B4GALT7 Gene Summary [Human]
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]
Details
| Type | Protein Coding |
| Official Symbol | B4GALT7 |
| Official Name | beta-1,4-galactosyltransferase 7 [Source:HGNC Symbol;Acc:HGNC:930] |
| Ensembl ID | ENSG00000027847 |
| Bio databases IDs | |
| Aliases | beta-1,4-galactosyltransferase 7, galactosyltransferase I |
| Synonyms | beta-1,4-galactosyltransferase 7, EDSP1, EDSSLA, EDSSPD1, UNQ748/PRO1478, XGALT1, XGPT, XGPT1, β-1,4-galactosyltransferase 7 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human B4GALT7 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase
- galactosyltransferase
- N-terminal domain of galactosyltransferase
- enzyme
- protein binding
- xylosylprotein 4-beta-galactosyltransferase
- manganese ion binding
- glycosyltransferase family A
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- progeroid form Ehlers-Danlos syndrome
- Ehlers-Danlos syndrome spondylodysplastic type 1
- hepatocellular carcinoma
- liver cancer
- epithelial cancer
- multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects
- hereditary disorder
regulates
- ERK1/2
- MMP2
- glycosaminoglycan
- proteoglycan
role in cell
- expression in
- phosphorylation in
- proliferation
- invasion by
- organization
- organization in
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- cellular membrane
- Golgi Apparatus
- medial face of the Golgi apparatus
- Golgi membrane
- cis Golgi cisternae
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human B4GALT7 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- glycosylation
- protein modification process
- carbohydrate metabolic process
- negative regulation of fibroblast proliferation
- glycosaminoglycan biosynthetic process
- protein N-linked glycosylation
- proteoglycan biosynthetic process
- proteoglycan metabolic process
- glycosaminoglycan metabolic process
Cellular Component
Where in the cell the gene product is active
- Golgi cisterna membrane
- membrane
- Golgi apparatus
- Golgi membrane
Molecular Function
What the gene product does at the molecular level
- beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity
- protein binding
- galactosyltransferase activity
- manganese ion binding
- xylosylprotein 4-beta-galactosyltransferase activity