InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: B3GAT3

Summary

InnateDB Protein

IDBP-51331.6

Last Modified

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

Gene Symbol

B3GAT3

Protein Name

beta-1,3-glucuronyltransferase 3 (glucuronosyltransferase I)

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000265471

InnateDB Gene

IDBG-51329 (B3GAT3)

Protein Structure

UniProt Annotation

Function

Glycosaminoglycans biosynthesis. Involved in forming the linkage tetrasaccharide present in heparan sulfate and chondroitin sulfate. Transfers a glucuronic acid moiety from the uridine diphosphate-glucuronic acid (UDP-GlcUA) to the common linkage region trisaccharide Gal-beta-1,3-Gal-beta-1,4-Xyl covalently bound to a Ser residue at the glycosaminylglycan attachment site of proteoglycans. Can also play a role in the biosynthesis of l2/HNK-1 carbohydrate epitope on glycoproteins. Shows strict specificity for Gal-beta-1,3-Gal-beta-1,4-Xyl, exhibiting negligible incorporation into other galactoside substrates including Galbeta1-3Gal beta1-O-benzyl, Galbeta1-4GlcNAc and Galbeta1-4Glc.

Subcellular Localization

Golgi apparatus membrane {ECO:0000269PubMed:21763480}; Single-pass type II membrane protein {ECO:0000269PubMed:21763480}. Golgi apparatus, cis-Golgi network {ECO:0000269PubMed:21763480}.

Disease Associations

Multiple joint dislocations short stature craniofacial dysmorphism and congenital heart defects (JDSSDHD) [MIM:245600]: An autosomal recessive disease characterized by dysmorphic facies, bilateral dislocations of the elbows, hips, and knees, clubfeet, and short stature, as well as cardiovascular defects. {ECO:0000269PubMed:21763480}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Ubiquitous (but weakly expressed in all tissues examined).

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 5 experimentally validated interaction(s) in this database.

Experimentally validated
Total	5 [view]
Protein-Protein	5 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0015018	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity
GO:0015020	glucuronosyltransferase activity
GO:0046872	metal ion binding

Biological Process

GO:0005975	carbohydrate metabolic process
GO:0006024	glycosaminoglycan biosynthetic process
GO:0006486	protein glycosylation
GO:0015012	heparan sulfate proteoglycan biosynthetic process
GO:0030203	glycosaminoglycan metabolic process
GO:0030204	chondroitin sulfate metabolic process
GO:0044281	small molecule metabolic process
GO:0050650	chondroitin sulfate proteoglycan biosynthetic process
GO:0050651	dermatan sulfate proteoglycan biosynthetic process

Cellular Component

GO:0000139	Golgi membrane
GO:0005794	Golgi apparatus
GO:0005801	cis-Golgi network
GO:0016020	membrane
GO:0016021	integral component of membrane
GO:0070062	extracellular vesicular exosome