GALNT13: Polypeptide N-Acetylgalactosaminyltransferase 13
Key enzyme in mucin-type O-glycosylation initiation
Gene Information Card
| Symbol | GALNT13 |
|---|---|
| Full Name | Polypeptide N-acetylgalactosaminyltransferase 13 |
| Gene Type | Protein coding |
| Chromosomal Location | 2q24.1 |
| NCBI Gene ID | 114805 ncbi.nlm.nih.gov/gene/114805 |
| Ensembl ID | ENSG00000144224 |
| UniProt ID | Q8N8I0 |
| OMIM ID | 608369 |
| HGNC ID | 23229 |
| Aliases | GalNAc-T13, pp-GalNAc-T13 |
Description
GALNT13 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. GALNT13 is involved in the biosynthesis of O-glycans, which are critical for protein stability, cell adhesion, and signaling. It is expressed in various tissues, with notable roles in the nervous system and cancer biology.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Altered O-glycosylation patterns due to GALNT13 dysregulation may promote tumor growth and metastasis. | COSMIC; literature |
| Neurological disorders | GALNT13 expression in brain suggests involvement in neuronal development and function; mutations may contribute to neurodevelopmental phenotypes. | OMIM; literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Testis | 8.3 | Medium |
| Kidney | 6.1 | Low |
| Lung | 4.7 | Low |
| Liver | 2.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.2 | High expression |
| SH-SY5Y | 10.8 | Medium expression |
| HeLa | 7.4 | Low expression |
| MCF7 | 5.9 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412Trp) | Missense | <0.01% | Unknown functional impact |
| c.567delG (p.Gly189Valfs*12) | Frameshift | <0.01% | Likely loss of function |
| c.890A>G (p.Asn297Ser) | Missense | <0.01% | Unknown functional impact |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations (e.g., c.567delG) are predicted to cause premature truncation 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) |
| • integral component of membrane (GO:0016021) | • Golgi apparatus (GO:0005794) |
Pathways
• O-linked glycosylation of mucins (Reactome: R-HSA-913709)
• Biosynthesis of O-glycans (KEGG: hsa00512)
Protein Summary
GALNT13 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 conserved GT-A fold and a lectin domain that may facilitate substrate recognition. Its activity is essential for proper O-glycan synthesis, influencing protein function in cell-cell interactions and signaling.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| GALNT13 Knockout HEK293 Cell Line | EDJ-KQ3008 | Human | 114805 | Details Get a Quote |
| GALNT13 Knockout A-549 Cell Line | EDJ-KQ24213 | Human | 114805 | Details Get a Quote |
| GALNT13 Knockout HeLa Cell Line | EDJ-KQ18333 | Human | 114805 | Details Get a Quote |
| GALNT13 Knockout HCT 116 Cell Line | EDJ-KQ74850 | Human | 114805 | Details Get a Quote |
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