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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
Location & Maps
more
  • Sequence Map
    Chr7:24587543-24608925 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser
  • Download
    Sequence
      21383 bp   ±  kb flank

  • Genome Browsers
    VEGA | Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 7, 11.66 cM, cytoband A3
  • Mapping Data
    2 experiments
Homology
more
  • Human Ortholog
    ETHE1, ETHE1, persulfide dioxygenase
  • Vertebrate Orthologs
    10
  • Human Ortholog
    ETHE1, ETHE1, persulfide dioxygenase
    Orthology source: HomoloGene, HGNC
  • Synonyms
    HSCO, YF13H12
  • Links
    NCBI Gene ID: 23474
    neXtProt AC: NX_O95571

  • Chr Location
    19q13.31; chr19:43506719-43527244 (-)  GRCh38.p2
  • HomoloGene
    Vertebrate Homology Class 8622
    1 human;1 mouse;1 rat;1 chimpanzee;1 rhesus macaque;1 cattle;1 dog;1 chicken;1 zebrafish;1 frog, western clawed
  • 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
       Encephalopathy, Ethylmalonic; EE   OMIM: 602473 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
    10 phenotypes from 1 allele in 1 genetic background
    9 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 mutation display premature death with elevated levels of hydrogen sulfide and thiosulfates.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    13
  • GO References
    4
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
less
  • cDNA Data
    80
Interactions
less
Sequences &
Gene Models
less
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000031266 VEGA Gene Model | MGI Sequence Detail 21383 C57BL/6J ±  kb
transcript OTTMUST00000077464 VEGA | MGI Sequence Detail 1484 Not Applicable  
polypeptide OTTMUSP00000040964 VEGA | MGI Sequence Detail 254 Not Applicable  
For the selected sequence
Polymorphisms
less
  • SNPs within 2kb
    113 from dbSNP Build 142
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 80
    cDNA 80

    Microarray probesets 3
References
more
  • Summaries
    All 31
    Diseases 1
    Gene Ontology 4
    Phenotypes 9
  • 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:173534 Skarnes WC, et al., A conditional knockout resource for the genome-wide study of mouse gene function. Nature. 2011 Jun 16;474(7351):337-42
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
09/20/2016
MGI 6.05 		The Jackson Laboratory