Property Summary

NCBI Gene PubMed Count 26
Grant Count 67
R01 Count 59
Funding $6,075,025.15
PubMed Score 160.29
PubTator Score 32.21

Knowledge Summary

Patent

No data available

Expression

Synonym

Accession Q92963 B4DQE8 O00646 O00720 Q5VY89 Q5VY90
Symbols NS8
RIT
RIBB
ROC1

Gene

PDB

4KLZ  

Gene RIF (17)

PMID Text
26714497 A genotype-phenotype correlation analysis of available records indicated that germline RIT1 mutations cause a noonan syndrome phenotype characterized by a mild facial appearance.
26617739 elevated expression of RIT1 may contribute to the progression of endometrial cancer and thus may serve as a novel prognostic marker and a promising molecular target for the treatment of endometrial cancer.
25124994 Because of the relatively high frequency of mutations in RIT1 among patients with NS and its occurrence in different populations, we suggest that it should be added to the list of genes included in panels for the molecular diagnosis of NS.
24939608 four additional cases of Noonan syndrome with mutations in RIT1, were identified.
24469055 Data identify RIT1 as a driver oncogene in a specific subset of lung adenocarcinomas.
23791108 Five RIT1 alterations identified in children with Noonan syndrome enhanced ELK1 transactivation.
23770287 we highlight recent studies using transgenic and knockout animal models which have begun to elucidate the physiological roles for the Rit subfamily, including emerging roles in the regulation of neuronal morphology and cellular survival signaling
23765226 study demonstrates that RIT1 abnormalities, including activating mutations and locus amplifications, are novel lesions in a subgroup of patients with myeloid neoplasms, particularly frequent in chronic myelomonocytic leukemia
23667514 ROC1 knockdown remarkably inhibited bladder cancer cell growth, arrested cells at the G2 phase of the cell cycle, and induced the p53-dependent cell senescence.
23123784 the present studies identify a critical role for the Rit-p38 MAPK signaling cascade in promoting hippocampal neuron survival following oxidative stress
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AA Sequence

MDSGTRPVGSCCSSPAGLSREYKLVMLGAGGVGKSAMTMQFISHRFPEDHDPTIEDAYKIRIRIDDEPAN      1 - 70
LDILDTAGQAEFTAMRDQYMRAGEGFIICYSITDRRSFHEVREFKQLIYRVRRTDDTPVVLVGNKSDLKQ     71 - 140
LRQVTKEEGLALAREFSCPFFETSAAYRYYIDDVFHALVREIRRKEKEAVLAMEKKSKPKNSVWKRLKSP    141 - 210
FRKKKDSVT                                                                 211 - 219
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Text Mined References (29)

PMID Year Title
26714497 2016 Spectrum of mutations and genotype-phenotype analysis in Noonan syndrome patients with RIT1 mutations.
26617739 2015 Elevated expression of RIT1 correlates with poor prognosis in endometrial cancer.
25959749 2016 Mutations in RIT1 cause Noonan syndrome - additional functional evidence and expanding the clinical phenotype.
25124994 2014 Further evidence of the importance of RIT1 in Noonan syndrome.
24939608 2014 Contribution of RIT1 mutations to the pathogenesis of Noonan syndrome: four new cases and further evidence of heterogeneity.
24469055 2014 Oncogenic RIT1 mutations in lung adenocarcinoma.
23791108 2013 Gain-of-function mutations in RIT1 cause Noonan syndrome, a RAS/MAPK pathway syndrome.
23770287 2013 Rit subfamily small GTPases: regulators in neuronal differentiation and survival.
23765226 2013 Novel recurrent mutations in the RAS-like GTP-binding gene RIT1 in myeloid malignancies.
23667514 2013 Knockdown of regulator of cullins-1 (ROC1) expression induces bladder cancer cell cycle arrest at the G2 phase and senescence.
More...