Ece1 endothelin converting enzyme 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Ece1provided by MGI
Official Full Name: endothelin converting enzyme 1provided by MGI
Primary source: MGI:MGI:1101357
See related: Ensembl:ENSMUSG00000057530 AllianceGenome:MGI:1101357
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: ECE-1; ECE-1a; ECE-1b; ECE-1d; ECE-1c1
Summary: Predicted to enable metalloendopeptidase activity; protein homodimerization activity; and zinc ion binding activity. Involved in axonogenesis; embryonic heart tube development; and gene expression. Acts upstream of or within pharyngeal system development. Predicted to be located in several cellular components, including cytoplasmic vesicle; external side of plasma membrane; and perinuclear region of cytoplasm. Predicted to be active in plasma membrane. Is expressed in several structures, including alimentary system; central nervous system; genitourinary system; heart; and retina. Used to study double outlet right ventricle. Human ortholog(s) of this gene implicated in Alzheimer's disease; congestive heart failure; coronary artery disease; essential hypertension; and hypertension. Orthologous to human ECE1 (endothelin converting enzyme 1). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Ubiquitous expression in lung adult (RPKM 40.8), adrenal adult (RPKM 30.1) and 27 other tissues See more
Orthologs: human all
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Genomic context

Location:: 4 D3; 4 70.02 cM

Exon count:: 21

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	4	NC_000070.7 (137589548..137692540)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	4	NC_000070.6 (137862237..137965229)

Chromosome 4 - NC_000070.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

A non-canonical role of endothelin converting enzyme 1 (ECE1) in promoting lung cancer development via directly targeting protein kinase B (AKT).
Title: A non-canonical role of endothelin converting enzyme 1 (ECE1) in promoting lung cancer development via directly targeting protein kinase B (AKT).
Endothelin converting enzyme-1 (ECE-1) deletion in association with Endothelin-1 downregulation ameliorates kidney fibrosis in mice.
Title: Endothelin converting enzyme-1 (ECE-1) deletion in association with Endothelin-1 downregulation ameliorates kidney fibrosis in mice.
Expression of ECE1 suppressed dopamine neuron loss and alleviated the corresponding motor deficits.
Title: A stress-enhanced model for discovery of disease-modifying gene: Ece1-suppresses the toxicity of α-synuclein A30P.
It is a amyloid beta degrading enzyme and is expressed by distinct populations of GABAergic interneurons in hippocampus and neocortex.
Title: Major amyloid-β-degrading enzymes, endothelin-converting enzyme-2 and neprilysin, are expressed by distinct populations of GABAergic interneurons in hippocampus and neocortex.
The cardiac expression of prepro-endothelin-1 mRNA, endothelin-converting enzyme-1 mRNA, and protein and endothelin receptors A and B mRNA was increased in 18-week-old obese C57BL/6 mice compared to animals with normal weight
Title: Increased gene expression of the cardiac endothelin system in obese mice.
identify the neural peptidase ECE-1 as a negative regulator of itch on sensory nerves by directly regulating ET-1-induced pruritus
Title: Neural peptidase endothelin-converting enzyme 1 regulates endothelin 1-induced pruritus.
differences in hemodynamic adn ece1 expression between HcB-8 and HcB-23 arteries
Title: Blood pressure, artery size, and artery compliance parallel bone size and strength in mice with differing ece1 expression.
Endothelin-converting enzyme-1 gene ablation attenuates pulmonary fibrosis via CGRP-cAMP/EPAC1 pathway.
Title: Endothelin-converting enzyme-1 gene ablation attenuates pulmonary fibrosis via CGRP-cAMP/EPAC1 pathway.
involved in the physiological degradation of atrial natriuretic peptide
Title: Physiological relevance of hydrolysis of atrial natriuretic peptide by endothelin-converting enzyme-1.
Endosomal endothelin-converting enzyme-1 is a regulator of beta-arrestin-dependent ERK signaling
Title: Endosomal endothelin-converting enzyme-1: a regulator of beta-arrestin-dependent ERK signaling.

Submit: New GeneRIF Correction See all GeneRIFs (20)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (1)
Targeted (4) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D4Mit54 (e-PCR), detects polymorphism
- UniSTS:116525

