Version 5.4
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
IDBP-60514
xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7 (galactosyltransferase I)
IDBP-476560
xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7 (galactosyltransferase I)
IDBP-479861
xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7 (galactosyltransferase I)
IDBP-480735
xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7 (galactosyltransferase I)
IDBP-482104
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
ENSMUSG00000021504
View Gene Order
ENSBTAG00000001767
Not yet available
Pathways
NETPATH
REACTOME
REACT_121408
A tetrasaccharide linker sequence is required for GAG synthesis pathway
REACT_147853
Mucopolysaccharidoses pathway
REACT_200783
Myoclonic epilepsy of Lafora pathway
REACT_267711
Defective B4GALT7 causes EDS, progeroid type pathway
REACT_267713
Defective CHST6 causes MCDC1 pathway
REACT_147719
MPS VI - Maroteaux-Lamy syndrome pathway
REACT_267645
Defective PAPSS2 causes SEMD-PA pathway
REACT_474
Metabolism of carbohydrates pathway
REACT_147749
MPS IIID - Sanfilippo syndrome D pathway
REACT_267662
Defective SLC26A2 causes chondrodysplasias pathway
REACT_147739
MPS IX - Natowicz syndrome pathway
REACT_267674
Defective EXT1 causes exostoses 1, TRPS2 and CHDS pathway
REACT_267642
Defective CHST14 causes EDS, musculocontractural type pathway
REACT_121314
Heparan sulfate/heparin (HS-GAG) metabolism pathway
REACT_147798
MPS IV - Morquio syndrome B pathway
REACT_267659
Defective B3GAT3 causes JDSSDHD pathway
REACT_267708
Defective CHST3 causes SEDCJD pathway
REACT_147825
MPS IV - Morquio syndrome A pathway
REACT_267654
Defective EXT2 causes exostoses 2 pathway
REACT_267707
Diseases associated with glycosaminoglycan metabolism pathway
REACT_147734
MPS II - Hunter syndrome pathway
REACT_267635
Defective B4GALT1 causes B4GALT1-CDG (CDG-2d) pathway
REACT_121315
Glycosaminoglycan metabolism pathway
REACT_267705
Diseases of glycosylation pathway
REACT_121206
Chondroitin sulfate/dermatan sulfate metabolism pathway
REACT_147759
MPS VII - Sly syndrome pathway
REACT_267682
Defective CHSY1 causes TPBS pathway
REACT_111217
Metabolism pathway
REACT_147857
MPS I - Hurler syndrome pathway
REACT_147753
MPS IIIA - Sanfilippo syndrome A pathway
REACT_147860
MPS IIIC - Sanfilippo syndrome C pathway
REACT_116125
Disease pathway
REACT_200833
Glycogen storage diseases pathway
REACT_147788
MPS IIIB - Sanfilippo syndrome B pathway
KEGG
hsa00532
Glycosaminoglycan biosynthesis pathway
hsa00534
Glycosaminoglycan biosynthesis pathway
INOH
PID NCI
Cross-References
SwissProt Q9UBV7
TrEMBL B3KMT1 D6RA33 D6RDJ8 D6RJI5 H0Y9D6
UniProt Splice Variant
Entrez Gene 11285
UniGene Hs.455109
RefSeq NM_007255 XM_005265805 XM_006714815 XM_006714816
HUGO HGNC:930
OMIM 604327
CCDS CCDS4429
HPRD
IMGT
EMBL AB028600 AC139795 AF142675 AJ005382 AK022566 AK023506 AY358578 BC007317 BC062983 BC072403 CH471195
GenPept AAF22225 AAH07317 AAH62983 AAH72403 AAQ88941 BAA83414 BAG51093 BAG51201 CAB56424 EAW84965
RNA Seq Atlas 11285

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca