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

Gene ID: 230857, updated on 8-Dec-2022

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 integral component of membrane. Predicted to be active in plasma membrane. Is expressed in several structures, including alimentary system; central nervous system; male reproductive gland or organ; respiratory system; and sensory organ. 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, Apr 2022]
Expression
Ubiquitous expression in lung adult (RPKM 40.8), adrenal adult (RPKM 30.1) and 27 other tissues See more
Orthologs
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Genomic context

See Ece1 in Genome Data Viewer
Location:
4; 4 D3
Exon count:
21
Annotation release Status Assembly Chr Location
109 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_000070.7Genomic Context describing neighboring genes Neighboring gene alkaline phosphatase, liver/bone/kidney Neighboring gene predicted gene, 32079 Neighboring gene predicted gene 13012 Neighboring gene predicted gene, 52683 Neighboring gene eukaryotic translation initiation factor 4 gamma, 3 Neighboring gene RIKEN cDNA 1700095J12 gene Neighboring gene microRNA 6399

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variation

Alleles

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables endopeptidase activity ISO
Inferred from Sequence Orthology
more info
 
enables hydrolase activity IEA
Inferred from Electronic Annotation
more info
 
enables identical protein binding ISO
Inferred from Sequence Orthology
more info
 
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
 
enables metalloendopeptidase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables metallopeptidase 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 ISO
Inferred from Sequence Orthology
more info
 
enables zinc ion binding ISO
Inferred from Sequence Orthology
more info
 
Process Evidence Code Pubs
involved_in apoptotic process ISO
Inferred from Sequence Orthology
more info
 
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 ISO
Inferred from Sequence Orthology
more info
 
involved_in calcitonin catabolic process ISO
Inferred from Sequence Orthology
more info
 
involved_in ear development ISO
Inferred from Sequence Orthology
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 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
PubMed 
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 ISO
Inferred from Sequence Orthology
more info
 
involved_in protein processing ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within proteolysis IEA
Inferred from Electronic Annotation
more info
 
involved_in proteolysis IEA
Inferred from Electronic Annotation
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 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 ISO
Inferred from Sequence Orthology
more info
 
located_in cell surface ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
located_in cytoplasmic vesicle ISO
Inferred from Sequence Orthology
more info
 
located_in early endosome ISO
Inferred from Sequence Orthology
more info
 
located_in endosome ISO
Inferred from Sequence Orthology
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 ISO
Inferred from Sequence Orthology
more info
 
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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

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
NP_001356107.1
NP_001356108.1
NP_955011.1

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)

  1. NM_001369177.1NP_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
    Q6P9Q9
    Conserved Domains (1) summary
    cd08662
    Location:118767
    M13; Peptidase family M13 includes neprilysin and endothelin-converting enzyme I
  2. NM_001369178.1NP_001356107.1  endothelin-converting enzyme 1 isoform b

    Status: VALIDATED

    Source sequence(s)
    AK163790, AL807764
    Conserved Domains (1) summary
    cd08662
    Location:107756
    M13; Peptidase family M13 includes neprilysin and endothelin-converting enzyme I
  3. NM_001369179.1NP_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:102751
    M13; Peptidase family M13 includes neprilysin and endothelin-converting enzyme I
  4. NM_199307.2NP_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/Swiss-Prot
    Q4PZA2
    UniProtKB/TrEMBL
    A0A183ZRM3
    Related
    ENSMUSP00000099576.4, ENSMUST00000102518.10
    Conserved Domains (1) summary
    cd08662
    Location:102751
    M13; Peptidase family M13 includes neprilysin and endothelin-converting enzyme I

RefSeqs of Annotated Genomes: Mus musculus Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000070.7 Reference GRCm39 C57BL/6J

    Range
    137589548..137692540
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)