About: EXT1 wt Allele     Goto   Sponge   NotDistinct   Permalink

An Entity of Type : owl:Class, within Data Space : linked.opendata.cz associated with source document(s)

AttributesValues
rdf:type
rdfs:label
  • EXT1 wt Allele
equivalentClass
OMIM_Number
  • 608177
Homologous_Gene
  • EXT Family
GenBank_Accession_Number
  • S79639
Semantic_Type
  • Gene or Genome
Preferred_Name
  • EXT1 wt Allele
UMLS_CUI
  • C1707871
GO_Annotation
  • glycosaminoglycan biosynthesisGO:0006024TAS29-SEP-2003CGAP
  • endoplasmic reticulumGO:0005783TAS29-SEP-2003CGAP
  • signal transductionGO:0007165TAS29-SEP-2003CGAP
  • integral to membraneGO:0016021TAS29-SEP-2003CGAP
  • Golgi apparatusGO:0005794TAS29-SEP-2003CGAP
  • skeletal developmentGO:0001501TAS29-SEP-2003CGAP
  • endoplasmic reticulum membraneGO:0005789TAS29-SEP-2003CGAP
EntrezGene_ID
  • 2131
Legacy_Concept_Name
  • EXT1_wt_Allele
HGNC_ID
  • HGNC:3512
FULL_SYN
  • EXT1 wt AllelePTNCI
  • EXTSYNCI
  • Exostoses (Multiple) 1 wt AlleleSYNCI
Gene_Encodes_Product
  • Exostosin-1
DEFINITION
  • Human EXT1 wild-type allele is located within 8q24.11-q24.13 and is approximately 312 kb in length. This allele, which encodes exostosin-1 protein, is involved in the chain elongation step of heparin/heparin sulfate biosynthesis. Certain allelic variants of the EXT1 gene cause multiple exostoses type I.NCI
DesignNote
  • The EXT1 gene is a putative tumor suppressor gene.
code
  • C50957
Faceted Search & Find service v1.16.118 as of Jun 21 2024


Alternative Linked Data Documents: ODE     Content Formats:   [cxml] [csv]     RDF   [text] [turtle] [ld+json] [rdf+json] [rdf+xml]     ODATA   [atom+xml] [odata+json]     Microdata   [microdata+json] [html]    About   
This material is Open Knowledge   W3C Semantic Web Technology [RDF Data] Valid XHTML + RDFa
OpenLink Virtuoso version 07.20.3240 as of Jun 21 2024, on Linux (x86_64-pc-linux-gnu), Single-Server Edition (126 GB total memory, 19 GB memory in use)
Data on this page belongs to its respective rights holders.
Virtuoso Faceted Browser Copyright © 2009-2025 OpenLink Software