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Ethe1Gene Detail
Summary
  • Symbol
    Ethe1
  • Name
    ethylmalonic encephalopathy 1
  • Synonyms
    0610025L15Rik
  • Feature Type
    protein coding gene
  • IDs
    MGI:1913321
    NCBI Gene:66071
  • Alliance
  • Transcription Start Sites
    6 TSS
Location &
Maps
more
  • Sequence Map
    Chr7:24286968-24308350 bp, + strand
    From NCBI annotation of GRCm39
  • View this region inJBrowse
  • Genome Browsers
  • Genetic Map
    Chromosome 7, 11.66 cM, cytoband A3
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    719from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
StrainGene Model IDFeature TypeCoordinatesSelect Strains
C57BL/6JMGI_C57BL6J_1913321
protein coding geneChr7:24286968-24308350 (+)
129S1/SvImJMGP_129S1SvImJ_G0031836
protein coding geneChr7:22912650-22941931 (+)
A/JMGP_AJ_G0031815
protein coding geneChr7:22387526-22408851 (+)
AKR/JMGP_AKRJ_G0031744
protein coding geneChr7:22888990-22910057 (+)
BALB/cJMGP_BALBcJ_G0031821
protein coding geneChr7:22605715-22627451 (+)
C3H/HeJMGP_C3HHeJ_G0031541
protein coding geneChr7:23307529-23330296 (+)
C57BL/6NJMGP_C57BL6NJ_G0032284
protein coding geneChr7:23675867-23698716 (+)
CAROLI/EiJMGP_CAROLIEiJ_G0029342
protein coding geneChr7:23855391-23879011 (+)
CAST/EiJMGP_CASTEiJ_G0030882
protein coding geneChr7:16805268-16828197 (+)
CBA/JMGP_CBAJ_G0031506
protein coding geneChr7:24555633-24579720 (+)
DBA/2JMGP_DBA2J_G0031660
protein coding geneChr7:22301214-22322257 (+)
FVB/NJMGP_FVBNJ_G0031613
protein coding geneChr7:22269891-22291675 (+)
LP/JMGP_LPJ_G0031739
protein coding geneChr7:23279392-23302730 (+)
NOD/ShiLtJMGP_NODShiLtJ_G0031650
protein coding geneChr7:24321803-24345353 (+)
NZO/HlLtJMGP_NZOHlLtJ_G0032316
protein coding geneChr7:22623565-22647672 (+)
PWK/PhJMGP_PWKPhJ_G0030606
protein coding geneChr7:17192604-17217444 (+)
SPRET/EiJMGP_SPRETEiJ_G0030436
protein coding geneChr7:13938582-13961505 (+)
WSB/EiJMGP_WSBEiJ_G0030985
protein coding geneChr7:22736987-22766628 (+)



Homology
more
  • Human Ortholog
    ETHE1, ETHE1 persulfide dioxygenase
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    ETHE1,ETHE1 persulfide dioxygenase
  • Synonyms
    HSCO, YF13H12
  • Links
    NCBI Gene ID:23474
    neXtProt AC:NX_O95571
    UniProt:O95571

  • Chr Location
    19q13.31; chr19:43506719-43527230(-)  GRCh38
Human Diseases
more
  • Diseases
    1 with Ethe1 mouse models;1 with human ETHE1 associations

Human DiseaseMouse Models
    
IDs
ethylmalonic encephalopathy      
View 1 model
Mouse Models

Human Disease Modeled: ethylmalonic encephalopathy

Allelic CompositionGenetic BackgroundReferencePhenotypes
Ethe1tm1.1Zev/Ethe1tm1.1Zev
involves: 129S7/SvEvBrd * C57BL/6J:146537View

  • Mutations/Alleles
    1 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    12 phenotypesfrom 2 allelesin 2 genetic backgrounds
    13 phenotype references
Phenotype Overview

Phenotype Overview
Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.
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 mutation display premature death with elevated levels of hydrogen sulfide and thiosulfates.
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

Expression Overview
GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.
  • Blue cells = expressed in wild-type.
    Gray triangles = other expression annotations only
    (e.g. absence of expression or data from mutants).
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
Sequences &
Gene Models
less
Representative SequencesLengthStrain/SpeciesFlank
genomic66071NCBI Gene Model |MGI Sequence Detail21383C57BL/6J± kb
transcriptNM_023154RefSeq |MGI Sequence Detail1484C57BL/6 
polypeptideQ9DCM0UniProt |EBI |MGI Sequence Detail254Not Applicable 
For the selected sequence
Protein
Information
less
Molecular
Reagents
less
  • All nucleic81
    cDNA81

    Microarray probesets3
References
more
  • Summaries
    All44
    Developmental Gene Expression2
    Diseases1
    Gene Ontology11
    Phenotypes13
  • Earliest
    J:65060 Kawai J, et al., Functional annotation of a full-length mouse cDNA collection. Nature. 2001 Feb 8;409(6821):685-90
  • Latest
    J:345621 Adams DJ, et al., Genetic determinants of micronucleus formation in vivo. Nature. 2024 Mar;627(8002):130-136
TSS for Ethe1:
(View these features inJBrowse)
Transcription Start SiteLocationDistance from Gene 5'-end
Tssr2134Chr7:24293282-24293283 (+)6,315 bp
Tssr65010Chr7:24293285-24293303 (+)6,326 bp
Tssr65011Chr7:24293325-24293339 (+)6,364 bp
Tssr65012Chr7:24307739-24307759 (+)20,781 bp
Tssr65013Chr7:24307763-24307794 (+)20,811 bp
Tssr65014Chr7:24307804-24307818 (+)20,843 bp
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
03/18/2025
MGI 6.24		The Jackson Laboratory
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