RIT1

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RIT1
Available structures
PDB Ortholog search: PDBe RCSB
Identifiers
Aliases RIT1, NS8, RIBB, RIT, ROC1, Ras like without CAAX 1
External IDs MGI: 108053 HomoloGene: 56003 GeneCards: RIT1
RNA expression pattern
PBB GE RIT1 209882 at fs.png
More reference expression data
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_006912
NM_001256820
NM_001256821

NM_001163310
NM_009069

RefSeq (protein)

NP_001243749
NP_001243750
NP_008843

NP_033095.1
NP_001156782
NP_033095

Location (UCSC) Chr 1: 155.9 – 155.91 Mb Chr 3: 88.72 – 88.73 Mb
PubMed search [1] [2]
Wikidata
View/Edit Human View/Edit Mouse

GTP-binding protein Rit1 is a protein that in humans is encoded by the RIT1 gene.[3][4][5]

Function[edit]

RIT belongs to the RAS (HRAS; MIM 190020) subfamily of small GTPases (Hynds et al., 2003).[supplied by OMIM][5]

Clinical significance[edit]

Mutations in RIT1 are associated to Noonan syndrome .[6]

Interactions[edit]

RIT1 has been shown to interact with KLHL12[7] and Merlin.[8]

References[edit]

  1. ^ "Human PubMed Reference:". 
  2. ^ "Mouse PubMed Reference:". 
  3. ^ 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. PMID 8824319. 
  4. ^ Wes PD, Yu M, Montell C (November 1996). "RIC, a calmodulin-binding Ras-like GTPase". The EMBO Journal. 15 (21): 5839–48. PMC 452332Freely accessible. PMID 8918462. 
  5. ^ a b "Entrez Gene: RIT1 Ras-like without CAAX 1". 
  6. ^ Gos M, Fahiminiya S, Poznański 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. PMID 24939608. 
  7. ^ 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. PMC 2431063Freely accessible. PMID 18303015. 
  8. ^ 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. PMID 18332868. 

Further reading[edit]