ETHE1
Ethylmalonic encephalopathy 1 | |||||||||
---|---|---|---|---|---|---|---|---|---|
Identifiers | |||||||||
Symbols | ETHE1 ; HSCO; YF13H12 | ||||||||
External IDs | Template:OMIM5 Template:MGI HomoloGene: 8622 | ||||||||
| |||||||||
RNA expression pattern | |||||||||
More reference expression data | |||||||||
Orthologs | |||||||||
Template:GNF Ortholog box | |||||||||
Species | Human | Mouse | |||||||
Entrez | n/a | n/a | |||||||
Ensembl | n/a | n/a | |||||||
UniProt | n/a | n/a | |||||||
RefSeq (mRNA) | n/a | n/a | |||||||
RefSeq (protein) | n/a | n/a | |||||||
Location (UCSC) | n/a | n/a | |||||||
PubMed search | n/a | n/a |
Ethylmalonic encephalopathy 1, also known as ETHE1, is a human gene.[1]
This gene encodes a protein that is expressed in the thyroid.[1]
References
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.
This protein-related article is a stub. You can help Wikipedia by expanding it. |