AlphaFold predicted structure
XYLT1 · Q86Y38
Mean pLDDT
81.4/ 100
Confident
959 residues
Confidence breakdown
- Very high(≥ 90)69%
- Confident(70–90)5%
- Low(50–70)3%
- Very low(< 50)24%
Open interactive 3D viewer
AlphaFold (Jumper et al., 2021) · CC BY 4.0
XYLT1
Chr 16p12.3xylosyltransferase 1
- Aliases:
- XT-I, PXYLT1
- MANE:
- ENST00000261381.7
Annotations refreshed 1 month ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
Clefting
BIALLELIC, autosomal or pseudoautosomalCongenital disorders of glycosylation
BIALLELIC, autosomal or pseudoautosomalDDG2P
BIALLELIC, autosomal or pseudoautosomalFetal anomalies
BIALLELIC, autosomal or pseudoautosomalIntellectual disability
BIALLELIC, autosomal or pseudoautosomalLikely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalSkeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalUndiagnosed metabolic disorders
BIALLELIC, autosomal or pseudoautosomal
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Disease associations (Open Targets)
Desbuquois dysplasia 2
0.79Desbuquois syndrome
0.66Desbuquois dysplasia 1
0.55Pseudoxanthoma elasticum
0.47neurodegenerative disease
0.42smoking initiation
0.41XYLT1-congenital disorder of glycosylation
0.38Desbuquois dysplasia
0.37corneal disorder
0.34corneal dystrophy
0.34
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
Xylosyltransferase 1
Catalyzes the first step in the biosynthesis of chondroitin sulfate and dermatan sulfate proteoglycans, such as DCN. Transfers D-xylose from UDP-D-xylose to specific serine residues of the core protein (PubMed:15461586, PubMed:17189265, PubMed:23982343, PubMed:24581741). Required for normal embryonic and postnatal skeleton development, especially of the long bones (PubMed:23982343, PubMed:24581741). Required for normal maturation of chondrocytes during bone development, and normal onset of ossification (By similarity)
Diseases associated with XYLT1
Curated MONDO disease pages that list XYLT1 among their top associated genes.