View source for RNF213

{{Short description|Protein-coding gene in the species Homo sapiens}}
{{Infobox_gene}}
'''Ring finger protein 213''' is a [[protein]] that in humans is encoded by the ''RNF213'' [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: ring finger protein 213| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=57674}}</ref> RNF213 is a 591kDa cytosolic [[E3 ubiquitin ligase]] with [[RING finger domain|RING finger]] and [[AAA+]] ATPase domains.
==Clinical relevance==
Chromosome-wide linkage analysis found that moyamoya disease locus resides in chromosome 17q25.<ref name=pmid10754001>{{cite journal | vauthors = Yamauchi T, Tada M, Houkin K, Tanaka T, Nakamura Y, Kuroda S, Abe H, Inoue T, Ikezaki K, Matsushima T, Fukui M | display-authors = 6 | title = Linkage of familial moyamoya disease (spontaneous occlusion of the circle of Willis) to chromosome 17q25 | journal = Stroke | volume = 31 | issue = 4 | pages = 930–5 | date = April 2000 | pmid = 10754001 | doi = 10.1161/01.str.31.4.930 | doi-access = free }}</ref> Genome-wide linkage analysis of 15 Japanese families of autosomal dominant moyamoya disease narrowed down the locus to 17q25.3.<ref name=pmid18463369>{{cite journal | vauthors = Mineharu Y, Liu W, Inoue K, Matsuura N, Inoue S, Takenaka K, Ikeda H, Houkin K, Takagi Y, Kikuta K, Nozaki K, Hashimoto N, Koizumi A | display-authors = 6 | title = Autosomal dominant moyamoya disease maps to chromosome 17q25.3 | journal = Neurology | volume = 70 | issue = 24 Pt 2 | pages = 2357–63 | date = June 2008 | pmid = 18463369 | doi = 10.1212/01.wnl.0000291012.49986.f9 | hdl = 2433/135797 | s2cid = 1766812 | hdl-access = free }}</ref> Direct sequencing of the region and whole-exome sequencing identified the p.Arg4810Lys mutation in ''RNF213'' gene as a founder mutation of [[moyamoya disease]].<ref name=pmid21799892>{{cite journal | vauthors = Liu W, Morito D, Takashima S, Mineharu Y, Kobayashi H, Hitomi T, Hashikata H, Matsuura N, Yamazaki S, Toyoda A, Kikuta K, Takagi Y, Harada KH, Fujiyama A, Herzig R, Krischek B, Zou L, Kim JE, Kitakaze M, Miyamoto S, Nagata K, Hashimoto N, Koizumi A | display-authors = 6 | title = Identification of RNF213 as a susceptibility gene for moyamoya disease and its possible role in vascular development | journal = PLOS ONE | volume = 6 | issue = 7 | pages = e22542 | date = Jul 2011 | pmid = 21799892 | doi = 10.1371/journal.pone.0022542 | pmc = 3140517 | bibcode = 2011PLoSO...622542L | doi-access = free }}</ref> A genome-wide association study also identified ''RNF213'' as a disease causing gene for [[Moyamoya disease]].<ref name=pmid21048783>{{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 | display-authors = 6 | 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 = January 2011 | pmid = 21048783 | doi = 10.1038/jhg.2010.132 | doi-access = free }}</ref> Comparative evolutionary genome sequencing analyses in humans and monkeys showed that the strongest evidence for acceleration along the branch leading to hominines was RNF213.<ref name = "Scally_2012">{{cite journal | vauthors = Scally A, Dutheil JY, Hillier LW, Jordan GE, Goodhead I, Herrero J, Hobolth A, Lappalainen T, Mailund T, Marques-Bonet T, McCarthy S, Montgomery SH, Schwalie PC, Tang YA, Ward MC, Xue Y, Yngvadottir B, Alkan C, Andersen LN, Ayub Q, Ball EV, Beal K, Bradley BJ, Chen Y, Clee CM, Fitzgerald S, Graves TA, Gu Y, Heath P, Heger A, Karakoc E, Kolb-Kokocinski A, Laird GK, Lunter G, Meader S, Mort M, Mullikin JC, Munch K, O'Connor TD, Phillips AD, Prado-Martinez J, Rogers AS, Sajjadian S, Schmidt D, Shaw K, Simpson JT, Stenson PD, Turner DJ, Vigilant L, Vilella AJ, Whitener W, Zhu B, Cooper DN, de Jong P, Dermitzakis ET, Eichler EE, Flicek P, Goldman N, Mundy NI, Ning Z, Odom DT, Ponting CP, Quail MA, Ryder OA, Searle SM, Warren WC, Wilson RK, Schierup MH, Rogers J, Tyler-Smith C, Durbin R | display-authors = 6 | title = Insights into hominid evolution from the gorilla genome sequence | journal = Nature | volume = 483 | issue = 7388 | pages = 169–75 | date = March 2012 | pmid = 22398555 | pmc = 3303130 | doi = 10.1038/nature10842 | bibcode = 2012Natur.483..169S }}</ref> RNF213 has been shown to be associated with blood flow and oxygen consumption.