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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
  • Gene Overview
    MyGene.info: ECEL1
Location & Maps
more
  • Sequence Map
    Chr1:87147655-87156521 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      8867 bp   ±  kb flank

  • Genome Browsers
Homology
more
  • Human Ortholog
    ECEL1, endothelin converting enzyme-like 1
  • Vertebrate Orthologs
    9
  • Human Ortholog
    ECEL1, endothelin converting enzyme-like 1
    Orthology source: HGNC, HomoloGene
  • Synonyms
    DA5D, DINE, ECEX, XCE
  • Links
    NCBI Gene ID: 9427
    neXtProt AC: NX_O95672

  • Chr Location
    2q37.1; chr2:232479827-232487859 (-)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with human ECEL1 associations

Human Disease Mouse Models
       Arthrogryposis, Distal, Type 5d; DA5D   OMIM: 615065
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    13 phenotypes from 2 alleles in 2 genetic backgrounds
    2 images
    8 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryogenesis
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
tumorigenesis
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    7
  • Chemically induced (other)
    1
  • Radiation induced
    1
  • Targeted
    5
  • Genomic Mutations
    2 involving Ecel1
  • Incidental Mutations
    APF , CvDC
Targeted mutations of this gene result in respiratory distress causing neonatal lethality due to reduced diaphram innervation.
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 OTTMUSG00000034823 VEGA Gene Model | MGI Sequence Detail 8867 C57BL/6J ±  kb
transcript OTTMUST00000088526 VEGA | MGI Sequence Detail 3033 Not Applicable  
polypeptide OTTMUSP00000048251 VEGA | MGI Sequence Detail 775 Not Applicable  
For the selected sequence
Polymorphisms
less
  • SNPs within 2kb
    36 from dbSNP Build 142
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 12
    cDNA 12

    Microarray probesets 4
References
more
  • Summaries
    All 27
    Developmental Gene Expression 3
    Gene Ontology 5
    Phenotypes 8
  • Earliest
    J:56300 Schweizer A, et al., Neonatal lethality in mice deficient in XCE, a novel member of the endothelin-converting enzyme and neutral endopeptidase family. J Biol Chem. 1999 Jul 16;274(29):20450-6
  • Latest
    J:224212 Vendrell V, et al., Otx2 is a target of N-myc and acts as a suppressor of sensory development in the mammalian cochlea. Development. 2015 Aug 15;142(16):2792-800

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
05/17/2016
MGI 6.03
The Jackson Laboratory