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
OrthoDB (Group)
Group level
Eukaryota
Group Name
Beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase
Functional Category
  • M: Cell wall/membrane/envelope biogenesis
  • O: Posttranslational modification, protein turnover, chaperones
  • T: Signal transduction mechanisms
Displaying 1 entry
Gene Ontology
transferase activity
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
Disease Ontology
Displaying all 4 entries
DO ID Disease Name Source
DOID:0060462 Desbuquois dysplasia
DOID:2738 pseudoxanthoma elasticum
DOID:557 kidney disease
DOID:9744 type 1 diabetes mellitus
The Human Phenotype Ontology
Displaying entries 1 - 10 of 106 in total
HPO ID HPO Term
HP:0000007 Autosomal recessive inheritance
HP:0000175 Cleft palate
HP:0000193 Bifid uvula
HP:0000252 Microcephaly
HP:0000280 Coarse facial features
HP:0000286 Epicanthus
HP:0000311 Round face
HP:0000343 Long philtrum
HP:0000368 Low-set, posteriorly rotated ears
HP:0000463 Anteverted nares
Displaying all 4 entries
Disease ID Disease Name
OMIM:615777
  • Desbuquois dysplasia 2
OMIM:264800
  • autosomal recessive inherited pseudoxanthoma elasticum
ORPHA:1425
  • Desbuquois dysplasia
ORPHA:370930
  • XYLT1-congenital disorder of glycosylation

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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: December 9, 2024