Affinage

GALNT3

Polypeptide N-acetylgalactosaminyltransferase 3 · UniProt Q14435

Length
633 aa
Mass
72.6 kDa
Annotated
2026-06-10
100 papers in source corpus 28 papers cited in narrative 28 extracted findings
Cross-family judge vs UniProt: Affinage preferred faithfulness: 7/7 claims corpus-supported (100%)

Mechanistic narrative

Synthesis pass · prose summary of the discoveries below

GALNT3 encodes a Golgi-resident UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase (GalNAc-T3) that initiates mucin-type O-linked glycosylation by transferring GalNAc to serine/threonine residues, with a substrate specificity distinct from other family members (PMID:8663203). Its best-defined physiological role is the O-glycosylation of FGF23, which protects the hormone from proteolytic processing and is required for secretion of intact, bioactive FGF23, thereby controlling phosphate homeostasis (PMID:16940445, PMID:19213845, PMID:25051439). Structural and biochemical work shows that GalNAc-T3 glycosylates FGF23 at Thr178 through a lectin-domain-dependent mechanism requiring prior glycosylation at Thr171, an inefficient site that renders intact FGF23 levels uniquely sensitive to GalNAc-T3 activity (PMID:31932717); this reaction is antagonized by FAM20C phosphorylation of FGF23 Ser180, which blocks glycosylation and promotes furin cleavage, establishing a phosphorylation–glycosylation switch (PMID:24706917). Biallelic loss-of-function mutations in GALNT3 cause hyperphosphatemic familial tumoral calcinosis and the allelic hyperostosis-hyperphosphatemia syndrome, characterized by low intact and elevated C-terminal FGF23 and ectopic calcification (PMID:15133511, PMID:15599692, PMID:17311862). Galnt3 ablation in mice reproduces hyperphosphatemia and additionally causes male infertility through loss of O-glycosylation of equatorin and failure of acrosome formation (PMID:19213845, PMID:23052838). Beyond FGF23, GalNAc-T3 O-glycosylates a broad set of substrates with tissue-specific consequences—E-cadherin to maintain epithelial identity (PMID:30917321), Muc10 in salivary glands (PMID:31882545), TNFR1 and c-MET to restrain NF-κB and AKT signaling (PMID:34416337, PMID:36473594), EGFR for cytoprotection in renal tubule cells (PMID:39446490), FGFR2 at Thr319 to drive oncogenic MAPK signaling in lymphoma (PMID:41408565), and TREM2 to stabilize anti-inflammatory microglial signaling (PMID:41814467); in cartilage, excess GalNAc-T3 competes for serine acceptor sites on aggrecan and disrupts proteoglycan glycosylation (PMID:25107907). GALNT3 expression is induced by extracellular phosphate, calcium, and 1,25-dihydroxyvitamin D3 and is transcriptionally controlled by Runx2 (PMID:18976705, PMID:38396954).

Mechanistic history

Synthesis pass · year-by-year structured walk · 18 steps
  1. 1996 High

    Established the biochemical identity of GALNT3 as an O-glycosylation-initiating enzyme with its own substrate preference, distinguishing it from related transferases.

    Evidence cDNA cloning and baculovirus expression with in vitro transferase activity assays in insect cells

    PMID:8663203

    Open questions at the time
    • No physiological substrates identified at this stage
    • Tissue-specific roles unknown
  2. 2004 High

    Linked GALNT3 to human disease, showing that loss of this glycosyltransferase causes a phosphate homeostasis disorder and defining an unexpected endocrine function.

    Evidence Linkage analysis and sequencing of GALNT3 in familial tumoral calcinosis and HHS families identifying biallelic and shared splice-site mutations

    PMID:15133511 PMID:15599692

    Open questions at the time
    • Molecular substrate connecting GALNT3 to phosphate not yet identified
    • Mechanism of ectopic calcification unresolved
  3. 2006 Medium

    Connected GALNT3 enzymatic function to FGF23, showing the catalytic domain is required for O-glycosylation and secretion of intact FGF23.

    Evidence GALNT3 sequencing of patients with intact vs C-terminal FGF23 ELISA

    PMID:16940445 PMID:17311862

    Open questions at the time
    • Glycosylation site on FGF23 not mapped
    • Inference from human genetics rather than direct enzymatic assay
  4. 2009 High

    Provided in vivo causal proof that Galnt3 glycosylation is essential for intact Fgf23 secretion and revealed an additional fertility phenotype.

    Evidence Galnt3 knockout mice with serum phosphate/Fgf23 measurements and renal gene expression

    PMID:19213845

    Open questions at the time
    • Mechanism of male infertility undefined at this point
    • Direct glycosylation site still unmapped
  5. 2012 High

    Defined the reproductive mechanism by identifying equatorin as a substrate and linking Galnt3 loss to failed acrosome biogenesis.

    Evidence Galnt3-/- mouse histology, lectin staining, equatorin O-glycosylation Western blot, and electron microscopy of acrosome morphology

    PMID:23052838

    Open questions at the time
    • Whether other acrosomal substrates contribute not addressed
    • Relationship to FGF23 axis distinct but mechanistically separate
  6. 2012 Low

    Confirmed that catalytic activity, not mere Golgi targeting, is required for cellular O-glycosylation function.

    Evidence Stable expression of catalytic-dead GALNT3 mutants in BEAS-2B cells with localization and glycosylation analysis

    PMID:22785053

    Open questions at the time
    • Single lab, glycosylation readout not detailed
    • No substrate-level resolution
  7. 2014 High

    Resolved the regulatory logic of intact FGF23 by showing a kinase–glycosyltransferase competition controls FGF23 cleavage.

