GALNT17: Polypeptide N-Acetylgalactosaminyltransferase 17
A member of the GALNT family involved in mucin-type O-glycosylation, with potential roles in cancer and development.
Gene Information Card
| Symbol | GALNT17 |
|---|---|
| Full Name | Polypeptide N-acetylgalactosaminyltransferase 17 |
| Gene Type | protein-coding |
| Chromosomal Location | 7q36.1 |
| NCBI Gene ID | 644096 ncbi.nlm.nih.gov/gene/644096 |
| Ensembl ID | ENSG00000188211 |
| UniProt ID | Q8NCL4 |
| OMIM ID | 615133 |
| HGNC ID | 26433 |
| Aliases | GALNT17, GALNT17, pp-GalNAc-T17, GalNAc-T17 |
Description
GALNT17 encodes a member of the UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase (GalNAc-T) family. These enzymes initiate mucin-type O-linked glycosylation by transferring N-acetylgalactosamine (GalNAc) to serine and threonine residues on target proteins. GALNT17 is expressed in various tissues and is implicated in cancer progression and developmental processes.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Altered O-glycosylation of cell surface proteins may promote tumor growth and metastasis. | COSMIC database reports somatic mutations in multiple cancer types. |
| Developmental disorders | Potential role in neural development; mutations may contribute to intellectual disability. | OMIM #615133; limited evidence from case reports. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Testis | 8.2 | Low |
| Kidney | 6.1 | Low |
| Liver | 3.4 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 10.1 | Moderate expression |
| HeLa | 7.8 | Low expression |
| K562 | 5.2 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | <0.1% | Loss of function; truncated protein |
| c.567G>A (p.Gly189Arg) | Missense | <0.1% | Unknown effect; predicted damaging by SIFT |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations (e.g., p.Arg412*) lead to premature stop codons and loss of enzymatic activity.
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)
| • polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653) | • protein glycosylation (GO:0006486) |
| • membrane (GO:0016020) | • Golgi apparatus (GO:0005794) |
Pathways
• Mucin-type O-glycan biosynthesis (KEGG: hsa00512)
• O-linked glycosylation (Reactome: R-HSA-5173105)
Protein Summary
The GALNT17 protein (UniProt Q8NCL4) is a type II transmembrane glycosyltransferase 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 and a lectin domain that may facilitate substrate recognition. Its expression is tissue-specific, with highest levels in brain and testis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| GALNT17 Knockout HEK293 Cell Line | EDJ-KQ13558 | Human | 64409 | Details Get a Quote |
| GALNT17 Knockout HeLa Cell Line | EDJ-KQ57055 | Human | 64409 | Details Get a Quote |
| GALNT17 Knockout A-549 Cell Line | EDJ-KQ65568 | Human | 64409 | Details Get a Quote |
| GALNT17 Knockout HCT 116 Cell Line | EDJ-KQ73997 | Human | 64409 | Details Get a Quote |
