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Echs1 Gene Detail
Summary
  • Symbol
    Echs1
  • Name
    enoyl Coenzyme A hydratase, short chain, 1, mitochondrial
  • Feature Type
    protein coding gene
  • IDs
    MGI:2136460
    NCBI Gene: 93747
  • Alliance
    genome feature page
  • Transcription Start Sites
    2 TSS
Location &
Maps
more
  • Sequence Map
    Chr7:139685623-139696334 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 7, 85.12 cM
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    481 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_2136460
 protein coding gene Chr7:139685623-139696389 (-)
129S1/SvImJ ENSMUSG00200042856
 protein coding gene Chr7:126250245-126261013 (-)
A/J ENSMUSG00195035884
 protein coding gene Chr7:130732626-130743393 (-)
AKR/J ENSMUSG00220034862
 protein coding gene Chr7:124196932-124207698 (-)
BALB/cJ ENSMUSG00180030426
 protein coding gene Chr7:127424870-127435637 (-)
C3H/HeJ ENSMUSG00175031766
 protein coding gene Chr7:128153151-128163918 (-)
C57BL/6NJ ENSMUSG00215043920
 protein coding gene Chr7:127419632-127430400 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0030631
 protein coding gene Chr7:142176443-142186998 (-)
CAST/EiJ ENSTCUG00005050463
 protein coding gene Chr7:130710546-130721104 (-)
CBA/J ENSMUSG00210026455
 protein coding gene Chr7:127879707-127890499 (-)
DBA/2J ENSMUSG00185015497
 protein coding gene Chr7:132189677-132200443 (-)
FVB/NJ ENSMUSG00205037405
 protein coding gene Chr7:127876448-127887243 (-)
JF1/MsJ ENSUMUG00000011576
 protein coding gene Chr7:137259766-137271576 (-)
LP/J ENSMUSG00230040710
 protein coding gene Chr7:138353231-138363997 (-)
NOD/ShiLtJ ENSMUSG00190023656
 protein coding gene Chr7:128018693-128029485 (-)
NZO/HlLtJ ENSMUSG00225049460
 protein coding gene Chr7:136562453-136573219 (-)
PWK/PhJ ENSLUMG00010045198
 protein coding gene Chr7:126406570-126418726 (-)
SPRET/EiJ no annotation
WSB/EiJ ENSIUOG00005032559
 protein coding gene Chr7:128706276-128717044 (-)



Homology
more
  • Human Ortholog
    ECHS1, enoyl-CoA hydratase, short chain 1
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    ECHS1, enoyl-CoA hydratase, short chain 1
  • Synonyms
    ECHS1D, mECH, mECH1, SCEH
  • Links
    NCBI Gene ID: 1892
    UniProt: P30084

  • Chr Location
    10q26.3; chr10:133362472-133373714 (-)  GRCh38
Human Diseases
more
  • Diseases
    1 with Echs1 mouse models; 1 with human ECHS1 associations

Human Disease Mouse Models
      
IDs
 View 1 model
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
    21 phenotypes from 4 alleles in 5 genetic backgrounds
    15 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.
Mice homozygous for a null allele exhibit complete embryonic lethality. Mice heterozygous for a null allele exhibit increased kidney lipid and free fatty acid content.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    35
  • GO References
    16
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
    815
  • Tissues
    110
  • cDNA Data
    179
  • Literature Summary
    8
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 93747 NCBI Gene Model | MGI Sequence Detail 10712 C57BL/6J ±  kb
    transcript NM_053119 RefSeq | MGI Sequence Detail 1530 C57BL/6  
    polypeptide Q8BH95 UniProt | EBI | MGI Sequence Detail 290 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 183
      cDNA 180
      Primer pair 3
      Antibodies 2

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGI:2142345
    References
    more
    • Summaries
      All 57
      Developmental Gene Expression 8
      Diseases 1
      Gene Ontology 16
      Phenotypes 15
    • Earliest
      J:60984 Ko MS, et al., Large-scale cDNA analysis reveals phased gene expression patterns during preimplantation mouse development. Development. 2000 Apr;127(8):1737-49
    • Latest
      J:391329 Duan CH, et al., Loss of Echs1 in neural stem and progenitor cells impairs neurogenesis via ER stress activation and lipid metabolic reprogramming. Nat Commun. 2026 Jul 1;17(1)
    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
    09/01/2026
    MGI 6.24     		The Jackson Laboratory