Description: Homo sapiens xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7 (B4GALT7), mRNA. RefSeq Summary (NM_007255): 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]. Transcript (Including UTRs) Position: hg19 chr5:177,027,119-177,037,346 Size: 10,228 Total Exon Count: 6 Strand: + Coding Region Position: hg19 chr5:177,027,212-177,036,696 Size: 9,485 Coding Exon Count: 6
ID:B4GT7_HUMAN DESCRIPTION: RecName: Full=Beta-1,4-galactosyltransferase 7; Short=Beta-1,4-GalTase 7; Short=Beta4Gal-T7; Short=b4Gal-T7; EC=2.4.1.-; AltName: Full=UDP-Gal:beta-GlcNAc beta-1,4-galactosyltransferase 7; AltName: Full=UDP-galactose:beta-N-acetylglucosamine beta-1,4-galactosyltransferase 7; Includes: RecName: Full=Xylosylprotein 4-beta-galactosyltransferase; EC=2.4.1.133; AltName: Full=Proteoglycan UDP-galactose:beta-xylose beta1,4-galactosyltransferase I; AltName: Full=UDP-galactose:beta-xylose beta-1,4-galactosyltransferase; AltName: Full=XGPT; AltName: Full=XGalT-1; AltName: Full=Xylosylprotein beta-1,4-galactosyltransferase; FUNCTION: Required for the biosynthesis of the tetrasaccharide linkage region of proteoglycans, especially for small proteoglycans in skin fibroblasts. CATALYTIC ACTIVITY: UDP-alpha-D-galactose + O-beta-D-xylosyl- [protein] = UDP + 4-beta-D-galactosyl-O-beta-D-xylosyl-[protein]. COFACTOR: Manganese. PATHWAY: Protein modification; protein glycosylation. 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. DISEASE: Defects in B4GALT7 are the cause of Ehlers-Danlos syndrome progeroid type (EDSP) [MIM:130070]. EDSP is 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. SIMILARITY: Belongs to the glycosyltransferase 7 family. WEB RESOURCE: Name=GGDB; Note=GlycoGene database; URL="http://riodb.ibase.aist.go.jp/rcmg/ggdb/"; 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";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q9UBV7
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Gene Ontology (GO) Annotations with Structured Vocabulary
Molecular Function: GO:0003831 beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity GO:0005515 protein binding GO:0008378 galactosyltransferase activity GO:0016740 transferase activity GO:0016757 transferase activity, transferring glycosyl groups GO:0030145 manganese ion binding GO:0046525 xylosylprotein 4-beta-galactosyltransferase activity GO:0046872 metal ion binding
Biological Process: GO:0005975 carbohydrate metabolic process GO:0006024 glycosaminoglycan biosynthetic process GO:0006029 proteoglycan metabolic process GO:0006464 cellular protein modification process GO:0006486 protein glycosylation GO:0006487 protein N-linked glycosylation GO:0030203 glycosaminoglycan metabolic process GO:0048147 negative regulation of fibroblast proliferation GO:0097435 supramolecular fiber organization
Protein Q9UBV7 (Reactome details) participates in the following event(s):
R-HSA-1889981 B4GALT7 transfers Gal group to xylosyl-unit of the tetrasaccharide linker R-HSA-1971475 A tetrasaccharide linker sequence is required for GAG synthesis R-HSA-1638091 Heparan sulfate/heparin (HS-GAG) metabolism R-HSA-1793185 Chondroitin sulfate/dermatan sulfate metabolism R-HSA-1630316 Glycosaminoglycan metabolism R-HSA-71387 Metabolism of carbohydrates R-HSA-1430728 Metabolism