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

    Gene ID: 2591, updated on 14-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
    mouse all
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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)

    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
    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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