B4GALT7 (beta-1,4-galactosyltransferase 7)

2008-05-01  

Identity

HGNC
B4GALT7
LOCATION
5q35.3
LOCUSID
11285
ALIAS
EDSP1,EDSSLA,EDSSPD1,XGALT1,XGPT,XGPT1
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 11285
MIM: 604327
HGNC: 930
Ensembl: ENSG00000027847

Variants:

dbSNP: 11285
ClinVar: 11285
TCGA: ENSG00000027847
COSMIC: B4GALT7

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000027847ENST00000029410Q9UBV7
ENSG00000027847ENST00000505433D6RJI5
ENSG00000027847ENST00000505468D6RDJ8
ENSG00000027847ENST00000507061H0Y9D6
ENSG00000027847ENST00000510761D6RA33

Expression (GTEx)

0
5
10
15
20
25
30
35
40
45
50
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfateKEGGko00532
Glycosaminoglycan biosynthesis - heparan sulfate / heparinKEGGko00534
Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfateKEGGhsa00532
Glycosaminoglycan biosynthesis - heparan sulfate / heparinKEGGhsa00534
Metabolic pathwaysKEGGhsa01100
Glycosaminoglycan biosynthesis, linkage tetrasaccharideKEGGhsa_M00057
Glycosaminoglycan biosynthesis, linkage tetrasaccharideKEGGM00057
MetabolismREACTOMER-HSA-1430728
Metabolism of carbohydratesREACTOMER-HSA-71387
Glycosaminoglycan metabolismREACTOMER-HSA-1630316
Heparan sulfate/heparin (HS-GAG) metabolismREACTOMER-HSA-1638091
A tetrasaccharide linker sequence is required for GAG synthesisREACTOMER-HSA-1971475
Chondroitin sulfate/dermatan sulfate metabolismREACTOMER-HSA-1793185

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
165832462006Defective 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).38
247559492015Expanding the clinical spectrum of B4GALT7 deficiency: homozygous p.R270C mutation with founder effect causes Larsen of Reunion Island syndrome.22
155228732005Phosphorylation 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.18
181583102008Changes 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.13
208099012010Biochemical and thermodynamic characterization of mutated β1,4-galactosyltransferase 7 involved in the progeroid form of the Ehlers-Danlos syndrome.10
240522592013Crystal structures of β-1,4-galactosyltransferase 7 enzyme reveal conformational changes and substrate binding.9
269401502016Further defining the phenotypic spectrum of B4GALT7 mutations.9
206916852010Molecular characterization of β1,4-galactosyltransferase 7 genetic mutations linked to the progeroid form of Ehlers-Danlos syndrome (EDS).7
208438132010Identification of key functional residues in the active site of human {beta}1,4-galactosyltransferase 7: a major enzyme in the glycosaminoglycan synthesis pathway.5
255683252015Probing the acceptor active site organization of the human recombinant β1,4-galactosyltransferase 7 and design of xyloside-based inhibitors.4

Citation

Dessen P

B4GALT7 (beta-1,4-galactosyltransferase 7)

Atlas Genet Cytogenet Oncol Haematol. 2008-05-01

Online version: http://atlasgeneticsoncology.org/gene/50103/b4galt7