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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
    gene page
  • 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
    Ensembl | UCSC | NCBI
  • 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
    18
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 MGP_129S1SvImJ_G0016257
 protein coding gene Chr1:88481990-88490853 (-)
A/J MGP_AJ_G0016238
 protein coding gene Chr1:85173404-85181564 (-)
AKR/J MGP_AKRJ_G0016199
 protein coding gene Chr1:87692197-87701067 (-)
BALB/cJ MGP_BALBcJ_G0016195
 protein coding gene Chr1:85295053-85303922 (-)
C3H/HeJ MGP_C3HHeJ_G0016023
 protein coding gene Chr1:87951878-87960038 (-)
C57BL/6NJ MGP_C57BL6NJ_G0016651
 protein coding gene Chr1:91823498-91832364 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0014373
 protein coding gene Chr1:79626165-79634910 (-)
CAST/EiJ MGP_CASTEiJ_G0015608
 protein coding gene Chr1:87154518-87163373 (-)
CBA/J MGP_CBAJ_G0015999
 protein coding gene Chr1:94692671-94701534 (-)
DBA/2J MGP_DBA2J_G0016102
 protein coding gene Chr1:84479365-84488227 (-)
FVB/NJ MGP_FVBNJ_G0016101
 protein coding gene Chr1:83539487-83548350 (-)
LP/J MGP_LPJ_G0016173
 protein coding gene Chr1:89547370-89556230 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0016127
 protein coding gene Chr1:97981571-97990437 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0016694
 protein coding gene Chr1:87790570-87799433 (-)
PWK/PhJ MGP_PWKPhJ_G0015395
 protein coding gene Chr1:83775379-83784221 (-)
SPRET/EiJ MGP_SPRETEiJ_G0015175
 protein coding gene Chr1:86714488-86723342 (-)
WSB/EiJ MGP_WSBEiJ_G0015672
 protein coding gene Chr1:87456757-87465619 (-)



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
    neXtProt AC: NX_O95672
    UniProt: O95672

  • Chr Location
    2q37.1; chr2:232479827-232487834 (-)  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
    17 phenotypes from 4 alleles in 5 genetic backgrounds
    2 images
    12 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
    10
  • GO References
    5
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
    780
  • Tissues
    48
  • cDNA Data
    13
  • Literature Summary
    13
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000026247 Ensembl Gene Model | MGI Sequence Detail 8867 C57BL/6J ±  kb
    transcript ENSMUST00000161002 Ensembl | MGI Sequence Detail 3033 Not Applicable  
    polypeptide ENSMUSP00000125096 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

      Microarray probesets 4
    References
    more
    • Summaries
      All 43
      Developmental Gene Expression 13
      Diseases 1
      Gene Ontology 5
      Phenotypes 12
    • 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:336178 Yao SQ, et al., Retinal transcriptome of neonatal mice after optic nerve injury. PLoS One. 2023;18(5):e0286344
    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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    Send questions and comments to User Support.     		last database update
    12/17/2024
    MGI 6.24     		The Jackson Laboratory