InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: B4GALT7

Summary

InnateDB Protein

IDBP-60514.5

Last Modified

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

Gene Symbol

B4GALT7

Protein Name

xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7 (galactosyltransferase I)

Synonyms

EDSP1; XGALT1; XGPT1;

Species

Homo sapiens

Ensembl Protein

ENSP00000029410

InnateDB Gene

IDBG-60512 (B4GALT7)

Protein Structure

UniProt Annotation

Function

Required for the biosynthesis of the tetrasaccharide linkage region of proteoglycans, especially for small proteoglycans in skin fibroblasts. {ECO:0000269PubMed:24052259}.

Subcellular Localization

Golgi apparatus, Golgi stack membrane; Single-pass type II membrane protein. Note=Cis cisternae of Golgi stack.

Disease Associations

Ehlers-Danlos syndrome, progeroid type, 1 (EDSP1) [MIM:130070]: A variant form of Ehlers-Danlos syndrome characterized by progeroid facies, mild mental retardation, short stature, skin hyperextensibility, moderate skin fragility, joint hypermobility principally in digits. {ECO:0000269PubMed:10506123}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

High expression in heart, pancreas and liver, medium in placenta and kidney, low in brain, skeletal muscle and lung.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 1 experimentally validated interaction(s) in this database.

Experimentally validated
Total	1 [view]
Protein-Protein	0
Protein-DNA	1 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003831	beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity
GO:0008378	galactosyltransferase activity
GO:0016757	transferase activity, transferring glycosyl groups
GO:0030145	manganese ion binding
GO:0046525	xylosylprotein 4-beta-galactosyltransferase activity

Biological Process

GO:0005975	carbohydrate metabolic process
GO:0006024	glycosaminoglycan biosynthetic process
GO:0006029	proteoglycan metabolic process
GO:0006464	cellular protein modification process
GO:0006487	protein N-linked glycosylation
GO:0030203	glycosaminoglycan metabolic process
GO:0030204	chondroitin sulfate metabolic process
GO:0043206	extracellular fibril organization
GO:0044281	small molecule metabolic process
GO:0048147	negative regulation of fibroblast proliferation