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Ethe1 ethylmalonic encephalopathy 1 [ Mus musculus (house mouse) ]

Gene ID: 66071, updated on 8-Mar-2025

Summary

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Official Symbol
Ethe1provided by MGI
Official Full Name
ethylmalonic encephalopathy 1provided by MGI
Primary source
MGI:MGI:1913321
See related
Ensembl:ENSMUSG00000064254 AllianceGenome:MGI:1913321
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
Hsco; 0610025L15Rik
Summary
Predicted to enable identical protein binding activity; iron ion binding activity; and sulfur dioxygenase activity. Predicted to be involved in glutathione metabolic process and hydrogen sulfide metabolic process. Located in mitochondrion. Is expressed in gallbladder; genitourinary system; gut; nervous system; and vascular system. Used to study ethylmalonic encephalopathy. Human ortholog(s) of this gene implicated in ethylmalonic encephalopathy. Orthologous to human ETHE1 (ETHE1 persulfide dioxygenase). [provided by Alliance of Genome Resources, Mar 2025]
Expression
Biased expression in colon adult (RPKM 269.1), stomach adult (RPKM 86.6) and 8 other tissues See more
Orthologs
human all
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Genomic context

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See Ethe1 in Genome Data Viewer
Location:
7 A3; 7 11.66 cM
Exon count:
9
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 7 NC_000073.7 (24286968..24308350)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 7 NC_000073.6 (24587543..24608925)

Chromosome 7 - NC_000073.7Genomic Context describing neighboring genes Neighboring gene STARR-seq mESC enhancer starr_18269 Neighboring gene phospholipase A2 inhibitor and LY6/PLAUR domain containing Neighboring gene X-ray repair complementing defective repair in Chinese hamster cells 1 Neighboring gene zinc finger protein 575 Neighboring gene STARR-seq mESC enhancer starr_18271 Neighboring gene STARR-positive B cell enhancer ABC_E4903 Neighboring gene pleckstrin homology like domain, family B, member 3 Neighboring gene predicted gene, 26550 Neighboring gene Ly6/Plaur domain containing 3

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

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Related articles in PubMed

  1. Proteome adaptations in Ethe1-deficient mice indicate a role in lipid catabolism and cytoskeleton organization via post-translational protein modifications. Hildebrandt TM, et al. Biosci Rep, 2013 Jul 25. PMID 23800285, Free PMC Article
  2. Loss of ETHE1, a mitochondrial dioxygenase, causes fatal sulfide toxicity in ethylmalonic encephalopathy. Tiranti V, et al. Nat Med, 2009 Feb. PMID 19136963
  3. Interactome Analysis Reveals Regulator of G Protein Signaling 14 (RGS14) is a Novel Calcium/Calmodulin (Ca(2+)/CaM) and CaM Kinase II (CaMKII) Binding Partner. Evans PR, et al. J Proteome Res, 2018 Apr 6. PMID 29518331, Free PMC Article
  4. Integrated analysis of protein composition, tissue diversity, and gene regulation in mouse mitochondria. Mootha VK, et al. Cell, 2003 Nov 26. PMID 14651853
  5. Irisin Mediates Effects on Bone and Fat via αV Integrin Receptors. Kim H, et al. Cell, 2018 Dec 13. PMID 30550785, Free PMC Article

See all (26) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Ethe1 deficiency disrupts post translational amino acid modification and mitochondrial metabolic systems.
    Title: Proteome adaptations in Ethe1-deficient mice indicate a role in lipid catabolism and cytoskeleton organization via post-translational protein modifications.
Submit: New GeneRIF Correction

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Endonuclease-mediated (1) 
  • Targeted (3)  1 citation

