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

• Q16394
• B2R7V2
• Q9BVI9

Gene Name

• EXT1

Ensembl ID

• ENST00000378204
• ENSP00000367446
• ENSG00000182197

Symbol

• EXT
• LGS
• TTV
• LGCR
• TRPS2

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

Protein Classes

PANTHER Classes

Protein / Transferase / Glycosyltransferase / Exostosin-1

DTO Classes

Protein / Enzyme / Transferase / Glycosyltransferase / Exostosin-1

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: 313.28   (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: 313.28   (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

Protein Sequence and Structure

Residue Counts

Protein Sequence

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Expression Data (0 Tissues)

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No expression data found

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.

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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.

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GlyGen

GlyGen is a data integration and dissemination project for carbohydrate and glycoconjugate related data.

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ARCHS4

ARCHS4 provides access to gene-function predictions based on RNA-seq co-expression, and gene expression levels across cell and tissues.

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Approved Drugs (0)

No approved drugs found

Active Ligands (0)

No active ligands found

Protein-Protein Interactions (96)

Explore Interacting Targets

1 – 10 of 96

• See Interactions on String-DB

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

Nearest Tclin Targets

Nearest Tclin calculations are only available for targets with KEGG Pathway annotations.

Pathways (15)

Reactome (10)

KEGG (2)

UniProt (1)

WikiPathways (2)

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

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5

1 – 5 of 10

Data Source	Name	Explore in Pharos	Explore in Source
Reactome	Defective EXT1 causes exostoses 1, TRPS2 and CHDS	14 targets	R-HSA-3656253
Reactome	Defective EXT2 causes exostoses 2	14 targets	R-HSA-3656237
Reactome	Disease	1105 targets	R-HSA-1643685
Reactome	Diseases associated with glycosaminoglycan metabolism	41 targets	R-HSA-3560782
Reactome	Diseases of glycosylation	146 targets	R-HSA-3781865

Name	Explore in Pharos	Explore in Source
Defective EXT1 causes exostoses 1, TRPS2 and CHDS	14 targets	R-HSA-3656253
Defective EXT2 causes exostoses 2	14 targets	R-HSA-3656237
Disease	1105 targets	R-HSA-1643685
Diseases associated with glycosaminoglycan metabolism	41 targets	R-HSA-3560782
Diseases of glycosylation	146 targets	R-HSA-3781865

Viral Interactions (0)

No viral interactions found

Gene Ontology Terms (29)

Functions (9)

Components (6)

Processes (14)

Find Similar Targets

Items per page:

10

1 – 9 of 9

GO Term	Evidence	Assigned by
acetylglucosaminyltransferase activity	Inferred from Direct Assay (IDA)	BHF-UCL
glucuronosyltransferase activity	Inferred from Direct Assay (IDA)	BHF-UCL
protein homodimerization activity	Inferred from Direct Assay (IDA)	BHF-UCL
transferase activity, transferring glycosyl groups	Inferred from Direct Assay (IDA)	BHF-UCL
protein heterodimerization activity	Inferred from Physical Interaction (IPI)	BHF-UCL
glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity	Inferred from Sequence or structural Similarity (ISS)	UniProtKB
N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity	Inferred from Sequence or structural Similarity (ISS)	UniProtKB
heparan sulfate N-acetylglucosaminyltransferase activity	Non-traceable Author Statement (NAS)	BHF-UCL
metal ion binding	Inferred from Electronic Annotation (IEA)	UniProtKB-KW

Disease Associations ()

No disease associations found

GWAS Traits (11)

• Explore on Target Illumination GWAS Analytics (TIGA)

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5

1 – 5 of 11

GWAS Trait	EFO ID	Study Count	SNP Count	Beta Count	Odds Ratio	Evidence (Mean Rank Score)	Provenance
basophil count	EFO_0005090	3	2	3		83.8
mathematical ability	EFO_0004875	3	3	3		68
self reported educational attainment	EFO_0004784	1	1	1		61
body mass index	EFO_0004340	2	1	2		57.3
cognitive function measurement	EFO_0008354	1	1	1		46.9

• Explore on Target Illumination GWAS Analytics (TIGA)

Items per page:

5

1 – 5 of 11

GWAS Trait	EFO ID	Beta Count	Odds Ratio	Evidence (Mean Rank Score)	Provenance
basophil count	EFO_0005090	3		83.8
mathematical ability	EFO_0004875	3		68
self reported educational attainment	EFO_0004784	1		61
body mass index	EFO_0004340	2		57.3
cognitive function measurement	EFO_0008354	1		46.9

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Find similar targets by:

UniProt Keyword Find Similar Targets

No Header	No Header
Complete proteome
Disease mutation
Disulfide bond
Endoplasmic reticulum
Glycoprotein
Glycosyltransferase
Golgi apparatus
Hereditary multiple exostoses
Manganese
Membrane

GWAS Trait Find Similar Targets

No Header	No Header
basophil count
body height
body mass index
cognitive function measurement
household income
intelligence
lifestyle measurement
mathematical ability
self reported educational attainment
smoking status measurement

MGI Phenotype Find Similar Targets

No Header	No Header
behavior/neurological phenotype
cellular phenotype
craniofacial phenotype
digestive/alimentary phenotype
embryo phenotype
growth/size/body region phenotype
hearing/vestibular/ear phenotype
integument phenotype
limbs/digits/tail phenotype
mortality/aging

IDG Resources

No IDG generated resources found

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	exostoses (multiple) 1	MGI:894663	14042
Rat	exostosin glycosyltransferase 1	RGD:1587375	299907
Dog	exostosin glycosyltransferase 1	VGNC:40531	482024

Species	Name	OMA	EggNOG	Inparanoid
Chimp	exostosin glycosyltransferase 1
Macaque	exostosin glycosyltransferase 1
Mouse	exostoses (multiple) 1
Rat	exostosin glycosyltransferase 1
Dog	exostosin glycosyltransferase 1

Publication Statistics

PubMed Score 313.28

PubMed score by year

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PubTator Score 214.13

PubTator score by year

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Related Publications

Text Mined References (96)

GeneRif Annotations (69)

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10

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PMID	Year	Title