GXYLT1 is a xylosyltransferase (EC 2.4.2.-) that adds the first xylose to O-glucose-modified residues in the epidermal growth factor (EGF; MIM 131530) repeats of proteins such as NOTCH1 (MIM 190198) (Sethi et al., 2010 [PubMed 19940119]).[supplied by OMIM, Mar 2010] See more...

Aliases for GXYLT1 Gene

Aliases for GXYLT1 Gene

  • Glucoside Xylosyltransferase 1 2 3 4 5
  • Glycosyltransferase 8 Domain-Containing Protein 3 3 4
  • Glycosyltransferase 8 Domain Containing 3 2 3
  • GLT8D3 3 4
  • EC 2.4.2.42 4
  • EC 2.4.1 52

External Ids for GXYLT1 Gene

Previous HGNC Symbols for GXYLT1 Gene

  • GLT8D3

Previous GeneCards Identifiers for GXYLT1 Gene

  • GC12M040763
  • GC12M042476
  • GC12M039502

Summaries for GXYLT1 Gene

Entrez Gene Summary for GXYLT1 Gene

  • GXYLT1 is a xylosyltransferase (EC 2.4.2.-) that adds the first xylose to O-glucose-modified residues in the epidermal growth factor (EGF; MIM 131530) repeats of proteins such as NOTCH1 (MIM 190198) (Sethi et al., 2010 [PubMed 19940119]).[supplied by OMIM, Mar 2010]

GeneCards Summary for GXYLT1 Gene

GXYLT1 (Glucoside Xylosyltransferase 1) is a Protein Coding gene. Diseases associated with GXYLT1 include Dowling-Degos Disease and Adams-Oliver Syndrome. Among its related pathways are Mucin type O-glycan biosynthesis. Gene Ontology (GO) annotations related to this gene include transferase activity, transferring glycosyl groups and UDP-xylosyltransferase activity. An important paralog of this gene is GXYLT2.

UniProtKB/Swiss-Prot Summary for GXYLT1 Gene

  • Glycosyltransferase which elongates the O-linked glucose attached to EGF-like repeats in the extracellular domain of Notch proteins by catalyzing the addition of xylose.

Additional gene information for GXYLT1 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for GXYLT1 Gene

Genomics for GXYLT1 Gene

GeneHancer (GH) Regulatory Elements for GXYLT1 Gene

Promoters and enhancers for GXYLT1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH12J042143 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 512.8 +0.3 286 3.2 HNRNPK CTCF NRF1 TCF12 POLR2G NCOR1 PHF8 TEAD4 ZFX ZNF10 GXYLT1 ZCRB1 LOC101929308
GH12J041287 Enhancer 0.9 Ensembl 25.8 +857.5 857474 2 FOXK2 ZSCAN5C TCF12 ZNF639 ZNF10 ZIC2 ZNF423 FOXA1 TRIM28 KLF7 PPHLN1 GXYLT1 piR-48222-083 PDZRN4 piR-37811
GH12J042324 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 11.4 -181.4 -181427 3.4 ZBTB40 ZNF217 SIN3A USF1 POLR2G GTF2E2 PHF8 ZFX ZIC2 REST ZCRB1 NONHSAG010929.2 lnc-YAF2-1 PPHLN1 ENSG00000257225 ENSG00000252917 GXYLT1 YAF2 piR-30350-016
GH12J042236 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 10.7 -92.6 -92603 4.2 EP300 HNRNPK CTCF SIN3A NRF1 POLR2G USF1 GTF2E2 PHF8 ZFX PPHLN1 YAF2 lnc-GXYLT1-4 ENSG00000257225 GXYLT1 ZCRB1 piR-53431-126
GH12J042119 Enhancer 0.6 Ensembl ENCODE 23.8 +25.8 25768 1.4 FOS GATA2 PRDM1 CEBPB GXYLT1 ENSG00000252917 LOC101929308
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around GXYLT1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for GXYLT1

Genomic Locations for GXYLT1 Gene

Genomic Locations for GXYLT1 Gene
chr12:42,081,845-42,144,874
(GRCh38/hg38)
Size:
63,030 bases
Orientation:
Minus strand
chr12:42,475,647-42,538,681
(GRCh37/hg19)
Size:
63,035 bases
Orientation:
Minus strand

Genomic View for GXYLT1 Gene

Genes around GXYLT1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GXYLT1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GXYLT1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GXYLT1 Gene

Proteins for GXYLT1 Gene

  • Protein details for GXYLT1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q4G148-GXLT1_HUMAN
    Recommended name:
    Glucoside xylosyltransferase 1
    Protein Accession:
    Q4G148
    Secondary Accessions:
    • B3KWJ2
    • Q8IXV1
    • Q96BH4

    Protein attributes for GXYLT1 Gene

    Size:
    440 amino acids
    Molecular mass:
    50567 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for GXYLT1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for GXYLT1 Gene

