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Ece1 Gene Detail
Summary
  • Symbol
    Ece1
  • Name
    endothelin converting enzyme 1
  • Feature Type
    protein coding gene
  • IDs
    MGI:1101357
    NCBI Gene: 230857
  • Gene Overview
    MyGene.info: ECE1
Location & Maps
more
  • Sequence Map
    Chr4:137862237-137965229 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      102993 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 4, 70.02 cM
  • Mapping Data
    1 experiment
Homology
more
  • Human Ortholog
    ECE1, endothelin converting enzyme 1
  • Vertebrate Orthologs
    9
  • Human Ortholog
    ECE1, endothelin converting enzyme 1
    Orthology source: HGNC, HomoloGene
  • Synonyms
    ECE
  • Links
    NCBI Gene ID: 1889
    neXtProt AC: NX_P42892

  • Chr Location
    1p36.1; chr1:21217247-21345541 (-)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with Ece1 mouse models; 2 with human ECE1 associations

Human Disease Mouse Models
       Conotruncal Heart Malformations; CTHM   OMIM: 217095 View 2 models
       Hirschsprung Disease, Cardiac Defects, and Autonomic Dysfunction   OMIM: 613870
Hypertension, Essential   OMIM: 145500
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    47 phenotypes from 1 allele in 4 genetic backgrounds
    13 phenotypes from multigenic genotypes
    2 images
    21 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    108
  • Chemically induced (other)
    2
  • Gene trapped
    102
  • Targeted
    4
  • Genomic Mutations
    3 involving Ece1
  • Incidental Mutations
Homozygotes for targeted null mutations show cardiac and craniofacial abnormalities and embryonic mortality.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000009809 VEGA Gene Model | MGI Sequence Detail 102993 C57BL/6J ±  kb
transcript OTTMUST00000022738 VEGA | MGI Sequence Detail 4816 Not Applicable  
polypeptide OTTMUSP00000010377 VEGA | MGI Sequence Detail 753 Not Applicable  
For the selected sequence
Polymorphisms
less
  • SNPs within 2kb
    1621 from dbSNP Build 142
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 20
    Genomic 1
    cDNA 19

    Microarray probesets 5
Other
Accession IDs
less
MGI:2140570
References
more
  • Summaries
    All 53
    Developmental Gene Expression 12
    Diseases 1
    Gene Ontology 6
    Phenotypes 21
  • Earliest
    J:40232 Xu D, et al., ECE-1: a membrane-bound metalloprotease that catalyzes the proteolytic activation of big endothelin-1. Cell. 1994 Aug 12;78(3):473-85
  • Latest
    J:213829 Bard-Chapeau EA, et al., Mice carrying a hypomorphic Evi1 allele are embryonic viable but exhibit severe congenital heart defects. PLoS One. 2014;9(2):e89397

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
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last database update
07/19/2016
MGI 6.04
The Jackson Laboratory