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Aliases for XYLT1 Gene

Aliases for XYLT1 Gene

  • Xylosyltransferase 1 2
  • Xylosyltransferase I 2 3 4 5
  • Peptide O-Xylosyltransferase 1 3 4
  • EC 4 63
  • XylT-I 3 4
  • XT-I 3 4
  • XT1 3 4
  • Protein Xylosyltransferase 1 2
  • Beta-D-Xylosyltransferase 1 3
  • Xylosyltransferase Iota 3
  • O-Xylosyltransferase 1 3
  • PXYLT1 3
  • DBQD2 3
  • XYLTI 3
  • XTI 3

External Ids for XYLT1 Gene

Previous GeneCards Identifiers for XYLT1 Gene

  • GC16P017598
  • GC16P016874
  • GC16M017128
  • GC16M017167
  • GC16M017108
  • GC16M017103
  • GC16M017196
  • GC16M016198

Summaries for XYLT1 Gene

Entrez Gene Summary for XYLT1 Gene

  • This locus encodes a xylosyltransferase enzyme. The encoded protein catalyzes transfer of UDP-xylose to serine residues of an acceptor protein substrate. This transfer reaction is necessary for biosynthesis of glycosaminoglycan chains. Mutations in this gene have been associated with increased severity of pseudoxanthoma elasticum.[provided by RefSeq, Nov 2009]

GeneCards Summary for XYLT1 Gene

XYLT1 (Xylosyltransferase 1) is a Protein Coding gene. Diseases associated with XYLT1 include Desbuquois Dysplasia 2 and Pseudoxanthoma Elasticum. Among its related pathways are heparan sulfate biosynthesis and Metabolism. GO annotations related to this gene include acetylglucosaminyltransferase activity and protein xylosyltransferase activity. An important paralog of this gene is XYLT2.

UniProtKB/Swiss-Prot for XYLT1 Gene

  • Catalyzes the first step in biosynthesis of glycosaminoglycan. Transfers D-xylose from UDP-D-xylose to specific serine residues of the core protein. Initial enzyme in the biosynthesis of chondroitin sulfate and dermatan sulfate proteoglycans in fibroblasts and chondrocytes.

Gene Wiki entry for XYLT1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for XYLT1 Gene

Genomics for XYLT1 Gene

Regulatory Elements for XYLT1 Gene

Enhancers for XYLT1 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around XYLT1 on UCSC Golden Path with GeneCards custom track

Promoters for XYLT1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around XYLT1 on UCSC Golden Path with GeneCards custom track

Genomic Location for XYLT1 Gene

17,101,769 bp from pter
17,470,881 bp from pter
369,113 bases
Minus strand

Genomic View for XYLT1 Gene

Genes around XYLT1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
XYLT1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for XYLT1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for XYLT1 Gene

Proteins for XYLT1 Gene

  • Protein details for XYLT1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Xylosyltransferase 1
    Protein Accession:
    Secondary Accessions:
    • Q9H1B6

    Protein attributes for XYLT1 Gene

    959 amino acids
    Molecular mass:
    107569 Da
    Name=a divalent metal cation; Xref=ChEBI:CHEBI:60240;
    Quaternary structure:
    • Monomer.
    • Activity is strongly reduced in seminal plasma of unfertile men.

neXtProt entry for XYLT1 Gene

Proteomics data for XYLT1 Gene at MOPED

Post-translational modifications for XYLT1 Gene

Other Protein References for XYLT1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for XYLT1 Gene

Protein Domains for XYLT1 Gene

Suggested Antigen Peptide Sequences for XYLT1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the glycosyltransferase 14 family. XylT subfamily.
  • Belongs to the glycosyltransferase 14 family. XylT subfamily.
genes like me logo Genes that share domains with XYLT1: view

Function for XYLT1 Gene

Molecular function for XYLT1 Gene

UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=0.9 uM for recombinant bikunin {ECO:0000269 PubMed:15294915, ECO:0000269 PubMed:15461586}; Vmax=764 pmol/h/mg enzyme with recombinant bikunin as substrate {ECO:0000269 PubMed:15294915, ECO:0000269 PubMed:15461586};
UniProtKB/Swiss-Prot CatalyticActivity:
Transfers a beta-D-xylosyl residue from UDP-D-xylose to the serine hydroxy group of an acceptor protein substrate.
UniProtKB/Swiss-Prot Function:
Catalyzes the first step in biosynthesis of glycosaminoglycan. Transfers D-xylose from UDP-D-xylose to specific serine residues of the core protein. Initial enzyme in the biosynthesis of chondroitin sulfate and dermatan sulfate proteoglycans in fibroblasts and chondrocytes.

