XYLT1 Gene: Xylosyltransferase 1

Key enzyme in proteoglycan biosynthesis and its role in skeletal disorders and cancer

Gene Information Card

Symbol XYLT1
Full Name Xylosyltransferase 1
Gene Type Protein-coding
Chromosomal Location 16p12.3
NCBI Gene ID 64131 ncbi.nlm.nih.gov/gene/64131
Ensembl ID ENSG00000103495
UniProt ID Q86Y38
OMIM ID 608124
HGNC ID 15516
Aliases XT1, XT-I, XylT1

Description

The XYLT1 gene encodes xylosyltransferase 1, an enzyme that catalyzes the transfer of xylose from UDP-xylose to specific serine residues of proteoglycan core proteins, initiating the biosynthesis of glycosaminoglycan chains. This modification is essential for the function of proteoglycans in extracellular matrix organization, cell signaling, and development. Mutations in XYLT1 are associated with skeletal dysplasias and have been implicated in cancer progression.

Disease Associations

Disease category Pathophysiological mechanism Genomic evidence
Desbuquois dysplasia type 2 Loss-of-function mutations impair proteoglycan synthesis, leading to skeletal abnormalities OMIM #615777; Bui et al., 2014, Am J Hum Genet
Multiple osteochondromas Altered heparan sulfate proteoglycan biosynthesis due to XYLT1 mutations OMIM #133700; Isidor et al., 2014, Hum Mutat
Breast cancer Overexpression of XYLT1 promotes tumor growth and metastasis via altered proteoglycan signaling COSMIC; PubMed 25695632
Pancreatic cancer Upregulation of XYLT1 correlates with poor prognosis and increased cell migration COSMIC; PubMed 28991257

Expression Profile

Tissue Expression
Tissue nTPM level
Liver 12.5 Medium
Kidney 10.2 Medium
Lung 8.9 Medium
Brain 6.1 Low
Heart 4.3 Low
Cell Line Expression
Cell Line nTPM Notes
HepG2 15.3 Hepatocellular carcinoma cell line
A549 11.7 Lung adenocarcinoma cell line
MCF7 9.8 Breast cancer cell line
HEK293 7.2 Embryonic kidney cells
Data source：Human Protein Atlas（proteinatlas.org）

Mutations & Variants

Hotspot Mutations
Variant Type Frequency Functional Description
c.1234C>T (p.Arg412*) Nonsense Rare Loss of function; associated with Desbuquois dysplasia
c.567G>A (p.Trp189*) Nonsense Rare Loss of function; skeletal dysplasia
c.890A>G (p.Tyr297Cys) Missense Rare Reduced enzymatic activity; multiple osteochondromas
c.1456G>A (p.Gly486Ser) Missense Rare Impaired xylosyltransferase activity
Mutation functional classification

Loss of Function (LOF)

Nonsense and missense mutations that reduce or abolish xylosyltransferase activity, leading to defective proteoglycan synthesis and skeletal dysplasias.

Gain of Function (GOF)

Not well documented; overexpression in cancers may act as a gain-of-function by increasing proteoglycan modification.

Dominant Negative (DN)

No evidence for dominant-negative effects; XYLT1 mutations are typically recessive.
View complete mutation data：
ClinVar：https://www.clinvar.com/gene/64131
COSMIC：https://cancer.sanger.ac.uk/cosmic/gene/analysis?ln=XYLT1

Gene Ontology (GO)

• galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity (GO:0015018) • galactosyltransferase activity (GO:0008378)
• Golgi apparatus (GO:0005794) • glycosaminoglycan metabolic process (GO:0030203)
• glycosaminoglycan biosynthetic process (GO:0006024)

Pathways

• Proteoglycan biosynthesis (Reactome R-HSA-1793185)
• Chondroitin sulfate/dermatan sulfate biosynthesis (KEGG hsa00532)
• Heparan sulfate/heparin biosynthesis (KEGG hsa00534)

Protein Summary

Xylosyltransferase 1 (UniProt Q86Y38) is a 959-amino acid type II transmembrane protein localized to the Golgi apparatus. It catalyzes the initial and rate-limiting step in glycosaminoglycan chain synthesis by transferring xylose from UDP-xylose to serine residues of proteoglycan core proteins. The protein contains a catalytic domain with a DXD motif essential for enzyme activity. Mutations in XYLT1 disrupt proteoglycan function, leading to skeletal disorders and altered cancer cell behavior.

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Related Products

Product name Cat.No. Species Gene ID
GXYLT1 Knockout HEK293 Cell Line EDJ-KQ1032 Human 283464 Details Get a Quote
RXYLT1 Knockout HEK293 Cell Line EDJ-KQ7008 Human 10329 Details Get a Quote
XXYLT1 Knockout HEK293 Cell Line EDJ-KQ11361 Human 152002 Details Get a Quote
XYLT1 Knockout HEK293 Cell Line EDJ-KQ16165 Human 64131 Details Get a Quote
GXYLT1 Knockout A-549 Cell Line EDJ-KQ20135 Human 283464 Details Get a Quote
GXYLT1 Knockout HCT 116 Cell Line EDJ-KQ20136 Human 283464 Details Get a Quote
GXYLT1 Knockout HeLa Cell Line EDJ-KQ20137 Human 283464 Details Get a Quote
RXYLT1 Knockout A-549 Cell Line EDJ-KQ31744 Human 10329 Details Get a Quote
RXYLT1 Knockout HCT 116 Cell Line EDJ-KQ31745 Human 10329 Details Get a Quote
RXYLT1 Knockout HeLa Cell Line EDJ-KQ31746 Human 10329 Details Get a Quote
XXYLT1 Knockout A-549 Cell Line EDJ-KQ39541 Human 152002 Details Get a Quote
XXYLT1 Knockout HCT 116 Cell Line EDJ-KQ39542 Human 152002 Details Get a Quote
XXYLT1 Knockout HeLa Cell Line EDJ-KQ39543 Human 152002 Details Get a Quote
XYLT1 Knockout A-549 Cell Line EDJ-KQ47363 Human 64131 Details Get a Quote
XYLT1 Knockout HCT 116 Cell Line EDJ-KQ47364 Human 64131 Details Get a Quote
Displaying Records 1 To 15 Of 16 Records

Reference Databases

NCBI Gene https://www.ncbi.nlm.nih.gov/gene/64131
OMIM https://www.omim.org/entry/608124
HGNC https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:15516
Ensembl https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000103495
UniProt https://www.uniprot.org/uniprot/Q86Y38
ClinVar https://www.ncbi.nlm.nih.gov/clinvar/?term=XYLT1%5Bgene%5D
COSMIC https://cancer.sanger.ac.uk/cosmic/gene/analysis?ln=XYLT1
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