Recombinant Human Ras GTPase-activating protein 1 (RASA1), partial

1. A somatic RASA1 mutation in addition to the germline RASA1 mutation, was detected within endothelial cells in capillary malformation-arteriovenous malformation. PMID: 29024832
2. RASA1 variants are rarely found in children with sporadic capillary malformations of lower limbs without capillary malformation-arteriovenous malformation syndrome. PMID: 29110021
3. RASA1 mutations are associated melanoma tumorigenesis. PMID: 26993606
4. MicroRNA-21 reduces RASA1 expression in cervical cancer cell lines and promotes cervical cancer cell migration via RASA1. Furthermore, Ras-induced epithelial-mesenchymal transition contributes to miR-21/RASA1 axis promoting cervical cancer cell migration. PMID: 27101583
5. These results and the extreme variable expressivity support the hypothesis that somatic "second hits" are required for the development of vascular anomalies associated with CM-AVM syndrome. In addition, the phenotypes of the affected individuals further clarify that lymphatic manifestations are also part of the phenotypic spectrum of RASA1-related disorders. PMID: 26969842
6. results indicate that, mTOR, Bad, or Survivin are not required for p120 RasGAP fragment N to protect cells from cell death; conclude that downstream targets of Akt other than mTORC1, Bad, or survivin mediate fragment N-induced protection or that several Akt effectors can compensate for each other to induce the pro-survival fragment N-dependent responses PMID: 23826368
7. The interaction between RASA1 and EPHB4 is an indication of the major cause of capillary malformation with arteriovenous malformation. PMID: 28687708
8. Low RASA1 expression is associated with Triple-Negative Breast Cancer. PMID: 28108518
9. QKI-5 stabilized RASA1 mRNA via directly binding to the QKI response element region of RASA1, which in turn prevented the activation of the Ras-MAPK signaling pathway, suppressed cellular proliferation and induced cell cycle arrest. PMID: 27767378
10. Data show that patients with low level of Ras GTPase-activating protein 1 (RASA1) expression correlated with a significantly poorer survival compared to those with high level of RASA1 expression. PMID: 28179330
11. Results show that oncogenic KRAS can activate Rho through miR-31-mediated regulation of RASA1 indicating miR-31 acts as a KRAS effector to modulate invasion and migration in pancreatic cancer. PMID: 26747707
12. Data suggest that, in response to netrin-1/netrin receptor (DCC) signaling, p120RasGAP is recruited to growth cones and supports axon outgrowth; p120RasGAP Src homology 2 domains exhibit scaffolding properties sufficient to support axon outgrowth. PMID: 26710849
13. Maternal and fetal capillary malformation-arteriovenous malformation due to a novel RASA1 mutation presenting with prenatal non-immune hydrops fetalis have been found. PMID: 26096958
14. This is the second largest study on isolated, non-syndromic Port-wine stain; data suggest that GNAQ is the main genetic determinant in this condition. Moreover, isolated port-wine stains are distinct from capillary malformations seen in RASA1 disorders. PMID: 26192947
15. Data showed that hypoxia regulated the expression of miR-182 and RASA1 to promote HCC angiogenesis. PMID: 26126858
16. p120RasGAP shields Akt from deactivating phosphatases in FGF1 signaling, but loses this ability once cleaved by caspase-3. PMID: 26109071
17. Capillary malformation-arteriovenous malformation syndrome (CM-AVM) is an autosomal dominant disorder caused by RASA1 mutations. PMID: 25040287
18. Multifocal, small, round-to-oval, pinkish-to-red cutaneous capillary malformations are seen in more than 90% of people with RASA1 mutations. PMID: 23829194
19. miR-21 promotes malignant behaviors of colon cancer cells by regulating RASA1 expression via RAS pathways. PMID: 25663768
20. The individual contribution of each Akt isoform in p120 RasGAP fragment N-mediated cell protection against Fas ligand induced cell death, was investigated. PMID: 25246356
21. Low RASA1 expression is associated with colorectal cancer. PMID: 25867276
22. Results show that report that RasGAP associates to PDGFRbeta and prevents its direct activation. This underlying mechanism raises the possibility that PDGFRbeta-mediated diseases involve indirect activation of PDGFRbeta. PMID: 25733681
23. RASA1 expression is associated with breast cancer progression and poor survival and diseasefree survival of patients. PMID: 25394563
