AlphaFold predicted structure
EXT1 · Q16394
Mean pLDDT
84.8/ 100
Confident
746 residues
Confidence breakdown
- Very high(≥ 90)66%
- Confident(70–90)17%
- Low(50–70)8%
- Very low(< 50)9%
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AlphaFold (Jumper et al., 2021) · CC BY 4.0
EXT1
Chr 8q24.11exostosin glycosyltransferase 1
- Aliases:
- ttv
- MANE:
- ENST00000378204.7
Annotations refreshed 1 month ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
Adult solid tumours for rare disease
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedCongenital disorders of glycosylation
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownDDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownFetal anomalies
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownLikely inborn error of metabolism
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownMultiple exostoses
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownSarcoma susceptibility
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedSkeletal dysplasia
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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Disease associations (Open Targets)
exostoses, multiple, type 1
0.83Multiple osteochondromas
0.79chondrosarcoma
0.74hereditary multiple osteochondromas
0.67hereditary multiple exostoses
0.55hereditary disease
0.53trichorhinophalangeal syndrome type II
0.47Langer-Giedion syndrome
0.47atrial fibrillation
0.44intelligence
0.37
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
Exostosin-1
Glycosyltransferase forming with EXT2 the heterodimeric heparan sulfate polymerase which catalyzes the elongation of the heparan sulfate glycan backbone (PubMed:10639137, PubMed:22660413, PubMed:36402845, PubMed:36593275, PubMed:9620772). Glycan backbone extension consists in the alternating transfer of (1->4)-beta-D-GlcA and (1->4)-alpha-D-GlcNAc residues from their respective UDP-sugar donors. Both EXT1 and EXT2 are required for the full activity of the polymerase since EXT1 bears the N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity within the complex while EXT2 carries the glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (PubMed:36402845, PubMed:36593275). Heparan sulfate proteoglycans are ubiquitous components of the extracellular matrix and play an important role in tissue homeostasis and signaling (PubMed:10639137, PubMed:11391482, PubMed:22660413, PubMed:9620772)