• Gene id: 23474

Gene Summary

• Gene Symbol: ETHE1   Gene   UCSC   Ensembl
• Aliases: HSCO, YF13H12
• Gene name: ETHE1 persulfide dioxygenase
• Alternate names: persulfide dioxygenase ETHE1, mitochondrial, ethylmalonic encephalopathy 1, hepatoma subtracted clone one protein, protein ETHE1, mitochondrial, sulfur dioxygenase ETHE1,
• Gene location: 19q13.31 (43527200: 43506718)     Exons: 7     NC_000019.10
• Gene summary(Entrez): 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 thi
• OMIM: 608451

Protein Summary

• Protein general information: O95571  
  • Name: Persulfide dioxygenase ETHE1, mitochondrial (EC 1.13.11.18) (Ethylmalonic encephalopathy protein 1) (Hepatoma subtracted clone one protein) (Sulfur dioxygenase ETHE1)
  • Length: 254  
  • Mass: 27873
  • Tissue specificity: Ubiquitously expressed. {ECO
• Sequence:

  MAEAVLRVARRQLSQRGGSGAPILLRQMFEPVSCTFTYLLGDRESREAVLIDPVLETAPRDAQLIKELGLRLLYA
  VNTHCHADHITGSGLLRSLLPGCQSVISRLSGAQADLHIEDGDSIRFGRFALETRASPGHTPGCVTFVLNDHSMA
  FTGDALLIRGCGRTDFQQGCAKTLYHSVHEKIFTLPGDCLIYPAHDYHGFTVSTVEEERTLNPRLTLSCEEFVKI
  MGNLNLPKPQQIDFAVPANMRCGVQTPTA

• Structural information:
  • Interpro: IPR001279  IPR036866  
  • PDB: 4CHL
  • PDBsum: 4CHL
  • STRING: ENSP00000292147
• Other Databases: GeneCards:  ETHE1  Malacards:  ETHE1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005739	mitochondrion	IBA	cellular component
GO:0006749	glutathione metabolic process	IBA	biological process
GO:0070813	hydrogen sulfide metabolic process	IBA	biological process
GO:0016788	hydrolase activity, acting on ester bonds	IBA	molecular function
GO:0050313	sulfur dioxygenase activity	IBA	molecular function
GO:0050313	sulfur dioxygenase activity	IDA	molecular function
GO:0005506	iron ion binding	IDA	molecular function
GO:0070813	hydrogen sulfide metabolic process	IDA	biological process
GO:0006749	glutathione metabolic process	IDA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0051213	dioxygenase activity	IEA	molecular function
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0005739	mitochondrion	IEA	cellular component
GO:0050313	sulfur dioxygenase activity	IEA	molecular function
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0070221	sulfide oxidation, using sulfide:quinone oxidoreductase	TAS	biological process
GO:0005737	cytoplasm	IDA	cellular component
GO:0042802	identical protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005759	mitochondrial matrix	IEA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00920	Sulfur metabolism

Diseases

Associated diseases	References
Ethylmalonic encephalopathy	KEGG:H01249
Ethylmalonic encephalopathy	KEGG:H01249
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)