Property Summary

NCBI Gene PubMed Count 21
Grant Count 23
R01 Count 18
Funding $2,243,418.28
PubMed Score 33.78
PubTator Score 35.75

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (2)

Disease log2 FC p
psoriasis 1.100 0.003
ovarian cancer 1.100 0.000

Gene RIF (9)

PMID Text
25568325 identified two key structural features forming stacking interactions with the aglycone, and the hydrogen bond between the His(195) nitrogen backbone and the carbonyl group of the coumarinyl molecule to develop a tight binder of hbeta4GalT7
24755949 Our findings demonstrate that B4GALT7 is the causative gene for LRS. The identification of a unique homozygous mutation argues in favor of a founder effect. B4GALT7 encodes a galactosyltransferase.
24052259 a Michaelis complex of a glycosyltransferase has been described, and it clearly suggests an SN2 type catalytic mechanism for the beta4GalT7 enzyme.
20843813 Two evolutionary conserved motifs, (163)DVD(165) and (221)FWGWGREDDE(230), are central in the organization of the enzyme active site.
20809901 Mutated ennzyme affects glycosaminoglycan synthesis and is involved Ehlers-Danlos syndrome.
20691685 This study establishes the molecular basis for beta4GalT7 defects associated with altered GAG synthesis in Ehlers-Danlos syndrome.
18158310 Study suggests an heparan sulfate-dependent basic mechanism behind the altered wound repair phenotype of beta4GalT-7-deficient Ehlers-Danlos syndrome patients.
16583246 reduced beta4GalT-7 activity resulting in defective glycosylation of decorin and biglycan may be responsible for the complex molecular pathology in beta4GalT-7 deficient Ehlers-Danlos syndrome patients
15522873 phosphorylation of Xyl on the C-2 position prevents GalT-I activity

AA Sequence

MFPSRRKAAQLPWEDGRSGLLSGGLPRKCSVFHLFVACLSLGFFSLLWLQLSCSGDVARAVRGQGQETSG      1 - 70
PPRACPPEPPPEHWEEDASWGPHRLAVLVPFRERFEELLVFVPHMRRFLSRKKIRHHIYVLNQVDHFRFN     71 - 140
RAALINVGFLESSNSTDYIAMHDVDLLPLNEELDYGFPEAGPFHVASPELHPLYHYKTYVGGILLLSKQH    141 - 210
YRLCNGMSNRFWGWGREDDEFYRRIKGAGLQLFRPSGITTGYKTFRHLHDPAWRKRDQKRIAAQKQEQFK    211 - 280
VDREGGLNTVKYHVASRTALSVGGAPCTVLNIMLDCDKTATPWCTFS                           281 - 327
//

Text Mined References (21)

PMID Year Title
25568325 2015 Probing the acceptor active site organization of the human recombinant ?1,4-galactosyltransferase 7 and design of xyloside-based inhibitors.
25416956 2014 A proteome-scale map of the human interactome network.
24755949 2015 Expanding the clinical spectrum of B4GALT7 deficiency: homozygous p.R270C mutation with founder effect causes Larsen of Reunion Island syndrome.
24052259 2013 Crystal structures of ?-1,4-galactosyltransferase 7 enzyme reveal conformational changes and substrate binding.
20843813 2010 Identification of key functional residues in the active site of human {beta}1,4-galactosyltransferase 7: a major enzyme in the glycosaminoglycan synthesis pathway.
20809901 2010 Biochemical and thermodynamic characterization of mutated ?1,4-galactosyltransferase 7 involved in the progeroid form of the Ehlers-Danlos syndrome.
20691685 2010 Molecular characterization of ?1,4-galactosyltransferase 7 genetic mutations linked to the progeroid form of Ehlers-Danlos syndrome (EDS).
18158310 2008 Changes in heparan sulfate are associated with delayed wound repair, altered cell migration, adhesion and contractility in the galactosyltransferase I (beta4GalT-7) deficient form of Ehlers-Danlos syndrome.
16583246 2006 Defective glycosylation of decorin and biglycan, altered collagen structure, and abnormal phenotype of the skin fibroblasts of an Ehlers-Danlos syndrome patient carrying the novel Arg270Cys substitution in galactosyltransferase I (beta4GalT-7).
15522873 2005 Phosphorylation and sulfation of oligosaccharide substrates critically influence the activity of human beta1,4-galactosyltransferase 7 (GalT-I) and beta1,3-glucuronosyltransferase I (GlcAT-I) involved in the biosynthesis of the glycosaminoglycan-protein linkage region of proteoglycans.
More...