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

    Gene ID: 66071, updated on 27-Nov-2024

    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, Nov 2024]
    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

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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