ETHE1 recombinant protein

ETHE1, 13-254aa, Human, His tag, E Coli

Cat. Num. AAA204119

• Gene Names: ETHE1; HSCO; YF13H12
• Applications: SDS-Page
• Purity: > 90% by SDS-PAGE
• Synonyms: ETHE1; 13-254aa; Human; His tag; E Coli; Protein ETHE1 mitochondrial; Protein ETHE1; mitochondrial; ; ETHE1 recombinant protein

• Host: E Coli
• Purity/Purification: > 90% by SDS-PAGE
• Form/Format: Liquid. 20mM Tris-HCl Buffer (pH 8.0) containing 10% glycerol, 0.1M NaCl
• Concentration: 1.0 mg/ml (determined by Bradford assay) (varies by lot)
• 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
• Sequence Length: 254

• Applicable Applications for ETHE1 recombinant protein: SDS-PAGE
• Antigen Species: Human
• Tag Information: His-tag
• Preparation and Storage: Can be stored at 4 degree C short term (1-2 weeks).; For long term storage, aliquot and store at -20 degree C or -70 degree C.; Avoid repeated freezing and thawing cycles.

SDS-Page

Related Product Information for ETHE1 recombinant protein

ETHE1 is a mitochondrial sulfur dioxygenase involved in catabolism of sulfide that accumulates to toxic levels in ethylmalonic encephalopathy. 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. Recombinant human ETHE1 protein, fused to His-tag at N-terminus, was expressed in E Coli and purified by using conventional chromatography.

Product Categories/Family for ETHE1 recombinant protein

Metabolism

References

Tiranti V. et al. (2009) Nat Med. 15:200-205.; Mineri R. et al. (2008) J Med Genet. 45:473-478

NCBI and Uniprot Product Information

• NCBI GI #: 41327741
• NCBI GeneID: 23474
• NCBI Accession #: NP_055112
• NCBI GenBank Nucleotide #: NM_014297.4
• UniProt Accession #: O95571; Q96HR0; Q9H001
• Molecular Weight: 29.1 kDa (267aa) confirmed by MALDI-TOF
• NCBI Official Full Name: persulfide dioxygenase ETHE1, mitochondrial isoform 1
• NCBI Official Synonym Full Names: ETHE1, persulfide dioxygenase
• NCBI Official Symbol: ETHE1
• NCBI Official Synonym Symbols: HSCO; YF13H12
• NCBI Protein Information: persulfide dioxygenase ETHE1, mitochondrial
• UniProt Protein Name: Persulfide dioxygenase ETHE1, mitochondrial
• Protein Family: Persulfide dioxygenase
• UniProt Gene Name: ETHE1
• UniProt Synonym Gene Names: HSCO

NCBI Description

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]

Uniprot Description

Sulfur dioxygenase that plays an essential role in hydrogen sulfide catabolism in the mitochondrial matrix. Hydrogen sulfide (H2S) 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 H2S 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 (PubMed:12398897).