Enzyme Numbers (IUBMB) for XYLT1 Gene

genes like me logo Genes that share phenotypes with XYLT1: view

Human Phenotype Ontology for XYLT1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

miRNA for XYLT1 Gene

miRTarBase miRNAs that target XYLT1

No data available for Gene Ontology (GO) - Molecular Function , Animal Models , Transcription Factor Targets and HOMER Transcription for XYLT1 Gene

Localization for XYLT1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for XYLT1 Gene

Endoplasmic reticulum membrane; Single-pass type II membrane protein. Golgi apparatus membrane; Single-pass type II membrane protein. Secreted. Note=Some fraction is also found in the extracellular space together with chondroitin sulfate proteoglycans, suggesting that it can be secreted.

Subcellular locations from

Jensen Localization Image for XYLT1 Gene COMPARTMENTS Subcellular localization image for XYLT1 gene
Compartment Confidence
golgi apparatus 5
endoplasmic reticulum 4
extracellular 4
lysosome 1
mitochondrion 1
vacuole 1

Gene Ontology (GO) - Cellular Components for XYLT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005789 endoplasmic reticulum membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with XYLT1: view

Pathways & Interactions for XYLT1 Gene

genes like me logo Genes that share pathways with XYLT1: view

UniProtKB/Swiss-Prot Q86Y38-XYLT1_HUMAN

  • Pathway: Glycan metabolism; chondroitin sulfate biosynthesis.
  • Pathway: Glycan metabolism; heparan sulfate biosynthesis.

Interacting Proteins for XYLT1 Gene

STRING Interaction Network Preview (showing 1 interactants - click image to see details)
Selected Interacting proteins: ENSP00000261381 Q86Y38-XYLT1_HUMAN for XYLT1 Gene via STRING I2D

Gene Ontology (GO) - Biological Process for XYLT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0030206 chondroitin sulfate biosynthetic process IEA --
genes like me logo Genes that share ontologies with XYLT1: view

No data available for SIGNOR curated interactions for XYLT1 Gene

Drugs & Compounds for XYLT1 Gene

(3) Drugs for XYLT1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(9) Additional Compounds for XYLT1 Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
  • b-Heparin
  • beta-Heparin
  • Chondroitin sulfate B
  • Chondroitin sulfate type B
  • Chondroitin sulphate B
  • alpha-D-Xylopyranosyl ester
  • alpha-delta-Xylopyranosyl ester
  • UDP Xylose
  • UDP-alpha
  • UDP-D-Xylose
genes like me logo Genes that share compounds with XYLT1: view

Transcripts for XYLT1 Gene

mRNA/cDNA for XYLT1 Gene

(2) REFSEQ mRNAs :
(7) Additional mRNA sequences :
(8) Selected AceView cDNA sequences:
(4) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for XYLT1 Gene

Xylosyltransferase I:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for XYLT1 Gene

No ASD Table

Relevant External Links for XYLT1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for XYLT1 Gene

mRNA expression in normal human tissues for XYLT1 Gene

Protein differential expression in normal tissues from HIPED for XYLT1 Gene

This gene is overexpressed in Urine (55.6) and Vitreous humor (6.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for XYLT1 Gene

SOURCE GeneReport for Unigene cluster for XYLT1 Gene Hs.22907

mRNA Expression by UniProt/SwissProt for XYLT1 Gene

Tissue specificity: Widely expressed. Expressed at higher level in placenta, kidney and pancreas. Weakly expressed in skeletal muscle.
genes like me logo Genes that share expression patterns with XYLT1: view

Protein tissue co-expression partners for XYLT1 Gene

Primer Products

No data available for mRNA differential expression in normal tissues for XYLT1 Gene

Orthologs for XYLT1 Gene

This gene was present in the common ancestor of animals.

