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

Gene ID: 2591, updated on 8-Jul-2021

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
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
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Genomic context

See GALNT3 in Genome Data Viewer
Location:
2q24.3
Exon count:
13
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (165747588..165796352, complement)
105.20201022 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 cysteine and serine rich nuclear protein 3 Neighboring gene uncharacterized LOC105373730 Neighboring gene uncharacterized LOC100506124

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

Associated conditions

Description Tests
Genome-wide association study using extreme truncate selection identifies novel genes affecting bone mineral density and fracture risk.
GeneReviews: Not available
Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture.
GeneReviews: Not available
Hyperphosphatemic familial tumoral calcinosis 1 Compare labs
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.
GeneReviews: Not available

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

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
PubMed 
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 integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
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

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_004482.4NP_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
    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: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

    Range
    165747588..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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