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

Gene ID: 2591, updated on 16-Jul-2016
Official Symbol
GALNT3provided by HGNC
Official Full Name
polypeptide N-acetylgalactosaminyltransferase 3provided by HGNC
Primary source
HGNC:HGNC:4125
See related
Ensembl:ENSG00000115339 HPRD:03453; 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]
Orthologs
Location:
2q24-q31
Exon count:
13
Annotation release Status Assembly Chr Location
108 current GRCh38.p7 (GCF_000001405.33) 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

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 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 IDA
Inferred from Direct Assay
more info
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

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, OTTHUMP00000163020, ENST00000392701, OTTHUMT00000255205
    Conserved Domains (3) summary
    cd02510
    Location:188493
    pp-GalNAc-T; pp-GalNAc-T initiates the formation of mucin-type O-linked glycans
    cd00161
    Location:507629
    RICIN; Ricin-type beta-trefoil; Carbohydrate-binding domain formed from presumed gene triplication. The domain is found in a variety of molecules serving diverse functions such as enzymatic activity, inhibitory toxicity and signal transduction. Highly specific ...
    pfam00652
    Location:506627
    Ricin_B_lectin; Ricin-type beta-trefoil lectin domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...

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

Reference GRCh38.p7 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p7 Primary Assembly

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

mRNA and Protein(s)

  1. XM_017003770.1XP_016859259.1  

    Conserved Domains (3) summary
    cd02510
    Location:188493
    pp-GalNAc-T; pp-GalNAc-T initiates the formation of mucin-type O-linked glycans
    cd00161
    Location:507629
    RICIN; Ricin-type beta-trefoil; Carbohydrate-binding domain formed from presumed gene triplication. The domain is found in a variety of molecules serving diverse functions such as enzymatic activity, inhibitory toxicity and signal transduction. Highly specific ...
    pfam00652
    Location:506627
    Ricin_B_lectin; Ricin-type beta-trefoil lectin domain
  2. XM_011510929.1XP_011509231.1  

    See identical proteins and their annotated locations for XP_011509231.1

    UniProtKB/Swiss-Prot
    Q14435
    Conserved Domains (3) summary
    cd02510
    Location:188493
    pp-GalNAc-T; pp-GalNAc-T initiates the formation of mucin-type O-linked glycans
    cd00161
    Location:507629
    RICIN; Ricin-type beta-trefoil; Carbohydrate-binding domain formed from presumed gene triplication. The domain is found in a variety of molecules serving diverse functions such as enzymatic activity, inhibitory toxicity and signal transduction. Highly specific ...
    pfam00652
    Location:506627
    Ricin_B_lectin; Ricin-type beta-trefoil lectin domain
  3. XM_005246449.1XP_005246506.1  

    See identical proteins and their annotated locations for XP_005246506.1

    UniProtKB/Swiss-Prot
    Q14435
    Conserved Domains (3) summary
    cd02510
    Location:188493
    pp-GalNAc-T; pp-GalNAc-T initiates the formation of mucin-type O-linked glycans
    cd00161
    Location:507629
    RICIN; Ricin-type beta-trefoil; Carbohydrate-binding domain formed from presumed gene triplication. The domain is found in a variety of molecules serving diverse functions such as enzymatic activity, inhibitory toxicity and signal transduction. Highly specific ...
    pfam00652
    Location:506627
    Ricin_B_lectin; Ricin-type beta-trefoil lectin domain

Alternate CHM1_1.1

Genomic

  1. NC_018913.2 Alternate CHM1_1.1

    Range
    166610616..166657104 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)