RIT1

RIT1
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 4KLZ
Identifiers
Aliases	RIT1 , NS8, RIBB, RIT, ROC1, Ras like without CAAX 1
External IDs	OMIM: 609591; MGI: 108053; HomoloGene: 56003; GeneCards: RIT1; OMA:RIT1 - orthologs
Gene location (Human) Chr. Chromosome 1 (human) [1] Band 1q22 Start 155,897,808 bp [1] End 155,911,404 bp [1]
Gene location (Mouse) Chr. Chromosome 3 (mouse) [2] Band 3|3 F1 Start 88,624,145 bp [2] End 88,638,356 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in monocyte amniotic fluid Achilles tendon stromal cell of endometrium islet of Langerhans blood ventricular zone vagina palpebral conjunctiva granulocyte Top expressed in granulocyte saccule stroma of bone marrow seminal vesicula lip ectoderm otic vesicle esophagus lacrimal gland otic placode More reference expression data BioGPS More reference expression data
Gene ontology Molecular function nucleotide binding protein binding calmodulin binding GTP binding GTPase activity GDP binding Cellular component membrane plasma membrane intracellular anatomical structure Biological process Ras protein signal transduction signal transduction Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 6016 19769 Ensembl ENSG00000143622 ENSMUSG00000028057 UniProt Q92963 P70426 RefSeq (mRNA) NM_006912 NM_001256820 NM_001256821 NM_001163310 NM_009069 RefSeq (protein) NP_001243749 NP_001243750 NP_008843 NP_001156782 NP_033095 NP_001390950 NP_001390951 NP_001390958 NP_001390959 NP_001390960 NP_001390962 NP_001390963 NP_001390964 NP_001390965 Location (UCSC) Chr 1: 155.9 – 155.91 Mb Chr 3: 88.62 – 88.64 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

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

Function

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

Clinical significance

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

Interactions

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

References

1. GRCh38: Ensembl release 89: ENSG00000143622 – Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000028057 – Ensembl, 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. "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

• Shao H, Kadono-Okuda K, Finlin BS, Andres DA (November 1999). "Biochemical characterization of the Ras-related GTPases Rit and Rin". Archives of Biochemistry and Biophysics. 371 (2): 207–19. doi:10.1006/abbi.1999.1448. PMID   10545207.
• Shao H, Andres DA (September 2000). "A novel RalGEF-like protein, RGL3, as a candidate effector for rit and Ras". The Journal of Biological Chemistry. 275 (35): 26914–24. doi: 10.1074/jbc.M002241200 . PMID   10869344.
• Hynds DL, Spencer ML, Andres DA, Snow DM (May 2003). "Rit promotes MEK-independent neurite branching in human neuroblastoma cells". Journal of Cell Science. 116 (Pt 10): 1925–35. doi: 10.1242/jcs.00401 . PMID   12668729.
• Li JT, Liu W, Kuang ZH, Zhang RH, Chen HK, Feng QS (February 2004). "[Mutation and amplification of RIT1 gene in hepatocellular carcinoma]". Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics. 21 (1): 43–6. PMID   14767908.
• Shi GX, Andres DA (January 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". Molecular and Cellular Biology. 25 (2): 830–46. doi:10.1128/MCB.25.2.830-846.2005. PMC   543422 . PMID   15632082.
• Barrios-Rodiles M, Brown KR, Ozdamar B, Bose R, Liu Z, Donovan RS, Shinjo F, Liu Y, Dembowy J, Taylor IW, Luga V, Przulj N, Robinson M, Suzuki H, Hayashizaki Y, Jurisica I, Wrana JL (March 2005). "High-throughput mapping of a dynamic signaling network in mammalian cells". Science. 307 (5715): 1621–5. Bibcode:2005Sci...307.1621B. doi:10.1126/science.1105776. PMID   15761153. S2CID   39457788.
• Benmaamar R, Pagano M (September 2005). "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.