RIT1

Ras-like without CAAX 1
Available structures
PDB Ortholog search: PDBe, RCSB
Identifiers
Symbols RIT1 ; NS8; RIBB; RIT; ROC1
External IDs OMIM: 609591 MGI: 108053 HomoloGene: 56003 GeneCards: RIT1 Gene
RNA expression pattern
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

  1. 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.
  2. 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.
  3. 1 2 "Entrez Gene: RIT1 Ras-like without CAAX 1".
  4. 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.
  5. 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.
  6. 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


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