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polypeptide N-acetylgalactosaminyltransferase 3

Summary

Gene Symbol

GALNT3

Aliases

GalNAc-T3
HFTC
HHS
polypeptide GalNAc transferase 3

Organism

Homo sapiens (human)

External Links

NCBI Gene

2591

GGDB ID

gg089

HGNC

4125

mRNA

NM_004482

map

2q24-q31

Protein

NP_004473

OMIM

601756

KEGG Gene ID

hsa:2591

PubChem

2591

Alliance of Genome Resources

HGNC:4125

Annotation

Keyword

Alternative splicing
Disease variant
Disulfide bond
Glycoprotein
Glycosyltransferase
Golgi apparatus
Lectin
Manganese
Metal-binding
Reference proteome
Signal-anchor
Transmembrane helix

Proteins

Displaying 1 entry
UniProt	Protein Name
Q14435	Polypeptide GalNAc transferase 3 Protein-UDP acetylgalactosaminyltransferase 3 UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase 3

Annotation information from UniProt.

Gene Ontology (GO)

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GO Term	Evidence Code	PMID
endochondral ossification	IEA
chondrocyte development	IEA
carbohydrate metabolic process	NAS	9592121
polysaccharide metabolic process	IEA
protein O-linked glycosylation	IDA	8663203

GO Hierarchy

biological process

metabolic process [inference]

nitrogen compound metabolic process [inference]

organonitrogen compound metabolic process [inference]

aminoglycan metabolic process [inference]

aminoglycan biosynthetic process [inference]

glycosaminoglycan biosynthetic process [inference]

chondroitin sulfate biosynthetic process

glycosaminoglycan metabolic process [inference]

glycosaminoglycan biosynthetic process [inference]

chondroitin sulfate biosynthetic process

mucopolysaccharide metabolic process [inference]

chondroitin sulfate metabolic process [inference]

chondroitin sulfate biosynthetic process

protein metabolic process [inference]

protein modification process [inference]

protein glycosylation [inference]

protein O-linked glycosylation

peptidyl-amino acid modification [inference]

peptidyl-serine modification [inference]

protein O-linked glycosylation via serine

peptidyl-threonine modification [inference]

protein O-linked glycosylation via threonine

organonitrogen compound biosynthetic process [inference]

aminoglycan biosynthetic process [inference]

glycosaminoglycan biosynthetic process [inference]

chondroitin sulfate biosynthetic process

biosynthetic process [inference]

cellular biosynthetic process [inference]

macromolecule biosynthetic process [inference]

aminoglycan biosynthetic process [inference]

glycosaminoglycan biosynthetic process [inference]

chondroitin sulfate biosynthetic process

gene expression

sulfur compound biosynthetic process [inference]

chondroitin sulfate biosynthetic process

organic substance biosynthetic process [inference]

macromolecule biosynthetic process [inference]

aminoglycan biosynthetic process [inference]

glycosaminoglycan biosynthetic process [inference]

chondroitin sulfate biosynthetic process

gene expression

carbohydrate derivative biosynthetic process [inference]

aminoglycan biosynthetic process [inference]

glycosaminoglycan biosynthetic process [inference]

chondroitin sulfate biosynthetic process

organonitrogen compound biosynthetic process [inference]

aminoglycan biosynthetic process [inference]

glycosaminoglycan biosynthetic process [inference]

chondroitin sulfate biosynthetic process

cellular metabolic process [inference]

sulfur compound metabolic process [inference]

chondroitin sulfate metabolic process [inference]

chondroitin sulfate biosynthetic process

sulfur compound biosynthetic process [inference]

chondroitin sulfate biosynthetic process

cellular biosynthetic process [inference]

macromolecule biosynthetic process [inference]

aminoglycan biosynthetic process [inference]

glycosaminoglycan biosynthetic process [inference]

chondroitin sulfate biosynthetic process

gene expression

sulfur compound biosynthetic process [inference]

chondroitin sulfate biosynthetic process

primary metabolic process [inference]

