LMPD Database

LMP006533

Record overview

LMPD IDLMP006533
Gene ID11285
SpeciesHomo sapiens (Human)
Gene Namexylosylprotein beta 1,4-galactosyltransferase, polypeptide 7
Gene SymbolB4GALT7
SynonymsEDSP1; XGALT1; XGPT1
Alternate namesbeta-1,4-galactosyltransferase 7; beta4Gal-T7; beta4GalT-VII; beta-1,4-GalTase 7; galactosyltransferase I; beta-1,4-galactosyltransferase VII; UDP-Gal:beta-GlcNAc beta-1,4-galactosyltransferase 7; proteoglycan UDP-galactose:beta-xylose beta1,4-galactosyltransferase I; UDP-galactose:beta-N-acetylglucosamine beta-1,4-galactosyltransferase 7
Chromosome5
Map Location5q35.2-q35.3
EC Number2.4.1.-
SummaryThis 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]
OrthologsView orthologs and multiple alignments for B4GALT7

Proteins

beta-1,4-galactosyltransferase 7
Refseq ID:NP_009186
Protein GI:6005952
UniProt ID:Q9UBV7
mRNA ID:NM_007255
Length:327
RefSeq Status:REVIEWED
MFPSRRKAAQLPWEDGRSGLLSGGLPRKCSVFHLFVACLSLGFFSLLWLQLSCSGDVARAVRGQGQETSGPPRACPPEPPPEHWEEDASWGPHRLAVLVP
FRERFEELLVFVPHMRRFLSRKKIRHHIYVLNQVDHFRFNRAALINVGFLESSNSTDYIAMHDVDLLPLNEELDYGFPEAGPFHVASPELHPLYHYKTYV
GGILLLSKQHYRLCNGMSNRFWGWGREDDEFYRRIKGAGLQLFRPSGITTGYKTFRHLHDPAWRKRDQKRIAAQKQEQFKVDREGGLNTVKYHVASRTAL
SVGGAPCTVLNIMLDCDKTATPWCTFS