Orthologs for XYLT1 Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia XYLT1 35
  • 89.47 (n)
  • 93.33 (a)
XYLT1 36
  • 95 (a)
(Canis familiaris)
Mammalia XYLT1 35
  • 88.48 (n)
  • 91.65 (a)
XYLT1 36
  • 94 (a)
(Mus musculus)
Mammalia Xylt1 35
  • 86.77 (n)
  • 91.13 (a)
Xylt1 16
Xylt1 36
  • 92 (a)
(Pan troglodytes)
Mammalia XYLT1 35
  • 99.19 (n)
  • 99.36 (a)
XYLT1 36
  • 100 (a)
(Rattus norvegicus)
Mammalia Xylt1 35
  • 87.52 (n)
  • 93.19 (a)
(Monodelphis domestica)
Mammalia XYLT1 36
  • 85 (a)
(Ornithorhynchus anatinus)
Mammalia XYLT1 36
  • 81 (a)
(Gallus gallus)
Aves XYLT1 35
  • 78.14 (n)
  • 85.21 (a)
XYLT1 36
  • 82 (a)
(Anolis carolinensis)
Reptilia XYLT1 36
  • 53 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia xylt1 35
African clawed frog
(Xenopus laevis)
Amphibia Xl.17213 35
(Danio rerio)
Actinopterygii xylt1 35
  • 69.81 (n)
  • 71.57 (a)
xylt1 36
  • 68 (a)
fruit fly
(Drosophila melanogaster)
Insecta oxt 37
  • 41 (a)
oxt 35
  • 53.03 (n)
  • 43.09 (a)
oxt 36
  • 35 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005811 35
  • 50.8 (n)
  • 41.34 (a)
(Caenorhabditis elegans)
Secernentea Y50D4C.4 37
  • 39 (a)
sqv-6 36
  • 25 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 40 (a)
Species with no ortholog for XYLT1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for XYLT1 Gene

Gene Tree for XYLT1 (if available)
Gene Tree for XYLT1 (if available)

Paralogs for XYLT1 Gene

Paralogs for XYLT1 Gene

(1) SIMAP similar genes for XYLT1 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with XYLT1: view

Variants for XYLT1 Gene

Sequence variations from dbSNP and Humsavar for XYLT1 Gene

SNP ID Clin Chr 16 pos Sequence Context AA Info Type
rs28709752 - 17,198,217(+) CTGAT(C/G/T)GGGTA reference, synonymous-codon
rs12325439 - 17,117,907(+) CACCG(C/G)CTCAT reference, missense
rs7200466 - 17,117,688(+) CGCAA(C/T)GAGGA reference, missense
rs35309694 - 17,108,900(+) TCCTC(C/T)GTGCC reference, missense
rs61758388 Pseudoxanthoma elasticum (PXE) 17,470,454(-) GGGGG(G/T)CACTG reference, missense

Structural Variations from Database of Genomic Variants (DGV) for XYLT1 Gene

Variant ID Type Subtype PubMed ID
nsv435664 CNV Deletion 17901297
esv2714015 CNV Deletion 23290073
nsv457428 CNV Gain 19166990
dgv2631n71 CNV Gain 21882294
nsv7278 OTHER Inversion 18451855
nsv905506 CNV Loss 21882294
nsv905509 CNV Gain 21882294
nsv905510 CNV Gain 21882294
esv2751550 CNV Gain 17911159
nsv833153 CNV Gain 17160897
esv2714035 CNV Deletion 23290073
esv1009408 CNV Deletion 20482838
esv1343982 CNV Deletion 17803354
esv2714036 CNV Deletion 23290073
esv2714037 CNV Deletion 23290073
nsv103826 CNV Loss 16902084
nsv905514 CNV Gain 21882294
esv268467 CNV Insertion 20981092
nsv1749 CNV Loss 18451855
nsv905515 CNV Gain 21882294
nsv833154 CNV Loss 17160897
nsv905516 CNV Loss 21882294
dgv482e199 CNV Deletion 23128226
esv2714038 CNV Deletion 23290073
dgv465n67 CNV Loss 20364138
nsv905517 CNV Gain 21882294
dgv820e1 CNV Complex 17122850
esv587 CNV CNV 17122850
esv270381 CNV Insertion 20981092
nsv1750 CNV Insertion 18451855
nsv827580 CNV Gain 20364138

