Homo sapiens Gene: B4GALT7
Summary
InnateDB Gene IDBG-60512.7
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol B4GALT7
Gene Name xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7
Synonyms EDSP1; XGALT1; XGPT1;
Species Homo sapiens
Ensembl Gene ENSG00000027847
Encoded Proteins
xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7 (galactosyltransferase I)
xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7 (galactosyltransferase I)
xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7 (galactosyltransferase I)
xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7 (galactosyltransferase I)
xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7 (galactosyltransferase I)
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene is a member of the beta-1,4-galactosyltransferase (beta4GalT) family. Family members encode type II membrane-bound glycoproteins that appear to have exclusive specificity for the donor substrate UDP-galactose. Each beta4GalT member has a distinct function in the biosynthesis of different glycoconjugates and saccharide structures. As type II membrane proteins, they have an N-terminal hydrophobic signal sequence that directs the protein to the Golgi apparatus which then remains uncleaved to function as a transmembrane anchor. The enzyme encoded by this gene attaches the first galactose in the common carbohydrate-protein linkage (GlcA-beta1,3-Gal-beta1,3-Gal-beta1,4-Xyl-beta1-O-Ser) found in proteoglycans. This enzyme differs from other beta4GalTs because it lacks the conserved Cys residues found in beta4GalT1-beta4GalT6 and it is located in cis-Golgi instead of trans-Golgi. Mutations in this gene have been associated with the progeroid form of Ehlers-Danlos syndrome. [provided by RefSeq, Oct 2009]
Gene Information
Type Protein coding
Genomic Location Chromosome 5:177600100-177610347
Strand Forward strand
Band q35.3
Transcripts
ENST00000029410 ENSP00000029410
ENST00000502420
ENST00000505433 ENSP00000425591
ENST00000510761 ENSP00000423438
ENST00000505468 ENSP00000420886
ENST00000507061 ENSP00000423868
ENST00000505145
ENST00000515353
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
Cellular Component
GO:0000139 Golgi membrane
GO:0005794 Golgi apparatus
GO:0016021 integral component of membrane
GO:0032580 Golgi cisterna membrane
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Pathways
NETPATH
REACTOME
Mucopolysaccharidoses pathway
Myoclonic epilepsy of Lafora pathway
Defective B4GALT7 causes EDS, progeroid type pathway
Defective CHST6 causes MCDC1 pathway
A tetrasaccharide linker sequence is required for GAG synthesis pathway
MPS VI - Maroteaux-Lamy syndrome pathway
Defective PAPSS2 causes SEMD-PA pathway
Metabolism of carbohydrates pathway
MPS IIID - Sanfilippo syndrome D pathway
Defective SLC26A2 causes chondrodysplasias pathway
MPS IX - Natowicz syndrome pathway
Defective EXT1 causes exostoses 1, TRPS2 and CHDS pathway
Defective CHST14 causes EDS, musculocontractural type pathway
Heparan sulfate/heparin (HS-GAG) metabolism pathway
MPS IV - Morquio syndrome B pathway
Defective B3GAT3 causes JDSSDHD pathway
Defective CHST3 causes SEDCJD pathway
MPS IV - Morquio syndrome A pathway
Defective EXT2 causes exostoses 2 pathway
Diseases associated with glycosaminoglycan metabolism pathway
MPS II - Hunter syndrome pathway
Defective B4GALT1 causes B4GALT1-CDG (CDG-2d) pathway
Glycosaminoglycan metabolism pathway
Diseases of glycosylation pathway
Chondroitin sulfate/dermatan sulfate metabolism pathway
MPS VII - Sly syndrome pathway
Defective CHSY1 causes TPBS pathway
Metabolism pathway
MPS I - Hurler syndrome pathway
MPS IIIA - Sanfilippo syndrome A pathway
MPS IIIC - Sanfilippo syndrome C pathway
Disease pathway
Glycogen storage diseases pathway
MPS IIIB - Sanfilippo syndrome B pathway
KEGG
Glycosaminoglycan biosynthesis pathway
Glycosaminoglycan biosynthesis pathway
INOH
PID BIOCARTA
PID NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.455109
RefSeq NM_007255 XM_005265805 XM_006714815 XM_006714816
HUGO
OMIM
CCDS CCDS4429
HPRD 05060
IMGT
EMBL
GenPept
RNA Seq Atlas