Gene/Proteome Database (LMPD)

LMPD ID
LMP006533
Gene ID
11285
Species
Homo sapiens (Human)
Gene Name
xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7
Gene Symbol
B4GALT7
Synonyms
EDSP1; XGALT1; XGPT1
Alternate Names
beta-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
Chromosome
5
Map Location
5q35.2-q35.3
EC Number
2.4.1.-
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]
Orthologs
View 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
MFPSRRKAAQLPWEDGRSGLLSGGLPRKCSVFHLFVACLSLGFFSLLWLQLSCSGDVARAVRGQGQETSGPPRACPPEPPPEHWEEDASWGPHRLAVLVPFRERFEELLVFVPHMRRFLSRKKIRHHIYVLNQVDHFRFNRAALINVGFLESSNSTDYIAMHDVDLLPLNEELDYGFPEAGPFHVASPELHPLYHYKTYVGGILLLSKQHYRLCNGMSNRFWGWGREDDEFYRRIKGAGLQLFRPSGITTGYKTFRHLHDPAWRKRDQKRIAAQKQEQFKVDREGGLNTVKYHVASRTALSVGGAPCTVLNIMLDCDKTATPWCTFS

Gene Information

Entrez Gene ID
11285
Gene Name
xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7
Gene Symbol
B4GALT7
Species
Homo sapiens

Gene Ontology (GO Annotations)

GO ID Source Type Description
GO:0005794 IDA:UniProtKB C Golgi apparatus
GO:0000139 TAS:Reactome C Golgi membrane
GO:0016021 IDA:UniProtKB C integral component of membrane
GO:0003831 IDA:UniProtKB F beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity
GO:0008378 IDA:UniProtKB F galactosyltransferase activity
GO:0030145 IDA:UniProtKB F manganese ion binding
GO:0046525 IDA:UniProtKB F xylosylprotein 4-beta-galactosyltransferase activity
GO:0005975 TAS:Reactome P carbohydrate metabolic process
GO:0006464 TAS:ProtInc P cellular protein modification process
GO:0030204 TAS:Reactome P chondroitin sulfate metabolic process
GO:0043206 IMP:UniProtKB P extracellular fibril organization
GO:0006024 IDA:UniProtKB P glycosaminoglycan biosynthetic process
GO:0030203 TAS:Reactome P glycosaminoglycan metabolic process
GO:0048147 IMP:UniProtKB P negative regulation of fibroblast proliferation
GO:0006487 IDA:UniProtKB P protein N-linked glycosylation
GO:0006029 IMP:UniProtKB P proteoglycan metabolic process
GO:0044281 TAS:Reactome P small molecule metabolic process

KEGG Pathway Links

KEGG Pathway ID Description
hsa00532 Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate
hsa00534 Glycosaminoglycan biosynthesis - heparan sulfate / heparin

BIOCYC Pathway Links

BIOCYC Pathway ID Description
PWY-6557 glycoaminoglycan-protein linkage region biosynthesis

REACTOME Pathway Links

REACTOME Pathway ID Description
REACT_121408 A tetrasaccharide linker sequence is required for GAG synthesis

Domain Information

InterPro Annotations

Accession Description
IPR003859 Beta-1,4-galactosyltransferase
IPR027791 Galactosyltransferase, C-terminal
IPR027995 Galactosyltransferase, N-terminal
IPR029044 Nucleotide-diphospho-sugar transferases

UniProt Annotations

Entry Information

Gene Name
xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7
Protein Entry
B4GT7_HUMAN
UniProt ID
Q9UBV7
Species
Human

Comments

Comment Type Description
Catalytic Activity UDP-alpha-D-galactose + O-beta-D-xylosyl- [protein] = UDP + 4-beta-D-galactosyl-O-beta-D-xylosyl-[protein].
Cofactor Name=Mn(2+); Xref=ChEBI
Disease Ehlers-Danlos syndrome, progeroid type, 1 (EDSP1) [MIM
Function Required for the biosynthesis of the tetrasaccharide linkage region of proteoglycans, especially for small proteoglycans in skin fibroblasts.
Pathway Protein modification; protein glycosylation.
Similarity Belongs to the glycosyltransferase 7 family.
Subcellular Location Golgi apparatus, Golgi stack membrane; Single-pass type II membrane protein. Note=Cis cisternae of Golgi stack.
Tissue Specificity High expression in heart, pancreas and liver, medium in placenta and kidney, low in brain, skeletal muscle and lung.
Web Resource Name=Functional Glycomics Gateway - GTase; Note=Beta-1,4-galactosyltransferase 7; URL="http://www.functionalglycomics.org/glycomics/molecule/jsp/glycoEnzyme/viewGlycoEnzyme.jsp?gbpId=gt_hum_442";
Web Resource Name=GGDB; Note=GlycoGene database; URL="http://jcggdb.jp/rcmg/ggdb/Homolog?cat=symbol&symbol=B4GALT7";

Identical and Related Proteins

Unique RefSeq proteins for LMP006533 (as displayed in Record Overview)

Protein GI Database Accession Length Protein Name
6005952 RefSeq NP_009186 327 beta-1,4-galactosyltransferase 7

Identical Sequences to LMP006533 proteins

Reference Database Accession Length Protein Name
GI:6005952 GenBank JAA07279.1 327 xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7 (galactosyltransferase I) [Pan troglodytes]
GI:6005952 GenBank JAA18091.1 327 xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7 (galactosyltransferase I) [Pan troglodytes]
GI:6005952 GenBank JAA22366.1 327 xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7 (galactosyltransferase I) [Pan troglodytes]
GI:6005952 GenBank JAA41587.1 327 xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7 (galactosyltransferase I) [Pan troglodytes]
GI:6005952 GenBank AIC55963.1 327 B4GALT7, partial [synthetic construct]
GI:6005952 RefSeq XP_003806919.1 327 PREDICTED: beta-1,4-galactosyltransferase 7 [Pan paniscus]

Related Sequences to LMP006533 proteins

Reference Database Accession Length Protein Name
GI:6005952 GenBank AAF22225.1 327 beta-1,4-galactosyltransferase VII [Homo sapiens]
GI:6005952 GenBank ACM85403.1 340 Sequence 10901 from patent US 6812339
GI:6005952 GenBank AFE76527.1 327 beta-1,4-galactosyltransferase 7 [Macaca mulatta]
GI:6005952 GenBank AFH30987.1 327 beta-1,4-galactosyltransferase 7 [Macaca mulatta]
GI:6005952 RefSeq XP_008013658.1 327 PREDICTED: beta-1,4-galactosyltransferase 7 isoform X2 [Chlorocebus sabaeus]
GI:6005952 RefSeq XP_010384761.1 327 PREDICTED: beta-1,4-galactosyltransferase 7 isoform X2 [Rhinopithecus roxellana]