xylosyltransferase 1

Summary
Gene Symbol
  • XYLT1
Aliases
  • PXYLT1
  • XT-I
  • protein xylosyltransferase 1
Organism
Homo sapiens (human)
NCBI Gene
64131
GGDB ID
HGNC
15516
mRNA
map
  • 16p12
Protein
OMIM
KEGG Gene ID
hsa:64131
PubChem
64131
Alliance of Genome Resources
Annotation
Keyword
  • 3D-structure
  • Direct protein sequencing
  • Disease variant
  • Disulfide bond
  • Dwarfism
  • Glycoprotein
  • Glycosyltransferase
  • Golgi apparatus
  • Metal-binding
  • Reference proteome
  • Secreted
  • Signal-anchor
  • Transmembrane helix
Proteins
Displaying 1 entry
UniProt Protein Name
Q86Y38
  • Peptide O-xylosyltransferase 1
  • Xylosyltransferase I
Gene Ontology (GO)
GO Hierarchy
GlycoGene Database (GGDB)
GGDB ID
gg169
Gene Symbol
  • XYLT1
Orthologous Gene
KEGG BRITE Database
Orthology
K00771
Name
protein xylosyltransferase [EC:2.4.2.26]
References
Disease
The Human Phenotype Ontology
Displaying entries 71 - 80 of 106 in total
HPO ID HPO Term
HP:0002999 Patellar dislocation
HP:0003015 Flared metaphysis
HP:0003016 Metaphyseal widening
HP:0003026 Short long bone
HP:0003042 Elbow dislocation
HP:0003048 Radial head subluxation
HP:0003180 Flat acetabular roof
HP:0003366 Abnormal femoral neck/head morphology
HP:0003510 Severe short stature
HP:0004209 Clinodactyly of the 5th finger
Displaying all 4 entries
Disease ID Disease Name
ORPHA:1425
  • Desbuquois dysplasia
OMIM:264800
  • autosomal recessive inherited pseudoxanthoma elasticum
ORPHA:370930
  • XYLT1-congenital disorder of glycosylation
OMIM:615777
  • Desbuquois dysplasia 2

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: February 17, 2025