RNF213
From Wikipedia, the free encyclopedia
| Ring finger protein 213 | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Identifiers | |||||||||||||
| Symbols | RNF213; ALO17; C17orf27; KIAA1618; MYMY2; MYSTR; NET57 | ||||||||||||
| External IDs | OMIM: 613768 MGI: 1289196 HomoloGene: 133283 GeneCards: RNF213 Gene | ||||||||||||
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| Orthologs | |||||||||||||
| Species | Human | Mouse | |||||||||||
| Entrez | 57674 | 672511 | |||||||||||
| Ensembl | ENSG00000173821 | ENSMUSG00000070327 | |||||||||||
| UniProt | Q63HN8 | E9Q555 | |||||||||||
| RefSeq (mRNA) | NM_001256071 | NM_001040005.2 | |||||||||||
| RefSeq (protein) | NP_001243000 | XP_001476701.2 | |||||||||||
| Location (UCSC) | Chr 17: 78.23 – 78.37 Mb | Chr 11: 119.39 – 119.49 Mb | |||||||||||
| PubMed search | |||||||||||||
Ring finger protein 213 is a protein that in humans is encoded by the RNF213 gene.[1]
Clinical relevance
A genome-wide association study identified RNF213 as the first gene associated to Moyamoya disease.[2] Given that oxygen and glucose consumption scales with total neuron number, RNF213 may have played a role in facilitating the evolution of larger brains in primates.
References
- ↑ "Entrez Gene: ring finger protein 213".
- ↑ Kamada, F; Aoki, Y, Narisawa, A, Abe, Y, Komatsuzaki, S, Kikuchi, A, Kanno, J, Niihori, T, Ono, M, Ishii, N, Owada, Y, Fujimura, M, Mashimo, Y, Suzuki, Y, Hata, A, Tsuchiya, S, Tominaga, T, Matsubara, Y, Kure, S (January 2011). "A genome-wide association study identifies RNF213 as the first Moyamoya disease gene.". Journal of Human Genetics 56 (1): 34–40. doi:10.1038/jhg.2010.132. PMID 21048783.
Further reading
- Choudhary C, Kumar C, Gnad F, et al. (2009). "Lysine acetylation targets protein complexes and co-regulates major cellular functions.". Science 325 (5942): 834–40. doi:10.1126/science.1175371. PMID 19608861.
- Gautier VW, Gu L, O'Donoghue N, et al. (2009). "In vitro nuclear interactome of the HIV-1 Tat protein.". Retrovirology 6: 47. doi:10.1186/1742-4690-6-47. PMC 2702331. PMID 19454010.
- Cools J, Wlodarska I, Somers R, et al. (2002). "Identification of novel fusion partners of ALK, the anaplastic lymphoma kinase, in anaplastic large-cell lymphoma and inflammatory myofibroblastic tumor.". Genes Chromosomes Cancer 34 (4): 354–62. doi:10.1002/gcc.10033. PMID 12112524.
- Imami K, Sugiyama N, Kyono Y, et al. (2008). "Automated phosphoproteome analysis for cultured cancer cells by two-dimensional nanoLC-MS using a calcined titania/C18 biphasic column.". Anal Sci 24 (1): 161–6. PMID 18187866.
- Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs.". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
- Dephoure N, Zhou C, Villén J, et al. (2008). "A quantitative atlas of mitotic phosphorylation.". Proc. Natl. Acad. Sci. U.S.A. 105 (31): 10762–7. doi:10.1073/pnas.0805139105. PMC 2504835. PMID 18669648.
- Dias Neto E, Correa RG, Verjovski-Almeida S, et al. (2000). "Shotgun sequencing of the human transcriptome with ORF expressed sequence tags.". Proc. Natl. Acad. Sci. U.S.A. 97 (7): 3491–6. doi:10.1073/pnas.97.7.3491. PMC 16267. PMID 10737800.
- Han G, Ye M, Zhou H, et al. (2008). "Large-scale phosphoproteome analysis of human liver tissue by enrichment and fractionation of phosphopeptides with strong anion exchange chromatography.". Proteomics 8 (7): 1346–61. doi:10.1002/pmic.200700884. PMID 18318008.
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