D4Dcr30 (e-PCR), detects polymorphism
- UniSTS:507705

NoName (e-PCR)
- UniSTS:235071

D4Mit67 (e-PCR), detects polymorphism
- UniSTS:130184

D4Mit158 (e-PCR), detects polymorphism
- UniSTS:129934

AW322500 (e-PCR)
- UniSTS:179096

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables endopeptidase activity	ISO Inferred from Sequence Orthology more info
enables identical protein binding	ISO Inferred from Sequence Orthology more info
enables metalloendopeptidase activity	IBA Inferred from Biological aspect of Ancestor more info
enables metalloendopeptidase activity	IEA Inferred from Electronic Annotation more info
enables peptidase activity	ISS Inferred from Sequence or Structural Similarity more info	PubMed
enables protein homodimerization activity	IEA Inferred from Electronic Annotation more info
enables protein homodimerization activity	ISO Inferred from Sequence Orthology more info
enables zinc ion binding	IEA Inferred from Electronic Annotation more info
enables zinc ion binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in axon guidance	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in axonogenesis involved in innervation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in blood vessel diameter maintenance	ISO Inferred from Sequence Orthology more info
involved_in bradykinin catabolic process	IEA Inferred from Electronic Annotation more info
involved_in bradykinin catabolic process	ISO Inferred from Sequence Orthology more info
involved_in calcitonin catabolic process	IEA Inferred from Electronic Annotation more info
involved_in calcitonin catabolic process	ISO Inferred from Sequence Orthology more info
involved_in ear development	IEA Inferred from Electronic Annotation more info
involved_in ear development	ISO Inferred from Sequence Orthology more info
involved_in embryonic digit morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in embryonic digit morphogenesis	ISO Inferred from Sequence Orthology more info
involved_in embryonic heart tube development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in endothelin maturation	IEA Inferred from Electronic Annotation more info
involved_in endothelin maturation	ISO Inferred from Sequence Orthology more info
involved_in gene expression	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in heart development	ISO Inferred from Sequence Orthology more info
involved_in hormone catabolic process	ISO Inferred from Sequence Orthology more info
involved_in neuron projection development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in peptide hormone processing	IBA Inferred from Biological aspect of Ancestor more info
involved_in peptide hormone processing	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within peptide hormone processing	ISS Inferred from Sequence or Structural Similarity more info	PubMed
acts_upstream_of_or_within pharyngeal system development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of G protein-coupled receptor signaling pathway	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of cAMP-mediated signaling	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of cardiac muscle hypertrophy	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of receptor recycling	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of receptor recycling	ISO Inferred from Sequence Orthology more info
involved_in protein processing	ISO Inferred from Sequence Orthology more info
involved_in regulation of ERK1 and ERK2 cascade	ISO Inferred from Sequence Orthology more info
involved_in regulation of blood pressure	ISO Inferred from Sequence Orthology more info
involved_in response to hypoxia	ISO Inferred from Sequence Orthology more info
involved_in semaphorin-plexin signaling pathway involved in axon guidance	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in substance P catabolic process	IEA Inferred from Electronic Annotation more info
involved_in substance P catabolic process	ISO Inferred from Sequence Orthology more info
involved_in sympathetic neuron axon guidance	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in Golgi apparatus	ISS Inferred from Sequence or Structural Similarity more info	PubMed
located_in Weibel-Palade body	IEA Inferred from Electronic Annotation more info
located_in Weibel-Palade body	ISO Inferred from Sequence Orthology more info
located_in cell surface	ISS Inferred from Sequence or Structural Similarity more info	PubMed
located_in early endosome	ISO Inferred from Sequence Orthology more info
located_in endosome	IEA Inferred from Electronic Annotation more info
located_in endosome	ISO Inferred from Sequence Orthology more info
located_in external side of plasma membrane	IEA Inferred from Electronic Annotation more info
located_in external side of plasma membrane	ISO Inferred from Sequence Orthology more info
located_in membrane	ISO Inferred from Sequence Orthology more info
located_in perinuclear region of cytoplasm	IEA Inferred from Electronic Annotation more info
located_in perinuclear region of cytoplasm	ISO Inferred from Sequence Orthology more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	ISO Inferred from Sequence Orthology more info
located_in secretory granule	ISO Inferred from Sequence Orthology more info
located_in vesicle	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: endothelin-converting enzyme 1

Names: endothelin-converting enzyme-1a; endothelin-converting enzyme-1b; endothelin-converting enzyme-1c1; endothelin-converting enzyme-1d

NP_001356106.1

EC 3.4.24.71

NP_001356107.1

EC 3.4.24.71

NP_001356108.1

EC 3.4.24.71

NP_955011.1

EC 3.4.24.71

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001369177.1 → NP_001356106.1 endothelin-converting enzyme 1 isoform a

Status: VALIDATED

Description

Transcript Variant: This variant (1) encodes the longest isoform (a).

Source sequence(s)

AL807764

UniProtKB/Swiss-Prot

B1AXF9, Q4PZ99, Q4PZA1, Q4PZA2, Q6P9Q9

Conserved Domains (1) summary

cd08662
Location:118 → 767

M13; Peptidase family M13 includes neprilysin and endothelin-converting enzyme I
NM_001369178.1 → NP_001356107.1 endothelin-converting enzyme 1 isoform b

Status: VALIDATED

Source sequence(s)

AK163790, AL807764

Conserved Domains (1) summary

cd08662
Location:107 → 756

M13; Peptidase family M13 includes neprilysin and endothelin-converting enzyme I
NM_001369179.1 → NP_001356108.1 endothelin-converting enzyme 1 isoform c

Status: VALIDATED

Description

Transcript Variant: This variant (4), as well as variant 3, encodes isoform c.

Source sequence(s)

AL807764

Consensus CDS

CCDS18822.1

UniProtKB/TrEMBL

A0A183ZRM3

Conserved Domains (1) summary

cd08662
Location:102 → 751

M13; Peptidase family M13 includes neprilysin and endothelin-converting enzyme I
NM_199307.2 → NP_955011.1 endothelin-converting enzyme 1 isoform c

See identical proteins and their annotated locations for NP_955011.1

Status: VALIDATED

Description

Transcript Variant: This variant (3), as well as variant 4, encodes isoform c.

Source sequence(s)

AK134088, BC060648, BG083532, BQ749244

Consensus CDS

CCDS18822.1

UniProtKB/TrEMBL

A0A183ZRM3

Related

ENSMUSP00000099576.4, ENSMUST00000102518.10

Conserved Domains (1) summary

cd08662
Location:102 → 751

M13; Peptidase family M13 includes neprilysin and endothelin-converting enzyme I