GALNT3 polypeptide N-acetylgalactosaminyltransferase 3 [Homo sapiens (human)] - Gene

Summary

Official Symbol: GALNT3provided by HGNC
Official Full Name: polypeptide N-acetylgalactosaminyltransferase 3provided by HGNC
Primary source: HGNC:HGNC:4125
See related: Ensembl:ENSG00000115339 MIM:601756; AllianceGenome:HGNC:4125
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: HHS; HFTC; HFTC1; GalNAc-T3
Summary: This gene encodes UDP-GalNAc transferase 3, a member of the GalNAc-transferases family. This family transfers an N-acetyl galactosamine to the hydroxyl group of a serine or threonine residue in the first step of O-linked oligosaccharide biosynthesis. Individual GalNAc-transferases have distinct activities and initiation of O-glycosylation is regulated by a repertoire of GalNAc-transferases. The protein encoded by this gene is highly homologous to other family members, however the enzymes have different substrate specificities. [provided by RefSeq, Jul 2008]
Expression: Broad expression in stomach (RPKM 20.1), colon (RPKM 15.8) and 19 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 2q24.3

Exon count:: 13

Annotation release	Status	Assembly	Chr	Location
RS_2025_08	current	GRCh38.p14 (GCF_000001405.40)	2	NC_000002.12 (165747588..165794692, complement)
RS_2025_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	2	NC_060926.1 (166204962..166251751, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	2	NC_000002.11 (166604098..166650757, complement)

Chromosome 2 - NC_000002.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Downregulation of circ-RAPGEF5 inhibits colorectal cancer progression by reducing the expression of polypeptide N-acetylgalactosaminyltransferase 3 (GALNT3).
Title: Downregulation of circ-RAPGEF5 inhibits colorectal cancer progression by reducing the expression of polypeptide N-acetylgalactosaminyltransferase 3 (GALNT3).
GALNT3 protects against phosphate-induced calcification in vascular smooth muscle cells by enhancing active FGF23 and inhibiting the wnt/beta-catenin signaling pathway.
Title: GALNT3 protects against phosphate-induced calcification in vascular smooth muscle cells by enhancing active FGF23 and inhibiting the wnt/β-catenin signaling pathway.
The EMT-Related Genes GALNT3 and OAS1 are Associated with Immune Cell Infiltration and Poor Prognosis in Lung Adenocarcinoma.
Title: The EMT-Related Genes GALNT3 and OAS1 are Associated with Immune Cell Infiltration and Poor Prognosis in Lung Adenocarcinoma.
Polypeptide N-acetylgalactosamine transferase 3: a post-translational writer on human health.
Title: Polypeptide N-acetylgalactosamine transferase 3: a post-translational writer on human health.
Relationship between rs7586085, GALNT3 and CCDC170 gene polymorphisms and the risk of osteoporosis among the Chinese Han population.
Title: Relationship between rs7586085, GALNT3 and CCDC170 gene polymorphisms and the risk of osteoporosis among the Chinese Han population.
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.
Title: 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.
Hyperphosphatemic familial tumoral calcinosis caused by a novel variant in the GALNT3 gene.
Title: Hyperphosphatemic familial tumoral calcinosis caused by a novel variant in the GALNT3 gene.
miR-885-5p inhibits proliferation and metastasis by targeting IGF2BP1 and GALNT3 in human intrahepatic cholangiocarcinoma.
Title: miR-885-5p inhibits proliferation and metastasis by targeting IGF2BP1 and GALNT3 in human intrahepatic cholangiocarcinoma.
GalNAc-T3 and MUC1, a combined predictor of prognosis and recurrence in solitary pulmonary adenocarcinoma initially diagnosed as malignant solitary pulmonary nodule (</= 3 cm).
Title: GalNAc-T3 and MUC1, a combined predictor of prognosis and recurrence in solitary pulmonary adenocarcinoma initially diagnosed as malignant solitary pulmonary nodule (≤ 3 cm).
Loss of GALNT3 in trophoblast stem cells and mammary epithelial cells induces epithelial mesenchymal transition. GALNT3 promotes O-GalNAc modification and cell surface localization of E-cadherin.
Title: GALNT3 Maintains the Epithelial State in Trophoblast Stem Cells.