    Evidence In vitro FAM20C kinase assay, cell-based glycosylation inhibition assay, and furin cleavage assay on FGF23 Ser180

    PMID:24706917

    Open questions at the time
    • Physiological regulators of FAM20C activity toward FGF23 not defined
    • In vivo dominance of phospho vs glyco state not quantified
  8. 2014 High

    Clarified that GALNT3's role is restricted to FGF23 secretion rather than downstream signaling, using genetic rescue.

    Evidence Galnt3 KO crossed with cleavage-resistant FGF23 transgenic/knock-in mice and phosphate measurements

    PMID:25051439

    Open questions at the time
    • Does not address GALNT3 substrates outside FGF23
    • Tissue contributions to phosphate phenotype not parsed
  9. 2014 High

    Showed GALNT3 activity affects skeletal development beyond FGF23 by competing for acceptor sites on aggrecan.

    Evidence Chondrocyte-specific Galnt3 transgenic and Galnt3-/- mice with lectin and safranin O staining

    PMID:25107907

    Open questions at the time
    • Direct competition with xylosyltransferases inferred, not biochemically reconstituted
    • Other proteoglycan substrates not surveyed
  10. 2019 High

    Extended GALNT3 substrate range to E-cadherin, linking its glycosylation activity to epithelial identity and trafficking.

    Evidence GALNT3 KO/rescue in trophoblast stem cells and HMECs with E-cadherin localization and EMT marker analysis

    PMID:30917321

    Open questions at the time
    • E-cadherin glycosylation sites not mapped
    • Generalizability across epithelial tissues untested
  11. 2019 Medium

    Identified Galnt3 as the dominant salivary gland O-glycosyltransferase acting on Muc10 with consequences for the oral microbiome.

    Evidence Expression profiling, in vivo Muc10 substrate identification, and 16S microbiome sequencing in Galnt3-/- mice

    PMID:31882545

    Open questions at the time
    • Direct mapping of Muc10 glycosites not shown
    • Single lab
  12. 2020 High

    Provided the structural and kinetic basis for GALNT3's selective control of FGF23, explaining disease mutations.

    Evidence X-ray crystallography of GalNAc-T3 with glycopeptide substrates plus kinetics and molecular dynamics

    PMID:31932717

    Open questions at the time
    • Structural basis for other substrates not addressed
    • In vivo relevance of loop destabilization not directly tested
  13. 2021 Medium

    Expanded GALNT3's role to receptor signaling, showing O-glycosylation of TNFR1 and c-MET restrains pro-tumorigenic NF-κB/AKT pathways.

    Evidence Xenograft/syngeneic mouse models with GALNT3 KD/OE and TNFR1/c-MET immunoprecipitation

    PMID:34416337

    Open questions at the time
    • Glycosylation sites on TNFR1/c-MET not defined
    • Single lab
  14. 2022 Medium

    Demonstrated a vascular-protective role for GALNT3 via TNFR1 glycosylation and FGF23 stabilization, blocking calcification.

    Evidence Adenoviral/AAV GALNT3 manipulation in HASMCs and calcified mice, VVL pull-down, TNFR1 IP, and Wnt/β-catenin rescue with LiCl

    PMID:36162588 PMID:36473594

    Open questions at the time
    • Relative contributions of TNFR1 vs FGF23 mechanisms not separated
    • Single lab
  15. 2024 Medium

    Placed EGFR O-glycosylation downstream of GALNT3 in a renal cytoprotective pathway against ischemic injury.

    Evidence GALNT3 KD/OE in renal proximal tubular cells, H/R model, T3inh-1 in mice, and EGFR overexpression rescue

    PMID:39446490

    Open questions at the time
    • EGFR glycosylation site not mapped
    • Single lab
  16. 2024 Medium

    Established Runx2 as a direct transcriptional regulator of Galnt3, tying GALNT3 expression to osteoblast biology and bone mineralization.

    Evidence Runx2 OE/KD and conditional KO with Galnt3 reporter assay and histomorphometry in Galnt3-/- mice

    PMID:38396954

    Open questions at the time
    • Regulatory elements bound by Runx2 not defined
    • Single lab
  17. 2025 Medium

    Identified site-specific FGFR2 (Thr319) and TREM2 (Ser147) glycosylation as drivers of context-dependent signaling in lymphoma and microglia.

    Evidence Mass spectrometry site mapping, site-directed mutagenesis, co-immunoprecipitation, and rescue experiments in DLBCL and ischemia models

    PMID:41408565 PMID:41814467

    Open questions at the time
    • Single lab for each substrate
    • Whether these substrates share a common lectin-domain mechanism not tested
  18. 2026 Medium

    Reconfirmed in patient-derived mutations that catalytically defective GALNT3 fails to glycosylate and secrete intact FGF23.

    Evidence Functional transfection with WGA affinity chromatography detecting glycosylated FGF23 in conditioned medium

    PMID:41898628

    Open questions at the time
    • Single lab
    • Effect of these specific mutations on non-FGF23 substrates untested

Open questions

Synthesis pass · forward-looking unresolved questions
  • It remains unresolved how GALNT3 selects among its diverse substrates in different tissues and whether the lectin-domain-dependent priming mechanism defined for FGF23 generalizes to E-cadherin, EGFR, FGFR2, TNFR1, and TREM2.
  • Glycosylation sites unmapped for most non-FGF23 substrates
  • No structural data for non-FGF23 substrate complexes
  • Tissue-specific substrate selectivity determinants unknown

