GALNT16: Polypeptide N-Acetylgalactosaminyltransferase 16

A key enzyme in mucin-type O-glycosylation with implications in cancer and development

Gene Information Card

Symbol GALNT16
Full Name Polypeptide N-acetylgalactosaminyltransferase 16
Gene Type protein-coding
Chromosomal Location 14q24.1
NCBI Gene ID 57452 ncbi.nlm.nih.gov/gene/57452
Ensembl ID ENSG00000100626
UniProt ID Q8N428
OMIM ID 618554
HGNC ID 23239
Aliases GALNACT16, GALNT15, pp-GalNAc-T16, GalNAc-T16

Description

GALNT16 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. It is involved in the biosynthesis of O-glycans and plays roles in cell adhesion, signaling, and tumor 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: 25686123
Pancreatic cancer Dysregulated GALNT16 expression affects glycosylation of MUC1 and other glycoproteins, influencing cancer cell behavior. COSMIC; PMID: 28424480
Ovarian cancer Overexpression of GALNT16 correlates with poor prognosis and altered glycosylation of extracellular matrix proteins. COSMIC; PMID: 29348623

Expression Profile

Tissue Expression
Tissue nTPM level
Colon 12.5 Medium
Pancreas 8.3 Medium
Ovary 6.7 Low
Stomach 5.9 Low
Liver 4.2 Low
Cell Line Expression
Cell Line nTPM Notes
HeLa 15.1 Cervical cancer cell line
HCT116 18.3 Colorectal carcinoma cell line
PANC-1 9.8 Pancreatic cancer cell line
MCF7 7.2 Breast cancer cell line
Data source:Human Protein Atlas(proteinatlas.org)

Mutations & Variants

Hotspot Mutations
Variant Type Frequency Functional Description
c.1015C>T (p.Arg339Trp) Missense 0.001% (gnomAD) Unknown functional effect; predicted damaging by SIFT
c.1420G>A (p.Gly474Ser) Missense 0.002% (gnomAD) Unknown functional effect; predicted tolerated
c.1876_1877insA (p.Thr626Asnfs*12) Frameshift <0.001% Loss of function; truncation of catalytic domain
Mutation functional classification

Loss of Function (LOF)

Frameshift mutations (e.g., p.Thr626Asnfs*12) lead to premature termination and loss of catalytic activity.

Gain of Function (GOF)

No gain-of-function mutations reported in COSMIC or ClinVar.

Dominant Negative (DN)

No dominant-negative mutations described.

Pathways

• O-linked glycosylation of mucins (Reactome: R-HSA-913709)
• Formation of O-glycan core 1 (Reactome: R-HSA-914768)

Protein Summary

GALNT16 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 facilitate substrate recognition. It is expressed in multiple tissues, with highest levels in colon and pancreas. Altered expression and mutations have been linked to cancer progression.

Related Products

Product name Cat.No. Species Gene ID
GALNT16 Knockout HEK293 Cell Line EDJ-KQ13557 Human 57452 Details Get a Quote
GALNT16 Knockout A-549 Cell Line EDJ-KQ43188 Human 57452 Details Get a Quote
GALNT16 Knockout HeLa Cell Line EDJ-KQ43189 Human 57452 Details Get a Quote
GALNT16 Knockout HCT 116 Cell Line EDJ-KQ73789 Human 57452 Details Get a Quote
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