EXT1 [The Human Chemical-Genetic Interaction Map Project]

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======= EXT1 =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: EXT1
  * **<color #00a2e8>Official Name</color>**: exostosin glycosyltransferase 1
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=2131|2131]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/Q16394|Q16394]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=EXT1&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20EXT1|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/608177|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**:  This gene encodes an endoplasmic reticulum-resident type II transmembrane glycosyltransferase involved in the chain elongation step of heparan sulfate biosynthesis. Mutations in this gene cause the type I form of multiple exostoses. [provided by RefSeq, Jul 2008]. 
  * **<color #00a2e8>UniProt Summary</color>**:  Glycosyltransferase required for the biosynthesis of heparan-sulfate. The EXT1/EXT2 complex possesses substantially higher glycosyltransferase activity than EXT1 or EXT2 alone. Appears to be a tumor suppressor. Required for the exosomal release of SDCBP, CD63 and syndecan (PubMed:22660413). {ECO:0000269|PubMed:11518722, ECO:0000269|PubMed:22660413}.

<button type='primary' size='sm' modal='Pfam_Domains'>Pfam Domains</button>
<button type='primary' size='sm' modal='GO_terms'>GO Terms</button>


<modal id='Pfam_Domains' size='lg' title='Pfam Domains'>
|Exostosin|
|Glyco transf 64|
</modal>

<modal id='GO_terms' size='lg' title='GO Terms'>
|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|
|glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|
|heparan sulfate N-acetylglucosaminyltransferase activity|
|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|
|embryonic skeletal joint development|
|transferase activity, transferring glycosyl groups|
|acetylglucosaminyltransferase activity|
|glucuronosyltransferase activity|
|heparan sulfate proteoglycan biosynthetic process|
|olfactory bulb development|
|olfactory lobe development|
|heparan sulfate proteoglycan metabolic process|
|cellular polysaccharide biosynthetic process|
|polysaccharide biosynthetic process|
|cellular carbohydrate biosynthetic process|
|proteoglycan biosynthetic process|
|endoderm development|
|cellular polysaccharide metabolic process|
|polysaccharide metabolic process|
|proteoglycan metabolic process|
|glycosaminoglycan biosynthetic process|
|integral component of endoplasmic reticulum membrane|
|aminoglycan biosynthetic process|
|mesoderm development|
|carbohydrate biosynthetic process|
|embryonic skeletal system development|
|glycosaminoglycan metabolic process|
|gastrulation|
|aminoglycan metabolic process|
|cellular carbohydrate metabolic process|
|macromolecule glycosylation|
|telencephalon development|
|protein glycosylation|
|axon guidance|
|neuron projection guidance|
|ossification|
|glycosylation|
|glycoprotein biosynthetic process|
|axonogenesis|
|glycoprotein metabolic process|
|forebrain development|
|axon development|
|cell morphogenesis involved in neuron differentiation|
|carbohydrate metabolic process|
|neuron projection morphogenesis|
|plasma membrane bounded cell projection morphogenesis|
|protein heterodimerization activity|
|cell projection morphogenesis|
|skeletal system development|
|cell part morphogenesis|
|chemotaxis|
|taxis|
|cell morphogenesis involved in differentiation|
|embryonic morphogenesis|
|carbohydrate derivative biosynthetic process|
|Golgi membrane|
|chordate embryonic development|
|embryo development ending in birth or egg hatching|
|neuron projection development|
|cell morphogenesis|
|brain development|
|head development|
|neuron development|
|cellular component morphogenesis|
|protein homodimerization activity|
|endoplasmic reticulum membrane|
|embryo development|
|central nervous system development|
|Golgi apparatus|
|endoplasmic reticulum|
|neuron differentiation|
|carbohydrate derivative metabolic process|
|plasma membrane bounded cell projection organization|
|cell projection organization|
|locomotion|
|organonitrogen compound biosynthetic process|
|generation of neurons|
|movement of cell or subcellular component|
|neurogenesis|
|cell development|
|cellular macromolecule biosynthetic process|
|tissue development|
|macromolecule biosynthetic process|
</modal>
\\

 === CRISPR Data ===
<button type='primary' size='small' modal='Compound_Hit'>Compound Hit</button>
<button type='default' size='small' modal='Most_Correlated_Genes'>Most Correlated Genes in Chemogenomics</button>
<button type='primary' size='small' modal='Essential_Avana'>Tissues where Essential in the Avana Dataset (DepMap 20Q1)</button>

<modal id='Compound_Hit' size='lg' title='Compound Hit'>
^Screen^Score^
|[[:results:exp280|Daidzin 10μM R06 exp280]]|-2.25|
|[[:results:exp277|Curcumin 6.5μM R06 exp277]]|-1.87|
|[[:results:exp410|THZ531 0.11 to 0.125μM on day4 R07 exp410]]|-1.81|
|[[:results:exp399|Salubrinal 20μM R07 exp399]]|-1.7|
|[[:results:exp409|THZ531 0.11μM R07 exp409]]|-1.7|
|[[:results:exp126|GSK461364A 0.1μM R03 exp126]]|1.92|
</modal>

<modal id='Most_Correlated_Genes' size='lg' title='Most Correlated Genes in Chemogenomics'>
No correlation found to any other genes in chemogenomics.
</modal>

<modal id='Essential_Avana' size='lg' title='Tissues where Essential in the Avana Dataset (DepMap 20Q1)'>
Global Fraction of Cell Lines Where Essential: 8/739
^Tissue^Fraction Of Cell Lines Where Essential^
|1290807.0|0/1|
|909776.0|0/1|
|bile duct|1/28|
|blood|0/28|
|bone|0/26|
|breast|0/33|
|central nervous system|1/56|
|cervix|0/4|
|colorectal|0/17|
|esophagus|0/13|
|fibroblast|0/1|
|gastric|1/16|
|kidney|0/21|
|liver|0/20|
|lung|0/75|
|lymphocyte|0/16|
|ovary|0/26|
|pancreas|0/24|
|peripheral nervous system|2/16|
|plasma cell|0/15|
|prostate|0/1|
|skin|0/24|
|soft tissue|0/9|
|thyroid|0/2|
|upper aerodigestive|1/22|
|urinary tract|1/29|
|uterus|0/5|
</modal>

== Essentiality in NALM6  ==
    * **<color #00a2e8>Essentiality Rank</color>**: 15184
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: 0.65 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='EXT1 Expression in NALM6 Cells: 0.65'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>