Mechanism profile

Synthesis pass · controlled-vocabulary classification · explore literature graph →
Molecular activity
GO:0140096 catalytic activity, acting on a protein 5 GO:0016740 transferase activity 3
Localization
GO:0005794 Golgi apparatus 4
Pathway
R-HSA-162582 Signal Transduction 5 R-HSA-392499 Metabolism of proteins 3
Partners
C-METE-CADHERINEGFREQUATORINFGF23FGFR2TNFR1TREM2

Evidence

Reading pass · 28 per-paper findings extracted from the source corpus
Year Finding Method Journal Conf PMIDs
1996 GALNT3 encodes a novel UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase (GalNAc-T3) that catalyzes mucin-type O-linked glycosylation of serine and threonine residues; expressed as a soluble recombinant protein in insect cells, it showed substrate specificity distinct from GalNAc-T1 and T2. cDNA cloning, baculovirus expression, in vitro transferase activity assay The Journal of biological chemistry High 8663203
2004 Biallelic loss-of-function mutations in GALNT3, which encodes a glycosyltransferase responsible for initiating mucin-type O-glycosylation, cause familial tumoral calcinosis (hyperphosphatemia with ectopic calcifications), establishing GALNT3 as essential for phosphate homeostasis. Linkage analysis, GALNT3 sequence analysis in FTC families, identification of biallelic deleterious mutations Nature genetics High 15133511
2004 Hyperostosis-hyperphosphatemia syndrome (HHS) and hyperphosphatemic familial tumoral calcinosis (HFTC) are allelic disorders caused by mutations in GALNT3; a splice site mutation (1524+1G→A) found in both HHS and HFTC families was previously shown to alter GALNT3 expression and result in ppGalNAc-T3 deficiency. Mutation analysis by sequencing, microsatellite haplotype analysis across GALNT3 locus Journal of molecular medicine (Berlin, Germany) High 15599692
2006 Missense mutations in the glycosyltransferase domain of GALNT3 cause tumoral calcinosis with undetectable intact FGF23 and elevated C-terminal FGF23 fragments, demonstrating that the GalNAc-T3 glycosyltransferase domain is required for O-glycosylation of FGF23 and that glycosylation is necessary for secretion of full-length functional FGF23. DNA sequencing of GALNT3, serum FGF23 measurement by ELISA (intact vs. C-terminal assays) The Journal of clinical endocrinology and metabolism Medium 16940445
2007 GALNT3 mutations in HHS result in low intact but elevated C-terminal FGF23 serum levels, a pattern identical to tumoral calcinosis, indicating that GALNT3-mediated O-glycosylation protects FGF23 from proteolytic cleavage in vivo. DNA sequencing, serum intact and C-terminal FGF23 ELISA The Journal of clinical endocrinology and metabolism Medium 17311862
2008 GALNT3 expression is transcriptionally upregulated by extracellular inorganic phosphate, calcium, and 1,25-dihydroxyvitamin D3; knockdown of GALNT3 in human skin fibroblasts increases expression of FGF7 and matrix metalloproteinases, implicating GALNT3 in peripheral tissue regulation relevant to ectopic calcification. Reporter/expression assays with phosphate/calcium/vitamin D treatment, siRNA knockdown, qRT-PCR for downstream targets Biochimica et biophysica acta Medium 18976705
2009 Ablation of Galnt3 in mice leads to reduced circulating intact Fgf23 and elevated C-terminal Fgf23 fragments, hyperphosphatemia, and male infertility, providing in vivo evidence that Galnt3 O-glycosylation is essential for secretion of intact Fgf23. Galnt3 knockout mouse generation, serum phosphate/Fgf23 measurements, renal gene expression analysis Endocrinology High 19213845
2011 GalNAc-T3 is overexpressed in pancreatic cancer cells; its suppression attenuates growth and induces apoptosis in vitro and in vivo. GNAT1 was identified as a potential substrate protein of GalNAc-T3, and GalNAc-T3 affects the subcellular distribution of O-glycosylated GNAT1. siRNA knockdown, xenograft mouse model, mass spectrometry substrate identification, subcellular localization assay Oncogene Medium 21625220
2012 Galnt3 protein localizes to the cis-medial Golgi in spermatocytes and spermatids; its deficiency drastically reduces mucin-type O-glycans (Tn antigen) in the acrosomal region, prevents coalescence of proacrosomal vesicles into a single acrosomal vesicle, and abolishes O-glycosylation of equatorin, leading to oligoasthenoteratozoospermia and male infertility. Galnt3-/- mouse histology, lectin (VVA) staining, immunohistochemistry, Western blot for equatorin O-glycosylation, electron microscopy of acrosome morphology Histochemistry and cell biology High 23052838
