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Usage
For Research Use Only. Not for use in diagnostic or therapeutic procedures.
Inhibitory regulator of the Ras-cyclic AMP pathway. Stimulates the GTPase of normal but not oncogenic Ras p21; this stimulation may be further increased in the presence of NCK1.
Gene References into Functions
A somatic RASA1 mutation in addition to the germline RASA1 mutation, was detected within endothelial cells in capillary malformation-arteriovenous malformation.PMID:29024832
RASA1 variants are rarely found in children with sporadic capillary malformations of lower limbs without capillary malformation-arteriovenous malformation syndrome.PMID:29110021
RASA1 mutations are associated melanoma tumorigenesis.PMID:26993606
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
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
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 responsesPMID:23826368
The interaction between RASA1 and EPHB4 is an indication of the major cause of capillary malformation with arteriovenous malformation.PMID:28687708
Low RASA1 expression is associated with Triple-Negative Breast Cancer.PMID:28108518
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
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
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
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
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
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
Data showed that hypoxia regulated the expression of miR-182 and RASA1 to promote HCC angiogenesis.PMID:26126858
p120RasGAP shields Akt from deactivating phosphatases in FGF1 signaling, but loses this ability once cleaved by caspase-3.PMID:26109071
Capillary malformation-arteriovenous malformation syndrome (CM-AVM) is an autosomal dominant disorder caused by RASA1 mutations.PMID:25040287
Multifocal, small, round-to-oval, pinkish-to-red cutaneous capillary malformations are seen in more than 90% of people with RASA1 mutations.PMID:23829194
miR-21 promotes malignant behaviors of colon cancer cells by regulating RASA1 expression via RAS pathways.PMID:25663768
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
Low RASA1 expression is associated with colorectal cancer.PMID:25867276
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
RASA1 expression is associated with breast cancer progression and poor survival and diseasefree survival of patients.PMID:25394563
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
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
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
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
RASA1 mutations specifically cause capillary malformation-arteriovenous malformation.PMID:24038909
These results indicate that stress-activated caspase-3 might contribute to the suppression of metastasis through the generation of fragment N2( RasGAPPMID:24347041
our study reveals mir-182 suppresses cell proliferation in vivo. RASA1 is related to cell apoptosis. We further show that mir-182 downregulates RASA1PMID:24600991
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
MicroRNA-31 activates the RAS pathway and functions as an oncogenic MicroRNA by repressing RAS p21 GTPase activating protein 1 (RASA1)PMID:23322774
14-3-3 negatively regulates the RGC downstream of the PI3-kinase/Akt signaling pathwayPMID:23386617
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
Ras and GTPase-activating protein (GAP) drive GTP into a precatalytic state as revealed by combining FTIR and biomolecular simulationsPMID:22949691
multifocal capillary malformations is the key clinical finding to suggest a RASA1 mutationPMID:22200646
An update of the associated phenotype variability in a family with hereditary capillary malformations caused by a mutation in the RASA1 gene.PMID:22342634
arguments against G3BP1 being a genuine RasGAP-binding partnerPMID:22205990
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
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
Nck1 activates RasGAP by direct binding in the substrate-attached but not in the suspended cells.PMID:21664272
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
Ras mutation cooperates with beta-catenin activation to drive bladder tumourigenesis.PMID:21368895
A novel synonymous mutation (c.1229 G > A [p.K420K]) of RASA1 was identified in a Chinese population with sporadic Sturge-Weber syndromePMID:20821215
Sema4D/Plexin-B1 promotes the dephosphorylation and activation of PTEN through the R-Ras GAP activity, inducing growth cone collapse.PMID:20610402
miR-132 acts as an angiogenic switch by suppressing endothelial p120RasGAP expression.PMID:20676106
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
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
N-terminal fragment generated by caspase cleavage protects cells in a Ras/PI3K/Akt-dependent manner that does not rely on NFkappa B activationPMID:11847220
mutual regulation of Ras and NF1-GAP is essential for normal neuronal differentiationPMID:12730209
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Subcellular Location
Cytoplasm.
Tissue Specificity
In placental villi, detected only in the trophoblast layer (cytotrophoblast and syncytiotrophoblast). Not detected in stromal, endothelial or Hofbauer cells (at protein level).