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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
  • Alliance
    gene page
  • Transcription Start Sites
    20 TSS
Location &
Maps
more
  • Sequence Map
    Chr4:137589548-137692540 bp, + strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 4, 70.02 cM
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • SNPs within 2kb
    3662 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1101357
 protein coding gene Chr4:137589548-137692540 (+)
129S1/SvImJ MGP_129S1SvImJ_G0028988
 protein coding gene Chr4:140540602-140663560 (+)
A/J MGP_AJ_G0028947
 protein coding gene Chr4:134570039-134671883 (+)
AKR/J MGP_AKRJ_G0028899
 protein coding gene Chr4:138416068-138519865 (+)
BALB/cJ MGP_BALBcJ_G0028971
 protein coding gene Chr4:135239319-135344741 (+)
C3H/HeJ MGP_C3HHeJ_G0028685
 protein coding gene Chr4:138760613-138868332 (+)
C57BL/6NJ MGP_C57BL6NJ_G0029412
 protein coding gene Chr4:145538939-145654432 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0026683
 protein coding gene Chr4:127551347-127655738 (+)
CAST/EiJ MGP_CASTEiJ_G0028117
 protein coding gene Chr4:136908710-137025883 (+)
CBA/J MGP_CBAJ_G0028650
 protein coding gene Chr4:149697632-149819136 (+)
DBA/2J MGP_DBA2J_G0028799
 protein coding gene Chr4:134943349-135049666 (+)
FVB/NJ MGP_FVBNJ_G0028766
 protein coding gene Chr4:133958354-134071477 (+)
LP/J MGP_LPJ_G0028898
 protein coding gene Chr4:140636672-140748561 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0028792
 protein coding gene Chr4:153709631-153822545 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0029450
 protein coding gene Chr4:138892175-139009009 (+)
PWK/PhJ MGP_PWKPhJ_G0027837
 protein coding gene Chr4:131777875-131885616 (+)
SPRET/EiJ MGP_SPRETEiJ_G0027663
 protein coding gene Chr4:134682984-134799487 (+)
WSB/EiJ MGP_WSBEiJ_G0028195
 protein coding gene Chr4:139123822-139236583 (+)



Homology
more
  • Human Ortholog
    ECE1, endothelin converting enzyme 1
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    ECE1, endothelin converting enzyme 1
  • Synonyms
    ECE
  • Links
    NCBI Gene ID: 1889
    neXtProt AC: NX_P42892
    UniProt: P42892

  • Chr Location
    1p36.12; chr1:21217247-21345572 (-)  GRCh38
Human Diseases
more
  • Diseases
    1 with Ece1 mouse models; 4 with human ECE1 associations

Human Disease Mouse Models
      
IDs
 View 2 models
      
IDs
IDs
IDs
IDs
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
less
  • Phenotype Summary
    49 phenotypes from 1 allele in 4 genetic backgrounds
    14 phenotypes from multigenic genotypes
    2 images
    28 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.
Homozygotes for targeted null mutations show cardiac and craniofacial abnormalities and embryonic mortality.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    73
  • GO References
    9
Molecular Function

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

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
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
    841
  • Tissues
    59
  • cDNA Data
    20
  • Literature Summary
    14
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 230857 NCBI Gene Model | MGI Sequence Detail 102993 C57BL/6J ±  kb
    transcript NM_199307 RefSeq | MGI Sequence Detail 4856 C57BL/6  
    polypeptide Q4PZA2 UniProt | EBI | MGI Sequence Detail 769 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 24
      Genomic 1
      cDNA 21
      Primer pair 2

      Microarray probesets 5
    Other
    Accession IDs
    less
    MGI:2140570
    References
    more
    • Summaries
      All 74
      Developmental Gene Expression 14
      Diseases 1
      Gene Ontology 9
      Phenotypes 28
    • 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:355536 Eckman EA, et al., Nascent Abeta42 Fibrillization in Synaptic Endosomes Precedes Plaque Formation in a Mouse Model of Alzheimer's-like beta-Amyloidosis. J Neurosci. 2023 Dec 13;43(50):8812-8824
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
    Citing These Resources
    Funding Information
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    Send questions and comments to User Support.     		last database update
    11/12/2024
    MGI 6.24     		The Jackson Laboratory