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Aliases for XXYLT1 Gene

Aliases for XXYLT1 Gene

  • Xyloside Xylosyltransferase 1 2 3 5
  • UDP-Xylose:Alpha-Xyloside Alpha-1,3-Xylosyltransferase 3 4
  • C3orf21 3 4
  • Chromosome 3 Open Reading Frame 21 2
  • EC 2.4.2.n3 4

External Ids for XXYLT1 Gene

Previous HGNC Symbols for XXYLT1 Gene

  • C3orf21

Previous GeneCards Identifiers for XXYLT1 Gene

  • GC03M194790

Summaries for XXYLT1 Gene

GeneCards Summary for XXYLT1 Gene

XXYLT1 (Xyloside Xylosyltransferase 1) is a Protein Coding gene. Gene Ontology (GO) annotations related to this gene include transferase activity, transferring glycosyl groups and transferase activity, transferring pentosyl groups. An important paralog of this gene is LARGE1.

UniProtKB/Swiss-Prot for XXYLT1 Gene

  • Alpha-1,3-xylosyltransferase, which elongates the O-linked xylose-glucose disaccharide attached to EGF-like repeats in the extracellular domain of target proteins by catalyzing the addition of the second xylose (PubMed:22117070, PubMed:8982869). Known targets include Notch proteins and coagulation factors, such as F9 (PubMed:22117070, PubMed:8982869).

Additional gene information for XXYLT1 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for XXYLT1 Gene

Genomics for XXYLT1 Gene

GeneHancer (GH) Regulatory Elements for XXYLT1 Gene

Promoters and enhancers for XXYLT1 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH03I195269 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 585 +0.0 19 2.4 PKNOX1 CLOCK FOXA2 MLX ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 XXYLT1 ACAP2 LINC00969 GC03P195246
GH03I195146 Promoter/Enhancer 2.3 FANTOM5 Ensembl ENCODE dbSUPER 20.3 +114.1 114126 20.3 MLX DMAP1 IRF4 SLC30A9 ZNF143 MEF2D SSRP1 GLIS1 RCOR2 NBN XXYLT1 SDHAP1 LINC00969 SDHAP2 RNU6-25P FAM43A LSG1 RNU6ATAC24P MIR570 XXYLT1-AS2
GH03I195177 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 18.4 +90.3 90327 7.1 HDGF ATF1 PKNOX1 ARNT TCF12 ZNF121 ZNF766 GATA2 FOS NCOA1 XXYLT1 RNU6-25P XXYLT1-AS2 RN7SL36P LOC105374296 GC03P195215
GH03I195352 Enhancer 1.1 Ensembl ENCODE 24 -81.9 -81915 1.8 HDAC1 ATF1 NFRKB RAD21 ZBTB40 SCRT2 RCOR1 ATF7 SMARCA5 CAVIN1 XXYLT1 ACAP2 RPL31P22 ENSG00000207368 GC03M195420
GH03I195440 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 11.1 -171.0 -170993 3.8 HDGF PKNOX1 CLOCK ARID4B NEUROD1 SIN3A DMAP1 YY1 SLC30A9 ZNF207 ACAP2 LSG1 XXYLT1 SDHAP2 SDHAP1 ENSG00000207368 GC03M195420
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around XXYLT1 on UCSC Golden Path with GeneCards custom track

Genomic Locations for XXYLT1 Gene

Genomic Locations for XXYLT1 Gene
202,892 bases
Minus strand

Genomic View for XXYLT1 Gene

Genes around XXYLT1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
XXYLT1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for XXYLT1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for XXYLT1 Gene

Proteins for XXYLT1 Gene

  • Protein details for XXYLT1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Xyloside xylosyltransferase 1
    Protein Accession:
    Secondary Accessions:
    • D3DNW5
    • Q8NAL3
    • Q8WV03
    • Q96ME0

    Protein attributes for XXYLT1 Gene

    393 amino acids
    Molecular mass:
    43807 Da
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420; Name=Mn(2+); Xref=ChEBI:CHEBI:29035;
    Quaternary structure:
    • Homodimer (PubMed:22117070). Dimer formation may be essential for the retention in endoplasmic reticulum (Probable).
    • Sequence=AAH19036.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Alternative splice isoforms for XXYLT1 Gene


neXtProt entry for XXYLT1 Gene

Post-translational modifications for XXYLT1 Gene

  • Ubiquitination at isoforms=2, 3321
  • Glycosylation at isoforms=67 and isoforms=77

No data available for DME Specific Peptides for XXYLT1 Gene

Domains & Families for XXYLT1 Gene

Gene Families for XXYLT1 Gene

Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins
  • Predicted secreted proteins

