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

Gene ID: 230857, updated on 4-Jan-2025

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, Jan 2025]
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 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_000070.7Genomic Context describing neighboring genes Neighboring gene STARR-seq mESC enhancer starr_11793 Neighboring gene STARR-positive B cell enhancer ABC_E4691 Neighboring gene alkaline phosphatase, liver/bone/kidney Neighboring gene STARR-seq mESC enhancer starr_11795 Neighboring gene predicted gene, 32079 Neighboring gene CapStarr-seq enhancer MGSCv37_chr4:137411929-137412112 Neighboring gene STARR-positive B cell enhancer ABC_E6240 Neighboring gene STARR-seq mESC enhancer starr_11797 Neighboring gene predicted gene 13012 Neighboring gene predicted gene, 52683 Neighboring gene STARR-positive B cell enhancer mm9_chr4:137508798-137509099 Neighboring gene CapStarr-seq enhancer MGSCv37_chr4:137524336-137524519 Neighboring gene STARR-positive B cell enhancer mm9_chr4:137549212-137549513 Neighboring gene STARR-seq mESC enhancer starr_11798 Neighboring gene eukaryotic translation initiation factor 4 gamma, 3 Neighboring gene STARR-positive B cell enhancer ABC_E6242 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)
  • Endonuclease-mediated (1) 
  • Targeted (4)  1 citation

Pathways from PubChem

Interactions

General gene information

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables endopeptidase activity  
enables identical protein binding  
enables metalloendopeptidase activity  
enables metalloendopeptidase activity  
enables peptidase activity PubMed 
enables protein homodimerization activity  
enables protein homodimerization activity  
enables zinc ion binding  
enables zinc ion binding  
Items 1 - 25 of 35
Process Evidence Code Pubs
involved_in axon guidance PubMed 
involved_in axonogenesis involved in innervation PubMed 
involved_in blood vessel diameter maintenance  
involved_in bradykinin catabolic process  
involved_in bradykinin catabolic process  
involved_in calcitonin catabolic process  
involved_in calcitonin catabolic process  
involved_in ear development  
involved_in ear development  
involved_in embryonic digit morphogenesis  
involved_in embryonic digit morphogenesis  
involved_in embryonic heart tube development PubMed 
involved_in endothelin maturation  
involved_in endothelin maturation  
involved_in gene expression PubMed 
involved_in heart development  
involved_in hormone catabolic process  
involved_in neuron projection development PubMed 
involved_in peptide hormone processing  
involved_in peptide hormone processing  
acts_upstream_of_or_within peptide hormone processing PubMed 
acts_upstream_of_or_within pharyngeal system development PubMed 
involved_in positive regulation of G protein-coupled receptor signaling pathway  
involved_in positive regulation of cAMP-mediated signaling  
involved_in positive regulation of cardiac muscle hypertrophy  
involved_in positive regulation of receptor recycling  
involved_in positive regulation of receptor recycling  
involved_in protein processing  
involved_in regulation of ERK1 and ERK2 cascade  
involved_in regulation of blood pressure  
involved_in response to hypoxia  
involved_in semaphorin-plexin signaling pathway involved in axon guidance PubMed 
involved_in substance P catabolic process  
involved_in substance P catabolic process  
involved_in sympathetic neuron axon guidance PubMed 
Items 1 - 25 of 35
Component Evidence Code Pubs
located_in Golgi apparatus PubMed 
located_in Weibel-Palade body  
located_in Weibel-Palade body  
located_in cell surface PubMed 
located_in early endosome  
located_in endosome  
located_in endosome  
located_in external side of plasma membrane  
located_in external side of plasma membrane  
located_in membrane  
located_in perinuclear region of cytoplasm  
located_in perinuclear region of cytoplasm  
is_active_in plasma membrane  
located_in plasma membrane  
located_in secretory granule  
located_in vesicle  

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
    B1AXF9, Q4PZ99, Q4PZA1, Q4PZA2, 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/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: GCF_000001635.27-RS_2024_02

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)
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