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

Gene ID: 2591, updated on 3-Nov-2024

Summary

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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
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Genomic context

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See GALNT3 in Genome Data Viewer
Location:
2q24.3
Exon count:
13
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (165747588..165794692, complement)
RS_2024_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_000002.12Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 13511 Neighboring gene sodium voltage-gated channel alpha subunit 2 Neighboring gene MAPRE1 pseudogene 3 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr2:166279515-166280129 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:166283004-166283939 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr2:166317128-166318327 Neighboring gene cysteine and serine rich nuclear protein 3 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:166385525-166386157 Neighboring gene MPRA-validated peak3912 silencer Neighboring gene NANOG hESC enhancer GRCh37_chr2:166436961-166437478 Neighboring gene NANOG hESC enhancer GRCh37_chr2:166437479-166437996 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16726 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16727 Neighboring gene uncharacterized LOC124906085 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:166491566-166492144 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:166490986-166491565 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr2:166564017-166564558 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:166565101-166565640 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:166593391-166593948 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:166649507-166650413 Neighboring gene uncharacterized LOC124906086 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:166650414-166651319 Neighboring gene NANOG hESC enhancer GRCh37_chr2:166700603-166701418 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:166710405-166710906 Neighboring gene uncharacterized LOC100506124 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16728 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16729 Neighboring gene tetratricopeptide repeat domain 21B Neighboring gene TTC21B antisense RNA 1

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Familial tumoral calcinosis and hyperostosis-hyperphosphataemia syndrome are different manifestations of the same disease: novel missense mutations in GALNT3. Joseph L, et al. Skeletal Radiol, 2010 Jan. PMID 19830424
  2. Expression of the O-Glycosylation Enzyme GalNAc-T3 in the Equatorial Segment Correlates with the Quality of Spermatozoa. Nygaard MB, et al. Int J Mol Sci, 2018 Sep 27. PMID 30262754, Free PMC Article
  3. Hyperphosphatemic Familial Tumoral Calcinosis in Two Siblings with a Novel Mutation in GALNT3 Gene: Experience from Southern Turkey. Kışla Ekinci RM, et al. J Clin Res Pediatr Endocrinol, 2019 Feb 20. PMID 30015621, Free PMC Article
  4. 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-. Inoue T, et al. Mod Pathol, 2007 Feb. PMID 17361208
  5. Two novel GALNT3 mutations in familial tumoral calcinosis. Garringer HJ, et al. Am J Med Genet A, 2007 Oct 15. PMID 17853462

See all (83) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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).
  2. 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.
  3. 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.
  4. 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.
  5. 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.
  6. 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.
  7. 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.
  8. 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.
  9. 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).
  10. 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

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
Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture.
EBI GWAS Catalog
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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC61909, DKFZp686C10199

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 manganese ion binding IDA
Inferred from Direct Assay
more info
 PubMed 
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 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
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in O-glycan processing TAS
Traceable Author Statement
more info
  
involved_in carbohydrate metabolic process NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in fibroblast growth factor receptor signaling pathway TAS
Traceable Author Statement
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 IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in protein O-linked glycosylation via serine IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in protein O-linked glycosylation via threonine IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in 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 cisterna membrane IEA
Inferred from Electronic Annotation
more info
  
located_in Golgi membrane TAS
Traceable Author Statement
more info
  
located_in extracellular exosome HDA PubMed 
located_in membrane TAS
Traceable Author Statement
more info
 PubMed 
located_in perinuclear region of cytoplasm IDA
Inferred from Direct Assay
more info
 PubMed 

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
XP_005246506.1
XP_011509231.1
XP_016859259.1
XP_047299839.1

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

  1. NG_012069.1 RefSeqGene

    Range
    5047..51706
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. 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_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

    Range
    165747588..165794692 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. 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
    ENSP00000520447.1, ENST00000715282.1
    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

  2. XM_017003770.2 → XP_016859259.1  polypeptide N-acetylgalactosaminyltransferase 3 isoform X1

    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

  3. 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

  4. XM_047443883.1 → XP_047299839.1  polypeptide N-acetylgalactosaminyltransferase 3 isoform X2

    Related
    ENSP00000412643.1, ENST00000412248.5

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    166204962..166251751 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q14435.2 GenPept UniProtKB/Swiss-Prot:Q14435

Gene LinkOut

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