Ask about this productRelated genes to: Rasa1 Blocking Peptide
- Gene:
- RASA1 NIH gene
- Name:
- RAS p21 protein activator 1
- Previous symbol:
- RASA
- Synonyms:
- GAP, CM-AVM, p120GAP, p120RASGAP, p120
- Chromosome:
- 5q14.3
- Locus Type:
- gene with protein product
- Date approved:
- 1989-06-30
- Date modifiied:
- 2016-10-05
Related products to: Rasa1 Blocking Peptide
Related articles to: Rasa1 Blocking Peptide
- Ras p21 protein activator 1 (RASA1) is mainly located on cytoplasm and can regulate GTPase activity. The goal of this study was to analyze the association between pulmonary RASA1 expression and chronic obstructive pulmonary disease (COPD) and the potential mechanisms. - Source: PubMed
Publication date: 2026/06/02
Wu Ju-HongMa Yi-ChengWang Yu-QiMiao Hai-LongLiu Meng-XueHua Dong-XuTang Min-MinSui Tian-RuiWu Zhi-YongWang YuYang JinZhao HuiFei JunZhao Xu-DongZhang FangFu LinCao Wei - RASA1-related disorders typically present as capillary malformation-arteriovenous malformation (CM-AVM) syndrome; visceral, especially diffuse gastrointestinal (GI) involvement has not previously been reported. We describe the first case of extensive GI vascular malformations caused by a novel RASA1 splice-site mutation. A 29-year-old man presented with 2-year intermittent hematochezia. Contrast-enhanced CT, double-balloon enteroscopy (DBE) and superior mesenteric angiography revealed diffuse vascular malformations throughout the small bowel and stomach. Targeted next-generation sequencing identified a heterozygous de-novo splice-donor mutation (NM_002890.3:c.1049+2T>G) in intron 6 of RASA1, predicted to be pathogenic. An incidental likely-pathogenic heterozygous frameshift variant in MYBPC3 (NM_000256.3:c.989del, p.Pro330HisfsTer20) was also detected. ISSVA (International Society for the Study of Vascular Anomalies) classifies it as Capillary Malformation-Arteriovenous Malformation (CM-AVM) within Fast-flow Vascular Malformations. Multidisciplinary consultation concluded that the lesions were too extensive for curative resection; the patient was discharged for close surveillance with a plan for sirolimus trial and selective surgical, Interventional or endoscopic hemostasis as needed. This case expands the phenotypic spectrum of RASA1 loss-of-function variants to include diffuse GI vascular malformations. When young patients present with obscure GI bleeding and imaging suggests multifocal angiodysplasia, germline RASA1 analysis should be considered. Early molecular diagnosis facilitates family counseling, targeted surveillance, and personalized therapy. - Source: PubMed
Publication date: 2026/05/29
Wu LangNing ShoubinChen HongyuWei BaojieLi Bairong - The RASA1 gene is mutated in cerebrovascular disorders and cancer, yet how the resulting mutations in the GTPase Activating Protein, RasGAP (p120RasGAP, RASA1) dysregulate signaling remains poorly understood. Here, we catalogue currently reported disease-associated mutations in RASA1 and assess their impact on RasGAP protein in vitro. On mapping these mutations onto experimental structures and structural models of RasGAP we identify regions that suggest functional impact. We assess key mutations within these regions for their effects on protein expression, thermal stability, and their interactions with a known binding partner, p190RasGAP. We then assess Michaelis-Menten kinetics of the mutant RasGAP proteins towards Ras. 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. - Source: PubMed
Publication date: 2026/05/27
Paul Maxum EDelelegne Rediet BChau Jocelyn EBoggon Titus J - Cancer-associated fibroblasts (CAFs) in the tumor microenvironment play an important role in cancer initiation and progression through mediating crosstalk between CAFs and cancer cells. In our study, we unveiled that CAFs-derived extracellular vesicles (EVs) could deliver miR-375 to endothelial cells (EC) and further contribute to tumor angiogenesis by regulating Ras GTPase Activating Protein 1 (RASA1) in hepatocellular carcinoma (HCC). We also found that HCC patients with more advanced disease showed higher levels of miR-375 in plasma EVs, which were preferentially expressed in the EVs of CAFs. These data provided direct evidence supporting the pivotal role of the tumor suppressor miR-375, which is selectively sorted into CAF-derived EVs, in promoting angiogenesis during HCC progression and revealed that genetically modified CAF-derived EVs may provide a potential therapeutic strategy for HCC. Furthermore, our study indicated that miR-375 in plasma EVs could serve as a potential predictive and prognostic biomarker in HCC patients. - Source: PubMed
Publication date: 2026/05/24
Qin WeiWang LiHu BeiyuanXiao CuicuiWu XiaoYingTian HuanPeng Songlin - Extracranial arteriovenous malformation (AVM) is a rare and debilitating condition with significant morbidity. Clinical trial evidence for targeted therapies remains limited. We evaluated the efficacy and safety of luvometinib, a MEK1/2 inhibitor, in adults with complicated AVM that were inoperable, unsuitable for intervention, relapsed after surgery, or failed previous treatment. - Source: PubMed
Publication date: 2026/05/13
Hua ChenWu ZhuliWang XingliLiu HuilongLi BenZheng YangLin Xiaoxi