Recombinant Human ETHE1 Protein
Beta LifeScience
SKU/CAT #: BLA-3392P
Recombinant Human ETHE1 Protein
Beta LifeScience
SKU/CAT #: BLA-3392P
Collections: Other recombinant proteins, Recombinant proteins
Our products are highly customizable to meet your specific needs. You can choose options such as endotoxin removal, liquid or lyophilized forms, preferred tags, and the desired functional sequence range for proteins. Submitting a written inquiry expedites the quoting process.
Product Overview
Host Species | Human |
Accession | O95571 |
Synonym | Ethe1 ETHE1 protein, mitochondrial precursor ETHE1_HUMAN ethylmalonic encephalopathy 1 Ethylmalonic encephalopathy protein 1 hepatoma subtracted clone one Hepatoma subtracted clone one protein HSCO mitochondrial Protein ETHE1 Protein ETHE1 mitochondrial YF13H12 |
Description | Recombinant Human ETHE1 Protein was expressed in E.coli. It is a Full length protein |
Source | E.coli |
AA Sequence | MGSSHHHHHH SSGLVPRGSH MGSHMLSQRG GSGAPILLRQ MFEPVSCTFT YLLGDRESRE AVLIDPVLET APRDAQLIKE LGLRLLYAVN THCHADHITG SGLLRSLLPG CQSVISRLSG AQADLHIEDG DSIRFGRFAL ETRASPGHTP GCVTFVLNDH SMAFTGDALL IRGCGRTDFQ QGCAKTLYHS VHEKIFTLPG DCLIYPAHDY HGFTVSTVEE ERTLNPRLTL SCEEFVKIMG NLNLPKPQQI DFAVPANMRC GVQTPTA |
Molecular Weight | 29 kDa including tags |
Purity | >90% SDS-PAGE. |
Endotoxin | < 1.0 EU per μg of the protein as determined by the LAL method |
Formulation | Liquid Solution |
Stability | The recombinant protein samples are stable for up to 12 months at -80°C |
Reconstitution | See related COA |
Unit Definition | For Research Use Only |
Storage Buffer | Shipped at 4°C. Store at +4°C short term (1-2 weeks). Upon delivery aliquot. Store at -20°C or -80°C. Avoid freeze / thaw cycle. |
Target Details
Target Function | Sulfur dioxygenase that plays an essential role in hydrogen sulfide catabolism in the mitochondrial matrix. Hydrogen sulfide (H(2)S) is first oxidized by SQRDL, giving rise to cysteine persulfide residues. ETHE1 consumes molecular oxygen to catalyze the oxidation of the persulfide, once it has been transferred to a thiophilic acceptor, such as glutathione (R-SSH). Plays an important role in metabolic homeostasis in mitochondria by metabolizing hydrogen sulfide and preventing the accumulation of supraphysiological H(2)S levels that have toxic effects, due to the inhibition of cytochrome c oxidase. First described as a protein that can shuttle between the nucleus and the cytoplasm and suppress p53-induced apoptosis by sequestering the transcription factor RELA/NFKB3 in the cytoplasm and preventing its accumulation in the nucleus. |
Subcellular Location | Cytoplasm. Nucleus. Mitochondrion matrix. |
Protein Families | Metallo-beta-lactamase superfamily, Glyoxalase II family |
Database References | |
Associated Diseases | Ethylmalonic encephalopathy (EE) |
Tissue Specificity | Ubiquitously expressed. |
Gene Functions References
- observations indicate the severe impact of ETHE1 deficiency on cellular physiology and redox state PMID: 27074420
- ETHE1 is a major enzyme regulating endogenous glutathione persulfide /GS-(S)n-H and that its activity is controlled by polysulfidation of the Cys247 residue. PMID: 27742479
- ETHE1 R163W/R163Q mutations are associated with Ethylmalonic encephalopathy. PMID: 25198162
- Case Report: metabolic disturbances in 15-month-old male presenting with typical ethylmalonic encephalopathy associated with a homozygous ETHE1 mutation. PMID: 20978941
- T152I mutation of ETHE1 results in a 3-fold lower activity. PMID: 23144459
- role of the ETHE1 gene product in mitochondrial homeostasis and energy metabolism PMID: 14732903
- Mutations of ETHE1 were detected in all the typical ethylmalonic encephalopathy patients analysed, but no ETHE1 mutations were identified in patients presenting with early onset progressive encephalopathy with ethylmalonic aciduria. PMID: 16183799
- structural comparison of human ETHE1 and At1g53580 from Arabidopsis thaliana PMID: 16929096
- 14 patients with EE were investigated for mutations in the ETHE1 gene. Of the 14 patients, 5 were found to carry novel mutations. PMID: 18593870
- ETHE1 is a mitochondrial sulfur dioxygenase involved in catabolism of sulfide that accumulates to toxic levels in ethylmalonic encephalopathy. PMID: 19136963