InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: B3GALT6

Summary

InnateDB Protein

IDBP-84716.5

Last Modified

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

Gene Symbol

B3GALT6

Protein Name

UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 6

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000368496

InnateDB Gene

IDBG-84714 (B3GALT6)

Protein Structure

UniProt Annotation

Function

Beta-1,3-galactosyltransferase that transfers galactose from UDP-galactose to substrates with a terminal beta-linked galactose residue. Has a preference for galactose-beta-1,4-xylose that is found in the linker region of glycosaminoglycans, such as heparan sulfate and chondroitin sulfate. Has no activity towards substrates with terminal glucosamine or galactosamine residues. {ECO:0000269PubMed:11551958}.

Subcellular Localization

Golgi apparatus, Golgi stack membrane {ECO:0000269PubMed:11551958}; Single-pass type II membrane protein {ECO:0000269PubMed:11551958}.

Disease Associations

Ehlers-Danlos syndrome, progeroid type, 2 (EDSP2) [MIM:615349]: A variant form of Ehlers-Danlos syndrome characterized by an aged appearance, developmental delay, short stature, craniofacial disproportion, generalized osteopenia, defective wound healing, hypermobile joints, hypotonic muscles, and loose but elastic skin. {ECO:0000269PubMed:23664117}. Note=The disease is caused by mutations affecting the gene represented in this entry.Spondyloepimetaphyseal dysplasia with joint laxity, 1, with or without fractures (SEMDJL1) [MIM:271640]: A bone disease characterized by vertebral abnormalities and ligamentous laxity that result in spinal misalignment and progressive severe kyphoscoliosis, thoracic asymmetry, and respiratory compromise resulting in early death. Additional skeletal features include elbow deformities with radial head dislocation, dislocated hips, clubfeet, and tapered fingers with spatulate distal phalanges. Many affected children have an oval face, flat midface, prominent eyes with blue sclerae, and a long philtrum. Palatal abnormalities and congenital heart disease are also observed. {ECO:0000269PubMed:23664117, ECO:0000269PubMed:23664118}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Ubiquitous. {ECO:0000269PubMed:11551958}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 2 experimentally validated interaction(s) in this database.

Experimentally validated
Total	2 [view]
Protein-Protein	2 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0008378	galactosyltransferase activity
GO:0008499	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity
GO:0035250	UDP-galactosyltransferase activity
GO:0047220	galactosylxylosylprotein 3-beta-galactosyltransferase activity

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:0030206	chondroitin sulfate biosynthetic process
GO:0044281	small molecule metabolic process