Cell Line | EDJ-KQ69425 | Human | 100528030 | Details Get a Quote |
| GALNT4 Knockout HCT 116 Cell Line | EDJ-KQ71932 | Human | 8693 | Details Get a Quote |
| POC1B-GALNT4 Knockout HCT 116 Cell Line | EDJ-KQ77776 | Human | 100528030 | Details Get a Quote |