2012 An ENU-induced Trp589Arg missense mutation in Galnt3 causes endoplasmic reticulum retention of mutant Galnt3 protein and defective Galnt3 glycosylation, resulting in FTC/HHS phenotype with low intact Fgf23 and hyperphosphatemia in mice. Transient transfection of WT and mutant Galnt3-EGFP in COS-7 cells (subcellular localization), Western blot of kidney homogenates for glycosylation, serum phosphate/Fgf23 measurements PloS one Medium 22912827
2014 Fam20C directly phosphorylates FGF23 on Ser180, within the furin cleavage motif; this phosphorylation inhibits O-glycosylation of FGF23 by GalNAc-T3 and promotes FGF23 cleavage by furin, establishing a phosphorylation–glycosylation cross-talk that dynamically regulates intact FGF23 levels. In vitro kinase assay (Fam20C phosphorylation of FGF23 Ser180), cell-based glycosylation assay showing phospho-Ser180 blocks GalNAc-T3, furin cleavage assay Proceedings of the National Academy of Sciences of the United States of America High 24706917
2014 O-glycosylation of FGF23 by ppGalNAc-T3 is required only for proper secretion of intact Fgf23, but once secreted, glycosylation does not affect Fgf23 signaling function; stabilization-resistant FGF23 (ADHR R176Q/R179Q mutations) rescues hyperphosphatemia in Galnt3-null mice. Galnt3 KO × FGF23 transgenic and knock-in mouse crosses, serum phosphorus and intact FGF23 measurements, genetic rescue epistasis Endocrinology High 25051439
2014 Overexpression of Galnt3 in chondrocytes causes dwarfism by increasing mucin-type O-glycans on aggrecan (Tn antigen enrichment) and reducing glycosaminoglycan (GAG) deposition, likely via competition with xylosyltransferases for serine acceptor sites; Galnt3-/- mice show delayed endochondral ossification. Chondrocyte-specific Galnt3 transgenic mice (Col2a1 promoter), Galnt3-/- mice, VVA lectin staining (Tn antigen), safranin O staining (GAGs), Runx2 KO cartilage expression analysis The Journal of biological chemistry High 25107907
2015 IAV infection rapidly downregulates miR-17-3p and miR-221 that normally target GALNT3 mRNA, leading to upregulation of GALNT3 and enhanced mucin-type O-glycosylation; GALNT3 knockdown (siRNA and galnt3-KO mice) significantly reduces IAV replication, demonstrating that GALNT3-mediated O-glycosylation promotes viral replication. siRNA knockdown, miRNA mimic overexpression, galnt3-/- mouse infection model, lectin microarray for O-glycosylation, IAV titer measurement Journal of virology High 26637460
2015 GALNT3 knockdown in HUVECs promotes apoptosis and upregulates MMP-2 and MMP-14 expression via p38 MAPK pathway activation; conversely, GALNT3 overexpression inhibits apoptosis and MMP expression and attenuates hypoxia-induced apoptosis; the p38 MAPK inhibitor SB203580 blocks the pro-apoptotic effect of GALNT3 knockdown. siRNA knockdown, cDNA overexpression, hypoxia model, Western blot for p-p38/p38, apoptosis assays Atherosclerosis Medium 26714046
2018 GALNT3 inhibits NF-κB signaling during influenza A virus infection by preventing nuclear translocation of phosphorylated p65; overexpression of GALNT3 markedly inhibits IAV replication in cell lines. GALNT3 overexpression in cell lines, nuclear fractionation and Western blot for p-p65 localization, IAV titer assay Biochemical and biophysical research communications Medium 30100058
2019 GALNT3 loss in trophoblast stem cells reduces O-GalNAc glycosylation and induces epithelial-mesenchymal transition (EMT); GALNT3 O-glycosylates E-cadherin, and its loss causes intracellular Golgi retention of E-cadherin; re-expression of GALNT3 restores O-GalNAc glycosylation and the epithelial state. GALNT3 KO/rescue in trophoblast stem cells and HMECs, immunofluorescence for E-cadherin subcellular localization (Golgi retention), O-GalNAc lectin staining, EMT marker analysis Cell reports High 30917321
2019 Galnt3 is the major O-glycosyltransferase expressed in salivary gland secretory cells and directly O-glycosylates Muc10 (the major salivary mucin) in vivo; loss of Galnt3 alters the composition and stability of the oral microbiome. RT-PCR expression profiling of salivary gland glycosyltransferases, 16S rRNA microbiome sequencing in Galnt3-/- mice, in vivo substrate identification of Muc10 The Journal of biological chemistry Medium 31882545
2020 GalNAc-T3 O-glycosylates FGF23 Thr178 using a lectin-domain-mediated mechanism that requires prior glycosylation at Thr171; Thr178 is a poor substrate site due to substrate clashes causing destabilization of the catalytic domain flexible loop, explaining why GalNAc-T3 specifically controls circulating intact FGF23 levels. Crystal structures of GalNAc-T3 complexed with glycopeptide substrates reveal the molecular basis of disease-causing mutations. X-ray crystallography of GalNAc-T3 with glycopeptide substrates, kinetic assays, molecular dynamics, engineered cell glycosylation models Nature chemical biology High 31932717