Selected DME Specific Peptides for GXYLT1 Gene

Q4G148:
  • NSGVMLMN
  • WNYRPDHC
  • KYKLNITWGDQDL
  • SLLYVDTD
  • PLELELQKTVHTYCG
  • HLAVVACG
  • FRAVYEA

Post-translational modifications for GXYLT1 Gene

  • Glycosylation at Ser72, Asn173, Asn237, and Asn278
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect
    • GXLT1_HUMAN (1270)

Other Protein References for GXYLT1 Gene

Domains & Families for GXYLT1 Gene

Gene Families for GXYLT1 Gene

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

Protein Domains for GXYLT1 Gene

Blocks:
  • Glycosyl transferase, family 8
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for GXYLT1 Gene

GenScript: Design optimal peptide antigens:
  • Glycosyltransferase 8 domain-containing protein 3 (GXLT1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q4G148

UniProtKB/Swiss-Prot:

GXLT1_HUMAN :
  • Belongs to the glycosyltransferase 8 family.
Family:
  • Belongs to the glycosyltransferase 8 family.
genes like me logo Genes that share domains with GXYLT1: view

Function for GXYLT1 Gene

Molecular function for GXYLT1 Gene

UniProtKB/Swiss-Prot Function:
Glycosyltransferase which elongates the O-linked glucose attached to EGF-like repeats in the extracellular domain of Notch proteins by catalyzing the addition of xylose.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=3-O-(beta-D-glucosyl)-L-seryl-[EGF-like domain protein] + UDP-alpha-D-xylose = 3-O-[alpha-D-xylosyl-(1->3)-beta-D-glucosyl]-L-seryl-[EGF-like domain protein] + H(+) + UDP; Xref=Rhea:RHEA:56064, Rhea:RHEA-COMP:14610, Rhea:RHEA-COMP:14611, ChEBI:CHEBI:15378, ChEBI:CHEBI:57632, ChEBI:CHEBI:58223, ChEBI:CHEBI:140575, ChEBI:CHEBI:140576; EC=2.4.2.42; Evidence=. ;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=3-O-(beta-D-glucosyl)-L-threonyl-[EGF-like domain protein] + UDP-alpha-D-xylose = 3-O-[alpha-D-xylosyl-(1->3)-beta-D-glucosyl]-L-threonyl-[EGF-like domain protein] + H(+) + UDP; Xref=Rhea:RHEA:56564, Rhea:RHEA-COMP:14612, Rhea:RHEA-COMP:14613, ChEBI:CHEBI:15378, ChEBI:CHEBI:57632, ChEBI:CHEBI:58223, ChEBI:CHEBI:140577, ChEBI:CHEBI:140578; EC=2.4.2.42; Evidence=. ;.

Enzyme Numbers (IUBMB) for GXYLT1 Gene

Phenotypes From GWAS Catalog for GXYLT1 Gene

Gene Ontology (GO) - Molecular Function for GXYLT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016740 transferase activity IEA --
GO:0016757 transferase activity, transferring glycosyl groups IEA --
GO:0035252 UDP-xylosyltransferase activity IDA 19940119
genes like me logo Genes that share ontologies with GXYLT1: view

Phenotypes for GXYLT1 Gene

genes like me logo Genes that share phenotypes with GXYLT1: view

Animal Model Products

CRISPR Products

miRNA for GXYLT1 Gene

miRTarBase miRNAs that target GXYLT1

Clone Products

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for GXYLT1 Gene

Localization for GXYLT1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for GXYLT1 Gene

Membrane; Single-pass type II membrane protein.

Subcellular locations from

COMPARTMENTS
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 GXYLT1 gene
Compartment Confidence
extracellular 2
plasma membrane 1
cytoskeleton 1
endoplasmic reticulum 1
golgi apparatus 1
peroxisome 0

Gene Ontology (GO) - Cellular Components for GXYLT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with GXYLT1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for GXYLT1 Gene

Pathways & Interactions for GXYLT1 Gene

PathCards logo

SuperPathways for GXYLT1 Gene

genes like me logo Genes that share pathways with GXYLT1: view

Pathways by source for GXYLT1 Gene

1 KEGG pathway for GXYLT1 Gene

SIGNOR curated interactions for GXYLT1 Gene

Activates:

Gene Ontology (GO) - Biological Process for GXYLT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016266 O-glycan processing IDA 19940119
genes like me logo Genes that share ontologies with GXYLT1: view

Drugs & Compounds for GXYLT1 Gene

(2) Drugs for GXYLT1 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
UDP-D-Xylose Experimental Pharma 0
Uridine 5'-diphosphate Experimental Pharma 0
genes like me logo Genes that share compounds with GXYLT1: view

Transcripts for GXYLT1 Gene

mRNA/cDNA for GXYLT1 Gene

2 REFSEQ mRNAs :
7 NCBI additional mRNA sequence :
2 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for GXYLT1 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b
SP1:
SP2: -

