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GENE:

RASA1 (RAS P21 Protein Activator 1)

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Other names: RASA1, RAS P21 Protein Activator 1, P120GAP, GAP, Ras GTPase-Activating Protein 1, P120RASGAP, CM-AVM, P120, RASA, RAS P21 Protein Activator (GTPase Activating Protein) 1, P120 RAS GTPase Activating Protein, Capillary Malformation-Arteriovenous Malformation, Triphosphatase-Activating Protein, GTPase-Activating Protein, Ras P21 Protein Activator, CMAVM1, RASGAP, RasGAP, CMAVM, PKWS
Associations
7d
Preclinical • Journal
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KRAS (KRAS proto-oncogene GTPase) • CRP (C-reactive protein) • RASA1 (RAS P21 Protein Activator 1)
2ms
PA32 Terra firma-forme dermatosis in siblings. (PubMed, Br J Dermatol)
While the pathogenesis of TFFD is unknown, it has been hypothesized that it represents a forme fruste of confluent and reticulated papillomatosis of Gougerot and Carteaud. The co-occurrence of the condition in siblings suggests that TTFD may be caused by an autosomal dominant mutation, potentially in a keratin gene.
Journal
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RASA1 (RAS P21 Protein Activator 1)
2ms
USP8-Rearranged Mesenchymal Tumors With Myofibroblastic Phenotype: A Comprehensive Clinicopathological, Genetic, and Epigenetic Characterization. (PubMed, Mod Pathol)
Taken together, these findings support the concept of a USP8-rearranged myofibroblastic neoplasm as a potentially distinct entity, but the precise relationship with nodular fasciitis and inflammatory myofibroblastic tumor remains uncertain. Further studies integrating morphology, epigenetics, and transcriptomics are needed to clarify this relationship.
Journal
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PDGFRA (Platelet Derived Growth Factor Receptor Alpha) • PTPN11 (Protein Tyrosine Phosphatase Non-Receptor Type 11) • USP6 (Ubiquitin Specific Peptidase 6) • FARP1 (FERM, ARH/RhoGEF And Pleckstrin Domain Protein 1) • RASA1 (RAS P21 Protein Activator 1)
3ms
Clinically observed RASA1 missense mutants exhibit diverse RasGAP protein behaviors. (PubMed, bioRxiv)
Together, we find that disease-associated RasGAP mutations classify into a panel of distinct classes based on their mode of dysregulation. We demonstrate that protein stability is necessary but not sufficient for full catalytic activity and that destabilizing mutations across the length of the protein can disrupt this function, but that the C2 domain appears to be unique in its role of regulating GAP activity by mechanisms other than destabilization involving the interactions of specific residues.
Journal
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RASA1 (RAS P21 Protein Activator 1)
6ms
JSI-1187-01 Monotherapy and in Combination With Dabrafenib for Advanced Solid Tumors With MAPK Pathway Mutations (clinicaltrials.gov)
P1, N=71, Suspended, JS InnoPharm, LLC | Trial completion date: Dec 2024 --> Dec 2025 | Trial primary completion date: Jun 2024 --> Dec 2025
Trial completion date • Trial primary completion date
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MAP2K1 (Mitogen-activated protein kinase kinase 1) • NF1 (Neurofibromin 1) • RASA1 (RAS P21 Protein Activator 1)
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BRAF V600E • BRAF V600K
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Tafinlar (dabrafenib) • JSI-1187
7ms
Daraxonrasib, a pan-RAS inhibitor, selectively inhibits osteosarcomas with activated KRAS by halting AKT signaling and matrix metalloprotease activity. (PubMed, PLoS One)
The recently developed pan-KRAS inhibitor daraxonrasib, also known as RMC-6236, is capable of targeting a wide array of KRAS mutations and shows promise against pancreatic and lung cancers...In osteosarcoma, KRAS inhibition decreased MMP1, MMP9, and AKT/ETS1 signaling. Daraxonrasib is a promising agent for treating osteosarcoma with KRAS mutations.
Journal
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KRAS (KRAS proto-oncogene GTPase) • ETS1 (ETS Proto-Oncogene 1) • MMP9 (Matrix metallopeptidase 9) • MMP1 (Matrix metallopeptidase 1) • RASA1 (RAS P21 Protein Activator 1)
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KRAS wild-type • RAS wild-type
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daraxonrasib (RMC-6236)
8ms
High burden of variants of uncertain significance in early-onset colorectal cancer among indigenous African patients: a call for global research equity in cancer genetics. (PubMed, Mol Biol Rep)
Our findings reveal a high burden of potentially pathogenic VUSs in indigenous African patients with eoCRC, reflecting both unique genetic architecture and a critical gap in global genomic equity. These variants may contribute to future variant reclassification and improved understanding of CRC predisposition in African populations. This study underscores the urgent need for population-specific genomic research and the development of inclusive variant databases to support accurate diagnosis and personalised care.
