AutismKB 2.0

Annotation Details for EXT1


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Basic Information Top
Gene Symbol:EXT1 ( EXT,LGCR,LGS,TRPS2,TTV )
Gene Full Name: exostosin 1
Band: 8q24.11
Quick LinksEntrez ID:2131; OMIM: 608177; Uniprot ID:EXT1_HUMAN; ENSEMBL ID: ENSG00000182197; HGNC ID: 3512
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0000139TAS-Golgi membrane12907669
GO:0005783IDA-endoplasmic reticulum9620772
GO:0005789NAS-endoplasmic reticulum membrane9620772
GO:0005794IDA-Golgi apparatus10639137
GO:0016021TAS-integral component of membrane9620772
GO:0030176ISS-integral component of endoplasmic reticulum membrane-
GO ID Evidence Qualifier GO_term References
GO:0008375IDA-acetylglucosaminyltransferase activity12907669
GO:0015020IDA-glucuronosyltransferase activity12907669
GO:0016757IDA-transferase activity, transferring glycosyl groups12907669
GO:0042328NAS-heparan sulfate N-acetylglucosaminyltransferase activity12907669
GO:0042803IDA-protein homodimerization activity12907669
GO:0046872IEA-metal ion binding-
GO:0046982IPI-protein heterodimerization activity12907669
GO:0050508ISS-glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity-
GO:0050508NAS-glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity12907669
GO:0050509ISS-N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity-
GO:0050509NAS-N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity12907669
GO ID Evidence Qualifier GO_term References
GO:0001501TAS-skeletal system development9620772
GO:0001503IMP-ossification7550340
GO:0006024IDA-glycosaminoglycan biosynthetic process12907669
GO:0006024TAS-glycosaminoglycan biosynthetic process-
GO:0006486IEA-protein glycosylation-
GO:0007165TAS-signal transduction10878610
GO:0007369IEA-gastrulation-
GO:0007411IEA-axon guidance-
GO:0007492IEA-endoderm development-
GO:0007498IEA-mesoderm development-
GO:0015012IDA-heparan sulfate proteoglycan biosynthetic process9620772
GO:0015012ISS-heparan sulfate proteoglycan biosynthetic process-
GO:0015014IMP-heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process17761672
GO:0021772IEA-olfactory bulb development-
GO:0033692IDA-cellular polysaccharide biosynthetic process12907669
GO:0072498IEA-embryonic skeletal joint development-
Protein-Protein Interaction Top
Gene Symbol Interactant Interaction ID References Description
EXT1CNTF10843217353931 Affinity Capture-MS
EXT1CNTF10767017353931 Affinity Capture-MS
TRAP1EXT111543510545594 Reconstituted Complex; Two-hybrid
TRAP1EXT110843210545594 Reconstituted Complex; Two-hybrid
EXT1EXT110843210679296 Affinity Capture-Western
EXT2EXT110843210679296 Affinity Capture-Western
EXT2EXT110843310679296 Affinity Capture-Western
OSTF1EXT110843217353931 Affinity Capture-MS
OSTF1EXT111774717353931 Affinity Capture-MS
No data
No data
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:894663
  • Data Attributes: MGI curated and HomoloGene calculated
No data
No data

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Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018


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