Submit: New GeneRIF Correction See all GeneRIFs (53)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Desbuquois dysplasia 2 MedGen: C4014294 OMIM: 615777 GeneReviews: Not available	Compare labs
Tumoral calcinosis, hyperphosphatemic, familial, 1 MedGen: C4692564 OMIM: 211900 GeneReviews: Hyperphosphatemic Familial Tumoral Calcinosis	Compare labs

EBI GWAS Catalog

Description
Genome-wide association study using extreme truncate selection identifies novel genes affecting bone mineral density and fracture risk. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture. EBI GWAS Catalog EBI GWAS CatalogPubMed
Phenotypic dissection of bone mineral density reveals skeletal site specificity and facilitates the identification of novel loci in the genetic regulation of bone mass attainment. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

WI-16907 (e-PCR)
- UniSTS:33297

D2S1313 (e-PCR)
- UniSTS:15931

SHGC-53704 (e-PCR)
- UniSTS:57197

SHGC-132864 (e-PCR)
- UniSTS:170931

A004M14 (e-PCR)
- UniSTS:40628

D2S2384 (e-PCR)
- UniSTS:9422

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables calcium ion binding	IDA Inferred from Direct Assay more info	PubMed
enables carbohydrate binding	IEA Inferred from Electronic Annotation more info
enables glycosyltransferase activity	IEA Inferred from Electronic Annotation more info
enables manganese ion binding	IDA Inferred from Direct Assay more info	PubMed
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables polypeptide N-acetylgalactosaminyltransferase activity	IBA Inferred from Biological aspect of Ancestor more info
enables polypeptide N-acetylgalactosaminyltransferase activity	IDA Inferred from Direct Assay more info	PubMed
enables polypeptide N-acetylgalactosaminyltransferase activity	IEA Inferred from Electronic Annotation more info
enables polypeptide N-acetylgalactosaminyltransferase activity	IGI Inferred from Genetic Interaction more info	PubMed
enables polypeptide N-acetylgalactosaminyltransferase activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables polypeptide N-acetylgalactosaminyltransferase activity	TAS Traceable Author Statement more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables transferase activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in carbohydrate metabolic process	NAS Non-traceable Author Statement more info	PubMed
acts_upstream_of_or_within cell maturation	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within chondrocyte development	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within chondroitin sulfate proteoglycan biosynthetic process	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within endochondral ossification	IEA Inferred from Electronic Annotation more info
involved_in fibroblast growth factor receptor signaling pathway	TAS Traceable Author Statement more info
acts_upstream_of_or_within gene expression	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within limb development	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within multicellular organism growth	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within polysaccharide metabolic process	IEA Inferred from Electronic Annotation more info
involved_in protein O-linked glycosylation	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein O-linked glycosylation	IDA Inferred from Direct Assay more info	PubMed
involved_in protein O-linked glycosylation	IEA Inferred from Electronic Annotation more info
involved_in protein O-linked glycosylation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein O-linked glycosylation via N-acetyl-galactosamine	IEA Inferred from Electronic Annotation more info
involved_in protein O-linked glycosylation via N-acetyl-galactosamine	TAS Traceable Author Statement more info
involved_in protein glycosylation	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within spermatogenesis	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
is_active_in Golgi apparatus	IBA Inferred from Biological aspect of Ancestor more info
colocalizes_with Golgi apparatus	IDA Inferred from Direct Assay more info	PubMed
located_in Golgi apparatus	IDA Inferred from Direct Assay more info
located_in Golgi apparatus	IEA Inferred from Electronic Annotation more info
located_in Golgi cisterna membrane	IEA Inferred from Electronic Annotation more info
located_in Golgi membrane	TAS Traceable Author Statement more info
located_in extracellular exosome	HDA more info	PubMed
located_in membrane	IEA Inferred from Electronic Annotation more info
located_in membrane	TAS Traceable Author Statement more info	PubMed
located_in perinuclear region of cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in perinuclear region of cytoplasm	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: polypeptide N-acetylgalactosaminyltransferase 3