24. Antisense-mediated knockdown (anti-miR) revealed that miR-206/21 coordinately promote RAS-ERK signaling and the corresponding cell phenotypes by inhibiting translation of the pathway suppressors RASA1 and SPRED1. PMID: 25202123
25. A ubiquitous binding partner of p190RhoGAP, p120RasGAP (RasGAP), is expressed in much lower levels in DKO4 cells compared to DLD1, and this expression is regulated by KRAS. PMID: 24465899
26. The results of the present study indicate that P110, in combination with chemotherapeutics, is likely to represent a potential therapeutic strategy for cancer. PMID: 23447049
27. The novel findings of this study shed light on the molecular mechanisms underlying the DLC1 inhibitory effects of p120 and suggest a functional cross-talk between Ras and Rho proteins at the level of regulatory proteins. PMID: 24443565
28. RASA1 mutations specifically cause capillary malformation-arteriovenous malformation. PMID: 24038909
29. These results indicate that stress-activated caspase-3 might contribute to the suppression of metastasis through the generation of fragment N2( RasGAP PMID: 24347041
30. our study reveals mir-182 suppresses cell proliferation in vivo. RASA1 is related to cell apoptosis. We further show that mir-182 downregulates RASA1 PMID: 24600991
31. RASA1 mutation is responsible for the aberrant lymphatic architecture and functional abnormalities, as visualized in the PKWS subject and in the animal model. PMID: 23650393
32. MicroRNA-31 activates the RAS pathway and functions as an oncogenic MicroRNA by repressing RAS p21 GTPase activating protein 1 (RASA1) PMID: 23322774
33. 14-3-3 negatively regulates the RGC downstream of the PI3-kinase/Akt signaling pathway PMID: 23386617
34. capillary malformation-arteriovenous malformation syndrome; study reports a family with a novel mutation in the RASA1 gene - a truncating mutation in exon 11 of RASA1 (Q503X) PMID: 23158644
35. Ras and GTPase-activating protein (GAP) drive GTP into a precatalytic state as revealed by combining FTIR and biomolecular simulations PMID: 22949691
36. multifocal capillary malformations is the key clinical finding to suggest a RASA1 mutation PMID: 22200646
37. An update of the associated phenotype variability in a family with hereditary capillary malformations caused by a mutation in the RASA1 gene. PMID: 22342634
38. arguments against G3BP1 being a genuine RasGAP-binding partner PMID: 22205990
39. Cell adhesion to the substrate is necessary for RasGAP to bind Nck1. Cell detachment makes RasGAP incapable of associating with Nck1 and decreases RasGAP activity. PMID: 21664272
40. The results assign an unexpected role for p120RasGAP in the regulation of integrin traffic in cancer cells and reveal a new concept of competitive binding of Rab GTPases and GAP proteins to receptors as a regulatory mechanism in trafficking. PMID: 21768288
41. Nck1 activates RasGAP by direct binding in the substrate-attached but not in the suspended cells. PMID: 21664272
42. An important role is revealed for p120 RasGAP (RASA1) as a transgenic regulator of CD4+CD8+ double-positive cell survival and positive selection in the thymus as well as naive T cell survival in the periphery. PMID: 21646295
43. Ras mutation cooperates with beta-catenin activation to drive bladder tumourigenesis. PMID: 21368895
44. A novel synonymous mutation (c.1229 G > A [p.K420K]) of RASA1 was identified in a Chinese population with sporadic Sturge-Weber syndrome PMID: 20821215
45. Sema4D/Plexin-B1 promotes the dephosphorylation and activation of PTEN through the R-Ras GAP activity, inducing growth cone collapse. PMID: 20610402
46. miR-132 acts as an angiogenic switch by suppressing endothelial p120RasGAP expression. PMID: 20676106
47. In a collaborative study, 5 index patients (2 females, 3 males) with spinal AVMs or AVFs and cutaneous multifocal capillary lesions were investigated for the RASA1 gene mutation. PMID: 20007727
48. We show a novel alternative pathway of apoptosis in human primary cells that is mediated by transcriptionally dependent decreases in p53 and c-Myc and decreases in p21. PMID: 11751853
49. N-terminal fragment generated by caspase cleavage protects cells in a Ras/PI3K/Akt-dependent manner that does not rely on NFkappa B activation PMID: 11847220
50. mutual regulation of Ras and NF1-GAP is essential for normal neuronal differentiation PMID: 12730209

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HGNC: 9871

OMIM: 139150

KEGG: hsa:5921

STRING: 9606.ENSP00000274376

UniGene: Hs.664080