Relevant External Links for GXYLT1 Gene

GeneLoc Exon Structure for
GXYLT1

Expression for GXYLT1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for GXYLT1 Gene

Protein differential expression in normal tissues from HIPED for GXYLT1 Gene

This gene is overexpressed in Testis (21.9), Retina (9.7), Pancreas (8.4), and Fetal Liver (8.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for GXYLT1 Gene



Protein tissue co-expression partners for GXYLT1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for GXYLT1

SOURCE GeneReport for Unigene cluster for GXYLT1 Gene:

Hs.259347

Evidence on tissue expression from TISSUES for GXYLT1 Gene

  • Liver(4.2)
  • Bone marrow(4.1)
genes like me logo Genes that share expression patterns with GXYLT1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for GXYLT1 Gene

Orthologs for GXYLT1 Gene

This gene was present in the common ancestor of animals.

Orthologs for GXYLT1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia GXYLT1 31 30
  • 99.47 (n)
OneToOne
dog
(Canis familiaris)
Mammalia GXYLT1 31 30
  • 93.26 (n)
OneToOne
cow
(Bos Taurus)
Mammalia GXYLT1 31 30
  • 90.68 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Gxylt1 17 31 30
  • 84.66 (n)
rat
(Rattus norvegicus)
Mammalia Gxylt1 30
  • 82.76 (n)
oppossum
(Monodelphis domestica)
Mammalia GXYLT1 31
  • 82 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GXYLT1 31
  • 75 (a)
OneToOne
chicken
(Gallus gallus)
Aves GXYLT1 31 30
  • 76.28 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GXYLT1 31
  • 76 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia gxylt1 30
  • 73.29 (n)
Str.16514 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.18860 30
zebrafish
(Danio rerio)
Actinopterygii LOC100333154 30
  • 65.38 (n)
CABZ01072254.1 31
  • 64 (a)
OneToMany
gxylt1b 31
  • 54 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG9996 31
  • 44 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.6658 31
  • 41 (a)
ManyToMany
-- 31
  • 37 (a)
ManyToMany
-- 31
  • 33 (a)
ManyToMany
Cin.678 30
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.678 30
Species where no ortholog for GXYLT1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • 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)
  • worm (Caenorhabditis elegans)

Evolution for GXYLT1 Gene

ENSEMBL:
Gene Tree for GXYLT1 (if available)
TreeFam:
Gene Tree for GXYLT1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for GXYLT1: view image

Paralogs for GXYLT1 Gene

Paralogs for GXYLT1 Gene

(1) SIMAP similar genes for GXYLT1 Gene using alignment to 1 proteins:

  • GXLT1_HUMAN
genes like me logo Genes that share paralogs with GXYLT1: view

Variants for GXYLT1 Gene

Additional dbSNP identifiers (rs#s) for GXYLT1 Gene

Structural Variations from Database of Genomic Variants (DGV) for GXYLT1 Gene

Variant ID Type Subtype PubMed ID
esv2025559 CNV deletion 18987734
esv2665869 CNV deletion 23128226
esv2745817 CNV deletion 23290073
esv2745818 CNV deletion 23290073
esv3410033 CNV duplication 20981092
esv3449729 CNV duplication 20981092
esv3629323 CNV loss 21293372
nsv1149663 CNV duplication 26484159
nsv53273 CNV insertion 16902084
nsv973056 CNV duplication 23825009
nsv983314 CNV duplication 23825009

Variation tolerance for GXYLT1 Gene

Residual Variation Intolerance Score: 73.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.81; 34.05% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for GXYLT1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
GXYLT1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for GXYLT1 Gene

Disorders for GXYLT1 Gene

MalaCards: The human disease database

(2) MalaCards diseases for GXYLT1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
dowling-degos disease
  • ddd
adams-oliver syndrome
  • aos
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for GXYLT1

genes like me logo Genes that share disorders with GXYLT1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for GXYLT1 Gene

Publications for GXYLT1 Gene

  1. Identification of glycosyltransferase 8 family members as xylosyltransferases acting on O-glucosylated notch epidermal growth factor repeats. (PMID: 19940119) Sethi MK … Bakker H (The Journal of biological chemistry 2010) 2 3 4 54
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 54
  3. An AP-MS- and BioID-compatible MAC-tag enables comprehensive mapping of protein interactions and subcellular localizations. (PMID: 29568061) Liu X … Varjosalo M (Nature communications 2018) 3 54
  4. Estrogen-regulated feedback loop limits the efficacy of estrogen receptor-targeted breast cancer therapy. (PMID: 29987050) Xiao T … Brown M (Proceedings of the National Academy of Sciences of the United States of America 2018) 3 54
  5. Sensitized genetic backgrounds reveal differential roles for EGF repeat xylosyltransferases in Drosophila Notch signaling. (PMID: 30169771) Pandey A … Jafar-Nejad H (Glycobiology 2018) 3 54

Products for GXYLT1 Gene

Sources for GXYLT1 Gene