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    ETHE1 ETHE1 persulfide dioxygenase [ Homo sapiens (human) ]

    Gene ID: 23474, updated on 3-Apr-2024

    Summary

    Official Symbol
    ETHE1provided by HGNC
    Official Full Name
    ETHE1 persulfide dioxygenaseprovided by HGNC
    Primary source
    HGNC:HGNC:23287
    See related
    Ensembl:ENSG00000105755 MIM:608451; AllianceGenome:HGNC:23287
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    HSCO; YF13H12
    Summary
    This gene encodes a member of the metallo beta-lactamase family of iron-containing proteins involved in the mitochondrial sulfide oxidation pathway. The encoded protein catalyzes the oxidation of a persulfide substrate to sulfite. Certain mutations in this gene cause ethylmalonic encephalopathy, an infantile metabolic disorder affecting the brain, gastrointestinal tract and peripheral vessels. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2016]
    Expression
    Broad expression in colon (RPKM 85.9), duodenum (RPKM 30.9) and 20 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See ETHE1 in Genome Data Viewer
    Location:
    19q13.31
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (43506719..43527201, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (46327106..46348785, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (44010871..44031353, complement)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14723 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14724 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10717 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:43967981-43968512 Neighboring gene LY6/PLAUR domain containing 3 Neighboring gene pleckstrin homology like domain family B member 3 Neighboring gene Sharpr-MPRA regulatory region 2471 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:44008034-44008556 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10719 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:44017305-44017805 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10720 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:44029999-44030504 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:44030505-44031009 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10721 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:44035307-44035478 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10722 Neighboring gene zinc finger protein 575 Neighboring gene X-ray repair cross complementing 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:44067237-44067737 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10723 Neighboring gene phospholipase A2 inhibitor and LY6/PLAUR domain containing

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    HIV-1 interactions

    Replication interactions

    Interaction Pubs
    Knockdown of ethylmalonic encephalopathy 1 (ETHE1) by siRNA inhibits HIV-1 replication in HeLa-derived TZM-bl cells PubMed

    Protein interactions

    Protein Gene Interaction Pubs
    Vpr vpr A stable-isotope labeling by amino acids in cell culture coupled with mass spectrometry-based proteomics identifies downregulation of ethylmalonic encephalopathy 1 (ETHE1) expression by HIV-1 Vpr in Vpr transduced macrophages PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables iron ion binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables sulfur dioxygenase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables sulfur dioxygenase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in glutathione metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in glutathione metabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in hydrogen sulfide metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in hydrogen sulfide metabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
     
    located_in mitochondrial matrix TAS
    Traceable Author Statement
    more info
     
    is_active_in mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     

    General protein information

    Preferred Names
    persulfide dioxygenase ETHE1, mitochondrial
    Names
    ethylmalonic encephalopathy 1
    hepatoma subtracted clone one protein
    protein ETHE1, mitochondrial
    sulfur dioxygenase ETHE1
    NP_001307796.1
    NP_001307797.1
    NP_001307798.1
    NP_055112.2
    XP_005258744.1
    XP_054176373.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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.

    Genomic

    1. NG_008141.1 RefSeqGene

      Range
      5044..25526
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001320867.2NP_001307796.1  persulfide dioxygenase ETHE1, mitochondrial isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 5' coding region, compared to variant 1. It encodes isoform 2, which is shorter than isoform 1.
      Source sequence(s)
      BC008250, BP252912, KU178566
      UniProtKB/TrEMBL
      A0A0S2Z580, M0QXB5
      Conserved Domains (2) summary
      PLN02962
      Location:13243
      PLN02962; hydroxyacylglutathione hydrolase
      cd07724
      Location:24186
      POD-like_MBL-fold; ETHE1 (PDO type I), persulfide dioxygenase A (PDOA, PDO type II) and related proteins; MBL-fold metallo-hydrolase domain
    2. NM_001320868.2NP_001307797.1  persulfide dioxygenase ETHE1, mitochondrial isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR, lacks a portion of the 5' coding region and initiates translation at an alternate start site, compared to variant 1. It encodes isoform 3, which is shorter and has a distinct N-terminus compared to isoform 1.
      Source sequence(s)
      BC008250, BG706505
      UniProtKB/Swiss-Prot
      O95571
      Conserved Domains (1) summary
      cl23716
      Location:274
      metallo-hydrolase-like_MBL-fold; mainly hydrolytic enzymes and related proteins which carry out various biological functions; MBL-fold metallohydrolase domain
    3. NM_001320869.2NP_001307798.1  persulfide dioxygenase ETHE1, mitochondrial isoform 4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) lacks two alternate exons in the 5' coding region, compared to variant 1. It encodes isoform 4, which is shorter than isoform 1.
      Source sequence(s)
      BC008250, BP252912, KU178567
      UniProtKB/TrEMBL
      A0A0S2Z5N8
      Conserved Domains (1) summary
      cl23716
      Location:2999
      metallo-hydrolase-like_MBL-fold; mainly hydrolytic enzymes and related proteins which carry out various biological functions; MBL-fold metallohydrolase domain
    4. NM_014297.5NP_055112.2  persulfide dioxygenase ETHE1, mitochondrial isoform 1

      See identical proteins and their annotated locations for NP_055112.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      BC008250, BP252912, D83198
      Consensus CDS
      CCDS12622.1
      UniProtKB/Swiss-Prot
      O95571, Q96HR0, Q9H001
      UniProtKB/TrEMBL
      A0A0S2Z5B3, M0QXB5
      Related
      ENSP00000292147.1, ENST00000292147.7
      Conserved Domains (1) summary
      cl25711
      Location:13254
      HAGH_C; Hydroxyacylglutathione hydrolase C-terminus

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      43506719..43527201 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005258687.5XP_005258744.1  persulfide dioxygenase ETHE1, mitochondrial isoform X1

      See identical proteins and their annotated locations for XP_005258744.1

      UniProtKB/TrEMBL
      B2RCZ7, M0QXB5
      Conserved Domains (1) summary
      PLN02962
      Location:1227
      PLN02962; hydroxyacylglutathione hydrolase

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      46327106..46348785 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054320398.1XP_054176373.1  persulfide dioxygenase ETHE1, mitochondrial isoform X1

      UniProtKB/TrEMBL
      B2RCZ7