Xylt1 Gene Summary [Mouse]
Enables protein xylosyltransferase activity. Involved in chondroitin sulfate proteoglycan biosynthetic process; embryonic skeletal system development; and ossification involved in bone maturation. Acts upstream of or within cellular response to heat. Located in Golgi cis cisterna. Is active in Golgi apparatus. Is expressed in lens. Human ortholog(s) of this gene implicated in Desbuquois dysplasia; pseudoxanthoma elasticum; and type 1 diabetes mellitus. Orthologous to human XYLT1 (xylosyltransferase 1). [provided by Alliance of Genome Resources, Apr 2025]
Details
| Type | Retained Intron |
| Official Symbol | Xylt1 |
| Official Name | xylosyltransferase 1 [Source:MGI Symbol;Acc:MGI:2451073] |
| Ensembl ID | ENSMUSG00000030657 |
| Bio databases IDs | |
| Aliases | xylosyltransferase 1 |
| Synonyms | 8030490L12, DBQD2, DKFZP586F071, LOC283824, PXYLT1, XT1, XT-I, xylosyltransferase 1, XYLTI |
| Species | Mouse, Mus musculus |
| 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 mouse Xylt1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Core-2/I-Branching enzyme
- Xylosyltransferase C terminal
- protein xylosyltransferase
- enzyme
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- neoplasia
- metastasis
- Desbuquois syndrome type 1
- non-insulin-dependent diabetes mellitus
- Desbuquois syndrome type 2
- impotence
- aortic stenosis
- pseudoxanthoma elasticum
- compulsive gambling
- Tourette syndrome
role in cell
- expression in
- binding in
- degradation in
- survival
- response by
- regeneration
- conjugation in
- translocation 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
- Extracellular Space
- cellular membrane
- Golgi Apparatus
- Golgi membrane
- Golgi cisternae
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the mouse Xylt1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- chondroitin sulfate biosynthetic process
- chondroitin sulfate proteoglycan biosynthetic process
- heparan sulfate proteoglycan biosynthetic process
- glycosaminoglycan biosynthetic process
- proteoglycan biosynthetic process
- embryonic skeletal system development
- ossification involved in bone maturation
- glycosaminoglycan metabolic process
Cellular Component
Where in the cell the gene product is active
- extracellular space
- Golgi membrane
- Golgi cis cisterna
Molecular Function
What the gene product does at the molecular level
- metal ion binding
- protein xylosyltransferase activity