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Ethe1 Gene Detail
Summary
  • Symbol
    Ethe1
  • Name
    ethylmalonic encephalopathy 1
  • Synonyms
    0610025L15Rik
  • Feature Type
    protein coding gene
  • IDs
    MGI:1913321
    NCBI Gene: 66071
  • Gene Overview
    MyGene.info: ETHE1
  • Alliance
    gene page
  • Transcription Start Sites
    6 TSS
Location &
Maps
more
  • Sequence Map
    Chr7:24587543-24608925 bp, + strand
  • From NCBI annotation of GRCm38

    View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 7, 11.66 cM, cytoband A3
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    113 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1913321
 protein coding gene Chr7:24587543-24608925 (.)
129S1/SvImJ MGP_129S1SvImJ_G0031836
 protein coding gene Chr7:22912650-22941931 (+)
A/J MGP_AJ_G0031815
 protein coding gene Chr7:22387526-22408851 (+)
AKR/J MGP_AKRJ_G0031744
 protein coding gene Chr7:22888990-22910057 (+)
BALB/cJ MGP_BALBcJ_G0031821
 protein coding gene Chr7:22605715-22627451 (+)
C3H/HeJ MGP_C3HHeJ_G0031541
 protein coding gene Chr7:23307529-23330296 (+)
C57BL/6NJ MGP_C57BL6NJ_G0032284
 protein coding gene Chr7:23675867-23698716 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0029342
 protein coding gene Chr7:23855391-23879011 (+)
CAST/EiJ MGP_CASTEiJ_G0030882
 protein coding gene Chr7:16805268-16828197 (+)
CBA/J MGP_CBAJ_G0031506
 protein coding gene Chr7:24555633-24579720 (+)
DBA/2J MGP_DBA2J_G0031660
 protein coding gene Chr7:22301214-22322257 (+)
FVB/NJ MGP_FVBNJ_G0031613
 protein coding gene Chr7:22269891-22291675 (+)
LP/J MGP_LPJ_G0031739
 protein coding gene Chr7:23279392-23302730 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0031650
 protein coding gene Chr7:24321803-24345353 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0032316
 protein coding gene Chr7:22623565-22647672 (+)
PWK/PhJ MGP_PWKPhJ_G0030606
 protein coding gene Chr7:17192604-17217444 (+)
SPRET/EiJ MGP_SPRETEiJ_G0030436
 protein coding gene Chr7:13938582-13961505 (+)
WSB/EiJ MGP_WSBEiJ_G0030985
 protein coding gene Chr7:22736987-22766628 (+)



Homology
more
  • Human Ortholog
    ETHE1, ETHE1, persulfide dioxygenase
  • Vertebrate Orthologs
    10
  • Human Ortholog
    ETHE1, ETHE1, persulfide dioxygenase
    Orthology source: HGNC, HomoloGene
  • Synonyms
    HSCO, YF13H12
  • Links
    NCBI Gene ID: 23474
    neXtProt AC: NX_O95571
    UniProt: O95571

  • Chr Location
    19q13.31; chr19:43506719-43527256 (-)  GRCh38.p7
  • HomoloGene
    Vertebrate Homology Class 8622
    1 human;1 mouse;1 rat;1 chimpanzee;1 cattle;1 dog;1 chicken;1 zebrafish;1 frog, western clawed;1 macaque, rhesus
  • HCOP
    human homology predictions: ETHE1
  • Gene Tree
    Ethe1
Human Diseases
more
  • Diseases
    1 with Ethe1 mouse models; 1 with human ETHE1 associations

Human Disease Mouse Models
      
IDs
 View 1 model
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    12 phenotypes from 2 alleles in 2 genetic backgrounds
    11 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
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
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
    23
  • GO References
    6
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 death
cell differentiation
cell population proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
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
less
  • cDNA Data
    81
Interactions
less
Sequences &
Gene Models
less
Representative SequencesLengthStrain/SpeciesFlank
genomic 66071 NCBI Gene Model | MGI Sequence Detail 21383 C57BL/6J ±  kb
transcript NM_023154 RefSeq | MGI Sequence Detail 1484 C57BL/6  
polypeptide Q9DCM0 UniProt | EBI | MGI Sequence Detail 254 Not Applicable  
For the selected sequence
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 81
    cDNA 81

    Microarray probesets 3
References
more
  • Summaries
    All 35
    Diseases 1
    Gene Ontology 6
    Phenotypes 11
  • 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:236599 Dickinson ME, et al., High-throughput discovery of novel developmental phenotypes. Nature. 2016 Sep 14;537(7621):508-514
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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Send questions and comments to User Support. 		last database update
12/04/2018
MGI 6.13 		The Jackson Laboratory