Biology:RNF213
 Generic protein structure example |
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
Chromosome-wide linkage analysis found that moyamoya disease locus resides in chromosome 17q25.[2] Genome-wide linkage analysis of 15 Japanese families of autosomal dominant moyamoya disease narrowed down the locus to 17q25.3.[3] Direct sequencing of the region and whole-exome sequencing identified the p.Arg4810Lys mutation in RNF213 gene as a founder mutation of moyamoya disease.[4] A genome-wide association study also identified RNF213 as a disease causing gene for Moyamoya disease.[5] Comparative evolutionary genome sequencing analyses in humans and monkeys showed that the strongest evidence for acceleration along the branch leading to hominines was RNF213.[6] RNF213 has been shown to be associated with blood flow and oxygen consumption.[7][8][9] 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.[6]
References
- ↑ "Entrez Gene: ring finger protein 213". https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=57674.
- ↑ "Linkage of familial moyamoya disease (spontaneous occlusion of the circle of Willis) to chromosome 17q25". Stroke 31 (4): 930–5. April 2000. doi:10.1161/01.str.31.4.930. PMID 10754001.
- ↑ "Autosomal dominant moyamoya disease maps to chromosome 17q25.3". Neurology 70 (24 Pt 2): 2357–63. June 2008. doi:10.1212/01.wnl.0000291012.49986.f9. PMID 18463369.
- ↑ "Identification of RNF213 as a susceptibility gene for moyamoya disease and its possible role in vascular development". PLOS ONE 6 (7): e22542. Jul 2011. doi:10.1371/journal.pone.0022542. PMID 21799892. Bibcode: 2011PLoSO...622542L.
- ↑ "A genome-wide association study identifies RNF213 as the first Moyamoya disease gene". Journal of Human Genetics 56 (1): 34–40. January 2011. doi:10.1038/jhg.2010.132. PMID 21048783.
- ↑ 6.0 6.1 "Insights into hominid evolution from the gorilla genome sequence". Nature 483 (7388): 169–75. March 2012. doi:10.1038/nature10842. PMID 22398555. Bibcode: 2012Natur.483..169S.
- ↑ "PTP1B controls non-mitochondrial oxygen consumption by regulating RNF213 to promote tumour survival during hypoxia". Nature Cell Biology 18 (7): 803–813. July 2016. doi:10.1038/ncb3376. PMID 27323329.
- ↑ "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". Pulmonary Circulation 8 (3): 2045894018778155. May 2018. doi:10.1177/2045894018778155. PMID 29718794.
- ↑ "Dysregulation of RNF213 promotes cerebral hypoperfusion". Scientific Reports 8 (1): 3607. February 2018. doi:10.1038/s41598-018-22064-8. PMID 29483617. Bibcode: 2018NatSR...8.3607M.
Further reading
- "Lysine acetylation targets protein complexes and co-regulates major cellular functions". Science 325 (5942): 834–40. August 2009. doi:10.1126/science.1175371. PMID 19608861. Bibcode: 2009Sci...325..834C.
- "In vitro nuclear interactome of the HIV-1 Tat protein". Retrovirology 6: 47. May 2009. doi:10.1186/1742-4690-6-47. PMID 19454010.
- "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. August 2002. doi:10.1002/gcc.10033. PMID 12112524.
- "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. January 2008. doi:10.2116/analsci.24.161. PMID 18187866.
- "A quantitative atlas of mitotic phosphorylation". Proceedings of the National Academy of Sciences of the United States of America 105 (31): 10762–7. August 2008. doi:10.1073/pnas.0805139105. PMID 18669648. Bibcode: 2008PNAS..10510762D.
- "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. March 2000. doi:10.1073/pnas.97.7.3491. PMID 10737800. Bibcode: 2000PNAS...97.3491D.
- "Large-scale phosphoproteome analysis of human liver tissue by enrichment and fractionation of phosphopeptides with strong anion exchange chromatography". Proteomics 8 (7): 1346–61. April 2008. doi:10.1002/pmic.200700884. PMID 18318008.
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