Persulfide dioxygenase ETHE1 Recombinant Protein | ETHE1 recombinant protein

Recombinant Human Persulfide dioxygenase ETHE1, mitochondrial

Cat. Num. AAA1089784

• Gene Names: ETHE1; HSCO; YF13H12
• Purity: Greater or equal to 85% purity as determined by SDS-PAGE.
• Synonyms: Persulfide dioxygenase ETHE1; Recombinant Human Persulfide dioxygenase ETHE1; mitochondrial; Ethylmalonic encephalopathy protein 1; Hepatoma subtracted clone one protein; Sulfur dioxygenase ETHE1; ETHE1 recombinant protein

• Host: E Coli or Yeast or Baculovirus or Mammalian Cell
• Purity/Purification: Greater or equal to 85% purity as determined by SDS-PAGE.
• Form/Format: Lyophilized or liquid (Format to be determined during the manufacturing process)
• Sequence Positions: 8-254aa; Full Length
• Sequence: VARRQLSQRGGSGAPILLRQMFEPVSCTFTYLLGDRESREAVLIDPVLETAPRDAQLIKELGLRLLYAVNTHCHADHITGSGLLRSLLPGCQSVISRLSGAQADLHIEDGDSIRFGRFALETRASPGHTPGCVTFVLNDHSMAFTGDALLIRGCGRTDFQQGCAKTLYHSVHEKIFTLPGDCLIYPAHDYHGFTVSTVEEERTLNPRLTLSCEEFVKIMGNLNLPKPQQIDFAVPANMRCGVQTPTA
• Sequence Length: 254

• Preparation and Storage: Store at -20 degree C, for extended storage, conserve at -20 degree C or -80 degree C.

SDS-PAGE

Related Product Information for ETHE1 recombinant protein

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.

Product Categories/Family for ETHE1 recombinant protein

Cell Biology

References

A novel protein overexpressed in hepatoma accelerates export of NF-kappa B from the nucleus and inhibits p53-dependent apoptosis.Higashitsuji H., Higashitsuji H., Nagao T., Nonoguchi K., Fujii S., Itoh K., Fujita J.Cancer Cell 2:335-346(2002) Ethylmalonic encephalopathy is caused by mutations in ETHE1, a gene encoding a mitochondrial matrix protein.Tiranti V., D'Adamo P., Briem E., Ferrari G., Mineri R., Lamantea E., Mandel H., Balestri P., Garcia-Silva M.-T., Vollmer B., Rinaldo P., Hahn S.H., Leonard J., Rahman S., Dionisi-Vici C., Garavaglia B., Gasparini P., Zeviani M.Am. J. Hum. Genet. 74:239-252(2004) The DNA sequence and biology of human chromosome 19.Grimwood J., Gordon L.A., Olsen A.S., Terry A., Schmutz J., Lamerdin J.E., Hellsten U., Goodstein D., Couronne O., Tran-Gyamfi M., Aerts A., Altherr M., Ashworth L., Bajorek E., Black S., Branscomb E., Caenepeel S., Carrano A.V., Caoile C., Chan Y.M., Christensen M., Cleland C.A., Copeland A., Dalin E., Dehal P., Denys M., Detter J.C., Escobar J., Flowers D., Fotopulos D., Garcia C., Georgescu A.M., Glavina T., Gomez M., Gonzales E., Groza M., Hammon N., Hawkins T., Haydu L., Ho I., Huang W., Israni S., Jett J., Kadner K., Kimball H., Kobayashi A., Larionov V., Leem S.-H., Lopez F., Lou Y., Lowry S., Malfatti S., Martinez D., McCready P.M., Medina C., Morgan J., Nelson K., Nolan M., Ovcharenko I., Pitluck S., Pollard M., Popkie A.P., Predki P., Quan G., Ramirez L., Rash S., Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A., She X., Smith D., Slezak T., Solovyev V., Thayer N., Tice H., Tsai M., Ustaszewska A., Vo N., Wagner M., Wheeler J., Wu K., Xie G., Yang J., Dubchak I., Furey T.S., DeJong P., Dickson M., Gordon D., Eichler E.E., Pennacchio L.A., Richardson P., Stubbs L., Rokhsar D.S., Myers R.M., Rubin E.M., Lucas S.M.Nature 428:529-535(2004) Loss of ETHE1, a mitochondrial dioxygenase, causes fatal sulfide toxicity in ethylmalonic encephalopathy.Tiranti V., Viscomi C., Hildebrandt T., Di Meo I., Mineri R., Tiveron C., Levitt M.D., Prelle A., Fagiolari G., Rimoldi M., Zeviani M.Nat. Med. 15:200-205(2009) Lysine acetylation targets protein complexes and co-regulates major cellular functions.Choudhary C., Kumar C., Gnad F., Nielsen M.L., Rehman M., Walther T.C., Olsen J.V., Mann M.Science 325:834-840(2009) Initial characterization of the human central proteome.Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J.BMC Syst. Biol. 5:17-17(2011) Characterization of patient mutations in human persulfide dioxygenase (ETHE1) involved in H2S catabolism.Kabil O., Banerjee R.J. Biol. Chem. 287:44561-44567(2012) An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.Bian Y., Song C., Cheng K., Dong M., Wang F., Huang J., Sun D., Wang L., Ye M., Zou H.J. Proteomics 96:253-262(2014) Identification of new mutations in the ETHE1 gene in a cohort of 14 patients presenting with ethylmalonic encephalopathy.Mineri R., Rimoldi M., Burlina A.B., Koskull S., Perletti C., Heese B., von Dobeln U., Mereghetti P., Di Meo I., Invernizzi F., Zeviani M., Uziel G., Tiranti V.J. Med. Genet. 45:473-478(2008)