2021 GALNT3 suppresses lung cancer by O-GalNAcylating TNFR1 and c-MET receptors, inhibiting TNFR1-NFκB and cMET-pAKT signaling, reducing CXCL1 production, and thereby preventing MDSC recruitment and angiogenesis; GALNT3 also reduces β-catenin to suppress cancer stem cell self-renewal. Xenograft and syngeneic mouse models, GALNT3 KD/OE, TNFR1 and c-MET immunoprecipitation to confirm O-GalNAcylation, NFκB nuclear localization assay, flow cytometry for MDSCs Cancer letters Medium 34416337
2022 GALNT3 increases O-GalNAcylation of TNFR1, blocking NF-κB pathway activation and protecting vascular smooth muscle cells from calcification; GALNT3 overexpression reduces oxidative stress markers (Nox2, Nox4), pro-inflammatory cytokines, and MMP expression in high-phosphate conditions; VVL pull-down and TNFR1 immunoprecipitation confirm O-GalNAcylation of TNFR1. Adenovirus-mediated GALNT3 OE/KD in HASMCs, VVL lectin pull-down, TNFR1 immunoprecipitation, AAV-GALNT3 in calcified mice, Western blot for NF-κB signaling European journal of pharmacology Medium 36473594
2022 GALNT3 overexpression in vascular smooth muscle cells increases active full-length FGF23 levels and inhibits Wnt/β-catenin signaling and osteoblastic differentiation, protecting against high-phosphate-induced vascular calcification; LiCl (Wnt activator) reverses this protective effect. GALNT3 OE/KD in HASMCs, intact FGF23 measurement, Western blot for Wnt3a/β-catenin, Wnt pathway rescue with LiCl, AAV-GALNT3 in calcified mice Cellular signalling Medium 36162588
2024 GALNT3 O-glycosylates EGF receptor (EGFR) in renal proximal tubular cells; GALNT3 knockdown increases apoptosis during hypoxia/reoxygenation (H/R), while overexpression attenuates H/R-induced apoptosis; activation or overexpression of EGFR suppresses the pro-apoptotic effect of GALNT3 knockdown, placing O-glycosylation of EGFR downstream of GALNT3's cytoprotective mechanism in AKI. GALNT3 KD/OE in rat renal proximal tubular cells, H/R model, specific GALNT3 inhibitor (T3inh-1) in mice, EGFR overexpression rescue, apoptosis assay Journal of the American Society of Nephrology : JASN Medium 39446490
2024 Runx2 directly regulates Galnt3 transcriptional activity (confirmed by reporter assay), and overexpression/knockdown of Runx2 upregulates/downregulates Galnt3 and Fgf23 in osteoblasts; Galnt3-/- mice have ~40% of wild-type intact Fgf23 and show increased trabecular bone volume with reduced osteoid, indicating Galnt3 decelerates osteoid mineralization by stabilizing Fgf23. Runx2 OE/KD in osteoblasts, Galnt3 reporter assay, Runx2 conditional KO mice, Galnt3-/- mice, serum phosphorus/Fgf23 measurements, histomorphometry International journal of molecular sciences Medium 38396954
2025 GALNT3 O-glycosylates FGFR2 at Thr319 (and potentially Ser299); point mutation of Thr319 abolishes GALNT3-mediated FGFR2-MAPK signaling activation and lymphomagenesis in DLBCL, demonstrating that O-glycosylation at this site is indispensable for oncogenic FGFR2 signaling. Protein mass spectrometry (O-glycosylation site identification), site-directed mutagenesis of FGFR2 Thr319/Ser299, RNA-seq, in vitro and in vivo rescue experiments, pharmacological FGFR2 inhibition Cell communication and signaling : CCS Medium 41408565
2025 GALNT3 directly interacts with TREM2 in microglia and promotes O-GalNAc glycosylation of TREM2 predominantly at Ser147, enhancing TREM2 protein stability; GALNT3 overexpression inhibits microglial M1 polarization and neuroinflammation after cerebral ischemia-reperfusion injury, and TREM2 knockdown reverses this anti-inflammatory effect. tMCAO/R mouse model, OGD/R cell model, co-immunoprecipitation (GALNT3-TREM2 interaction), site-directed glycosylation analysis, TREM2 KD rescue, Western blot for TREM2 stability CNS neuroscience & therapeutics Medium 41814467
2026 Mutant GALNT3 (compound heterozygous p.Ile220Asn and p.Ser617*) causes severe defect in FGF23 O-glycosylation and impairs secretion of intact FGF23, confirmed by wheat germ agglutinin affinity chromatography showing glycosylated FGF23 only in medium of cells expressing wild-type GALNT3. Functional cell transfection assay, Western blot, wheat germ agglutinin (WGA) affinity chromatography to detect glycosylated FGF23 in conditioned medium vs. cell lysate International journal of molecular sciences Medium 41898628
2012 Inactive mutants of GALNT3, while correctly localized to the Golgi apparatus, alter the O-glycosylation pattern of expressing cells compared to wild-type GALNT3, confirming that catalytic activity (not just Golgi localization) is required for O-glycosylation function. Stable expression of catalytic-dead GALNT3 mutants in BEAS-2B cells, immunofluorescence for Golgi localization, glycosylation pattern analysis The Journal of veterinary medical science Low 22785053

