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Ecel1 Gene Detail
Summary
  • Symbol
    Ecel1
  • Name
    endothelin converting enzyme-like 1
  • Synonyms
    DINE, XCE
  • Feature Type
    protein coding gene
  • IDs
    MGI:1343461
    NCBI Gene: 13599
  • Alliance
  • Transcription Start Sites
    1 TSS
Location &
Maps
more
  • Sequence Map
    Chr1:87075377-87084243 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
  • Genetic Map
    Chromosome 1, 44.06 cM, cytoband C5
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    207 from dbSNP Build 142
  • Strain Annotations
    19
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1343461
protein coding gene Chr1:87070596-87084867 (-)
129S1/SvImJ ENSMUSG00200037024
protein coding gene Chr1:84315984-84324848 (-)
A/J ENSMUSG00195027519
protein coding gene Chr1:83876422-83885285 (-)
AKR/J ENSMUSG00220041910
protein coding gene Chr1:83994944-84003815 (-)
BALB/cJ ENSMUSG00180014275
protein coding gene Chr1:84164409-84173281 (-)
C3H/HeJ ENSMUSG00175001320
protein coding gene Chr1:84050852-84059714 (-)
C57BL/6NJ ENSMUSG00215027440
protein coding gene Chr1:83966295-83975161 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0014373
protein coding gene Chr1:79626165-79634910 (-)
CAST/EiJ ENSTCUG00005006923
protein coding gene Chr1:83608256-83617111 (-)
CBA/J ENSMUSG00210012328
protein coding gene Chr1:83888666-83897532 (-)
DBA/2J ENSMUSG00185016422
protein coding gene Chr1:88360786-88369648 (-)
FVB/NJ ENSMUSG00205038881
protein coding gene Chr1:83310476-83319340 (-)
JF1/MsJ ENSUMUG00000012981
protein coding gene Chr1:87116121-87124978 (-)
LP/J ENSMUSG00230020578
protein coding gene Chr1:87645541-87654404 (-)
NOD/ShiLtJ ENSMUSG00190020941
protein coding gene Chr1:83943916-83952783 (-)
NZO/HlLtJ ENSMUSG00225003301
protein coding gene Chr1:91548252-91557116 (-)
PWK/PhJ ENSLUMG00010044590
protein coding gene Chr1:83498442-83507284 (-)
SPRET/EiJ ENSMSPG00010038828
protein coding gene Chr1:85514619-85523473 (-)
WSB/EiJ ENSIUOG00005039235
protein coding gene Chr1:83538950-83547817 (-)



Homology
more
  • Human Ortholog
    ECEL1, endothelin converting enzyme like 1
  • Vertebrate Orthologs
    2
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    ECEL1, endothelin converting enzyme like 1
  • Synonyms
    DA5D, DINE, ECEX, XCE
  • Links
    NCBI Gene ID: 9427
    UniProt: O95672

  • Chr Location
    2q37.1; chr2:232479825-232489045 (-)  GRCh38

Human Diseases
more
  • Diseases
    1 with Ecel1 mouse models; 1 with human ECEL1 associations

Human Disease Mouse Models
      
IDs
View 2 models
      
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    2 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    14 phenotypes from 4 alleles in 5 genetic backgrounds
    3 phenotypes from multigenic genotypes
    2 images
    14 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.
Targeted mutations of this gene result in respiratory distress causing neonatal lethality due to reduced diaphram innervation.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
  • GO References
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
  • Tissues
  • cDNA Data
  • Literature Summary
  • Comparison Matrix
  • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000026247 Ensembl Gene Model | MGI Sequence Detail 8867 C57BL/6J ±  kb
    transcript ENSMUST00000160810 Ensembl | MGI Sequence Detail 2898 Not Applicable  
    polypeptide ENSMUSP00000125557 Ensembl | MGI Sequence Detail 775 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 15
      cDNA 13
      Primer pair 1
      Other 1
      Antibodies 1

      Microarray probesets 4
    References
    more
    • Summaries
      All 52
      Developmental Gene Expression 15
      Diseases 1
      Gene Ontology 6
      Phenotypes 14
    • Earliest
      J:134667 Roderick TH, et al., Two radiation-induced chromosomal inversions in mice (Mus musculus). Proc Natl Acad Sci U S A. 1970 Oct;67(2):961-7
    • Latest
      J:363693 Zouaghi Y, et al., Transcriptomic profiling of murine GnRH neurons reveals developmental trajectories linked to human reproduction and infertility. Theranostics. 2025;15(8):3673-3692

    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)
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    Funding Information
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    last database update
    09/15/2026
    MGI 6.29
    The Jackson Laboratory