ETHE1

Ethylmalonic encephalopathy 1

Identifiers

ETHE1 ; HSCO; YF13H12

External IDs

OMIM: 608451 MGI: 1913321 HomoloGene: 8622 GeneCards: ETHE1 Gene

Gene ontology
Molecular function	• iron ion binding • hydrolase activity • sulfur dioxygenase activity
Cellular component	• nucleus • nucleolus • cytoplasm • mitochondrion • mitochondrial matrix
Biological process	• sulfur amino acid metabolic process • sulfur amino acid catabolic process • glutathione metabolic process • cellular nitrogen compound metabolic process • small molecule metabolic process • sulfide oxidation, using sulfide:quinone oxidoreductase • hydrogen sulfide metabolic process
Sources: Amigo / QuickGO

RNA expression pattern

More reference expression data

Orthologs

Species

Human

Mouse

ENSG00000105755

ENSMUSG00000064254

RefSeq (mRNA)

RefSeq (protein)

Location (UCSC)

Chr 19:
44.01 – 44.03 Mb

Chr 7:
24.59 – 24.61 Mb

PubMed search

Protein ETHE1, mitochondrial is a protein that in humans is encoded by the ETHE1 gene.^[1] Mutations in ETHE1 are thought to cause ethylmalonic encephalopathy^[2]

This gene encodes a protein that is expressed in the thyroid.^[1]

Interactions

ETHE1 has been shown to interact with RELA.^[3]

References

↑ 1.0 1.1 "Entrez Gene: ETHE1 ethylmalonic encephalopathy 1".
↑ "Encephalopathy, Ethylmalonic". Johns Hopkins University. Retrieved 2012-05-12.
↑ Higashitsuji, Hisako; Higashitsuji Hiroaki; Nagao Toshikazu; Nonoguchi Kohsuke; Fujii Shingo; Itoh Katsuhiko; Fujita Jun (Oct 2002). "A novel protein overexpressed in hepatoma accelerates export of NF-kappa B from the nucleus and inhibits p53-dependent apoptosis". Cancer Cell (United States) 2 (4): 335–46. doi:10.1016/S1535-6108(02)00152-6. ISSN 1535-6108. PMID 12398897.

Further reading

McCoy JG; Bingman CA; Bitto E et al. (2007). "Structure of an ETHE1-like protein from Arabidopsis thaliana". Acta Crystallogr. D Biol. Crystallogr. 62 (Pt 9): 964–70. doi:10.1107/S0907444906020592. PMID 16929096.
Mehrle A; Rosenfelder H; Schupp I et al. (2006). "The LIFEdb database in 2006". Nucleic Acids Res. 34 (Database issue): D415–8. doi:10.1093/nar/gkj139. PMC 1347501. PMID 16381901.
Rual JF; Venkatesan K; Hao T et al. (2005). "Towards a proteome-scale map of the human protein-protein interaction network". Nature 437 (7062): 1173–8. doi:10.1038/nature04209. PMID 16189514.
Tiranti V; Briem E; Lamantea E et al. (2006). "ETHE1 mutations are specific to ethylmalonic encephalopathy". J. Med. Genet. 43 (4): 340–6. doi:10.1136/jmg.2005.036210. PMC 2563233. PMID 16183799.
Wiemann S; Arlt D; Huber W et al. (2004). "From ORFeome to Biology: A Functional Genomics Pipeline". Genome Res. 14 (10B): 2136–44. doi:10.1101/gr.2576704. PMC 528930. PMID 15489336.
Gerhard DS; Wagner L; Feingold EA et al. (2004). "The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
Grimwood J; Gordon LA; Olsen A et al. (2004). "The DNA sequence and biology of human chromosome 19". Nature 428 (6982): 529–35. doi:10.1038/nature02399. PMID 15057824.
Tiranti V; D'Adamo P; Briem E et al. (2004). "Ethylmalonic Encephalopathy Is Caused by Mutations in ETHE1, a Gene Encoding a Mitochondrial Matrix Protein". Am. J. Hum. Genet. 74 (2): 239–52. doi:10.1086/381653. PMC 1181922. PMID 14732903.
Strausberg RL; Feingold EA; Grouse LH et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
Higashitsuji H; Higashitsuji H; Nagao T et al. (2003). "A novel protein overexpressed in hepatoma accelerates export of NF-kappa B from the nucleus and inhibits p53-dependent apoptosis". Cancer Cell 2 (4): 335–46. doi:10.1016/S1535-6108(02)00152-6. PMID 12398897.
Simpson JC; Wellenreuther R; Poustka A et al. (2001). "Systematic subcellular localization of novel proteins identified by large-scale cDNA sequencing". EMBO Rep. 1 (3): 287–92. doi:10.1093/embo-reports/kvd058. PMC 1083732. PMID 11256614.
Hartley JL, Temple GF, Brasch MA (2001). "DNA Cloning Using In Vitro Site-Specific Recombination". Genome Res. 10 (11): 1788–95. doi:10.1101/gr.143000. PMC 310948. PMID 11076863.