Source papers

Stage 0 corpus · 100 papers · ranked by NIH iCite citations
Year Title Journal Citations PMID
2004 Mutations in GALNT3, encoding a protein involved in O-linked glycosylation, cause familial tumoral calcinosis. Nature genetics 432 15133511
2014 Dynamic regulation of FGF23 by Fam20C phosphorylation, GalNAc-T3 glycosylation, and furin proteolysis. Proceedings of the National Academy of Sciences of the United States of America 252 24706917
1996 cDNA cloning and expression of a novel human UDP-N-acetyl-alpha-D-galactosamine. Polypeptide N-acetylgalactosaminyltransferase, GalNAc-t3. The Journal of biological chemistry 201 8663203
1999 Food labeling: health claims; soy protein and coronary heart disease. Food and Drug Administration, HHS. Final rule. Federal register 166 11010706
2009 Ablation of the Galnt3 gene leads to low-circulating intact fibroblast growth factor 23 (Fgf23) concentrations and hyperphosphatemia despite increased Fgf23 expression. Endocrinology 130 19213845
2014 Recombinant FAdV-4 fiber-2 protein protects chickens against hepatitis-hydropericardium syndrome (HHS). Vaccine 123 24397897
2005 A novel GALNT3 mutation in a pseudoautosomal dominant form of tumoral calcinosis: evidence that the disorder is autosomal recessive. The Journal of clinical endocrinology and metabolism 103 15687324
2018 LINC01296/miR-26a/GALNT3 axis contributes to colorectal cancer progression by regulating O-glycosylated MUC1 via PI3K/AKT pathway. Journal of experimental & clinical cancer research : CR 102 30547804
2004 Identification of a recurrent mutation in GALNT3 demonstrates that hyperostosis-hyperphosphatemia syndrome and familial tumoral calcinosis are allelic disorders. Journal of molecular medicine (Berlin, Germany) 91 15599692
2010 Clinical variability of familial tumoral calcinosis caused by novel GALNT3 mutations. American journal of medical genetics. Part A 81 20358599
2011 Overexpression of GalNAc-transferase GalNAc-T3 promotes pancreatic cancer cell growth. Oncogene 75 21625220
2020 Molecular basis for fibroblast growth factor 23 O-glycosylation by GalNAc-T3. Nature chemical biology 65 31932717
2007 Novel GALNT3 mutations causing hyperostosis-hyperphosphatemia syndrome result in low intact fibroblast growth factor 23 concentrations. The Journal of clinical endocrinology and metabolism 59 17311862
2006 Tumoral calcinosis presenting with eyelid calcifications due to novel missense mutations in the glycosyl transferase domain of the GALNT3 gene. The Journal of clinical endocrinology and metabolism 58 16940445
2006 Hyperphosphatemic familial tumoral calcinosis caused by a mutation in GALNT3 in a European kindred. Journal of human genetics 56 16528452
2022 Management of Hyperosmolar Hyperglycaemic State (HHS) in Adults: An updated guideline from the Joint British Diabetes Societies (JBDS) for Inpatient Care Group. Diabetic medicine : a journal of the British Diabetic Association 53 36370077
2011 Miscellaneous non-inflammatory musculoskeletal conditions. Hyperphosphatemic familial tumoral calcinosis (FGF23, GALNT3 and αKlotho). Best practice & research. Clinical rheumatology 51 22142751
2018 Novel role of O-glycosyltransferases GALNT3 and B3GNT3 in the self-renewal of pancreatic cancer stem cells. BMC cancer 50 30466404
2006 Familial tumoral calcinosis and testicular microlithiasis associated with a new mutation of GALNT3 in a white family. Journal of clinical pathology 47 16567474
2015 Influenza A Virus-Induced Expression of a GalNAc Transferase, GALNT3, via MicroRNAs Is Required for Enhanced Viral Replication. Journal of virology 44 26637460
2008 A case of familial tumoral calcinosis/hyperostosis-hyperphosphatemia syndrome due to a compound heterozygous mutation in GALNT3 demonstrating new phenotypic features. Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA 42 18982401
2008 GALNT3, a gene associated with hyperphosphatemic familial tumoral calcinosis, is transcriptionally regulated by extracellular phosphate and modulates matrix metalloproteinase activity. Biochimica et biophysica acta 41 18976705
2014 Long-term clinical outcome and phenotypic variability in hyperphosphatemic familial tumoral calcinosis and hyperphosphatemic hyperostosis syndrome caused by a novel GALNT3 mutation; case report and review of the literature. BMC genetics 38 25249269
2021 GALNT3 suppresses lung cancer by inhibiting myeloid-derived suppressor cell infiltration and angiogenesis in a TNFR and c-MET pathway-dependent manner. Cancer letters 36 34416337
2020 miR-885-5p inhibits proliferation and metastasis by targeting IGF2BP1 and GALNT3 in human intrahepatic cholangiocarcinoma. Molecular carcinogenesis 36 33052627
2007 Two novel GALNT3 mutations in familial tumoral calcinosis. American journal of medical genetics. Part A 36 17853462
2004 Expression and production of llama variable heavy-chain antibody fragments (V(HH)s) by Aspergillus awamori. Applied microbiology and biotechnology 34 15378291
2019 GALNT3 Maintains the Epithelial State in Trophoblast Stem Cells. Cell reports 33 30917321
2012 Galnt3 deficiency disrupts acrosome formation and leads to oligoasthenoteratozoospermia. Histochemistry and cell biology 31 23052838
2022 Vaccination with a fowl adenovirus chimeric fiber protein (crecFib-4/11) simultaneously protects chickens against hepatitis-hydropericardium syndrome (HHS) and inclusion body hepatitis (IBH). Vaccine 30 35151506
2007 Two novel nonsense mutations in GALNT3 gene are responsible for familial tumoral calcinosis. Journal of human genetics 28 17351710
2009 Familial tumoral calcinosis and hyperostosis-hyperphosphataemia syndrome are different manifestations of the same disease: novel missense mutations in GALNT3. Skeletal radiology 27 19830424
2011 Novel mutations in GALNT3 causing hyperphosphatemic familial tumoral calcinosis. Journal of bone and mineral metabolism 25 21347749
2008 A novel missense mutation in GALNT3 causing hyperostosis-hyperphosphataemia syndrome. European journal of endocrinology 24 18322299
