Citations for
1NIBAN2, RASA1
EGFR phosphorylates FAM129B to promote Ras activation
Ji H, Lee JH, Wang Y, Pang Y, Zhang T, Xia Y, Zhong L, Lyu J, Lu Z.
Proc Natl Acad Sci U S A. Jan 19;113(3):644-9. doi: 10.1073/pnas.1517112113. Epub 2015 Dec 31 2016
2EPHB4, MTOR, RASA1
RASA1 functions in EPHB4 signaling pathway to suppress endothelial mTORC1 activity.
Kawasaki J, Aegerter S, Fevurly RD, Mammoto A, Mammoto T, Sahin M, Mably JD, Fishman SJ, Chan J.
J Clin Invest 124(6):2774-84. doi: 10.1172/JCI67084. Epub 2014 May 16. 2014
3CPLM, RASA1
RASA1 mutations and associated phenotypes in 68 families with capillary malformation-arteriovenous malformation.
Revencu N, Boon LM, Mendola A, Cordisco MR, Dubois J, Clapuyt P, Hammer F, Amor DJ, Irvine AD, Baselga E, Dompmartin A, Syed S, Martin-Santiago A, Ades L, Collins F, Smith J, Sandaradura S, Barrio VR, Burrows PE, Blei F, Cozzolino M, Brunetti-Pierri N, Vicente A, Abramowicz M, Désir J, Vilain C, Chung WK, Wilson A, Gardiner CA, Dwight Y, Lord DJ, Fishman L, Cytrynbaum C, Chamlin S, Ghali F, Gilaberte Y, Joss S, Boente Mdel C, Léauté-Labrèze C, Delrue MA, Bayliss S, Martorell L, González-Enseñat MA, Mazereeuw-Hautier J, O'Donnell B, Bessis D, Pyeritz RE, Salhi A, Tan OT, Wargon O, Mulliken JB, Vikkula M.
Hum Mutat 34(12):1632-41. doi: 10.1002/humu.22431. Epub 2013 Oct 10. 2013
4CPLM, RASA1
A novel RASA1 mutation causing capillary malformation-arteriovenous malformation (CM-AVM) presenting during pregnancy.
Durrington HJ, Firth HV, Patient C, Belham M, Jayne D, Burrows N, Morrell NW, Chilvers ER.
Am J Med Genet A 161A(7):1690-4. doi: 10.1002/ajmg.a.35935. Epub 2013 May 17. 2013
5RASA1
Ras GTPase activating (RasGAP) activity of the dual specificity GAP protein Rasal requires colocalization and C2 domain binding to lipid membranes.
Sot B, Behrmann E, Raunser S, Wittinghofer A.
Proc Natl Acad Sci U S A 110(1):111-6. doi: 10.1073/pnas.1201658110. Epub 2012 Dec 18. 2013
6IFT43, RASA1
The Small GTPase Rsg1 is important for the cytoplasmic localization and axonemal dynamics of intraflagellar transport proteins.
Brooks ER, Wallingford JB.
Cilia Oct 7;2:13. doi: 10.1186/2046-2530-2-13. eCollection 2013. 2013
7KRAS, NS1, PTPN11, RASA1
Noonan syndrome-causing SHP2 mutants inhibit insulin-like growth factor 1 release via growth hormone-induced ERK hyperactivation, which contributes to short stature.
De Rocca Serra-Nédélec A, Edouard T, Tréguer K, Tajan M, Araki T, Dance M, Mus M, Montagner A, Tauber M, Salles JP, Valet P, Neel BG, Raynal P, Yart A.
Proc Natl Acad Sci U S A 109(11):4257-62. doi: 10.1073/pnas.1119803109. Epub 2012 Feb 27. 2012
8CPLM, RASA1
Phenotypic variability in a family with capillary malformations caused by a mutation in the RASA1 gene.
de Wijn RS, Oduber CE, Breugem CC, Alders M, Hennekam RC, van der Horst CM.
Eur J Med Genet 55(3):191-5. doi: 10.1016/j.ejmg.2012.01.009. Epub 2012 Jan 28. 2012
9RASA1
RASA1 maintains the lymphatic vasculature in a quiescent functional state in mice.
Lapinski PE, Kwon S, Lubeck BA, Wilkinson JE, Srinivasan RS, Sevick-Muraca E, King PD.