<ref name=pmid27323329>{{cite journal | vauthors = Banh RS, Iorio C, Marcotte R, Xu Y, Cojocari D, Rahman AA, Pawling J, Zhang W, Sinha A, Rose CM, Isasa M, Zhang S, Wu R, Virtanen C, Hitomi T, Habu T, Sidhu SS, Koizumi A, Wilkins SE, Kislinger T, Gygi SP, Schofield CJ, Dennis JW, Wouters BG, Neel BG | display-authors = 6 | title = PTP1B controls non-mitochondrial oxygen consumption by regulating RNF213 to promote tumour survival during hypoxia | journal = Nature Cell Biology | volume = 18 | issue = 7 | pages = 803–813 | date = July 2016 | pmid = 27323329 | doi = 10.1038/ncb3376 | pmc = 4936519 }}</ref><ref name=pmid29718794>{{cite journal | vauthors = Kobayashi H, Kabata R, Kinoshita H, Morimoto T, Ono K, Takeda M, Choi J, Okuda H, Liu W, Harada KH, Kimura T, Youssefian S, Koizumi A | display-authors = 6 | title = Rare variants in RNF213, a susceptibility gene for moyamoya disease, are found in patients with pulmonary hypertension and aggravate hypoxia-induced pulmonary hypertension in mice | journal = Pulmonary Circulation | volume = 8 | issue = 3 | pages = 2045894018778155 | date = May 2018 | pmid = 29718794 | doi = 10.1177/2045894018778155 | pmc = 5991195 }}</ref><ref name=pmid29483617>{{cite journal | vauthors = Morimoto T, Enmi JI, Hattori Y, Iguchi S, Saito S, Harada KH, Okuda H, Mineharu Y, Takagi Y, Youssefian S, Iida H, Miyamoto S, Ihara M, Kobayashi H, Koizumi A | display-authors = 6 | title = Dysregulation of RNF213 promotes cerebral hypoperfusion | journal = Scientific Reports | volume = 8 | issue = 1 | pages = 3607 | date = February 2018 | pmid = 29483617 | pmc = 5827518 | doi = 10.1038/s41598-018-22064-8 | bibcode = 2018NatSR...8.3607M }}</ref> 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.<ref name = "Scally_2012" />
== References ==
{{Reflist}}
== Further reading ==
{{refbegin | 2}}
* {{cite journal | vauthors = Choudhary C, Kumar C, Gnad F, Nielsen ML, Rehman M, Walther TC, Olsen JV, Mann M | display-authors = 6 | title = Lysine acetylation targets protein complexes and co-regulates major cellular functions | journal = Science | volume = 325 | issue = 5942 | pages = 834–40 | date = August 2009 | pmid = 19608861 | doi = 10.1126/science.1175371 | bibcode = 2009Sci...325..834C | s2cid = 206520776 | doi-access = free }}
* {{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 | pages = 47 | date = May 2009 | pmid = 19454010 | pmc = 2702331 | doi = 10.1186/1742-4690-6-47 | doi-access = free }}
* {{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 | display-authors = 6 | 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 = August 2002 | pmid = 12112524 | doi = 10.1002/gcc.10033 | s2cid = 22808049 }}
* {{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 = January 2008 | pmid = 18187866 | doi = 10.2116/analsci.24.161 | doi-access = free }}
* {{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 = August 2008 | pmid = 18669648 | pmc = 2504835 | doi = 10.1073/pnas.0805139105 | bibcode = 2008PNAS..10510762D | doi-access = free }}
* {{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 | display-authors = 6 | 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 = March 2000 | pmid = 10737800 | pmc = 16267 | doi = 10.1073/pnas.97.7.3491 | bibcode = 2000PNAS...97.3491D | doi-access = free }}
* {{cite journal | vauthors = Han G, Ye M, Zhou H, Jiang X, Feng S, Jiang X, Tian R, Wan D, Zou H, Gu J | display-authors = 6 | 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 = April 2008 | pmid = 18318008 | doi = 10.1002/pmic.200700884 | doi-access = free }}
{{refend}}
[[Category:RING finger proteins]]
{{gene-17-stub}}