carbohydrate metabolic process

polysaccharide metabolic process

protein metabolic process [inference]

protein modification process [inference]

protein glycosylation [inference]

protein O-linked glycosylation

peptidyl-amino acid modification [inference]

peptidyl-serine modification [inference]

protein O-linked glycosylation via serine

peptidyl-threonine modification [inference]

protein O-linked glycosylation via threonine

glycosylation [inference]

macromolecule glycosylation [inference]

protein glycosylation [inference]

protein O-linked glycosylation

organic substance metabolic process [inference]

carbohydrate metabolic process

polysaccharide metabolic process

macromolecule metabolic process [inference]

polysaccharide metabolic process

aminoglycan metabolic process [inference]

aminoglycan biosynthetic process [inference]

glycosaminoglycan biosynthetic process [inference]

chondroitin sulfate biosynthetic process

glycosaminoglycan metabolic process [inference]

glycosaminoglycan biosynthetic process [inference]

chondroitin sulfate biosynthetic process

mucopolysaccharide metabolic process [inference]

chondroitin sulfate metabolic process [inference]

chondroitin sulfate biosynthetic process

macromolecule biosynthetic process [inference]

aminoglycan biosynthetic process [inference]

glycosaminoglycan biosynthetic process [inference]

chondroitin sulfate biosynthetic process

gene expression

protein metabolic process [inference]

protein modification process [inference]

protein glycosylation [inference]

protein O-linked glycosylation

peptidyl-amino acid modification [inference]

peptidyl-serine modification [inference]

protein O-linked glycosylation via serine

peptidyl-threonine modification [inference]

protein O-linked glycosylation via threonine

macromolecule modification [inference]

protein modification process [inference]

protein glycosylation [inference]

protein O-linked glycosylation

peptidyl-amino acid modification [inference]

peptidyl-serine modification [inference]

protein O-linked glycosylation via serine

peptidyl-threonine modification [inference]

protein O-linked glycosylation via threonine

macromolecule glycosylation [inference]

protein glycosylation [inference]

protein O-linked glycosylation

carbohydrate derivative metabolic process [inference]

aminoglycan metabolic process [inference]

aminoglycan biosynthetic process [inference]

glycosaminoglycan biosynthetic process [inference]

chondroitin sulfate biosynthetic process

glycosaminoglycan metabolic process [inference]

glycosaminoglycan biosynthetic process [inference]

chondroitin sulfate biosynthetic process

mucopolysaccharide metabolic process [inference]

chondroitin sulfate metabolic process [inference]

chondroitin sulfate biosynthetic process

carbohydrate derivative biosynthetic process [inference]

aminoglycan biosynthetic process [inference]

glycosaminoglycan biosynthetic process [inference]

chondroitin sulfate biosynthetic process

organonitrogen compound metabolic process [inference]

aminoglycan metabolic process [inference]

aminoglycan biosynthetic process [inference]

glycosaminoglycan biosynthetic process [inference]

chondroitin sulfate biosynthetic process

glycosaminoglycan metabolic process [inference]

glycosaminoglycan biosynthetic process [inference]

chondroitin sulfate biosynthetic process

mucopolysaccharide metabolic process [inference]

chondroitin sulfate metabolic process [inference]

chondroitin sulfate biosynthetic process

protein metabolic process [inference]

protein modification process [inference]

protein glycosylation [inference]

protein O-linked glycosylation

peptidyl-amino acid modification [inference]

peptidyl-serine modification [inference]

protein O-linked glycosylation via serine

peptidyl-threonine modification [inference]

protein O-linked glycosylation via threonine

organonitrogen compound biosynthetic process [inference]

aminoglycan biosynthetic process [inference]

glycosaminoglycan biosynthetic process [inference]

chondroitin sulfate biosynthetic process

organic substance biosynthetic process [inference]

macromolecule biosynthetic process [inference]

aminoglycan biosynthetic process [inference]

glycosaminoglycan biosynthetic process [inference]

chondroitin sulfate biosynthetic process

gene expression

carbohydrate derivative biosynthetic process [inference]