Variation tolerance for XYLT1 Gene

Residual Variation Intolerance Score: 10.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.29; 85.17% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for XYLT1 Gene

Human Gene Mutation Database (HGMD)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for XYLT1 Gene

Disorders for XYLT1 Gene

MalaCards: The human disease database

(7) MalaCards diseases for XYLT1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
desbuquois dysplasia 2
  • dbqd2
pseudoxanthoma elasticum
  • pseudoxanthoma elasticum, modifier of severity of
desbuquois dysplasia
  • desbuquois syndrome
eastern equine encephalitis
  • eee
- elite association - COSMIC cancer census association via MalaCards
Search XYLT1 in MalaCards View complete list of genes associated with diseases


  • Desbuquois dysplasia 2 (DBQD2) [MIM:615777]: A chondrodysplasia characterized by severe prenatal and postnatal growth retardation (less than -5 SD), joint laxity, short extremities, progressive scoliosis, round face, midface hypoplasia, prominent bulging eyes. The main radiologic features are short long bones with metaphyseal splay, a Swedish key appearance of the proximal femur (exaggerated trochanter), and advance carpal and tarsal bone age. Two forms of Desbuquois dysplasia are distinguished on the basis of the presence or absence of characteristic hand anomalies: an extra ossification center distal to the second metacarpal, delta phalanx, bifid distal thumb phalanx, and phalangeal dislocations. {ECO:0000269 PubMed:23982343, ECO:0000269 PubMed:24581741}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Pseudoxanthoma elasticum (PXE) [MIM:264800]: A multisystem disorder characterized by accumulation of mineralized and fragmented elastic fibers in the skin, vascular walls, and Burch membrane in the eye. Clinically, patients exhibit characteristic lesions of the posterior segment of the eye including peau dorange, angioid streaks, and choroidal neovascularizations, of the skin including soft, ivory colored papules in a reticular pattern that predominantly affect the neck and large flexor surfaces, and of the cardiovascular system with peripheral and coronary arterial occlusive disease as well as gastrointestinal bleedings. {ECO:0000269 PubMed:16571645}. Note=The gene represented in this entry acts as a disease modifier.

Relevant External Links for XYLT1

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with XYLT1: view

No data available for Genatlas for XYLT1 Gene

Publications for XYLT1 Gene

  1. Molecular cloning and expression of human UDP-D-xylose:proteoglycan core protein beta-D-xylosyltransferase and its first isoform XT-II. (PMID: 11099377) Goetting C. … Kleesiek K. (J. Mol. Biol. 2000) 2 3 4 23 67
  2. The missing "link": an autosomal recessive short stature syndrome caused by a hypofunctional XYLT1 mutation. (PMID: 23982343) Schreml J. … Ozkinay F. (Hum. Genet. 2014) 2 3
  3. High xylosyltransferase activity in children and during mineralization of osteoblast-like SAOS-2 cells. (PMID: 18763033) Prante C. … GAPtting C. (Glycoconj. J. 2009) 3 23
  4. The xylosyltransferase Iota gene polymorphism c.343G>T (p.A115S) is associated with decreased serum glycosaminoglycan levels. (PMID: 19014925) Ambrosius M. … GAPtting C. (Clin. Biochem. 2009) 3 23
  5. Xylosyltransferase gene variants and their role in essential hypertension. (PMID: 19197251) PAPnighaus C. … GAPtting C. (Am. J. Hypertens. 2009) 3 23

Products for XYLT1 Gene

Sources for XYLT1 Gene