2014 Genetic rescue of glycosylation-deficient Fgf23 in the Galnt3 knockout mouse. Endocrinology 23 25051439
2017 Expression and characterization of a novel chitinase with antifungal activity from a rare actinomycete, Saccharothrix yanglingensis Hhs.015. Protein expression and purification 22 29107099
2015 Down regulation of GALNT3 contributes to endothelial cell injury via activation of p38 MAPK signaling pathway. Atherosclerosis 21 26714046
2021 LncRNA PSMA3-AS1 promotes cell proliferation, migration, and invasion in ovarian cancer by activating the PI3K/Akt pathway via the miR-378a-3p/GALNT3 axis. Environmental toxicology 20 34520102
2019 The polypeptide GALNT6 Displays Redundant Functions upon Suppression of its Closest Homolog GALNT3 in Mediating Aberrant O-Glycosylation, Associated with Ovarian Cancer Progression. International journal of molecular sciences 20 31071912
2018 A Novel Protein Elicitor BAR11 From Saccharothrix yanglingensis Hhs.015 Improves Plant Resistance to Pathogens and Interacts With Catalases as Targets. Frontiers in microbiology 20 29686663
2022 GALNT3 protects against vascular calcification by reducing oxidative stress and apoptosis of smooth muscle cells. European journal of pharmacology 19 36473594
2014 Overexpression of Galnt3 in chondrocytes resulted in dwarfism due to the increase of mucin-type O-glycans and reduction of glycosaminoglycans. The Journal of biological chemistry 19 25107907
2009 Newly discovered mutations in the GALNT3 gene causing autosomal recessive hyperostosis-hyperphosphatemia syndrome. Acta orthopaedica 19 19297793
2012 A mouse with an N-Ethyl-N-nitrosourea (ENU) Induced Trp589Arg Galnt3 mutation represents a model for hyperphosphataemic familial tumoural calcinosis. PloS one 18 22912827
2019 Loss of the disease-associated glycosyltransferase Galnt3 alters Muc10 glycosylation and the composition of the oral microbiome. The Journal of biological chemistry 17 31882545
2007 Expression of GalNAc-T3 and its relationships with clinicopathological factors in 61 extrahepatic bile duct carcinomas analyzed using stepwise sections - special reference to its association with lymph node metastases-. Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc 17 17361208
2014 Clinically significant missense variants in human GALNT3, GALNT8, GALNT12, and GALNT13 genes: intriguing in silico findings. Journal of cellular biochemistry 15 24038392
2008 Tumoral calcinosis due to GALNT3 C.516-2A >T mutation in a black African family. Genetic counseling (Geneva, Switzerland) 15 18618993
2019 Hyperphosphatemic Familial Tumoral Calcinosis With Galnt3 Mutation: Transient Response to Anti-Interleukin-1 Treatments. JBMR plus 14 31372591
2022 LINC02535/miR-30a-5p/GALNT3 axis contributes to lung adenocarcinoma progression via the NF- κ B signaling pathway. Cell cycle (Georgetown, Tex.) 13 35852407
2022 Local cellular immune response plays a key role in protecting chickens against hepatitis-hydropericardium syndrome (HHS) by vaccination with a recombinant fowl adenovirus (FAdV) chimeric fiber protein. Frontiers in immunology 13 36389772
2015 Human Preosteoblastic Cell Culture from a Patient with Severe Tumoral Calcinosis-Hyperphosphatemia Due to a New GALNT3 Gene Mutation: Study of In Vitro Mineralization. Calcified tissue international 13 25899975
2014 A new missense mutation in FGF23 gene in a male with hyperostosis-hyperphosphatemia syndrome (HHS). Gene 12 24680727
1986 Studies on the use of a novel affinity matrix, sepharose amine-succinyl-amine haloperidol hemisuccinate, ASA-HHS, for purification of canine dopamine (D2) receptor. Life sciences 12 3010025
2022 GALNT3 protects against phosphate-induced calcification in vascular smooth muscle cells by enhancing active FGF23 and inhibiting the wnt/β-catenin signaling pathway. Cellular signalling 11 36162588
2018 Genome-wide analysis of endogenously expressed ZEB2 binding sites reveals inverse correlations between ZEB2 and GalNAc-transferase GALNT3 in human tumors. Cellular oncology (Dordrecht, Netherlands) 11 29516288
2018 GALNT3 inhibits NF-κB signaling during influenza A virus infection. Biochemical and biophysical research communications 11 30100058
2016 Identification of two novel mutations in the GALNT3 gene in a Chinese family with hyperphosphatemic familial tumoral calcinosis. Bone research 11 27867679
2018 Expression of the O-Glycosylation Enzyme GalNAc-T3 in the Equatorial Segment Correlates with the Quality of Spermatozoa. International journal of molecular sciences 10 30262754
2022 Impact of Arterial Hypertension and Use of Antihypertensive Pharmacotherapy on Mortality in Patients Hospitalized due to COVID-19: The CRACoV-HHS Study. Hypertension (Dallas, Tex. : 1979) 9 36082666
2015 Root anomalies and dentin dysplasia in autosomal recessive hyperphosphatemic familial tumoral calcinosis (HFTC). Oral surgery, oral medicine, oral pathology and oral radiology 9 26337219
2014 Association of GALNT3 gene polymorphisms with bone mineral density in Chinese postmenopausal women: the Peking Vertebral Fracture study. Menopause (New York, N.Y.) 9 24045674
2024 Runx2 Regulates Galnt3 and Fgf23 Expressions and Galnt3 Decelerates Osteoid Mineralization by Stabilizing Fgf23. International journal of molecular sciences 8 38396954
2023 Cisplatin induces acute kidney injury by downregulating miR-30e-5p that targets Galnt3 to activate the AMPK signaling pathway. Environmental toxicology 8 38010663
2021 A novel homozygous variant in exon 10 of the GALNT3 gene causing hyperphosphatemic familial tumoral calcinosis in a family from North India. Intractable & rare diseases research 8 33614378
2020 Hyperphosphatemic familial tumoral calcinosis caused by a novel variant in the GALNT3 gene. Journal of endocrinological investigation 8 32125652
2018 Hyperphosphatemic Familial Tumoral Calcinosis in Two Siblings with a Novel Mutation in GALNT3 Gene: Experience from Southern Turkey. Journal of clinical research in pediatric endocrinology 8 30015621
