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

Gene ID: 2591, updated on 19-Dec-2014
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]
See GALNT3 in Epigenomics, MapViewer
Location:
2q24-q31
Exon count:
12
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 2 NC_000002.12 (165747803..165794293, 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 channel, voltage-gated, type II, alpha subunit Neighboring gene MAPRE1 pseudogene 3 Neighboring gene cysteine-serine-rich nuclear protein 3 Neighboring gene uncharacterized LOC102724230 Neighboring gene uncharacterized LOC100506124 Neighboring gene tetratricopeptide repeat domain 21B Neighboring gene TTC21B antisense RNA 1

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
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 
Process Evidence Code Pubs
O-glycan processing TAS
Traceable Author Statement
more info
 
carbohydrate metabolic process NAS
Non-traceable Author Statement
more info
PubMed 
cellular protein metabolic process TAS
Traceable Author Statement
more info
 
post-translational protein modification 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
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 vesicular 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
polypeptide N-acetylgalactosaminyltransferase 3
pp-GaNTase 3
GalNAc transferase 3
polypeptide GalNAc transferase 3
polypeptide GalNAc-transferase T3
protein-UDP acetylgalactosaminyltransferase 3
UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase 3
UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 3 (GalNAc-T3)
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 

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

mRNA and Protein(s)

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

    See proteins identical to 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:505627
    Ricin_B_lectin; Ricin-type beta-trefoil lectin domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000002.12 

    Range
    165747803..165794293
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005246449.1XP_005246506.1  

    See proteins identical to 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:505627
    Ricin_B_lectin; Ricin-type beta-trefoil lectin domain
  2. XM_006712402.1XP_006712465.1  

    Conserved Domains (1) summary
    cl11394
    Location:188397
    Glyco_tranf_GTA_type; Glycosyltransferase family A (GT-A) includes diverse families of glycosyl transferases with a common GT-A type structural fold

Alternate CHM1_1.1

Genomic

  1. NC_018913.2 

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

Alternate HuRef

Genomic

  1. AC_000134.1 

    Range
    158486232..158532744
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)