Gene table of ECE1 : endothelin converting enzyme 1

Gene-disease associations table

Disease IDDisease nameSource of annotation with ECE1OMIM linkNumber of associated genesgenes
613870HIRSCHSPRUNG DISEASE, CARDIAC DEFECTS, AND AUTONOMIC DYSFUNCTIONOMIM, HUMSAVAR link to OMIM 1ECE1
145500HYPERTENSION, ESSENTIALOMIM link to OMIM 13RGS5, PTGIS, ADD1, NOS3, UMOD, AGT, ECE1, CYP3A5, ATP1B1, NOS2, GNB3, AGTR1, SELE

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Annotation of the gene ECE1

Associated genes in ENSEMBL
Associated proteins - SwissProt Accession ID
Associated PDB IDs
Cytogenetic Band
Tandem repeats annotation
Transcription regulation as annotated in TRRUST

It is regulated by the following TF:

Associated KEGG pathways
Associated REACTOME pathways
Associated GO terms for Molecular function
GO termGO IDGO IC
peptide hormone bindingGO:00170466.13
hydrolase activityGO:00167871.9
endopeptidase activityGO:00041753.63
metalloendopeptidase activityGO:00042225.02
cation bindingGO:00431691.4
amide bindingGO:00332184.14
ion bindingGO:00431671.36
catalytic activityGO:00038241.05
metallopeptidase activityGO:00082374.5
peptidase activity, acting on L-amino acid peptidesGO:00700113.26
protein dimerization activityGO:00469832.72
bindingGO:00054880.18
protein bindingGO:00055150.46
peptide bindingGO:00422774.22
peptidase activityGO:00082333.23
metal ion bindingGO:00468721.41
hormone bindingGO:00425625.53
identical protein bindingGO:00428022.63
protein homodimerization activityGO:00428033.16