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Tbio
EXT1
Exostosin-1

Protein Summary
Description
Glycosyltransferase required for the biosynthesis of heparan-sulfate. The EXT1/EXT2 complex possesses substantially higher glycosyltransferase activity than EXT1 or EXT2 alone. Appears to be a tumor suppressor. Required for the exosomal release of SDCBP, CD63 and syndecan (PubMed:22660413). This gene encodes an endoplasmic reticulum-resident type II transmembrane glycosyltransferase involved in the chain elongation step of heparan sulfate biosynthesis. Mutations in this gene cause the type I form of multiple exostoses. [provided by RefSeq, Jul 2008]
Uniprot Accession IDs
Gene Name
Ensembl ID
  • ENST00000378204
  • ENSP00000367446
  • ENSG00000182197

Symbol
  • EXT
  • LGS
  • TTV
  • LGCR
  • TRPS2
Illumination Graph
Knowledge Table
Most Knowledge About
Knowledge Value (0 to 1 scale)
PubMedID
0.95
kinase perturbation
0.93
transcription factor binding site profile
0.91
transcription factor perturbation
0.88
trait
0.86


Related Tools
Target Illumination GWAS Analytics (TIGA)
TIGA scores and ranks GWAS discovered associations according to the quantity and quality of the evidence supporting the association.
GENEVA
GENEVA (GENe Expression Variance Analysis) allows you to identify RNA-sequencing datasets from the Gene Expression Omnibus (GEO) that contain conditions modulating a gene or a gene signature.
GlyGen
GlyGen is a data integration and dissemination project for carbohydrate and glycoconjugate related data.
ARCHS4
ARCHS4 provides access to gene-function predictions based on RNA-seq co-expression, and gene expression levels across cell and tissues.
IDG Development Level Summary
Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 306.2   (req: < 5)
Gene RIFs: 69   (req: <= 3)
Antibodies: 224   (req: <= 50)
Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 306.2   (req: >= 5)
Gene RIFs: 69   (req: > 3)
Antibodies: 224   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 23
Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 0
Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0
GWAS Traits (9)
GWAS Trait
EFO ID
Study Count
SNP Count
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
mathematical ability
3
3
3
90.5
self reported educational attainment
1
1
1
84.5
basophil count
3
2
3
84.4
body mass index
2
1
2
83.5
cognitive function measurement
1
1
1
74.4
GWAS Trait
EFO ID
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
mathematical ability
3
90.5
self reported educational attainment
1
84.5
basophil count
3
84.4
body mass index
2
83.5
cognitive function measurement
1
74.4
Orthologs (11)
1 – 5 of 11
Species
Name
Source ID
Gene ID
OMA
EggNOG
Inparanoid
Chimp
exostosin glycosyltransferase 1
VGNC:12003
464349
Macaque
exostosin glycosyltransferase 1
701488
Mouse
MGI:894663
14042
Rat
RGD:1587375
299907
Dog
exostosin glycosyltransferase 1
VGNC:40531
482024
Species
Name
OMA
EggNOG
Inparanoid
Chimp
exostosin glycosyltransferase 1
Macaque
exostosin glycosyltransferase 1
Mouse
Rat
Dog
exostosin glycosyltransferase 1
Protein Structure (0 Structures, 1 AlphaFold Model)
RepresentationColor Scheme
AF-Q16394-F1-model_v1

AlphaFold Structures Developed by DeepMind and EMBL-EBI

Pathways (15)
Defective EXT1 causes exostoses 1, TRPS2 and CHDS (R-HSA-3656253)

Click on a row in the table to change the structure displayed.

Items per page:
1 – 5 of 10
Data Source
Name
Explore in Pharos
Explore in Source
Reactome
Defective EXT1 causes exostoses 1, TRPS2 and CHDS
Reactome
Defective EXT2 causes exostoses 2
Reactome
Disease
Reactome
Diseases associated with glycosaminoglycan metabolism
Reactome
Diseases of glycosylation
Name
Explore in Pharos
Explore in Source
Defective EXT1 causes exostoses 1, TRPS2 and CHDS
Defective EXT2 causes exostoses 2
Disease
Diseases associated with glycosaminoglycan metabolism
Diseases of glycosylation
Gene Ontology Terms (29)
Items per page:
10
1 – 9 of 9
GO Term
Evidence
Assigned by
Inferred from Direct Assay (IDA)
BHF-UCL
Inferred from Direct Assay (IDA)
BHF-UCL
Inferred from Direct Assay (IDA)
BHF-UCL
Inferred from Direct Assay (IDA)
BHF-UCL
Inferred from Physical Interaction (IPI)
BHF-UCL
Inferred from Sequence or structural Similarity (ISS)
UniProtKB
Inferred from Sequence or structural Similarity (ISS)
UniProtKB
Non-traceable Author Statement (NAS)
BHF-UCL
Inferred from Electronic Annotation (IEA)
UniProtKB-KW
Protein-Protein Interactions (96)
1 – 10 of 96
ZP2
Tbio
Novelty: 0.00310166
p_int: 0.999913297
p_ni: 0.000085941
p_wrong: 7.62e-7
Data Source: BioPlex
SCGB2A1
Tbio
Novelty: 0.01902973
p_int: 0.999201732
p_ni: 0.000798268
Data Source: BioPlex
EXT2
Tbio
Family: Enzyme
Novelty: 0.00480574
p_int: 0.995706036
p_ni: 0.004293964
Score: 0.955
Data Source: BioPlex,Reactome,STRINGDB
SCGB2A2
Tbio
Novelty: 0.01594053
p_int: 0.993534049
p_ni: 0.006465951
Score: 0.164
Data Source: BioPlex,STRINGDB
ERGIC3
Tbio
Novelty: 0.11095443
p_int: 0.990752855
p_ni: 0.009247145
Score: 0.22
Data Source: BioPlex,STRINGDB
PTCH1
Tbio
Novelty: 0.00077635
p_int: 0.987348231
p_ni: 0.012651769
Score: 0.355
Data Source: BioPlex,STRINGDB
B4GAT1
Tbio
Family: Enzyme
Novelty: 0.14959923
p_int: 0.984093387
p_ni: 0.015906613
Score: 0.385
Data Source: BioPlex,STRINGDB
PEX19
Tbio
Novelty: 0.00605342
p_int: 0.978684488
p_ni: 0.021315509
p_wrong: 3e-9
Data Source: BioPlex
GRAMD1B
Tbio
Novelty: 0.2994102
p_int: 0.97053692
p_ni: 0.029462311
p_wrong: 7.69e-7
Data Source: BioPlex
LRRC55
Tbio
Family: IC
Novelty: 0.25121277
p_int: 0.968087754
p_ni: 0.031908532
p_wrong: 0.000003714
Data Source: BioPlex
Publication Statistics
PubMed Score  306.20

PubMed score by year
PubTator Score  214.13

PubTator score by year
Amino Acid Sequence
Residue Counts
Protein Sequence
ProtVista Viewer
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