Gene description for EXT1
Gene name exostosin glycosyltransferase 1
Gene symbol EXT1
Other names/aliases EXT
LGCR
LGS
TRPS2
TTV
Species Homo sapiens
 Database cross references - EXT1
ExoCarta ExoCarta_2131
Entrez Gene 2131
HGNC 3512
MIM 608177
UniProt Q16394  
 EXT1 identified in exosomes derived from the following tissue/cell type
Endothelial cells 26027894    
 Gene ontology annotations for EXT1
Molecular Function
    protein homodimerization activity GO:0042803 IDA
    metal ion binding GO:0046872 IEA
    transferase activity, transferring glycosyl groups GO:0016757 IDA
    heparan sulfate N-acetylglucosaminyltransferase activity GO:0042328 NAS
    acetylglucosaminyltransferase activity GO:0008375 IDA
    glucuronosyltransferase activity GO:0015020 IDA
    glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity GO:0050508 NAS
    protein heterodimerization activity GO:0046982 IPI
    N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity GO:0050509 NAS
Biological Process
    olfactory bulb development GO:0021772 IEA
    endoderm development GO:0007492 IEA
    mesoderm development GO:0007498 IEA
    heparan sulfate proteoglycan biosynthetic process GO:0015012 ISS
    embryonic skeletal joint development GO:0072498 IEA
    protein glycosylation GO:0006486 IEA
    skeletal system development GO:0001501 TAS
    cellular polysaccharide biosynthetic process GO:0033692 IDA
    heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process GO:0015014 IMP
    gastrulation GO:0007369 IEA
    ossification GO:0001503 IMP
    axon guidance GO:0007411 IEA
    signal transduction GO:0007165 TAS
    carbohydrate metabolic process GO:0005975 TAS
    small molecule metabolic process GO:0044281 TAS
    glycosaminoglycan metabolic process GO:0030203 TAS
    glycosaminoglycan biosynthetic process GO:0006024 TAS
Subcellular Localization
    endoplasmic reticulum membrane GO:0005789 NAS
    Golgi apparatus GO:0005794 IDA
    Golgi membrane GO:0000139 TAS
    endoplasmic reticulum GO:0005783 IDA
    integral component of endoplasmic reticulum membrane GO:0030176 ISS
    integral component of membrane GO:0016021 TAS
 Experiment description of studies that identified EXT1 in exosomes
1
Experiment ID 226
ISEV standards
EM
EV Biophysical techniques
GAPDH
EV Cytosolic markers
CD9|FLOT1
EV Membrane markers
LMNA|H2AFX|ATP5A1|TOMM20
EV Negative markers
EV Particle analysis
Identified molecule mRNA
Identification method Small RNA sequencing (Illumina HiSeq 2000 (Solexa)
PubMed ID 26027894    
Organism Homo sapiens
Experiment description Quantitative and qualitative analysis of small RNAs in human endothelial cells and exosomes provides insights into localized RNA processing, degradation and sorting
Authors Bas W. M. van Balkom, Almut S. Eisele, D. Michiel Pegtel, Sander Bervoets, Marianne C. Verhaar
Journal name Journal of Extracellular Vesicles
Publication year 2015
Sample Endothelial cells
Sample name HMEC-1
Isolation/purification methods Differential ultracentrifugation
Sucrose density gradient
Flotation density 1.10 g/mL
Molecules identified in the study miRNA
Protein
snoRNA
lncRNA
yRNA
snRNA
mRNA
ncRNA
mtRNA
vtRNA
scaRNA
lincRNA
Methods used in the study Small RNA sequencing (Illumina HiSeq 2000 (Solexa)
Western blotting
 Protein-protein interactions for EXT1
  Protein Interactor ExoCarta ID Identification method PubMed Species
1 EXT2 2132
Invivo Homo sapiens
Invitro Homo sapiens
Affinity Capture-MS Homo sapiens
Affinity Capture-Western Homo sapiens
2 CNTF  
Affinity Capture-MS Homo sapiens
3 TRAP1 10131
Invitro Homo sapiens
Two-hybrid Homo sapiens
4 EXT1 2131
Invivo Homo sapiens
Invitro Homo sapiens
Affinity Capture-MS Homo sapiens
Affinity Capture-Western Homo sapiens
Invivo Homo sapiens
Invitro Homo sapiens
Affinity Capture-MS Homo sapiens
Affinity Capture-Western Homo sapiens
5 OSTF1 26578
Affinity Capture-MS Homo sapiens
View the network image/svg+xml
 Pathways in which EXT1 is involved
PathwayEvidenceSource
Defective EXT1 causes exostoses 1, TRPS2 and CHDS TAS Reactome
HS-GAG biosynthesis TAS Reactome





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