Journal
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HER-2 (Human epidermal growth factor receptor 2) • PDGFRA (Platelet Derived Growth Factor Receptor Alpha) • NOTCH1 (Notch 1) • ASXL1 (ASXL Transcriptional Regulator 1) • WT1 (WT1 Transcription Factor) • NOTCH2 (Notch 2) • CHEK2 (Checkpoint kinase 2) • FAT1 (FAT atypical cadherin 1) • RAD51B (RAD51 Paralog B) • RAD54L (DNA Repair And Recombination Protein RAD54) • ERCC4 (ERCC Excision Repair 4, Endonuclease Catalytic Subunit) • IR (Insulin receptor) • MITF (Melanocyte Inducing Transcription Factor) • PYCR1 (Pyrroline-5-Carboxylate Reductase 1) • RECQL (RecQ Like Helicase) • LZTR1 (Leucine Zipper Like Transcription Regulator 1) • RASA1 (RAS P21 Protein Activator 1) • UGT1A7 (UDP Glucuronosyltransferase Family 1 Member A7)
8ms
Autophagy induced by Porphyromonas gingivalis aggravates esophageal squamous cell carcinoma via YAP/TAZ-miR-21-5p axis. (PubMed, Cell Signal)
Additionally, P. gingivalis infection was correlated with higher levels of miR-21-5p, YAP/TAZ, and LC3, all of which were associated with shorter overall survival of patients with ESCC. Taken together, our findings reveal that the YAP/TAZ-miR-21-5p-ERK axis plays a crucial role in the P. gingivalis-infected subtype of ESCC, suggesting P. gingivalis and the autophagy pathway as promising therapeutic targets for ESCC treatment.
Journal
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MIR21 (MicroRNA 21) • RASA1 (RAS P21 Protein Activator 1)
9ms
In vivo CRISPR screening identifies NF1/RASA1/TP53 co-mutations and downstream MEK signaling as a common key mechanism of sinonasal tumorigenesis. (PubMed, bioRxiv)
Indeed, both tumor cell lines derived from our loss-of-function approach as well as from human sinonasal malignancies displayed significant sensitivity to MEK inhibition in standard in vitro culture and organoid models. These findings demonstrate that loss of NF1 and RASA1-mediated Ras-GAP activity leads to Ras activation and downstream MEK signaling which is a potential common target throughout major sinonasal tumor subtypes.
Preclinical • Journal
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TP53 (Tumor protein P53) • NF1 (Neurofibromin 1) • RASA1 (RAS P21 Protein Activator 1)
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TP53 mutation
9ms
Journal
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ABCC2 (ATP Binding Cassette Subfamily C Member 2) • KCNJ12 (Potassium Inwardly Rectifying Channel Subfamily J Member 12) • LRP10 (LDL Receptor Related Protein 10) • DUSP1 (Dual Specificity Phosphatase 1) • MYO18A (Myosin XVIIIA) • RASA1 (RAS P21 Protein Activator 1) • TCIRG1 (T Cell Immune Regulator 1, ATPase H+ Transporting V0 Subunit A3) • ALOX15B (Arachidonate 15-Lipoxygenase Type B)
11ms
FCN-159-008: A phase II multicenter, open-label, single-arm study to evaluate the efficacy and safety of FCN-159 in adolescent and adult patients with extracranial arteriovenous malformation (ChiCTR2500096055)
P2, N=35, Not yet recruiting, Shanghai Ninth People's Hospital Affiliated to Shanghai Jiao Tong University School of Medicine; Shanghai Fosun Pharmaceutical (Group) Limited by Shar
New P2 trial
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KRAS (KRAS proto-oncogene GTPase) • BRAF (B-raf proto-oncogene) • NRAS (Neuroblastoma RAS viral oncogene homolog) • PTEN (Phosphatase and tensin homolog) • MAP2K1 (Mitogen-activated protein kinase kinase 1) • SMAD4 (SMAD family member 4) • MAP2K2 (Mitogen-activated protein kinase kinase 2) • EPHB4 (EPH receptor B4) • RASA1 (RAS P21 Protein Activator 1)
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Fu Mai Ning (luvometinib)
12ms
A Cross-Sectional Exploratory Study of Rat Sarcoid (Ras) Activation in Women with and Without Polycystic Ovary Syndrome. (PubMed, Cells)
After stratifying for BMI ≤ 29.9 kg/m2, EGFR FGF8, FGFR1 VEGF-D, IGF1, and IGF-1sR differed (p < 0.05) though EGF1, EGFRvIII, FGF8, FGFR1, and VEGF-D no longer differed; after subsequently stratifying for HOMA-IR, only FGFR1, VEGF-D, IGF1, and IGF-1sR differed between groups (p < 0.05). Several growth factors that activate Ras differ between women with and without PCOS, and when stratified for BMI and HOMA-IR, only FGFR1, VEGF-D, IGF1, and IGF-1sR differed; these appear to be inherent features of the pathophysiology of PCOS.
Preclinical • Journal
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EGFR (Epidermal growth factor receptor) • KRAS (KRAS proto-oncogene GTPase) • NRAS (Neuroblastoma RAS viral oncogene homolog) • FGFR1 (Fibroblast growth factor receptor 1) • HRAS (Harvey rat sarcoma viral oncogene homolog) • PDGFRA (Platelet Derived Growth Factor Receptor Alpha) • IGF1 (Insulin-like growth factor 1) • VEGFD (Vascular Endothelial Growth Factor D) • FGF8 (Fibroblast Growth Factor 8) • RASA1 (RAS P21 Protein Activator 1)