2018 Transcriptome analysis of Valsa mali reveals its response mechanism to the biocontrol actinomycete Saccharothrix yanglingensis Hhs.015. BMC microbiology 8 30134836
2015 Phenotypic knockouts of selected metabolic pathways by targeting enzymes with camel-derived nanobodies (V(HH)s). Metabolic engineering 8 25887637
2019 Recessive mutation in GALNT3 causes hyperphosphatemic familial tumoral calcinosis associated with chronic recurrent multifocal osteomyelitis. The Turkish journal of pediatrics 7 31559735
1998 International Conference on Harmonisation; guidance on quality of biotechnological/biological products: derivation and characterization of cell substrates used for production of biotechnological/biological products; availability. Notice. Food and Drug Administration, HHS. Federal register 7 12269373
2022 Relationship between rs7586085, GALNT3 and CCDC170 gene polymorphisms and the risk of osteoporosis among the Chinese Han population. Scientific reports 6 35414641
2019 Correction to: LINC01296/miR-26a/GALNT3 axis contributes to colorectal cancer progression by regulating O-glycosylated MUC1 via PI3K/AKT pathway. Journal of experimental & clinical cancer research : CR 6 31431194
2016 Association of genetic polymorphisms of GALNT3 and VDR with osteoporosis in postmenopausal women. Experimental and therapeutic medicine 6 27698765
2018 Research on correlation between GALNT3 gene and osteoporosis. European review for medical and pharmacological sciences 5 30004557
2016 Study on Interactions between the Major Apple Valsa Canker Pathogen Valsa mali and Its Biocontrol Agent Saccharothrix yanglingensis Hhs.015 Using RT-qPCR. PloS one 5 27611855
2015 Hyperostosis-hyperphosphatemia syndrome (HHS): report of two cases with a recurrent mutation and review of the literature. Journal of pediatric endocrinology & metabolism : JPEM 5 25153226
2024 GALNT3 in Ischemia-Reperfusion Injury of the Kidney. Journal of the American Society of Nephrology : JASN 4 39446490
2023 A case of hyperphosphatemic familial tumoral calcinosis due to maternal uniparental disomy of a GALNT3 variant. Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology 4 37362161
2019 Correction to: LINC01296/miR-26a/GALNT3 axis contributes to colorectal cancer progression by regulating O-glycosylated MUC1 via PI3K/AKT pathway. Journal of experimental & clinical cancer research : CR 4 30935395
2017 Variant in GALNT3 Gene Linked with Reduced Coronary Artery Disease Risk in Chinese Population. DNA and cell biology 4 28453302
2000 IDDM7 links to insulin-dependent diabetes mellitus in Danish multiplex families but linkage is not explained by novel polymorphisms in the candidate gene GALNT3. The Danish Study Group of Diabetes in Childhood and The Danish IDDM Epidemiology and Genetics Group. Human mutation 4 10679951
2024 Downregulation of circ-RAPGEF5 inhibits colorectal cancer progression by reducing the expression of polypeptide N-acetylgalactosaminyltransferase 3 (GALNT3). Environmental toxicology 3 38775215
2025 Single-cell and spatial transcriptome analysis revealed cellular heterogeneity of glycosyltransferases in cervical cancer, and identified GALNT3-negative epithelial cells as a protective factor: a retrospective cohort study based on public database. International journal of surgery (London, England) 2 40387729
2023 Rare and Common Variants in GALNT3 May Affect Bone Mass Independently of Phosphate Metabolism. Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 2 36824040
2000 Revision of requirements applicable to albumin (human), plasma protein fraction (human), and immune globulin (human). Food and Drug Administration, HHS. Final rule. Federal register 2 11067735
2025 Galnt3, an enzyme engaged in protein glycosylation modification, is essential for the maintaining of intestinal health in zebrafish. Fish & shellfish immunology 1 40306380
2025 Identification of O-GalNAc-modified proteins interacting with GALNT3 using proximity labeling method. Carbohydrate research 1 40992072
2024 A GALNT3 mutation causing Hyperphosphatemic familial Tumoral calcinosis. Molecular genetics and metabolism reports 1 39185017
2024 GALNT3 Mutation in Hyperphosphatemic Familial Tumoral Calcinosis - Novel Etiology of Secondary Amyloidosis. Indian journal of nephrology 1 40060084
2012 Generation of human bronchial epithelial cell lines expressing inactive mutants of GALNT3. The Journal of veterinary medical science 1 22785053
2010 HHS guidance on synthetic DNA is the right step. Biosecurity and bioterrorism : biodefense strategy, practice, and science 1 21142764
2026 GALNT3 Inhibits the Progression of Cerebral Ischemia-Reperfusion Injury by Stabilizing TREM2 via O-GalNAc Glycosylation. CNS neuroscience & therapeutics 0 41814467
2026 Clinical and Functional Characterization of Novel GALNT3 Mutations in a Chinese Child with Hyperphosphatemic Familial Tumoral Calcinosis. International journal of molecular sciences 0 41898628
2026 Research progress in the role and mechanism of GALNT3 in human diseases (Review). Biomedical reports 0 41993969
2025 Establishment and Molecular Characterization of a Human Stem Cell Line from a Primary Cell Culture Obtained from an Ectopic Calcified Lesion of a Tumoral Calcinosis Patient Carrying a Novel GALNT3 Mutation. Genes 0 40149415
2025 GALNT3 is a novel target driving lymphomagenesis via O-glycosylation of FGFR2. Cell communication and signaling : CCS 0 41408565
2024 Type 1 Hyperphosphatemic Familial Tumoral Calcinosis Associated With a Homozygous Variant Mutation in the GALNT3 Gene. Cureus 0 39539886
2018 Effect of rosuvastatin on the expression of candidate gene GALNT3 in atherosclerosis. Experimental and therapeutic medicine 0 29805509
2011 [Prokaryotic expression and antibody preparation of human GALNT3-sol protein]. Xi bao yu fen zi mian yi xue za zhi = Chinese journal of cellular and molecular immunology 0 21968315

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