RNF213

RNF213
Identifiers
Aliases	RNF213, ALO17, C17orf27, KIAA1618, MYMY2, MYSTR, NET57, ring finger protein 213
External IDs	MGI: 1289196 HomoloGene: 45439 GeneCards: RNF213
Gene location (Human)
Chr.	Chromosome 17 (human)[1]
End	80,398,786 bp[1]
Gene location (Mouse)
Chr.	Chromosome 11 (mouse)[2]
End	119,487,418 bp[2]
Gene ontology
Molecular function	• protein binding; • metal ion binding; • hydrolase activity; • ATPase activity; • ubiquitin-protein transferase activity; • transferase activity;
Cellular component	• nucleolus; • membrane; • cytoplasm; • cytosol;
Biological process	• ubiquitin-dependent protein catabolic process; • negative regulation of non-canonical Wnt signaling pathway; • angiogenesis; • sprouting angiogenesis; • protein homooligomerization; • protein autoubiquitination; • protein ubiquitination; • protein polyubiquitination;
	Sources:Amigo / QuickGO
Orthologs
	57674
	672511
	ENSG00000173821
	ENSMUSG00000070327
	Q63HN8
	n/a
	NM_001256071; NM_020914; NM_020954
	NM_001040005
	NP_001243000; NP_066005
	n/a
	Wikidata
View/Edit Human	View/Edit Mouse

Ring finger protein 213 is a protein that in humans is encoded by the RNF213 gene.^[5] 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.^[6] 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 2 3 GRCh38: Ensembl release 89: ENSG00000173821 - Ensembl, May 2017
1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000070327 - Ensembl, May 2017
↑ "Human PubMed Reference:".
↑ "Mouse PubMed Reference:".
↑ "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.

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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[refGRCh38Ensembl-1] 1 2 3 GRCh38: Ensembl release 89: ENSG00000173821 - Ensembl, May 2017

[refGRCm38Ensembl-2] 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000070327 - Ensembl, May 2017

[3] "Human PubMed Reference:".

[4] "Mouse PubMed Reference:".

[entrez-5] "Entrez Gene: ring finger protein 213".

[pmid21048783-6] 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.

RNF213

Clinical relevance

References

Further reading