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC102424

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables identical protein binding IEA
Inferred from Electronic Annotation
more info
  
enables identical protein binding ISO
Inferred from Sequence Orthology
more info
  
enables iron ion binding ISO
Inferred from Sequence Orthology
more info
  
enables iron ion binding ISS
Inferred from Sequence or Structural Similarity
more info
  
enables sulfur dioxygenase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables sulfur dioxygenase activity ISO
Inferred from Sequence Orthology
more info
  
enables sulfur dioxygenase activity ISS
Inferred from Sequence or Structural Similarity
more info
  
Process Evidence Code Pubs
involved_in glutathione metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in glutathione metabolic process ISO
Inferred from Sequence Orthology
more info
  
involved_in glutathione metabolic process ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in hydrogen sulfide metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in hydrogen sulfide metabolic process ISO
Inferred from Sequence Orthology
more info
  
involved_in hydrogen sulfide metabolic process ISS
Inferred from Sequence or Structural Similarity
more info
  
Component Evidence Code Pubs
located_in cytoplasm ISO
Inferred from Sequence Orthology
more info
  
located_in mitochondrial matrix IEA
Inferred from Electronic Annotation
more info
  
located_in mitochondrion HDA PubMed 
is_active_in mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in mitochondrion ISO
Inferred from Sequence Orthology
more info
  
located_in nucleoplasm IEA
Inferred from Electronic Annotation
more info
  
located_in nucleoplasm ISO
Inferred from Sequence Orthology
more info
  

General protein information

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Preferred Names
persulfide dioxygenase ETHE1, mitochondrial
Names
ethylmalonic encephalopathy protein 1 homolog
hepatoma subtracted clone one protein
protein ETHE1, mitochondrial
sulfur dioxygenase ETHE1
NP_001350943.1
NP_075643.1
XP_030098739.1
XP_030098740.1
XP_030098741.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001364014.1 → NP_001350943.1  persulfide dioxygenase ETHE1, mitochondrial precursor

    Status: VALIDATED

    Source sequence(s)
    AI467554, AK002666
    Consensus CDS
    CCDS20957.1
    UniProtKB/Swiss-Prot
    Q9DCM0, Q9ESL5
    Conserved Domains (1) summary
    PLN02962
    Location:13 → 254
    PLN02962; hydroxyacylglutathione hydrolase

  2. NM_023154.4 → NP_075643.1  persulfide dioxygenase ETHE1, mitochondrial precursor

    See identical proteins and their annotated locations for NP_075643.1

    Status: VALIDATED

    Source sequence(s)
    AC161166
    Consensus CDS
    CCDS20957.1
    UniProtKB/Swiss-Prot
    Q9DCM0, Q9ESL5
    Related
    ENSMUSP00000076433.7, ENSMUST00000077191.7
    Conserved Domains (1) summary
    PLN02962
    Location:13 → 254
    PLN02962; hydroxyacylglutathione hydrolase

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000073.7 Reference GRCm39 C57BL/6J

    Range
    24286968..24308350
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_030242879.1 → XP_030098739.1  persulfide dioxygenase ETHE1, mitochondrial isoform X1

    UniProtKB/Swiss-Prot
    Q9DCM0, Q9ESL5
    Conserved Domains (1) summary
    PLN02962
    Location:13 → 254
    PLN02962; hydroxyacylglutathione hydrolase

  2. XM_030242881.1 → XP_030098741.1  persulfide dioxygenase ETHE1, mitochondrial isoform X1

    UniProtKB/Swiss-Prot
    Q9DCM0, Q9ESL5
    Conserved Domains (1) summary
    PLN02962
    Location:13 → 254
    PLN02962; hydroxyacylglutathione hydrolase

  3. XM_030242880.1 → XP_030098740.1  persulfide dioxygenase ETHE1, mitochondrial isoform X1

    UniProtKB/Swiss-Prot
    Q9DCM0, Q9ESL5
    Conserved Domains (1) summary
    PLN02962
    Location:13 → 254
    PLN02962; hydroxyacylglutathione hydrolase
Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9DCM0.2 GenPept UniProtKB/Swiss-Prot:Q9DCM0

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