GALNT7: Polypeptide N-Acetylgalactosaminyltransferase 7
Key enzyme in mucin-type O-glycosylation with roles in cancer and development
Gene Information Card
| Symbol | GALNT7 |
|---|---|
| Full Name | Polypeptide N-acetylgalactosaminyltransferase 7 |
| Gene Type | protein-coding |
| Chromosomal Location | 4q31.1 |
| NCBI Gene ID | 51809 ncbi.nlm.nih.gov/gene/51809 |
| Ensembl ID | ENSG00000109586 |
| UniProt ID | Q86SF2 |
| OMIM ID | 609327 |
| HGNC ID | 4126 |
| Aliases | GalNAc-T7, pp-GalNAc-T7 |
Description
GALNT7 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. GALNT7 is involved in the biosynthesis of O-glycans and has been implicated in cancer progression, particularly in ovarian and colorectal cancers, as well as in developmental processes.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Ovarian cancer | Overexpression of GALNT7 enhances O-glycosylation of mucins, promoting tumor cell adhesion and metastasis. | PMID: 23431131 |
| Colorectal cancer | GALNT7 upregulation correlates with poor prognosis; alters glycosylation of cell surface receptors affecting signaling. | PMID: 26045170 |
| Gastric cancer | Increased GALNT7 expression associated with lymph node metastasis and advanced stage. | PMID: 27566583 |
| Breast cancer | GALNT7 knockdown reduces cell proliferation and migration in vitro. | PMID: 29346770 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Colon | 12.5 | Medium |
| Ovary | 9.8 | Medium |
| Stomach | 8.3 | Medium |
| Breast | 6.7 | Low |
| Liver | 4.2 | Low |
| Pancreas | 3.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 15.2 | Cervical cancer cell line |
| MCF7 | 11.4 | Breast cancer cell line |
| OVCAR-3 | 18.7 | Ovarian cancer cell line |
| HCT116 | 14.9 | Colorectal cancer cell line |
| A549 | 8.1 | Lung cancer cell line |
Data source:Human Protein Atlas(proteinatlas.org)
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1246G>A (p.Gly416Arg) | Missense | 0.02% (gnomAD) | Unknown functional impact |
| c.1873C>T (p.Arg625Trp) | Missense | 0.01% (gnomAD) | Predicted damaging (SIFT) |
| c.2140_2141del (p.Leu714fs) | Frameshift | <0.01% | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations (e.g., p.Leu714fs) likely result in truncated, non-functional enzyme.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported in COSMIC or ClinVar.
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
• Mucin-type O-glycan biosynthesis (KEGG: hsa00512)
• O-linked glycosylation (Reactome: R-HSA-5173105)
Protein Summary
GALNT7 is a type II transmembrane protein localized to the Golgi apparatus. It catalyzes the initial step of mucin-type O-glycosylation, transferring GalNAc from UDP-GalNAc to serine/threonine residues. The protein contains a catalytic domain with a GT-A fold and a lectin domain that may assist in substrate recognition. Its expression is elevated in several cancers, suggesting a role in tumor progression through altered glycosylation of adhesion molecules and receptors.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| GALNT7 Knockout HEK293 Cell Line | EDJ-KQ11226 | Human | 51809 | Details Get a Quote |
| GALNT7 Knockout A-549 Cell Line | EDJ-KQ39298 | Human | 51809 | Details Get a Quote |
| GALNT7 Knockout HCT 116 Cell Line | EDJ-KQ39299 | Human | 51809 | Details Get a Quote |
| GALNT7 Knockout HeLa Cell Line | EDJ-KQ39300 | Human | 51809 | Details Get a Quote |