InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: ECE1

Summary

InnateDB Protein

IDBP-93096.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

ECE1

Protein Name

endothelin converting enzyme 1

Synonyms

ECE;

Species

Homo sapiens

Ensembl Protein

ENSP00000349581

InnateDB Gene

IDBG-93094 (ECE1)

Protein Structure

UniProt Annotation

Function

Converts big endothelin-1 to endothelin-1. {ECO:0000269PubMed:9396733}.

Subcellular Localization

Cell membrane; Single-pass type II membrane protein.

Disease Associations

Hirschsprung disease cardiac defects and autonomic dysfunction (HSCRCDAD) [MIM:613870]: A disorder characterized by skip-lesions Hirschsprung disease, craniofacial abnormalities and other dysmorphic features, cardiac defects including ductus arteriosus, small subaortic ventricular septal defect, small atrial septal defect, and autonomic dysfunction. {ECO:0000269PubMed:9915973}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

All isoforms are expressed in umbilical vein endothelial cells, polynuclear neutrophils, fibroblasts, atrium cardiomyocytes and ventricles. Isoforms A, B and C are also expressed in placenta, lung, heart, adrenal gland and phaeochromocytoma; isoforms A and C in liver, testis and small intestine; isoform B, C and D in endothelial cells and umbilical vein smooth muscle cells; isoforms C and D in saphenous vein cells, and isoform C in kidney. {ECO:0000269PubMed:10491078, ECO:0000269PubMed:9396733}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 17 experimentally validated interaction(s) in this database.

Experimentally validated
Total	17 [view]
Protein-Protein	17 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0004175	endopeptidase activity
GO:0004222	metalloendopeptidase activity
GO:0017046	peptide hormone binding
GO:0042803	protein homodimerization activity
GO:0046872	metal ion binding

Biological Process

GO:0001921	positive regulation of receptor recycling
GO:0003100	regulation of systemic arterial blood pressure by endothelin
GO:0006508	proteolysis
GO:0007507	heart development
GO:0010814	substance P catabolic process
GO:0010815	bradykinin catabolic process
GO:0010816	calcitonin catabolic process
GO:0016485	protein processing
GO:0016486	peptide hormone processing
GO:0019229	regulation of vasoconstriction
GO:0034959	endothelin maturation
GO:0042447	hormone catabolic process
GO:0042733	embryonic digit morphogenesis
GO:0043583	ear development

Cellular Component

GO:0005765	lysosomal membrane
GO:0005768	endosome
GO:0005769	early endosome
GO:0005886	plasma membrane
GO:0009897	external side of plasma membrane
GO:0016020	membrane
GO:0016021	integral component of membrane
GO:0031302	intrinsic to endosome membrane
GO:0031982	vesicle
GO:0033093	Weibel-Palade body
GO:0048471	perinuclear region of cytoplasm
GO:0070062	extracellular vesicular exosome