XYLT1 Gene Summary [Human]
This locus encodes a xylosyltransferase enzyme. The encoded protein catalyzes transfer of UDP-xylose to serine residues of an acceptor protein substrate. This transfer reaction is necessary for biosynthesis of glycosaminoglycan chains. Mutations in this gene have been associated with increased severity of pseudoxanthoma elasticum.[provided by RefSeq, Nov 2009]
Details
| Type | Protein Coding |
| Official Symbol | XYLT1 |
| Official Name | xylosyltransferase 1 [Source:HGNC Symbol;Acc:HGNC:15516] |
| Ensembl ID | ENSG00000103489 |
| Bio databases IDs | |
| Aliases | xylosyltransferase 1, protein xylosyltransferase 1 |
| Synonyms | 8030490L12, DBQD2, DKFZP586F071, LOC283824, PXYLT1, XT1, XT-I, xylosyltransferase 1, XYLTI |
| 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 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 human 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