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

    Gene ID: 2591, updated on 23-May-2018
    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; Vega:OTTHUMG00000132157
    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; 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
    See GALNT3 in Genome Data Viewer
    Location:
    2q24.3
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 2 NC_000002.12 (165747803..165796352, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (166604313..166650803, complement)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene sodium voltage-gated channel alpha subunit 2 Neighboring gene MAPRE1 pseudogene 3 Neighboring gene cysteine and serine rich nuclear protein 3 Neighboring gene uncharacterized LOC105373730 Neighboring gene uncharacterized LOC100506124

    • 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 Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    NHGRI GWAS Catalog

    Description
    Genome-wide association study using extreme truncate selection identifies novel genes affecting bone mineral density and fracture risk.
    NHGRI GWA Catalog
    Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture.
    NHGRI GWA 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.
    NHGRI GWA Catalog
    • FGFR3 ligand binding and activation, organism-specific biosystem (from REACTOME)
      FGFR3 ligand binding and activation, organism-specific biosystemFGFR3 is a receptor tyrosine kinase of the FGF receptor family, known to have a negative regulatory effect on long bone growth. Somatically, some of the same activating mutations are associated with ...
    • FGFR3c ligand binding and activation, organism-specific biosystem (from REACTOME)
      FGFR3c ligand binding and activation, organism-specific biosystemThis pathway depicts the binding of an experimentally-verified range of ligands to FGFR3c. While binding affinities may vary considerably within this set, the ligands listed have been established to ...
    • Metabolic pathways, organism-specific biosystem (from KEGG)
      Metabolic pathways, organism-specific biosystem
      Metabolic pathways
    • Metabolism of proteins, organism-specific biosystem (from REACTOME)
      Metabolism of proteins, organism-specific biosystemProtein metabolism comprises the pathways of translation, post-translational modification and protein folding.
    • Mucin type O-glycan biosynthesis, organism-specific biosystem (from KEGG)
      Mucin type O-glycan biosynthesis, organism-specific biosystemO-glycans are a class of glycans that modify serine or threonine residues of proteins. Biosynthesis of O-glycans starts from the transfer of N-acetylgalactosamine (GalNAc) to serine or threonine. The...
    • Mucin type O-glycan biosynthesis, conserved biosystem (from KEGG)
      Mucin type O-glycan biosynthesis, conserved biosystemO-glycans are a class of glycans that modify serine or threonine residues of proteins. Biosynthesis of O-glycans starts from the transfer of N-acetylgalactosamine (GalNAc) to serine or threonine. The...
    • O-glycan biosynthesis, mucin type core, organism-specific biosystem (from KEGG)
      O-glycan biosynthesis, mucin type core, organism-specific biosystemPathway module; Carbohydrate and lipid metabolism; Glycan metabolism
    • O-glycan biosynthesis, mucin type core, conserved biosystem (from KEGG)
      O-glycan biosynthesis, mucin type core, conserved biosystemPathway module; Carbohydrate and lipid metabolism; Glycan metabolism
    • O-linked glycosylation, organism-specific biosystem (from REACTOME)
      O-linked glycosylation, organism-specific biosystemO-glycosylation is an important post-translational modification (PTM) required for correct functioning of many proteins (Van den Steen et al. 1998, Moremen et al. 2012). The O-glycosylation of protei...
    • O-linked glycosylation of mucins, organism-specific biosystem (from REACTOME)
      O-linked glycosylation of mucins, organism-specific biosystemMucins are a family of high molecular weight, heavily glycosylated proteins (glycoconjugates) produced by epithelial tissues in most metazoa. Mucins' key characteristic is their ability to form gels...
    • Post-translational protein modification, organism-specific biosystem (from REACTOME)
      Post-translational protein modification, organism-specific biosystemAfter translation, many newly formed proteins undergo further covalent modifications that alter their functional properties and that are essentially irreversible under physiological conditions in the...
    • Signal Transduction, organism-specific biosystem (from REACTOME)
      Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
    • Signaling by FGFR, organism-specific biosystem (from REACTOME)
      Signaling by FGFR, organism-specific biosystemThe 22 members of the fibroblast growth factor (FGF) family of growth factors mediate their cellular responses by binding to and activating the different isoforms encoded by the four receptor tyrosin...
    • Signaling by FGFR3, organism-specific biosystem (from REACTOME)
      Signaling by FGFR3, organism-specific biosystemThe 22 members of the fibroblast growth factor (FGF) family of growth factors mediate their cellular responses by binding to and activating the different isoforms encoded by the four receptor tyrosin...
    • mucin core 1 and core 2 O-glycosylation, organism-specific biosystem (from BIOCYC)
      mucin core 1 and core 2 O-glycosylation, organism-specific biosystemGeneral Background Glycosylation is one of the major types of post-translational modification of proteins, and is an essential process in all eukaryotes. Protein glycosylation is known to be involve...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • MGC61909, DKFZp686C10199

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    calcium ion binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    carbohydrate binding IEA
    Inferred from Electronic Annotation
    more info
     
    manganese ion binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    polypeptide N-acetylgalactosaminyltransferase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    polypeptide N-acetylgalactosaminyltransferase activity TAS
    Traceable Author Statement
    more info
     
    Process Evidence Code Pubs
    O-glycan processing TAS
    Traceable Author Statement
    more info
     
    carbohydrate metabolic process NAS
    Non-traceable Author Statement
    more info
    PubMed 
    fibroblast growth factor receptor signaling pathway TAS
    Traceable Author Statement
    more info
     
    protein O-linked glycosylation via serine IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein O-linked glycosylation via threonine IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    Golgi apparatus IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    Golgi apparatus IDA
    Inferred from Direct Assay
    more info
     
    colocalizes_with Golgi apparatus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Golgi cisterna membrane IEA
    Inferred from Electronic Annotation
    more info
     
    Golgi membrane TAS
    Traceable Author Statement
    more info
     
    extracellular exosome HDA PubMed 
    integral component of membrane IEA
    Inferred from Electronic Annotation
    more info
     
    membrane TAS
    Traceable Author Statement
    more info
    PubMed 
    perinuclear region of cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    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

    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
      5001..51491
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_004482.3NP_004473.2  polypeptide N-acetylgalactosaminyltransferase 3

      See identical proteins and their annotated locations for NP_004473.2

      Status: REVIEWED

      Source sequence(s)
      BC113565, BU567493, BX094158, DB098143, DB727693
      Consensus CDS
      CCDS2226.1
      UniProtKB/Swiss-Prot
      Q14435
      Related
      ENSP00000376465.3, OTTHUMP00000163020, ENST00000392701.7, OTTHUMT00000255205
      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: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p12 Primary Assembly

      Range
      165747803..165796352 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

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

      UniProtKB/Swiss-Prot
      Q14435
      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_011510929.1XP_011509231.1  polypeptide N-acetylgalactosaminyltransferase 3 isoform X1

      See identical proteins and their annotated locations for XP_011509231.1

      UniProtKB/Swiss-Prot
      Q14435
      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_005246449.1XP_005246506.1  polypeptide N-acetylgalactosaminyltransferase 3 isoform X1

      See identical proteins and their annotated locations for XP_005246506.1

      UniProtKB/Swiss-Prot
      Q14435
      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

    RNA

    1. XR_002959253.1 RNA Sequence

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