Names: GalNAc transferase 3; UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase 3; UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 3 (GalNAc-T3); polypeptide GalNAc transferase 3; polypeptide GalNAc-transferase T3; pp-GaNTase 3; protein-UDP acetylgalactosaminyltransferase 3

NP_004473.2

EC 2.4.1.41

XP_005246506.1

EC 2.4.1.41

XP_011509231.1

EC 2.4.1.41

XP_016859259.1

EC 2.4.1.41

XP_047299839.1

EC 2.4.1.41

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_012069.1 RefSeqGene

Range

5047..51706

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_004482.4 → NP_004473.2 polypeptide N-acetylgalactosaminyltransferase 3

See identical proteins and their annotated locations for NP_004473.2

Status: REVIEWED

Source sequence(s)

AC009495, BC113565, BU567493, BX094158, DB098143

Consensus CDS

CCDS2226.1

UniProtKB/Swiss-Prot

Q14435, Q53TG9, Q7Z476

UniProtKB/TrEMBL

B2R8J0

Related

ENSP00000376465.3, ENST00000392701.8

Conserved Domains (2) summary

cd02510
Location:188 → 493

pp-GalNAc-T; pp-GalNAc-T initiates the formation of mucin-type O-linked glycans

pfam00652
Location:506 → 627

Ricin_B_lectin; Ricin-type beta-trefoil lectin domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2025_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000002.12 Reference GRCh38.p14 Primary Assembly

Range

165747588..165794692 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011510929.2 → XP_011509231.1 polypeptide N-acetylgalactosaminyltransferase 3 isoform X1

See identical proteins and their annotated locations for XP_011509231.1

UniProtKB/Swiss-Prot

Q14435, Q53TG9, Q7Z476

UniProtKB/TrEMBL

B2R8J0

Related

ENSP00000572777.1, ENST00000902718.1

Conserved Domains (2) summary

cd02510
Location:188 → 493

pp-GalNAc-T; pp-GalNAc-T initiates the formation of mucin-type O-linked glycans

pfam00652
Location:506 → 627

Ricin_B_lectin; Ricin-type beta-trefoil lectin domain
XM_017003770.2 → XP_016859259.1 polypeptide N-acetylgalactosaminyltransferase 3 isoform X1

UniProtKB/Swiss-Prot

Q14435, Q53TG9, Q7Z476

UniProtKB/TrEMBL

B2R8J0

Related

ENSP00000586881.1, ENST00000916822.1

Conserved Domains (2) summary

cd02510
Location:188 → 493

pp-GalNAc-T; pp-GalNAc-T initiates the formation of mucin-type O-linked glycans

pfam00652
Location:506 → 627

Ricin_B_lectin; Ricin-type beta-trefoil lectin domain
XM_005246449.2 → XP_005246506.1 polypeptide N-acetylgalactosaminyltransferase 3 isoform X1

See identical proteins and their annotated locations for XP_005246506.1

UniProtKB/Swiss-Prot

Q14435, Q53TG9, Q7Z476

UniProtKB/TrEMBL

B2R8J0

Conserved Domains (2) summary

cd02510
Location:188 → 493

pp-GalNAc-T; pp-GalNAc-T initiates the formation of mucin-type O-linked glycans

pfam00652
Location:506 → 627

Ricin_B_lectin; Ricin-type beta-trefoil lectin domain
XM_047443883.1 → XP_047299839.1 polypeptide N-acetylgalactosaminyltransferase 3 isoform X2

UniProtKB/TrEMBL

C9J2C3

Related

ENSP00000412643.1, ENST00000412248.5