J Clin Invest 122(2):733-47. doi: 10.1172/JCI46116. Epub 2012 Jan 9. 2012
10CPLM, DEL5Q14, MEF2C, RASA1
5q14.3 neurocutaneous syndrome: a novel contiguous gene syndrome caused by simultaneous deletion of RASA1 and MEF2C.
Carr CW, Zimmerman HH, Martin CL, Vikkula M, Byrd AC, Abdul-Rahman OA.
Am J Med Genet A 155A(7):1640-5. doi: 10.1002/ajmg.a.34059. Epub 2011 May 27. 2011
11RAB21, RASA1
Competitive binding of Rab21 and p120RasGAP to integrins regulates receptor traffic and migration.
Mai A, Veltel S, Pellinen T, Padzik A, Coffey E, Marjomäki V, Ivaska J.
J Cell Biol 194(2):291-306. Epub 2011 Jul 18. 2011
12RASA1
A role for p120 RasGAP in thymocyte positive selection and survival of naive T cells.
Lapinski PE, Qiao Y, Chang CH, King PD.
J Immunol 187(1):151-63. doi: 10.4049/jimmunol.1100178. Epub 2011 Jun 6. 2011
13RASA1
Detection of RASA1 mutations in patients with sporadic Sturge-Weber syndrome.
Zhou Q, Zheng JW, Yang XJ, Wang HJ, Ma D, Qin ZP.
Childs Nerv Syst 27(4):603-7. doi: 10.1007/s00381-010-1258-z. Epub 2010 Sep 7. 2011
14EPHA1, RASA1
EphrinA/EphA signal facilitates insulin-like growth factor-I-induced myogenic differentiation through suppression of the Ras/extracellular signal-regulated kinase 1/2 cascade in myoblast cell lines.
Minami M, Koyama T, Wakayama Y, Fukuhara S, Mochizuki N.
Mol Biol Cell 22(18):3508-19. doi: 10.1091/mbc.E11-03-0183. Epub 2011 Jul 27. 2011
15NCK1, RASA1
Adaptor protein Nck1 interacts with p120 Ras GTPase-activating protein and regulates its activity.
Ger M, Zitkus Z, Valius M.
Cell Signal 23(10):1651-8. doi: 10.1016/j.cellsig.2011.05.019. Epub 2011 Jun 2. 2011
16CPLM, RASA1
A novel association between RASA1 mutations and spinal arteriovenous anomalies.
Thiex R, Mulliken JB, Revencu N, Boon LM, Burrows PE, Cordisco M, Dwight Y, Smith ER, Vikkula M, Orbach DB.
AJNR Am J Neuroradiol 31(4):775-9. doi: 10.3174/ajnr.A1907. Epub 2009 Dec 10. 2010
17ARHGAP35, PTK2, RASA1
A FAK-p120RasGAP-p190RhoGAP complex regulates polarity in migrating cells.
Tomar A, Lim ST, Lim Y, Schlaepfer DD.
J Cell Sci 122(Pt 11):1852-62. Epub 2009 May 12. Erratum in: J Cell Sci. 2009 Aug 15;122(Pt 16):3005. PMID: 1943580 2009
18DLC1, RASA1
p120Ras-GAP binds the DLC1 Rho-GAP tumor suppressor protein and inhibits its RhoA GTPase and growth-suppressing activities.
Yang XY, Guan M, Vigil D, Der CJ, Lowy DR, Popescu NC.
Oncogene 28(11):1401-9. Epub 2009 Jan 19.PMID: 19151751 2009
19CPLM, RASA1
Parkes Weber syndrome, vein of Galen aneurysmal malformation, and other fast-flow vascular anomalies are caused by RASA1 mutations.
Revencu N, Boon LM, Mulliken JB, Enjolras O, Cordisco MR, Burrows PE, Clapuyt P, Hammer F, Dubois J, Baselga E, Brancati F, Carder R, Quintal JM, Dallapiccola B, Fischer G, Frieden IJ, Garzon M, Harper J, Johnson-Patel J, Labrèze C, Martorell L, Paltiel HJ, Pohl A, Prendiville J, Quere I, Siegel DH, Valente EM, Van Hagen A, Van Hest L, Vaux KK, Vicente A, Weibel L, Chitayat D, Vikkula M.
