RIT1
Template:PBB GTP-binding protein Rit1 is a protein that in humans is encoded by the RIT1 gene.[1][2][3]
Clinical significance
Mutations in RIT1 are associated to Template:SWL.[4]
Interactions
RIT1 has been shown to interact with KLHL12[5] and Merlin.[6]
References
- ^ Lee CH, Della NG, Chew CE, Zack DJ (Nov 1996). "Rin, a neuron-specific and calmodulin-binding small G-protein, and Rit define a novel subfamily of ras proteins". J Neurosci. 16 (21): 6784–94. PMID 8824319.
{{cite journal}}: CS1 maint: multiple names: authors list (link) - ^ Wes PD, Yu M, Montell C (Jan 1997). "RIC, a calmodulin-binding Ras-like GTPase". EMBO J. 15 (21): 5839–48. PMC 452332. PMID 8918462.
{{cite journal}}: CS1 maint: multiple names: authors list (link) - ^ "Entrez Gene: RIT1 Ras-like without CAAX 1".
- ^ Gos, M; Fahiminiya, S; Poznański, J; Klapecki, J; Obersztyn, E; Piotrowicz, M; Wierzba, J; Posmyk, R; Bal, J; Majewski, J (2014). "Contribution of RIT1 mutations to the pathogenesis of Noonan syndrome: Four new cases and further evidence of heterogeneity". American Journal of Medical Genetics Part A: n/a. doi:10.1002/ajmg.a.36646. PMID 24939608.
- ^ Rondou, Pieter; Haegeman Guy; Vanhoenacker Peter; Van Craenenbroeck Kathleen (Apr 2008). "BTB Protein KLHL12 targets the dopamine D4 receptor for ubiquitination by a Cul3-based E3 ligase". J. Biol. Chem. 283 (17). United States: 11083–96. doi:10.1074/jbc.M708473200. ISSN 0021-9258. PMC 2431063. PMID 18303015.
{{cite journal}}: Cite has empty unknown parameters:|laydate=,|laysource=, and|laysummary=(help)CS1 maint: unflagged free DOI (link) - ^ Huang, J; Chen J (Jul 2008). "VprBP targets Merlin to the Roc1-Cul4A-DDB1 E3 ligase complex for degradation". Oncogene. 27 (29). England: 4056–64. doi:10.1038/onc.2008.44. PMID 18332868.
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Further reading
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