GXYLT1 Gene Summary [Human]

GXYLT1 is a xylosyltransferase (EC 2.4.2.-) that adds the first xylose to O-glucose-modified residues in the epidermal growth factor (EGF; MIM 131530) repeats of proteins such as NOTCH1 (MIM 190198) (Sethi et al., 2010 [PubMed 19940119]).[supplied by OMIM, Mar 2010]

Details

Type
Protein Coding
Official Symbol
GXYLT1
Official Name
glucoside xylosyltransferase 1 [Source:HGNC Symbol;Acc:HGNC:27482]
Ensembl ID
ENSG00000151233
Bio databases IDs NCBI: 283464 Ensembl: ENSG00000151233
Aliases glucoside xylosyltransferase 1
Synonyms GLT8D3, glucoside xylosyltransferase 1, Gm1228, Gm87
Species
Human, Homo sapiens
OrthologiesMouseRat

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 GXYLT1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • enzyme
  • xylosyltransferase
  • UDP-glycosyltransferase
  • Glycosyl transferase family 8
  • 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
  • Parkinson disease
  • colorectal cancer
  • preeclampsia
regulated by
regulates
  • O-glycan

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

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human GXYLT1 gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • O-glycan processing

Cellular Component

Where in the cell the gene product is active
  • membrane

Molecular Function

What the gene product does at the molecular level
  • UDP-xylosyltransferase activity

Gene-Specific Assays for Results You Can Trust

Streamline your workflow with assays designed for this gene. Our targeted dPCR and qPCR assays help you generate meaningful data – efficiently and accurately.