GALNTL5: Polypeptide N-Acetylgalactosaminyltransferase-Like 5
A member of the UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase family involved in mucin-type O-glycosylation.
Gene Information Card
| Symbol | GALNTL5 |
|---|---|
| Full Name | Polypeptide N-acetylgalactosaminyltransferase-like 5 |
| Gene Type | Protein coding |
| Chromosomal Location | 3q26.31 |
| NCBI Gene ID | 168391 ncbi.nlm.nih.gov/gene/168391 |
| Ensembl ID | ENSG00000163902 |
| UniProt ID | Q7Z7M9 |
| OMIM ID | 615338 |
| HGNC ID | 23262 |
| Aliases | GALNT15, pp-GalNAc-T15, GalNAc-T-like 5 |
Description
GALNTL5 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 or threonine residues on target proteins. GALNTL5 is predicted to function in the Golgi apparatus and may play a role in the glycosylation of specific substrates, though its precise biological functions are still under investigation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Altered O-glycosylation patterns may contribute to tumor progression and metastasis. | COSMIC database reports somatic mutations in multiple cancer types. |
| No specific Mendelian disease association | Not yet established; OMIM lists no disease phenotype. | OMIM #615338 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Thyroid | 8.2 | Low |
| Adrenal gland | 6.1 | Low |
| Prostate | 5.4 | Low |
| Brain (cerebellum) | 4.8 | Low |
| Other tissues | <4.0 | Not detected / Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 5.2 | Low expression |
| HeLa | 3.1 | Low expression |
| K562 | 2.0 | Low expression |
| A549 | 1.5 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1042G>A (p.Gly348Arg) | Missense | <0.01% (COSMIC) | Unknown functional impact |
| c.157C>T (p.Arg53Trp) | Missense | <0.01% (COSMIC) | Unknown functional impact |
| c.1234_1235insA | Frameshift | <0.01% (COSMIC) | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense variants are predicted to cause loss of function, but no confirmed pathogenic loss-of-function mutations have been reported.
Gain of Function (GOF)
No gain-of-function mutations have been described.
Dominant Negative (DN)
No dominant-negative mutations have been reported.
View complete mutation data：
Gene Ontology (GO)
| • Golgi membrane (GO:0000139) | • Golgi apparatus (GO:0005794) |
| • acetylgalactosaminyltransferase activity (GO:0008376) | • integral component of membrane (GO:0016021) |
| • protein O-linked glycosylation (GO:0006493) |
Pathways
• ['O-linked glycosylation of mucins (Reactome: R-HSA-913709)']
• ['Mucin-type O-glycan biosynthesis (KEGG: hsa00512)']
Protein Summary
GALNTL5 (GalNAc-T-like 5) is a 648-amino acid type II transmembrane protein localized to the Golgi apparatus. It contains a catalytic domain characteristic of GalNAc-transferases and is predicted to transfer GalNAc to serine/threonine residues. Its expression is highest in testis, suggesting a possible role in reproductive biology. The protein's specific substrates and full biological function remain to be elucidated.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| GALNTL5 Knockout HEK293 Cell Line | EDJ-KQ3310 | Human | 168391 | Details Get a Quote |
| GALNTL5 Knockout HeLa Cell Line | EDJ-KQ58912 | Human | 168391 | Details Get a Quote |
| GALNTL5 Knockout A-549 Cell Line | EDJ-KQ67400 | Human | 168391 | Details Get a Quote |
| GALNTL5 Knockout HCT 116 Cell Line | EDJ-KQ75794 | Human | 168391 | Details Get a Quote |
