{"entity":{"id":"ext1","kind":"target","name":"EXT1","aka":["exostosin glycosyltransferase 1","Exostosin-1","ttv"],"tldr":"EXT1 (Exostosin-1) is an enzyme. In the public catalogues the evidence so far is association rather than a proven role. Tied to Sarcomas, Breast cancer, Ovarian cancer and 2 more.","summary":"Glycosyltransferase forming with EXT2 the heterodimeric heparan sulfate polymerase which catalyses the elongation of the heparan sulfate glycan backbone. 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.\n\nOpen Targets scores its association with cancer at 0.84 (direct and indirect evidence; datatypes genetic literature 0.81, affected pathway 0.30, literature 0.94, genetic association 0.75, somatic mutation 0.89, animal model 0.72).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:3512","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3512"},{"label":"UniProt Q16394","url":"https://www.uniprot.org/uniprotkb/Q16394/entry"},{"label":"NCBI Gene 2131","url":"https://www.ncbi.nlm.nih.gov/gene/2131"},{"label":"Ensembl ENSG00000182197","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000182197"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["sarcoma","breast-cancer","ovarian","skin-cancer","chondrosarcoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"EXT1","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:3512","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3512","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q16394","url":"https://www.uniprot.org/uniprotkb/Q16394/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000182197","url":"https://platform.opentargets.org/target/ENSG00000182197/associations","note":"association with cancer (MONDO_0004992) 0.84; per-cancer scores at or above 0.5: ovarian cancer 0.52, sarcoma 0.76, skin cancer 0.51, breast cancer 0.58, chondrosarcoma 0.75 (GraphQL API, CC0)"}],"hgnc":"HGNC:3512","ensembl":"ENSG00000182197","uniprot":"Q16394","entrez":"2131","biology":"Glycosyltransferase forming with EXT2 the heterodimeric heparan sulfate polymerase which catalyses the elongation of the heparan sulfate glycan backbone. 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. Heparan sulfate proteoglycans are ubiquitous components of the extracellular matrix and play an important role in tissue homeostasis and signalling. Location: Golgi apparatus membrane; Golgi apparatus, cis-Golgi network membrane; Endoplasmic reticulum membrane (UniProt). Locus 8q24.11 (HGNC).","whereFound":["Sarcomas: Open Targets association 0.76 with sarcoma (MONDO_0005089)","Breast cancer: Open Targets association 0.58 with breast cancer (MONDO_0007254)","Ovarian cancer: Open Targets association 0.52 with ovarian cancer (MONDO_0008170)","Skin cancer: Open Targets association 0.51 with skin cancer (MONDO_0002898)","Chondrosarcoma: Open Targets association 0.75 with chondrosarcoma (MONDO_0008977)"],"targetClass":"enzyme","prevalence":[]},"route":"/targets/ext1/","neighbours":{"collection":[{"id":"open-targets","kind":"collection","name":"Open Targets Platform","route":"/collections/open-targets/"}],"cancer":[{"id":"breast-cancer","kind":"cancer","name":"Breast cancer (all types)","route":"/cancers/breast-cancer/"},{"id":"chondrosarcoma","kind":"cancer","name":"Chondrosarcoma","route":"/cancers/chondrosarcoma/"},{"id":"ovarian","kind":"cancer","name":"Ovarian cancer","route":"/cancers/ovarian/"},{"id":"sarcoma","kind":"cancer","name":"Sarcomas (soft tissue, bone, GIST)","route":"/cancers/sarcoma/"},{"id":"skin-cancer","kind":"cancer","name":"Skin cancer (all types)","route":"/cancers/skin-cancer/"}]}}