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

    Gene ID: 2591, updated on 23-Nov-2023

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See GALNT3 in Genome Data Viewer
    Location:
    2q24.3
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (165747588..165794692, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (166204962..166251751, complement)
    105.20220307 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

    Expression

    • Project title: 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC61909, DKFZp686C10199

    Gene Ontology Provided by GOA

    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

    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)

    NEW Try the new Transcript table

    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_004482.4NP_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:188493
      pp-GalNAc-T; pp-GalNAc-T initiates the formation of mucin-type O-linked glycans
      pfam00652
      Location:506627
      Ricin_B_lectin; Ricin-type beta-trefoil lectin domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    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_011510929.2XP_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
      Conserved Domains (2) summary
      cd02510
      Location:188493
      pp-GalNAc-T; pp-GalNAc-T initiates the formation of mucin-type O-linked glycans
      pfam00652
      Location:506627
      Ricin_B_lectin; Ricin-type beta-trefoil lectin domain
    2. XM_017003770.2XP_016859259.1  polypeptide N-acetylgalactosaminyltransferase 3 isoform X1

      UniProtKB/Swiss-Prot
      Q14435, Q53TG9, Q7Z476
      UniProtKB/TrEMBL
      B2R8J0
      Conserved Domains (2) summary
      cd02510
      Location:188493
      pp-GalNAc-T; pp-GalNAc-T initiates the formation of mucin-type O-linked glycans
      pfam00652
      Location:506627
      Ricin_B_lectin; Ricin-type beta-trefoil lectin domain
    3. XM_005246449.2XP_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:188493
      pp-GalNAc-T; pp-GalNAc-T initiates the formation of mucin-type O-linked glycans
      pfam00652
      Location:506627
      Ricin_B_lectin; Ricin-type beta-trefoil lectin domain
    4. XM_047443883.1XP_047299839.1  polypeptide N-acetylgalactosaminyltransferase 3 isoform X2

      UniProtKB/TrEMBL
      C9J2C3
      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)