Protein Domains for XXYLT1 Gene

Suggested Antigen Peptide Sequences for XXYLT1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the glycosyltransferase 8 family.
  • Belongs to the glycosyltransferase 8 family.
genes like me logo Genes that share domains with XXYLT1: view

Function for XXYLT1 Gene

Molecular function for XXYLT1 Gene

UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=0.28 mM for UDP-alpha-D-xylose {ECO:0000269 PubMed:8982869}; pH dependence: Optimum pH is 7.2. {ECO:0000269 PubMed:8982869};
UniProtKB/Swiss-Prot CatalyticActivity:
UDP-alpha-D-xylose + alpha-D-xylose-(1->3)-beta-D-glucosyl-R = UDP + alpha-D-xylose-(1->3)-alpha-D-xylose-(1->3)-beta-D-glucosyl-R.
UniProtKB/Swiss-Prot Function:
Alpha-1,3-xylosyltransferase, which elongates the O-linked xylose-glucose disaccharide attached to EGF-like repeats in the extracellular domain of target proteins by catalyzing the addition of the second xylose (PubMed:22117070, PubMed:8982869). Known targets include Notch proteins and coagulation factors, such as F9 (PubMed:22117070, PubMed:8982869).

Enzyme Numbers (IUBMB) for XXYLT1 Gene

Phenotypes From GWAS Catalog for XXYLT1 Gene

Gene Ontology (GO) - Molecular Function for XXYLT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000287 magnesium ion binding IDA 8982869
GO:0016740 transferase activity IEA --
GO:0016757 transferase activity, transferring glycosyl groups IEA --
GO:0030145 manganese ion binding IDA 8982869
GO:0035252 UDP-xylosyltransferase activity IDA 8982869
genes like me logo Genes that share ontologies with XXYLT1: view
genes like me logo Genes that share phenotypes with XXYLT1: view

Animal Models for XXYLT1 Gene

MGI Knock Outs for XXYLT1:

miRNA for XXYLT1 Gene

miRTarBase miRNAs that target XXYLT1

Clone Products

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for XXYLT1 Gene

Localization for XXYLT1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for XXYLT1 Gene

Endoplasmic reticulum membrane; Single-pass type II membrane protein.

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for XXYLT1 gene
Compartment Confidence
endoplasmic reticulum 5
mitochondrion 2
cytosol 2
golgi apparatus 2
plasma membrane 1
lysosome 1

Gene Ontology (GO) - Cellular Components for XXYLT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IEA --
GO:0005789 endoplasmic reticulum membrane IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0030176 integral component of endoplasmic reticulum membrane IDA 22117070
genes like me logo Genes that share ontologies with XXYLT1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for XXYLT1 Gene

Pathways & Interactions for XXYLT1 Gene

SuperPathways for XXYLT1 Gene

No Data Available

Interacting Proteins for XXYLT1 Gene

SIGNOR curated interactions for XXYLT1 Gene


Gene Ontology (GO) - Biological Process for XXYLT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016266 O-glycan processing IDA 8982869
genes like me logo Genes that share ontologies with XXYLT1: view

No data available for Pathways by source for XXYLT1 Gene

Drugs & Compounds for XXYLT1 Gene

(1) Drugs for XXYLT1 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Uridine-5'-Diphosphate Experimental Pharma 0

(1) Additional Compounds for XXYLT1 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
  • alpha-D-Xylopyranosyl ester
  • alpha-delta-Xylopyranosyl ester
  • UDP Xylose
  • UDP-alpha
  • UDP-D-Xylose
genes like me logo Genes that share compounds with XXYLT1: view

Transcripts for XXYLT1 Gene

Unigene Clusters for XXYLT1 Gene

Xyloside xylosyltransferase 1:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for XXYLT1 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13a · 13b · 13c · 13d · 13e
SP1: - - - - -
SP2: - - - - - - - - -
SP4: - - - -
SP5: - - -
SP6: - -
SP7: - - -

Relevant External Links for XXYLT1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for XXYLT1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for XXYLT1 Gene

Protein differential expression in normal tissues from HIPED for XXYLT1 Gene

This gene is overexpressed in Pancreas (27.2), Bone (16.9), and Plasma (11.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for XXYLT1 Gene

NURSA nuclear receptor signaling pathways regulating expression of XXYLT1 Gene:


SOURCE GeneReport for Unigene cluster for XXYLT1 Gene:


Evidence on tissue expression from TISSUES for XXYLT1 Gene

  • Kidney(4.1)
  • Nervous system(4.1)
genes like me logo Genes that share expression patterns with XXYLT1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for XXYLT1 Gene

Orthologs for XXYLT1 Gene

This gene was present in the common ancestor of animals.