aminoglycan biosynthetic process [inference]

glycosaminoglycan biosynthetic process [inference]

chondroitin sulfate biosynthetic process

organonitrogen compound biosynthetic process [inference]

aminoglycan biosynthetic process [inference]

glycosaminoglycan biosynthetic process [inference]

chondroitin sulfate biosynthetic process

cellular process [inference]

signal transduction [inference]

cell surface receptor signaling pathway [inference]

enzyme-linked receptor protein signaling pathway [inference]

transmembrane receptor protein tyrosine kinase signaling pathway [inference]

fibroblast growth factor receptor signaling pathway

cell death [inference]

programmed cell death [inference]

apoptotic process

cellular metabolic process [inference]

sulfur compound metabolic process [inference]

chondroitin sulfate metabolic process [inference]

chondroitin sulfate biosynthetic process

sulfur compound biosynthetic process [inference]

chondroitin sulfate biosynthetic process

cellular biosynthetic process [inference]

macromolecule biosynthetic process [inference]

aminoglycan biosynthetic process [inference]

glycosaminoglycan biosynthetic process [inference]

chondroitin sulfate biosynthetic process

gene expression

sulfur compound biosynthetic process [inference]

chondroitin sulfate biosynthetic process

cellular developmental process [inference]

cell development [inference]

chondrocyte development

cell maturation

reproductive process [inference]

developmental process involved in reproduction [inference]

spermatogenesis

multicellular organismal reproductive process [inference]

gamete generation [inference]

male gamete generation [inference]

spermatogenesis

multicellular organismal process [inference]

ossification [inference]

replacement ossification [inference]

endochondral ossification

multicellular organism growth

developmental process [inference]

developmental process involved in reproduction [inference]

spermatogenesis

developmental maturation [inference]

anatomical structure maturation [inference]

cell maturation

anatomical structure development [inference]

cell development [inference]

chondrocyte development

appendage development [inference]

limb development

cellular developmental process [inference]

cell development [inference]

chondrocyte development

cell maturation

growth [inference]

developmental growth [inference]

multicellular organism growth

biological regulation [inference]

regulation of biological process [inference]

regulation of cellular process [inference]

signal transduction [inference]

cell surface receptor signaling pathway [inference]

enzyme-linked receptor protein signaling pathway [inference]

transmembrane receptor protein tyrosine kinase signaling pathway [inference]

fibroblast growth factor receptor signaling pathway

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GO Term	Evidence Code	PMID
Golgi membrane	TAS
Golgi apparatus	IDA	12506059
Golgi apparatus	IBA
membrane	TAS	8663203
Golgi cisterna membrane	IEA

GO Hierarchy

cellular component

cellular anatomical entity [inference]

membrane

organelle membrane [inference]

Golgi cisterna membrane

bounding membrane of organelle [inference]

Golgi membrane

organelle [inference]

membrane-bounded organelle [inference]

vesicle [inference]

extracellular vesicle [inference]

extracellular exosome

intracellular membrane-bounded organelle [inference]

Golgi apparatus

extracellular membrane-bounded organelle [inference]

extracellular vesicle [inference]

extracellular exosome

intracellular organelle [inference]

intracellular membrane-bounded organelle [inference]

Golgi apparatus

extracellular organelle [inference]

extracellular membrane-bounded organelle [inference]

extracellular vesicle [inference]

extracellular exosome

perinuclear region of cytoplasm

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GO Term	Evidence Code	PMID
polypeptide N-acetylgalactosaminyltransferase activity	TAS
polypeptide N-acetylgalactosaminyltransferase activity	IDA	31932717 8663203 9295285
polypeptide N-acetylgalactosaminyltransferase activity	IMP	17129170
polypeptide N-acetylgalactosaminyltransferase activity	IGI	17129170
polypeptide N-acetylgalactosaminyltransferase activity	IBA

GO Hierarchy

molecular function

catalytic activity [inference]

transferase activity [inference]

glycosyltransferase activity [inference]

