RNF213
| Ring finger protein 213 | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Identifiers | |||||||||||||
| Symbols | RNF213 ; ALO17; C17orf27; KIAA1618; MYMY2; MYSTR; NET57 | ||||||||||||
| External IDs | OMIM: 613768 MGI: 1289196 HomoloGene: 45439 GeneCards: RNF213 Gene | ||||||||||||
| |||||||||||||
| Orthologs | |||||||||||||
| Species | Human | Mouse | |||||||||||
| Entrez | 57674 | 672511 | |||||||||||
| Ensembl | ENSG00000173821 | ENSMUSG00000070327 | |||||||||||
| UniProt | Q63HN8 | E9Q555 | |||||||||||
| RefSeq (mRNA) | NM_001256071 | NM_001040005 | |||||||||||
| RefSeq (protein) | NP_001243000 | n/a | |||||||||||
| Location (UCSC) |
Chr 17: 80.26 – 80.4 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 (Jan 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, Nielsen ML, Rehman M, Walther TC, Olsen JV, Mann M (Aug 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, Pennington S, Sheehy N, Hall WW (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, Mentens N, Pedeutour F, Maes B, De Wolf-Peeters C, Pauwels P, Hagemeijer A, Marynen P (Aug 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, Tomita M, Ishihama Y (Jan 2008). "Automated phosphoproteome analysis for cultured cancer cells by two-dimensional nanoLC-MS using a calcined titania/C18 biphasic column". Analytical Sciences 24 (1): 161–6. doi:10.2116/analsci.24.161. PMID 18187866.
- Dephoure N, Zhou C, Villén J, Beausoleil SA, Bakalarski CE, Elledge SJ, Gygi SP (Aug 2008). "A quantitative atlas of mitotic phosphorylation". Proceedings of the National Academy of Sciences of the United States of America 105 (31): 10762–7. doi:10.1073/pnas.0805139105. PMC 2504835. PMID 18669648.
- Dias Neto E, Correa RG, Verjovski-Almeida S, Briones MR, Nagai MA, da Silva W, Zago MA, Bordin S, Costa FF, Goldman GH, Carvalho AF, Matsukuma A, Baia GS, Simpson DH, Brunstein A, de Oliveira PS, Bucher P, Jongeneel CV, O'Hare MJ, Soares F, Brentani RR, Reis LF, de Souza SJ, Simpson AJ (Mar 2000). "Shotgun sequencing of the human transcriptome with ORF expressed sequence tags". Proceedings of the National Academy of Sciences of the United States of America 97 (7): 3491–6. doi:10.1073/pnas.97.7.3491. PMC 16267. PMID 10737800.
- Han G, Ye M, Zhou H, Jiang X, Feng S, Jiang X, Tian R, Wan D, Zou H, Gu J (Apr 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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