Hum Mutat 29(7):959-65. 2008
20ARHGAP35, PTK6, RASA1
Breast tumor kinase phosphorylates p190RhoGAP to regulate rho and ras and promote breast carcinoma growth, migration, and invasion.
Shen CH, Chen HY, Lin MS, Li FY, Chang CC, Kuo ML, Settleman J, Chen RH.
Cancer Res 68(19):7779-87.PMID: 18829532 2008
21CPLM, RASA1
RASA1 mutations may cause hereditary capillary malformations without arteriovenous malformations.
Hershkovitz D, Bercovich D, Sprecher E, Lapidot M.
Br J Dermatol 158(5):1035-40. Epub 2008 Mar 20.PMID: 18363760 2008
22CPLM, RASA1
A novel mutation in RASA1 causes capillary malformation and limb enlargement.
Hershkovitz D, Bergman R, Sprecher E.
Arch Dermatol Res 300(7):385-8. Epub 2008 Mar 8. 2008
23ARHGAP35, RASA1
Integrin signaling through Arg activates p190RhoGAP by promoting its binding to p120RasGAP and recruitment to the membrane.
Bradley WD, Hernández SE, Settleman J, Koleske AJ.
Mol Biol Cell 17(11):4827-36. Epub 2006 Sep 13.PMID: 16971514 2006
24RASA1, CPLM, NFFM
RASA1: variable phenotype with capillary and arteriovenous malformations.
Boon LM, Mulliken JB, Vikkula M.
Curr Opin Genet Dev 15(3):265-9. Review. 2005
25RASA1, DAB2IP
Identification of a novel RAS GTPase-activating protein (RASGAP) gene at 9q34 as an MLL fusion partner in a patient with de novo acute myeloid leukemia.
von Bergh AR, Wijers PM, Groot AJ, van Zelderen-Bhola S, Falkenburg JH, Kluin PM, Schuuring E.
Genes Chromosomes Cancer 39(4):324-34. 2004
26CPLM, RASA1, NFFM
Capillary malformation-arteriovenous malformation, a new clinical and genetic disorder caused by RASA1 mutations.
Eerola I, Boon LM, Mulliken JB, Burrows PE, Dompmartin A, Watanabe S, Vanwijck R, Vikkula M.
Am J Hum Genet 73(6):1240-9. Epub 2003 Nov 24. 2003
27CPLM, RASA1, NFFM
Autosomal dominant hereditary benign telangiectasia maps to the CMC1 locus for capillary malformation on chromosome 5q14.
Brancati F, Valente EM, Tadini G, Caputo V, Di Benedetto A, Gelmetti C, Dallapiccola B.
J Med Genet 40(11):849-53. No abstract available. 2003
28RASA1
Organization and regulation of the human rasGAP gene.
Glanzer JG, Liao L, Baker T, McMullen MH, Langan AS, Crandall LZ, Vorce RL.
Gene 285(1-2):149-56. 2002
29RACK1, RASA1
RACK1, a protein kinase C scaffolding protein, interacts with the PH domain of p120GAP.
Koehler JA, Moran MF.
Biochem Biophys Res Commun 283(4):888-95. 2001
30RASA1, RASA2
Use of an alternate splice donor site in the human GAP gene is responsible for synthesis of the p100 isoform.
Liao L, et al.
Gene 184 : 39-43. 1997
31RASA1
Nonsense mutations in the C-terminal SH2 region of the GTPase activating protein (GAP) gene in human tumours.
Friedman E, et al.
Nat Genet 5 : 242-247. 1993
32RASA1
Chromosomal localization of the gene encoding GTPase-activating protein (RASA) to human chromosome 5, bands q13-q15.
Lemons RS, et al.
Genomics 6 : 383-385. 1990
33RASA1
The gene for GTPase activating protein (GAP) is on human chromosome 5q and mouse chromosome 13.
Hsieh CL, et al.
(HGM10) Cytogenet Cell Genet 51 : 1016. 1989
34RASA1
Chromosome localization and cDNA sequence of murine and human genes for ras p21 GTPase activating protein (GAP).
Hsieh CL, Vogel US, Dixon RA, Francke U.
Somat Cell Mol Genet 15 : 579-590. 1989