InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Gene: ECE1

Summary

InnateDB Gene

IDBG-93094.6

Last Modified

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

Gene Symbol

ECE1

Gene Name

endothelin converting enzyme 1

Synonyms

ECE

Species

Homo sapiens

Ensembl Gene

ENSG00000117298

Encoded Proteins

IDBP-93096

endothelin converting enzyme 1

IDBP-93098

endothelin converting enzyme 1

IDBP-93102

endothelin converting enzyme 1

IDBP-374071

endothelin converting enzyme 1

IDBP-374073

endothelin converting enzyme 1

IDBP-596438

endothelin converting enzyme 1

IDBP-584367

endothelin converting enzyme 1

IDBP-603666

endothelin converting enzyme 1

Protein Structure

Useful resources

Stemformatics EHFPI ImmGen

Entrez Gene

Summary

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]

Gene Information

Type

Protein coding

Genomic Location

Chromosome 1:21217247-21345504

Strand

Reverse strand

Band

p36.12

Transcripts

ENST00000357071	ENSP00000349581
ENST00000264205	ENSP00000264205
ENST00000374893	ENSP00000364028
ENST00000415912	ENSP00000405088
ENST00000436918	ENSP00000388439
ENST00000470394
ENST00000481130	ENSP00000436633
ENST00000473505	ENSP00000431856
ENST00000463334
ENST00000531334
ENST00000526194
ENST00000528294
ENST00000527991	ENSP00000432860

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
GO:0060037	pharyngeal system 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

Orthologs

Species

Mus musculus

Bos taurus

Gene ID

Gene Order

ENSMUSG00000057530

View Gene Order

ENSBTAG00000002977

Not yet available

Cross-References

SwissProt

TrEMBL

UniProt Splice Variant

Entrez Gene

UniGene

Hs.195080

RefSeq

NM_001113347 NM_001113348 NM_001113349 NM_001397 XM_006710398

HUGO

OMIM

CCDS

CCDS215 CCDS44081 CCDS44082 CCDS44083

HPRD

02690

IMGT

EMBL

GenPept

RNA Seq Atlas