RIT1
| Ras-like without CAAX 1 | |||||||||||||
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| Identifiers | |||||||||||||
| Symbols | RIT1 ; NS8; RIBB; RIT; ROC1 | ||||||||||||
| External IDs | OMIM: 609591 MGI: 108053 HomoloGene: 56003 GeneCards: RIT1 Gene | ||||||||||||
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| RNA expression pattern | |||||||||||||
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| More reference expression data | |||||||||||||
| Orthologs | |||||||||||||
| Species | Human | Mouse | |||||||||||
| Entrez | 6016 | 19769 | |||||||||||
| Ensembl | ENSG00000143622 | ENSMUSG00000028057 | |||||||||||
| UniProt | Q92963 | P70426 | |||||||||||
| RefSeq (mRNA) | NM_001256820 | NM_001163310 | |||||||||||
| RefSeq (protein) | NP_001243749 | NP_001156782 | |||||||||||
| Location (UCSC) |
Chr 1: 155.9 – 155.91 Mb |
Chr 3: 88.72 – 88.73 Mb | |||||||||||
| PubMed search | |||||||||||||
GTP-binding protein Rit1 is a protein that in humans is encoded by the RIT1 gene.[1][2][3]
RIT belongs to the RAS (HRAS; MIM 190020) subfamily of small GTPases (Hynds et al., 2003).[supplied by OMIM][3]
Clinical significance
Mutations in RIT1 are associated to Noonan syndrome .[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.
- ↑ 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.
- 1 2 "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. (United States) 283 (17): 11083–96. doi:10.1074/jbc.M708473200. ISSN 0021-9258. PMC 2431063. PMID 18303015.
- ↑ Huang, J; Chen J (Jul 2008). "VprBP targets Merlin to the Roc1-Cul4A-DDB1 E3 ligase complex for degradation". Oncogene (England) 27 (29): 4056–64. doi:10.1038/onc.2008.44. PMID 18332868.
Further reading
- Shao H, Kadono-Okuda K, Finlin BS, Andres DA (1999). "Biochemical characterization of the Ras-related GTPases Rit and Rin.". Arch. Biochem. Biophys. 371 (2): 207–19. doi:10.1006/abbi.1999.1448. PMID 10545207.
- Shao H, Andres DA (2000). "A novel RalGEF-like protein, RGL3, as a candidate effector for rit and Ras.". J. Biol. Chem. 275 (35): 26914–24. doi:10.1074/jbc.M002241200. PMID 10869344.
- Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
- Hynds DL, Spencer ML, Andres DA, Snow DM (2004). "Rit promotes MEK-independent neurite branching in human neuroblastoma cells.". J. Cell. Sci. 116 (Pt 10): 1925–35. doi:10.1242/jcs.00401. PMID 12668729.
- Li JT, Liu W, Kuang ZH, et al. (2004). "[Mutation and amplification of RIT1 gene in hepatocellular carcinoma]". Zhonghua Yi Xue Yi Chuan Xue Za Zhi 21 (1): 43–6. PMID 14767908.
- Shi GX, Andres DA (2005). "Rit contributes to nerve growth factor-induced neuronal differentiation via activation of B-Raf-extracellular signal-regulated kinase and p38 mitogen-activated protein kinase cascades.". Mol. Cell. Biol. 25 (2): 830–46. doi:10.1128/MCB.25.2.830-846.2005. PMC 543422. PMID 15632082.
- Barrios-Rodiles M, Brown KR, Ozdamar B, et al. (2005). "High-throughput mapping of a dynamic signaling network in mammalian cells.". Science 307 (5715): 1621–5. doi:10.1126/science.1105776. PMID 15761153.
- Benmaamar R, Pagano M (2006). "Involvement of the SCF complex in the control of Cdh1 degradation in S-phase.". Cell Cycle 4 (9): 1230–2. doi:10.4161/cc.4.9.2048. PMID 16123585.
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