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Ethe1
Gene Detail
Symbol

Name
ID
Ethe1
ethylmalonic encephalopathy 1
MGI:1913321
Synonyms
0610025L15Rik
Feature Type
protein coding gene
Genetic Map
Chromosome 7
11.66 cM, cytoband A3
Detailed Genetic Map ± 1 cM


Mapping data(2)
Sequence Map
Chr7:24587543-24608925 bp, + strand
From VEGA annotation of GRCm38

  21383 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:8622  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog; 1 zebrafish

Gene Tree: Ethe1

Human
homologs
Human Homolog ETHE1, ethylmalonic encephalopathy 1
NCBI Gene ID 23474
neXtProt AC  NX_O95571
Human Synonyms  HSCO, YF13H12
Human Chr (Location)  19q13.31; chr19:43506719-43527244 (-)  GRCh38
Disease Associations  (1) Diseases Associated with Human ETHE1
Mutations,
alleles, and
phenotypes
All mutations/alleles(7) : Gene trapped(2) Targeted(5)
Incidental mutations (data from Mutagenetix , APF )
 
Mice homozygous for a null mutation display premature death with elevated levels of hydrogen sulfide and thiosulfates.
 
Human Diseases Modeled Using Mouse Ethe1 (1)    Alleles Annotated to Human Diseases(1)   
Interactions
Ethe1 interacts with 13 markers (Mir33, Mir34a, Mir138-1, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (12 annotations)
Process glutathione metabolic process, hydrogen sulfide metabolic process, ...
Component cytoplasm, mitochondrion, ...
Function dioxygenase activity, iron ion binding, ...
External Resources: FuncBase
Expression
cDNA source data(80)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(80) cDNA(80)
Microarray probesets(3)
Other database
links
VEGA Gene ModelOTTMUSG00000031266 (Evidence)
Ensembl Gene ModelENSMUSG00000064254 (Evidence)
Entrez Gene66071 (Evidence)
UniGene29553
DFCITC1577149
NIA Mouse Gene IndexU116750
EC1.13.11.18
Consensus CDS ProjectCCDS20957.1
International Mouse Knockout Project StatusEthe1
Sequences
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 sequences
All sequences(22) RefSeq(4) UniProt(1)
Polymorphisms
SNPs within 2kb(113 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR001279 Beta-lactamase-like
Protein Ontology PR:000007218 protein ETHE1, mitochondrial
References
(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
All references(33)
Disease annotation references (1)

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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last database update
10/08/2014
MGI 5.20
The Jackson Laboratory