{"results":[{"entryType":"UniProtKB reviewed (Swiss-Prot)","primaryAccession":"Q16394","secondaryAccessions":["B2R7V2","Q9BVI9"],"uniProtkbId":"EXT1_HUMAN","entryAudit":{"firstPublicDate":"1997-11-01","lastAnnotationUpdateDate":"2026-09-02","lastSequenceUpdateDate":"2002-03-27","entryVersion":230,"sequenceVersion":2},"annotationScore":5.0,"organism":{"scientificName":"Homo sapiens","commonName":"Human","taxonId":9606,"lineage":["Eukaryota","Metazoa","Chordata","Craniata","Vertebrata","Euteleostomi","Mammalia","Eutheria","Euarchontoglires","Primates","Haplorrhini","Catarrhini","Hominidae","Homo"]},"proteinExistence":"1: Evidence at protein level","proteinDescription":{"recommendedName":{"fullName":{"evidences":[{"evidenceCode":"ECO:0000305","source":"PubMed","id":"11391482"}],"value":"Exostosin-1"},"ecNumbers":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"10639137"}],"value":"2.4.1.225"}]},"alternativeNames":[{"fullName":{"evidences":[{"evidenceCode":"ECO:0000312","source":"HGNC","id":"HGNC:3512"}],"value":"Exostosin glycosyltransferase 1"}},{"fullName":{"evidences":[{"evidenceCode":"ECO:0000303","source":"PubMed","id":"36593275"}],"value":"Heparan sulfate co-polymerase subunit EXT1"}},{"fullName":{"evidences":[{"evidenceCode":"ECO:0000303","source":"PubMed","id":"7550340"}],"value":"Multiple exostoses protein 1"}},{"fullName":{"evidences":[{"evidenceCode":"ECO:0000305","source":"PubMed","id":"36593275"}],"value":"N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase"}}]},"genes":[{"geneName":{"evidences":[{"evidenceCode":"ECO:0000312","source":"HGNC","id":"HGNC:3512"}],"value":"EXT1"}}],"comments":[{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"10639137"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"11391482"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"22660413"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"36402845"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"36593275"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"9620772"}],"value":"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)"}],"commentType":"FUNCTION"},{"commentType":"CATALYTIC ACTIVITY","reaction":{"name":"3-O-{alpha-D-GlcNAc-[(1->4)-beta-D-GlcA-(1->4)-alpha-D-GlcNAc](n)-(1->4)-beta-D-GlcA-(1->3)-beta-D-Gal-(1->3)-beta-D-Gal-(1->4)-beta-D-Xyl}-L-seryl-[protein] + UDP-alpha-D-glucuronate = 3-O-{[(1->4)-beta-D-GlcA-(1->4)-alpha-D-GlcNAc](n+1)-(1->4)-beta-D-GlcA-(1->3)-beta-D-Gal-(1->3)-beta-D-Gal-(1->4)-beta-D-Xyl}-L-seryl-[protein] + UDP + H(+)","reactionCrossReferences":[{"database":"Rhea","id":"RHEA:20908"},{"database":"Rhea","id":"RHEA-COMP:12623"},{"database":"Rhea","id":"RHEA-COMP:14295"},{"database":"ChEBI","id":"CHEBI:15378"},{"database":"ChEBI","id":"CHEBI:58052"},{"database":"ChEBI","id":"CHEBI:58223"},{"database":"ChEBI","id":"CHEBI:132415"},{"database":"ChEBI","id":"CHEBI:132416"}],"ecNumber":"2.4.1.225","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"10639137"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"36593275"}]},"physiologicalReactions":[{"directionType":"left-to-right","reactionCrossReference":{"database":"Rhea","id":"RHEA:20909"},"evidences":[{"evidenceCode":"ECO:0000305","source":"PubMed","id":"10639137"}]}]},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"10639137"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"11391482"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"22660413"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"9620772"}],"value":"Protein modification; protein glycosylation"}],"commentType":"PATHWAY"},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"10639137"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"10679296"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"35137078"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"36402845"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"36593275"}],"value":"Part of the heparan sulfate polymerase, a dimeric complex composed of EXT1 and EXT2 (PubMed:10639137, PubMed:10679296, PubMed:36402845, PubMed:36593275). Could also form homooligomeric complexes (PubMed:10679296). Interacts with NDST1 (PubMed:35137078)"}],"commentType":"SUBUNIT"},{"commentType":"INTERACTION","interactions":[{"interactantOne":{"uniProtKBAccession":"Q16394","intActId":"EBI-1046007"},"interactantTwo":{"uniProtKBAccession":"Q93063","geneName":"EXT2","intActId":"EBI-1047761"},"numberOfExperiments":10,"organismDiffer":false}]},{"commentType":"SUBCELLULAR LOCATION","note":{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"10639137"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"10679296"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"9620772"}],"value":"The active heparan sulfate polymerase complex composed of EXT1 and EXT2 is localized to the Golgi apparatus. 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EXT is a dominantly inherited skeletal disorder primarily affecting endochondral bone during growth. The disease is characterized by formation of numerous cartilage-capped, benign bone tumors (osteocartilaginous exostoses or osteochondromas) that are often accompanied by skeletal deformities and short stature. In a small percentage of cases exostoses have exhibited malignant transformation resulting in an osteosarcoma or chondrosarcoma. Osteochondromas development can also occur as a sporadic event.","diseaseCrossReference":{"database":"MIM","id":"133700"},"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"10441575"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"10480354"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"10639137"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"10679296"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"11169766"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"11391482"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"8981950"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"9326317"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"9463333"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"9521425"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"9620772"}]},"note":{"texts":[{"value":"The disease is caused by variants affecting the gene represented in this entry"}]}},{"commentType":"DISEASE","disease":{"diseaseId":"Chondrosarcoma","diseaseAccession":"DI-02741","acronym":"CHDSA","description":"A malignant neoplasm derived from cartilage cells. 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