ETHE1 recombinant protein

ETHE1 Protein, Human, Recombinant (His Tag)

Cat. Num. AAA8121762

• Gene Names: ETHE1; HSCO; YF13H12
• Purity: >90% as determined by SDS-PAGE
• Synonyms: ETHE1; ETHE1 Protein; Human; Recombinant (His Tag); Human ETHE1/HSCO Protein (His Tag); HSCO Protein; YF13H12 Protein; ethylmalonic encephalopathy 1; ETHE1 recombinant protein

• Host: E Coli
• Purity/Purification: >90% as determined by SDS-PAGE
• Form/Format: Lyophilized from sterile PBS, pH7.4. Normally 5%-8% trehalose, mannitol and 0.01% Tween80 are added as protectants before lyophilization. Please refer to the specific buffer information in the hard copy of CoA.
• Sequence: Leu13-Ala254

• Species: Human
• Predicted N Terminal: His
• Tag: N-His
• Protein Construction: A DNA sequence encoding the human ETHE1 (O95571)(Leu13-Ala254) was expressed with a polyhistidine tag at the N-terminus.
• Reconstitution: A hardcopy of COA with reconstitution instruction is sent along with the products. Please refer to it for detailed information.
• Preparation and Storage: Samples are stable for up to twelve months from date of receipt at -20 degree C to -80 degree C. Store it under sterile conditions at -20 degree C to -80 degree C. It is recommended that the protein be aliquoted for optimal storage. Avoid repeated freeze-thaw cycles.; In general, recombinant proteins are provided as lyophilized powder which are shipped at ambient temperature. Bulk packages of recombinant proteins are provided as frozen liquid.; They are shipped out with blue ice.

SDS-Page

Related Product Information for ETHE1 recombinant protein

Background: ETHE1, also known as HSCO, is a sulfur dioxygenase that localizes within the mitochondrial matrix. ETHE1 probably plays an important role in metabolic homeostasis in mitochondria. It may also function as a nuclear-cytoplasmic shuttling protein that binds transcription factor RELA/NFKB3 in the nucleus and exports it to the cytoplasm. ETHE1 can suppresses p53-induced apoptosis by preventing nuclear localization of RELA. Mutations in ETHE1 gene result in ethylmalonic encephalopathy. Ethylmalonic encephalopathy is an autosomal recessive, invariably fatal disorder characterized by early-onset encephalopathy, microangiopathy, chronic diarrhea, defective cytochrome c oxidase (COX) in muscle and brain, high concentrations of C4 and C5 acylcarnitines in blood and high excretion of ethylmalonic acid in urine.

References

Higashitsuji. et al., 2002, Cancer Cell. 2 (4): 335-46. McCoy JG. et al., 2007, Acta Crystallogr D Biol Crystallogr. 62 (9): 964-70. Mehrle A. et al., 2006, Nucleic Acids Res. 34: D415-8.

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: 27,873 Da
• 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; ethylmalonic encephalopathy protein 1; hepatoma subtracted clone one protein; protein ETHE1, mitochondrial; sulfur dioxygenase ETHE1
• 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: nucleoplasm; mitochondrion; mitochondrial matrix; cytoplasm

Molecular Function: iron ion binding; sulfur dioxygenase activity

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

Disease: Encephalopathy, Ethylmalonic