“RNF213”的意思、由来-开放百科全书

Ring finger protein 213 is a protein that in humans is encoded by the RNF213 gene.^[1] RNF213 is a 591kDa cytosolic E3 Ubiquitin-ligase with RING finger and AAA+ ATPase domains.

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 (reference needed).

References

1. ^{{cite web | title = Entrez Gene: ring finger protein 213| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=57674| accessdate = }}
2. ^{{cite journal | vauthors = 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 | title = A genome-wide association study identifies RNF213 as the first Moyamoya disease gene | journal = Journal of Human Genetics | volume = 56 | issue = 1 | pages = 34–40 | date = Jan 2011 | pmid = 21048783 | doi = 10.1038/jhg.2010.132 }}

Further reading

{{cite journal | vauthors = Choudhary C, Kumar C, Gnad F, Nielsen ML, Rehman M, Walther TC, Olsen JV, Mann M | title = Lysine acetylation targets protein complexes and co-regulates major cellular functions | journal = Science | volume = 325 | issue = 5942 | pages = 834–40 | date = Aug 2009 | pmid = 19608861 | doi = 10.1126/science.1175371 }}

{{cite journal | vauthors = Gautier VW, Gu L, O'Donoghue N, Pennington S, Sheehy N, Hall WW | title = In vitro nuclear interactome of the HIV-1 Tat protein | journal = Retrovirology | volume = 6 | issue = | pages = 47 | year = 2009 | pmid = 19454010 | pmc = 2702331 | doi = 10.1186/1742-4690-6-47 }}

{{cite journal | vauthors = Cools J, Wlodarska I, Somers R, Mentens N, Pedeutour F, Maes B, De Wolf-Peeters C, Pauwels P, Hagemeijer A, Marynen P | title = Identification of novel fusion partners of ALK, the anaplastic lymphoma kinase, in anaplastic large-cell lymphoma and inflammatory myofibroblastic tumor | journal = Genes, Chromosomes & Cancer | volume = 34 | issue = 4 | pages = 354–62 | date = Aug 2002 | pmid = 12112524 | doi = 10.1002/gcc.10033 }}

{{cite journal | vauthors = Imami K, Sugiyama N, Kyono Y, Tomita M, Ishihama Y | title = Automated phosphoproteome analysis for cultured cancer cells by two-dimensional nanoLC-MS using a calcined titania/C18 biphasic column | journal = Analytical Sciences | volume = 24 | issue = 1 | pages = 161–6 | date = Jan 2008 | pmid = 18187866 | doi = 10.2116/analsci.24.161 }}

{{cite journal | vauthors = Dephoure N, Zhou C, Villén J, Beausoleil SA, Bakalarski CE, Elledge SJ, Gygi SP | title = A quantitative atlas of mitotic phosphorylation | journal = Proceedings of the National Academy of Sciences of the United States of America | volume = 105 | issue = 31 | pages = 10762–7 | date = Aug 2008 | pmid = 18669648 | pmc = 2504835 | doi = 10.1073/pnas.0805139105 }}

{{cite journal | vauthors = 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 | title = Shotgun sequencing of the human transcriptome with ORF expressed sequence tags | journal = Proceedings of the National Academy of Sciences of the United States of America | volume = 97 | issue = 7 | pages = 3491–6 | date = Mar 2000 | pmid = 10737800 | pmc = 16267 | doi = 10.1073/pnas.97.7.3491 }}

{{cite journal | vauthors = Han G, Ye M, Zhou H, Jiang X, Feng S, Jiang X, Tian R, Wan D, Zou H, Gu J | title = Large-scale phosphoproteome analysis of human liver tissue by enrichment and fractionation of phosphopeptides with strong anion exchange chromatography | journal = Proteomics | volume = 8 | issue = 7 | pages = 1346–61 | date = Apr 2008 | pmid = 18318008 | doi = 10.1002/pmic.200700884 }}

1 : RING finger proteins