Orthologs for XXYLT1 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia XXYLT1 33 34
  • 99.32 (n)
(Canis familiaris)
Mammalia XXYLT1 34
  • 93 (a)
(Bos Taurus)
Mammalia XXYLT1 33 34
  • 92.09 (n)
(Mus musculus)
Mammalia Xxylt1 33 16 34
  • 89.46 (n)
(Rattus norvegicus)
Mammalia Xxylt1 33
  • 88.86 (n)
(Ornithorhynchus anatinus)
Mammalia XXYLT1 34
  • 77 (a)
(Gallus gallus)
Aves XXYLT1 33
  • 70.55 (n)
(Anolis carolinensis)
Reptilia XXYLT1 34
  • 65 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia c3orf21 33
  • 68.54 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.19504 33
(Danio rerio)
Actinopterygii LOC100334669 33
  • 64.53 (n)
XXYLT1 (1 of 2) 34
  • 60 (a)
XXYLT1 (2 of 2) 34
  • 60 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007604 33
  • 55.02 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG11388 33 34
  • 54.43 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.8510 34
  • 30 (a)
Species where no ortholog for XXYLT1 was found in the sources mined by GeneCards:
  • 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)
  • oppossum (Monodelphis domestica)
  • 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)
  • worm (Caenorhabditis elegans)

Evolution for XXYLT1 Gene

Gene Tree for XXYLT1 (if available)
Gene Tree for XXYLT1 (if available)

Paralogs for XXYLT1 Gene

Paralogs for XXYLT1 Gene

genes like me logo Genes that share paralogs with XXYLT1: view

Variants for XXYLT1 Gene

Sequence variations from dbSNP and Humsavar for XXYLT1 Gene

SNP ID Clin Chr 03 pos Variation AA Info Type
rs1000004223 -- 195,227,003(-) C/T genic_upstream_transcript_variant, intron_variant
rs1000028339 -- 195,224,471(-) C/T genic_upstream_transcript_variant, intron_variant
rs1000044717 -- 195,104,652(-) G/A genic_downstream_transcript_variant, intron_variant
rs1000045725 -- 195,232,461(-) A/C genic_upstream_transcript_variant, intron_variant
rs1000060523 -- 195,111,362(-) G/A genic_downstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for XXYLT1 Gene

Variant ID Type Subtype PubMed ID
dgv2677n106 CNV deletion 24896259
dgv2678n106 CNV deletion 24896259
dgv8827n54 CNV gain+loss 21841781
dgv8828n54 CNV gain 21841781
esv2038835 CNV deletion 18987734
esv2675653 CNV deletion 23128226
esv2726461 CNV deletion 23290073
esv28466 CNV loss 19812545
esv33213 CNV loss 17666407
esv3378262 CNV insertion 20981092
esv3417334 CNV insertion 20981092
esv3563146 CNV deletion 23714750
esv3563150 CNV deletion 23714750
esv3569210 CNV loss 25503493
esv3599226 CNV gain 21293372
esv3778 CNV loss 18987735
esv996963 CNV deletion 20482838
nsv1001492 CNV gain 25217958
nsv1009796 CNV gain 25217958
nsv1114471 CNV deletion 24896259
nsv1117360 CNV tandem duplication 24896259
nsv1123726 CNV deletion 24896259
nsv1139193 CNV deletion 24896259
nsv436791 CNV insertion 17901297
nsv461126 CNV loss 19166990
nsv592981 CNV loss 21841781
nsv592982 CNV loss 21841781
nsv592983 CNV loss 21841781
nsv592984 CNV loss 21841781
nsv592990 CNV loss 21841781
nsv819035 CNV loss 19587683
nsv822407 CNV loss 20364138
nsv950296 CNV deletion 24416366
nsv950297 CNV deletion 24416366
nsv950298 CNV deletion 24416366

Variation tolerance for XXYLT1 Gene

Residual Variation Intolerance Score: 73.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.99; 49.74% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for XXYLT1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for XXYLT1 Gene

Disorders for XXYLT1 Gene

Additional Disease Information for XXYLT1

No disorders were found for XXYLT1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for XXYLT1 Gene

Publications for XXYLT1 Gene

  1. Molecular cloning of a xylosyltransferase that transfers the second xylose to O-glucosylated epidermal growth factor repeats of notch. (PMID: 22117070) Sethi MK … Bakker H (The Journal of biological chemistry 2012) 2 3 4 58
  2. Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA libraries. (PMID: 16303743) Otsuki T … Isogai T (DNA research : an international journal for rapid publication of reports on genes and genomes 2005) 3 4 58
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58
  5. Detection of UDP-D-xylose: alpha-D-xyloside alpha 1-->3xylosyltransferase activity in human hepatoma cell line HepG2. (PMID: 8982869) Minamida S … Hase S (Journal of biochemistry 1996) 3 4 58

Products for XXYLT1 Gene

Sources for XXYLT1 Gene

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