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RIT1

From Wikipedia, the free encyclopedia
RIT1
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesRIT1, NS8, RIBB, RIT, ROC1, Ras like without CAAX 1
External IDsOMIM: 609591; MGI: 108053; HomoloGene: 56003; GeneCards: RIT1; OMA:RIT1 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_006912
NM_001256820
NM_001256821

NM_001163310
NM_009069

RefSeq (protein)

NP_001243749
NP_001243750
NP_008843

Location (UCSC)Chr 1: 155.9 – 155.91 MbChr 3: 88.62 – 88.64 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

GTP-binding protein Rit1 is a protein that in humans is encoded by the RIT1 gene.[5][6][7]

Function

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RIT belongs to the RAS (HRAS; MIM 190020) subfamily of small GTPases (Hynds et al., 2003).[supplied by OMIM][7]

Clinical significance

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Mutations in RIT1 are associated to Noonan syndrome.[8]

Interactions

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RIT1 has been shown to interact with KLHL12[9] and Merlin.[10]

References

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000143622Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000028057Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ 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. doi:10.1523/JNEUROSCI.16-21-06784.1996. PMC 6579259. PMID 8824319.
  6. ^ Wes PD, Yu M, Montell C (November 1996). "RIC, a calmodulin-binding Ras-like GTPase". The EMBO Journal. 15 (21): 5839–48. doi:10.1002/j.1460-2075.1996.tb00971.x. PMC 452332. PMID 8918462.
  7. ^ a b "Entrez Gene: RIT1 Ras-like without CAAX 1".
  8. ^ 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. S2CID 2005508.
  9. ^ 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 2431063. PMID 18303015.
  10. ^ 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

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