UDP-glycosyltransferase activity [inference]

acetylgalactosaminyltransferase activity [inference]

polypeptide N-acetylgalactosaminyltransferase activity

hexosyltransferase activity [inference]

acetylgalactosaminyltransferase activity [inference]

polypeptide N-acetylgalactosaminyltransferase activity

catalytic activity, acting on a protein [inference]

polypeptide N-acetylgalactosaminyltransferase activity

binding [inference]

ion binding [inference]

cation binding [inference]

metal ion binding [inference]

calcium ion binding

transition metal ion binding [inference]

manganese ion binding

Gene Ontology information from NCBI Gene and UniProt.

Human Protein Atlas

ENSG00000115339

Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.

Data available from v23.0.proteinatlas.org. Image credit: Human Protein Atlas

GlycoGene Database (GGDB)

GGDB ID

gg089

Gene Symbol

GALNT3

Orthologous Gene

Displaying **all 4** entries
Species	Protein	mRNA
Mus musculus	NP_056551	NM_015736
Rattus norvegicus	NP_001015032	NM_001015032
Drosophila melanogaster	NP_725602	NM_166188
Caenorhabditis elegans	NP_499721	NM_067320

KEGG BRITE Database

Orthology

K00710

Name

polypeptide N-acetylgalactosaminyltransferase [EC:2.4.1.41]

References

9295285

Rhea

RHEA:52424

UDP-N-acetyl-α-D-galactosamine

H⁺ + UDP

Enzyme

2.4.1.41

PMID

RHEA:23956

UDP-N-acetyl-α-D-galactosamine

H⁺ + UDP

Enzyme

2.4.1.41

PMID

Disease

Disease Ontology

Displaying 1 entry
DO ID	Disease Name	Source
DOID:0111063	hyperphosphatemic familial tumoral calcinosis	Glyco-Disease Genes Database

The Human Phenotype Ontology

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HPO ID	HPO Term
HP:0000007	Autosomal recessive inheritance
HP:0000121	Nephrocalcinosis
HP:0000679	Taurodontia
HP:0000843	Hyperparathyroidism
HP:0001102	Angioid streaks of the fundus
HP:0002905	Hyperphosphatemia
HP:0003072	Hypercalcemia
HP:0003155	Elevated circulating alkaline phosphatase concentration
HP:0003621	Juvenile onset
HP:0003761	Calcinosis

Displaying 1 entry
Disease ID	Disease Name
OMIM:211900	tumoral calcinosis, hyperphosphatemic, familial, 1

PubChem Disease

GHR Health Conditions

Hyperphosphatemic familial tumoral calcinosis

MedGen Diseases

Tumoral calcinosis, hyperphosphatemic, familial, 1

OMIM Phenotypes

TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 1; HFTC1

KEGG Diseases

Familial tumoral calcinosis

Gene-Disease-Co-Occurrences-in-Literature (PubChem)

Ortholog

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Species	Gene ID	Alliance of Genome Resources	Orthologous MAtrix
Xenopus tropicalis	2591	Xenbase:XB-GENE-954414
Mus musculus	14425	Xenbase:XB-GENE-954414	MOUSE31719
Danio rerio	35627	ZFIN:ZDB-GENE-120313-1
Danio rerio	36717	ZFIN:ZDB-GENE-120313-1
Drosophila melanogaster	175558	FB:FBgn0027558
Drosophila melanogaster	176557	FB:FBgn0034025
Drosophila melanogaster	231605	FB:FBgn0034025
Rattus norvegicus	366061	Xenbase:XB-GENE-954414	RATNO28570
Drosophila melanogaster	406477	FB:FBgn0034025
Pan troglodytes	459702		PANTR29015

GlyTouCan

GlyComb

GlycoPOST

UniCarb-DR

LM-GlycoRepo

All Resources

Other Information

Tools

Search Tools

Guidelines

Summary

External Links

Annotation

GlycoGene Database (GGDB)

KEGG BRITE Database

PubChem Disease

International Collaboration

Acknowledgements