Entity Details

Primary name GALNT3
Entity type gene
Source Source Link

Details

PrimaryID2591
RefseqGeneNG_012069
SymbolGALNT3
Namepolypeptide N-acetylgalactosaminyltransferase 3
Chromosome2
Location2q24.3
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate1998-08-27
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsGALT3_HUMAN

GO terms

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GOName
GO:0000139 Golgi membrane
GO:0004653 polypeptide N-acetylgalactosaminyltransferase activity
GO:0005509 calcium ion binding
GO:0005794 Golgi apparatus
GO:0005975 carbohydrate metabolic process
GO:0008543 fibroblast growth factor receptor signaling pathway
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0016266 O-glycan processing
GO:0018242 protein O-linked glycosylation via serine
GO:0018243 protein O-linked glycosylation via threonine
GO:0030145 manganese ion binding
GO:0030246 carbohydrate binding
GO:0032580 Golgi cisterna membrane
GO:0048471 perinuclear region of cytoplasm
GO:0070062 extracellular exosome

Diseases

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Disease IDSourceNameDescription
211900 OMIMTumoral calcinosis, hyperphosphatemic, familial, 1 (HFTC1)A form of hyperphosphatemic tumoral calcinosis, a rare autosomal recessive metabolic disorder that manifests with hyperphosphatemia and massive calcium deposits in the skin and subcutaneous tissues. Some patients have recurrent, transient, painful swellings of the long bones associated with the radiographic findings of periosteal reaction and cortical hyperostosis and absence of skin involvement. The disease is caused by variants affecting the gene represented in this entry.

Interactions

9 interactions

InteractorPartnerSourcesPublicationsLink
GALNT3MAPK8IP2BioGRID, IntAct25814554 details
GALNT3APPBP2BioGRID, IntAct25416956 details
GALNT3RSPRY1BioGRID, IntAct28514442 details
GALNT3UNC93B1BioGRID, IntAct30833792 details
GALNT3ESR1BioGRID, IntAct31527615 details
GALNT3ESR2BioGRID29509190 details
GALNT3SLC15A3BioGRID30833792 details
GALNT3NR3C1BioGRID31182584 details
GALNT3DDX58BioGRID32513696 details