ETHE1

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Ethylmalonic encephalopathy 1
Identifiers
Symbol(s) ETHE1; HSCO; YF13H12
External IDs OMIM: 608451 MGI: 1913321 HomoloGene: 8622
RNA expression pattern

More reference expression data
Orthologs
Human Mouse
Entrez 23474 66071
Ensembl ENSG00000105755 ENSMUSG00000064254
Uniprot O95571 Q9DCM0
Refseq NM_014297 (mRNA)
NP_055112 (protein)		 NM_023154 (mRNA)
NP_075643 (protein)
Location Chr 19: 48.7 - 48.72 Mb Chr 7: 24.3 - 24.32 Mb
Pubmed search [1] [2]

Ethylmalonic encephalopathy 1, also known as ETHE1, is a human gene.[1]

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

[edit] References

  1. ^ a b Entrez Gene: ETHE1 ethylmalonic encephalopathy 1.

[edit] 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. 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. 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. 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. 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. 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. 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. 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. PMID 11256614. 
  • Hartley JL, Temple GF, Brasch MA (2001). "DNA cloning using in vitro site-specific recombination.". Genome Res. 10 (11): 1788–95. PMID 11076863. 
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