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RIT1

Introduction

GTP-binding protein Rit1 is a protein that in humans is encoded by the RIT1 gene.[1][2][3]

Function

Function

RIT belongs to the RAS (HRAS; MIM 190020) subfamily of small GTPases (Hynds et al., 2003).[supplied by OMIM][3]

Clinical significance

Clinical significance

Mutations in RIT1 are associated to Noonan syndrome .[4]

Interactions

Interactions

RIT1 has been shown to interact with KLHL12[5] and Merlin.[6]

References

References

  1. ↑ Lee CH, Della NG, Chew CE, Zack DJ (November 1996). “Rin, a neuron-specific and calmodulin-binding small G-protein, and Rit define a novel subfamily of ras proteins”. The Journal of Neuroscience. 16 (21): 6784–94. PMIDΒ 8824319.
  2. ↑ Wes PD, Yu M, Montell C (November 1996). “RIC, a calmodulin-binding Ras-like GTPase”. The EMBO Journal. 15 (21): 5839–48. PMCΒ 452332. PMIDΒ 8918462.
  3. ↑ 3.0 3.1 “Entrez Gene: RIT1 Ras-like without CAAX 1”.
  4. ↑ Gos M, Fahiminiya S, PoznaΕ„ski J, Klapecki J, Obersztyn E, Piotrowicz M, Wierzba J, Posmyk R, Bal J, Majewski J (September 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. 164A (9): 2310–6. doi:10.1002/ajmg.a.36646. PMIDΒ 24939608.
  5. ↑ Rondou P, Haegeman G, Vanhoenacker P, Van Craenenbroeck K (April 2008). “BTB Protein KLHL12 targets the dopamine D4 receptor for ubiquitination by a Cul3-based E3 ligase”. The Journal of Biological Chemistry. 283 (17): 11083–96. doi:10.1074/jbc.M708473200. PMCΒ 2431063. PMIDΒ 18303015.
  6. ↑ Huang J, Chen J (July 2008). “VprBP targets Merlin to the Roc1-Cul4A-DDB1 E3 ligase complex for degradation”. Oncogene. 27 (29): 4056–64. doi:10.1038/onc.2008.44. PMIDΒ 18332868.
Further reading

Further reading