InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: GALNT3

Summary

InnateDB Protein

IDBP-245124.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

GALNT3

Protein Name

UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 3 (GalNAc-T3)

Synonyms

GalNAc-T3; HFTC; HHS;

Species

Homo sapiens

Ensembl Protein

ENSP00000376465

InnateDB Gene

IDBG-74096 (GALNT3)

Protein Structure

UniProt Annotation

Function

Catalyzes the initial reaction in O-linked oligosaccharide biosynthesis, the transfer of an N-acetyl-D- galactosamine residue to a serine or threonine residue on the protein receptor. Has activity toward HIV envelope glycoprotein gp120, EA2, Muc2 and Muc5. Probably glycosylates fibronectin in vivo. Glycosylates FGF23. Plays a central role in phosphate homeostasis. {ECO:0000269PubMed:16638743, ECO:0000269PubMed:9295285}.

Subcellular Localization

Golgi apparatus, Golgi stack membrane {ECO:0000269PubMed:9394011}; Single-pass type II membrane protein {ECO:0000269PubMed:9394011}. Note=Resides preferentially in the trans and medial parts of the Golgi stack.

Disease Associations

Tumoral calcinosis, hyperphosphatemic, familial (HFTC) [MIM:211900]: A severe metabolic disorder that manifests with hyperphosphatemia and massive calcium deposits in the skin and subcutaneous tissues. Some patients manifest recurrent, transient, painful swellings of the long bones associated with the radiographic findings of periosteal reaction and cortical hyperostosis and absence of skin involvement. {ECO:0000269PubMed:15133511, ECO:0000269PubMed:15599692}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Expressed in organs that contain secretory epithelial glands. Highly expressed in pancreas, skin, kidney and testis. Weakly expressed in prostate, ovary, intestine and colon. Also expressed in placenta and lung and fetal lung and fetal kidney. {ECO:0000269PubMed:12708471, ECO:0000269PubMed:8663203}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.

Gene Ontology

Molecular Function

Accession	GO Term
GO:0004653	polypeptide N-acetylgalactosaminyltransferase activity
GO:0005509	calcium ion binding
GO:0016757	transferase activity, transferring glycosyl groups
GO:0030145	manganese ion binding

Biological Process

GO:0005975	carbohydrate metabolic process
GO:0008152	metabolic process
GO:0016266	O-glycan processing
GO:0018242	protein O-linked glycosylation via serine
GO:0018243	protein O-linked glycosylation via threonine
GO:0043687	post-translational protein modification
GO:0044267	cellular protein metabolic process

Cellular Component

GO:0000139	Golgi membrane
GO:0005794	Golgi apparatus
GO:0016020	membrane
GO:0016021	integral component of membrane
GO:0032580	Golgi cisterna membrane
GO:0048471	perinuclear region of cytoplasm