ECE1 (endothelin converting enzyme 1)

2003-05-01  

Identity

HGNC
LOCATION
1p36.12
LOCUSID
ALIAS
ECE
FUSION GENES

Other Information

Locus ID:

NCBI: 1889
MIM: 600423
HGNC: 3146
Ensembl: ENSG00000117298

Variants:

dbSNP: 1889
ClinVar: 1889
TCGA: ENSG00000117298
COSMIC: ECE1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000117298ENST00000264205P42892
ENSG00000117298ENST00000264205A0A024RAB2
ENSG00000117298ENST00000357071P42892
ENSG00000117298ENST00000357071A0A024RAB0
ENSG00000117298ENST00000374893P42892
ENSG00000117298ENST00000374893A0A024RAF7
ENSG00000117298ENST00000415912P42892
ENSG00000117298ENST00000436918B4DKB2
ENSG00000117298ENST00000473505E9PJG1
ENSG00000117298ENST00000481130E9PHZ1
ENSG00000117298ENST00000527991E9PN99
ENSG00000117298ENST00000649812A0A3B3ISF9

Expression (GTEx)

0
50
100
150
200

Pathways

PathwaySourceExternal ID
Signal TransductionREACTOMER-HSA-162582
Signaling by GPCRREACTOMER-HSA-372790
GPCR ligand bindingREACTOMER-HSA-500792
Class A/1 (Rhodopsin-like receptors)REACTOMER-HSA-373076
Peptide ligand-binding receptorsREACTOMER-HSA-375276

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
124646142003Alzheimer's disease beta-amyloid peptide is increased in mice deficient in endothelin-converting enzyme.81
206630172010Expression and functional profiling of neprilysin, insulin-degrading enzyme, and endothelin-converting enzyme in prospectively studied elderly and Alzheimer's brain.50
180399312007Endothelin-converting enzyme-1 regulates endosomal sorting of calcitonin receptor-like receptor and beta-arrestins.38
232839722013Endothelin-converting enzymes degrade intracellular β-amyloid produced within the endosomal/lysosomal pathway and autophagosomes.36
175921162007Endothelin-converting enzyme 1 degrades neuropeptides in endosomes to control receptor recycling.34
166989382006PKCepsilon increases endothelin converting enzyme activity and reduces amyloid plaque pathology in transgenic mice.33
195314932009Endosomal endothelin-converting enzyme-1: a regulator of beta-arrestin-dependent ERK signaling.32
205389602010A candidate gene study of obstructive sleep apnea in European Americans and African Americans.30
186604892008Multiple genetic variants along candidate pathways influence plasma high-density lipoprotein cholesterol concentrations.26

Citation

Dessen P

ECE1 (endothelin converting enzyme 1)

Atlas Genet Cytogenet Oncol Haematol. 2003-05-01

Online version: http://atlasgeneticsoncology.org/gene/40395/ece1-(endothelin-converting-enzyme-1)