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ETHE1 ETHE1 persulfide dioxygenase [ Homo sapiens (human) ]

Gene ID: 23474, updated on 5-Jan-2020

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
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

Genomic context

See ETHE1 in Genome Data Viewer
Location:
19q13.31
Exon count:
7
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 19 NC_000019.10 (43506719..43527201, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (44010871..44031408, complement)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes 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 zinc finger protein 575 Neighboring gene X-ray repair cross complementing 1 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

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
hydrolase activity, acting on ester bonds IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
iron ion binding IDA
Inferred from Direct Assay
more info
PubMed 
sulfur dioxygenase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
sulfur dioxygenase activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
glutathione metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
glutathione metabolic process IDA
Inferred from Direct Assay
more info
PubMed 
hydrogen sulfide metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
hydrogen sulfide metabolic process IDA
Inferred from Direct Assay
more info
PubMed 
sulfide oxidation, using sulfide:quinone oxidoreductase TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
cytoplasm IDA
Inferred from Direct Assay
more info
 
mitochondrial matrix TAS
Traceable Author Statement
more info
 
mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mitochondrion IDA
Inferred from Direct Assay
more info
 
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

NCBI Reference Sequences (RefSeq)

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/Swiss-Prot
    O95571
    UniProtKB/TrEMBL
    A0A0S2Z580
    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/Swiss-Prot
    O95571
    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
    UniProtKB/TrEMBL
    A0A0S2Z5B3
    Related
    ENSP00000292147.1, ENST00000292147.7
    Conserved Domains (1) summary
    cl25711
    Location:13254
    HAGH_C; Hydroxyacylglutathione hydrolase C-terminus

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20191205

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p13 Primary Assembly

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

mRNA and Protein(s)

  1. XM_005258687.4XP_005258744.1  persulfide dioxygenase ETHE1, mitochondrial isoform X1

    See identical proteins and their annotated locations for XP_005258744.1

    UniProtKB/Swiss-Prot
    O95571
    UniProtKB/TrEMBL
    B2RCZ7
    Conserved Domains (2) summary
    PLN02962
    Location:1227
    PLN02962; hydroxyacylglutathione hydrolase
    cd07724
    Location:2170
    POD-like_MBL-fold; ETHE1 (PDO type I), persulfide dioxygenase A (PDOA, PDO type II) and related proteins; MBL-fold metallo-hydrolase domain
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