NCBI and Uniprot Product Information

• NCBI GI #: 41327741
• NCBI GeneID: 23474
• NCBI Accession #: NP_055112.2
• NCBI GenBank Nucleotide #: NM_014297.3
• UniProt Accession #: O95571; Q96HR0; Q9H001
• Molecular Weight: 43.1 kDa
• NCBI Official Full Name: persulfide dioxygenase ETHE1, mitochondrial
• NCBI Official Synonym Full Names: ethylmalonic encephalopathy 1
• 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
• UniProt Entry Name: ETHE1_HUMAN

NCBI Description

This gene encodes a sulfur dioxygenase that localizes within the mitochondrial matrix. The enzyme functions in sulfide catabolism. Mutations in this gene result in ethylmalonic encephalopathy.[provided by RefSeq, May 2009]

Uniprot Description

ETHE1: Probably plays an important role in metabolic homeostasis in mitochondria. May function as a nuclear-cytoplasmic shuttling protein that binds transcription factor RELA/NFKB3 in the nucleus and exports it to the cytoplasm. Suppresses p53- induced apoptosis by preventing nuclear localization of RELA. Defects in ETHE1 are a cause of ethylmalonic encephalopathy (EE). EE is an autosomal recessive disorder characterized by neurodevelopmental delay and regression, recurrent petechiae, acrocyanosis, diarrhea, leading to death in the first decade of life. It is also associated with persistent lactic acidemia and ethylmalonic and methylsuccinic aciduria. Belongs to the metallo-beta-lactamase superfamily. Glyoxalase II family.

Protein type: Hydrolase; Mitochondrial; EC 1.13.11.18

Chromosomal Location of Human Ortholog: 19q13.31

Cellular Component: cytoplasm; mitochondrial matrix; mitochondrion; nucleoplasm

Molecular Function: iron ion binding; sulfur dioxygenase activity

Biological Process: glutathione metabolic process; sulfur amino acid catabolic process; sulfur amino acid metabolic process

Disease: Encephalopathy, Ethylmalonic