BC007317
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UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
37,406 Da
NCBI Official Full Name
Homo sapiens xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7 (galactosyltransferase I), mRNA
NCBI Official Synonym Full Names
beta-1,4-galactosyltransferase 7
NCBI Protein Information
beta-1,4-galactosyltransferase 7
UniProt Protein Name
Beta-1,4-galactosyltransferase 7
UniProt Synonym Protein Names
UDP-Gal:beta-GlcNAc beta-1,4-galactosyltransferase 7; UDP-galactose:beta-N-acetylglucosamine beta-1,4-galactosyltransferase 7Including the following 1 domains:Xylosylprotein 4-beta-galactosyltransferase (EC:2.4.1.133)Alternative name(s):Proteoglycan UDP-galactose:beta-xylose beta1,4-galactosyltransferase I; UDP-galactose:beta-xylose beta-1,4-galactosyltransferase; XGPT; XGalT-1; Xylosylprotein beta-1,4-galactosyltransferase
UniProt Synonym Gene Names
UniProt Entry Name
B4GT7_HUMAN
NCBI Summary for B4GALT7
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]
UniProt Comments for B4GALT7
B4GALT7: Required for the biosynthesis of the tetrasaccharide linkage region of proteoglycans, especially for small proteoglycans in skin fibroblasts. Defects in B4GALT7 are the cause of Ehlers-Danlos syndrome progeroid type (EDSP). 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. Belongs to the glycosyltransferase 7 family.
Protein type: Transferase; EC 2.4.1.133; Glycan Metabolism - chondroitin sulfate biosynthesis; Glycan Metabolism - heparan sulfate biosynthesis; Membrane protein, integral
Chromosomal Location of Human Ortholog: 5q35.2-q35.3
Cellular Component: Golgi apparatus; Golgi membrane; integral to membrane
Molecular Function: beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity; galactosyltransferase activity; manganese ion binding; protein binding; xylosylprotein 4-beta-galactosyltransferase activity
Biological Process: fibril organization and biogenesis; glycosaminoglycan biosynthetic process; glycosaminoglycan metabolic process; negative regulation of fibroblast proliferation; protein amino acid N-linked glycosylation; protein modification process; proteoglycan metabolic process
Disease: Ehlers-danlos Syndrome, Progeroid Type, 1
Research Articles on B4GALT7
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Pathways associated with B4GALT7 cdna clone
Diseases associated with B4GALT7 cdna clone
Organs/Tissues associated with B4GALT7 cdna clone
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