ECE1 [The Human Chemical-Genetic Interaction Map Project]

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======= ECE1 =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: ECE1
  * **<color #00a2e8>Official Name</color>**: endothelin converting enzyme 1
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=1889|1889]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/P42892|P42892]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=ECE1&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20ECE1|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/600423|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**:  The protein encoded by this gene is involved in proteolytic processing of endothelin precursors to biologically active peptides. Mutations in this gene are associated with Hirschsprung disease, cardiac defects and autonomic dysfunction. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene.[provided by RefSeq, Sep 2009]. 
  * **<color #00a2e8>UniProt Summary</color>**: N/A

<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'>
|Peptidase M13|
|Peptidase M13 N|
</modal>

<modal id='GO_terms' size='lg' title='GO Terms'>
|substance P catabolic process|
|endothelin maturation|
|intrinsic component of endosome membrane|
|calcitonin catabolic process|
|neuropeptide catabolic process|
|bradykinin catabolic process|
|Weibel-Palade body|
|regulation of systemic arterial blood pressure by endothelin|
|positive regulation of receptor recycling|
|hormone catabolic process|
|regulation of receptor recycling|
|pharyngeal system development|
|peptide catabolic process|
|peptide hormone processing|
|regulation of systemic arterial blood pressure by hormone|
|peptide hormone binding|
|regulation of systemic arterial blood pressure mediated by a chemical signal|
|endocrine process|
|regulation of vasoconstriction|
|embryonic digit morphogenesis|
|endopeptidase activity|
|regulation of systemic arterial blood pressure|
|metalloendopeptidase activity|
|cellular hormone metabolic process|
|embryonic appendage morphogenesis|
|embryonic limb morphogenesis|
|regulation of blood vessel diameter|
|regulation of tube diameter|
|regulation of tube size|
|vesicle|
|drug catabolic process|
|appendage morphogenesis|
|limb morphogenesis|
|protein processing|
|vascular process in circulatory system|
|limb development|
|appendage development|
|regulation of blood pressure|
|hormone metabolic process|
|ear development|
|protein maturation|
|endosome|
|regulation of blood circulation|
|lysosomal membrane|
|blood circulation|
|external side of plasma membrane|
|circulatory system process|
|drug metabolic process|
|regulation of anatomical structure size|
|heart development|
|peptide metabolic process|
|regulation of hormone levels|
|sensory organ development|
|embryonic morphogenesis|
|regulation of system process|
|chordate embryonic development|
|embryo development ending in birth or egg hatching|
|perinuclear region of cytoplasm|
|cellular amide metabolic process|
|zinc ion binding|
|circulatory system development|
|protein homodimerization activity|
|embryo development|
|organonitrogen compound catabolic process|
|proteolysis|
|organic substance catabolic process|
|cellular catabolic process|
|positive regulation of signaling|
|system process|
|membrane|
|gene expression|
</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:exp58|UM131593 0.1μM R01 exp58]]|-1.9|
|[[:results:exp50|Nicotinamide 2000μM R01 exp50]]|-1.81|
|[[:results:exp41|BI-2536 0.001μM R01 exp41]]|-1.79|
</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: 0/739
^Tissue^Fraction Of Cell Lines Where Essential^
|1290807.0|0/1|
|909776.0|0/1|
|bile duct|0/28|
|blood|0/28|
|bone|0/26|
|breast|0/33|
|central nervous system|0/56|
|cervix|0/4|
|colorectal|0/17|
|esophagus|0/13|
|fibroblast|0/1|
|gastric|0/16|
|kidney|0/21|
|liver|0/20|
|lung|0/75|
|lymphocyte|0/16|
|ovary|0/26|
|pancreas|0/24|
|peripheral nervous system|0/16|
|plasma cell|0/15|
|prostate|0/1|
|skin|0/24|
|soft tissue|0/9|
|thyroid|0/2|
|upper aerodigestive|0/22|
|urinary tract|0/29|
|uterus|0/5|
</modal>

== Essentiality in NALM6  ==
    * **<color #00a2e8>Essentiality Rank</color>**: 6098
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: 5.64 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='ECE1 Expression in NALM6 Cells: 5.64'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>