GALNT3 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 3 (GalNAc-T3) [Homo sapiens (human)] - Gene

Summary

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Official Symbol: GALNT3provided by HGNC
Official Full Name: UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 3 (GalNAc-T3)provided by HGNC
Primary source: 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]

Genomic context

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Location :: 2q24-q31

Sequence :: Chromosome: 2; NC_000002.11 (166604313..166650803, complement)

See GALNT3 in Epigenomics, MapViewer

Chromosome 2 - NC_000002.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

Bibliography

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GeneRIFs: Gene References Into Functions What's a GeneRIF?

a novel homozygous missense mutation affecting highly conserved amino acids in GALNT3 in patients with hyperphosphatemic familial tumoral calcinosis
Title: Novel mutations in GALNT3 causing hyperphosphatemic familial tumoral calcinosis.
GalNAc-T3 is likely involved in pancreatic carcinogenesis
Title: Overexpression of GalNAc-transferase GalNAc-T3 promotes pancreatic cancer cell growth.
GALNT3 is associted with bone mineral density variation.
Title: Genome-wide association study using extreme truncate selection identifies novel genes affecting bone mineral density and fracture risk.
Mutational analysis of FGF23 and GALNT3 in patients with hyperphosphatemia and clinical manifestations including tumoral calcinosis revealed novel homozygous mutations in GALNT3.
Title: Clinical variability of familial tumoral calcinosis caused by novel GALNT3 mutations.
The genetic predisposition to calcinosis and hyperostosis-hyperphosphataemia syndrome due to missense mutations in GALNT3 protein.
Title: Familial tumoral calcinosis and hyperostosis-hyperphosphataemia syndrome are different manifestations of the same disease: novel missense mutations in GALNT3.
Mutations in the UDP-N-acetyl-alpha-D-galactosamine: polypeptide N-acetylgalactosaminyltransferase-3 (GALNT3) and fibroblast growth factor-23 (FGF23) genes have been described in tumoral calcinosis.
Title: A novel recessive mutation of fibroblast growth factor-23 in tumoral calcinosis.
decreased GALNT3 expression in skin fibroblasts leads to increased expression of FGF7 and of matrix metalloproteinases, which have been previously implicated in the pathogenesis of ectopic calcification
Title: GALNT3, a gene associated with hyperphosphatemic familial tumoral calcinosis, is transcriptionally regulated by extracellular phosphate and modulates matrix metalloproteinase activity.
study identified a Beninese family in which two brothers present Familial Tumoral Calcinosis caused by a homozygous A>T transversion at the acceptor splice site in intron 1 of the GALNT3 gene
Title: Tumoral calcinosis due to GALNT3 C.516-2A >T mutation in a black African family.
we have detected novel GALNT3 mutations that result in familial TC, and show that disturbed serum FGF23 concentrations are present in our TC cases
Title: Two novel GALNT3 mutations in familial tumoral calcinosis.
the expression of GalNAc-T3 is associated with the differentiation and aggressiveness of ductal adenocarcinoma of the pancreas
Title: Expression of uridine diphosphate N-acetyl-alpha-D-galactosamine: polypeptide N-acetylgalactosaminyl transferase 3 in adenocarcinoma of the pancreas.

Submit: New GeneRIF Correction See all (19)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

NHGRI GWAS Catalog

Genome-wide association study using extreme truncate selection identifies novel genes affecting bone mineral density and fracture risk.

Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture.

Pathways from BioSystems

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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 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...

General gene information

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Markers

WI-16907 (e-PCR)
- UniSTS:33297

D2S1313 (e-PCR)
- UniSTS:15931

SHGC-53704 (e-PCR)
- UniSTS:57197

SHGC-132864 (e-PCR)
- UniSTS:170931

A004M14 (e-PCR)
- UniSTS:40628

D2S2384 (e-PCR)
- UniSTS:9422

Genotypes

See GALNT3 SNP Geneview Report
See GALNT3 SNP Genotype Report
See GALNT3 SNP Variation Viewer Report

Homology

Homologs of the GALNT3 gene: The GALNT3 gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, rat, and chicken.
Map Viewer (Mouse, Rat)
OrthoDB: The Hierarchical Catalog of Eukaryotic Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
calcium ion binding	IDA Inferred from Direct Assay more info	PubMed
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
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
cytoplasm	IDA Inferred from Direct Assay more info
integral to membrane	IEA Inferred from Electronic Annotation more info
membrane	TAS Traceable Author Statement more info	PubMed
nucleus	IDA Inferred from Direct Assay more info
perinuclear region of cytoplasm	IDA Inferred from Direct Assay more info	PubMed

General protein information

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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

NP_004473.2

EC 2.4.1.41

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

NG_012069.1 RefSeqGene

Range

5001..51491

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

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 (4) summary

cd00161
Location:507 – 629
Blast Score: 209

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 ...

COG0463
Location:183 – 479
Blast Score: 127

WcaA; Glycosyltransferases involved in cell wall biogenesis [Cell envelope biogenesis, outer membrane]

cd02510
Location:188 – 493
Blast Score: 1178

pp-GalNAc-T; pp-GalNAc-T initiates the formation of mucin-type O-linked glycans.

pfam00652
Location:505 – 627
Blast Score: 253

Ricin_B_lectin; Ricin-type beta-trefoil lectin domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 104

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

Reference GRCh37.p10 Primary Assembly

Genomic

NC_000002.11 Reference GRCh37.p10 Primary Assembly

Range

166604313..166650803, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000134.1 Alternate HuRef

Range

158486232..158532744, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.0

Genomic

NC_018913.1 Alternate CHM1_1.0

Range

166001314..166047804, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	ABBA01004921.1 (95388..116677)	None
genomic	ABBA01004922.1	None
genomic	AC009495.5	AAY14678.1
genomic	AMYH01011228.1 (66075..112565)	None
genomic	CH471058.2	EAX11323.1
		EAX11324.1
genomic	Y10345.1	None
mRNA	AJ505954.1	CAD44536.1
mRNA	AK307391.1	None
mRNA	AK313389.1	BAG36187.1
mRNA	BC056246.1	AAH56246.1
mRNA	BC113565.1	AAI13566.1
mRNA	BC113567.1	AAI13568.1
mRNA	BU567493.1	None
mRNA	BX094158.1	None
mRNA	BX647473.1	None
mRNA	DB098143.1	None
mRNA	DB727693.1	None
mRNA	X92689.1	CAA63371.1
other-genetic	HQ258332.1	ADR83086.1