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RASA1 RAS p21 protein activator 1 [ Homo sapiens (human) ]

Gene ID: 5921, updated on 5-Aug-2018
Official Symbol
RASA1provided by HGNC
Official Full Name
RAS p21 protein activator 1provided by HGNC
Primary source
HGNC:HGNC:9871
See related
Ensembl:ENSG00000145715 MIM:139150; Vega:OTTHUMG00000162605
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
GAP; PKWS; RASA; p120; CMAVM; CM-AVM; RASGAP; p120GAP; p120RASGAP
Summary
The protein encoded by this gene is located in the cytoplasm and is part of the GAP1 family of GTPase-activating proteins. The gene product stimulates the GTPase activity of normal RAS p21 but not its oncogenic counterpart. Acting as a suppressor of RAS function, the protein enhances the weak intrinsic GTPase activity of RAS proteins resulting in the inactive GDP-bound form of RAS, thereby allowing control of cellular proliferation and differentiation. Mutations leading to changes in the binding sites of either protein are associated with basal cell carcinomas. Mutations also have been associated with hereditary capillary malformations (CM) with or without arteriovenous malformations (AVM) and Parkes Weber syndrome. Alternative splicing results in two isoforms where the shorter isoform, lacking the N-terminal hydrophobic region but retaining the same activity, appears to be abundantly expressed in placental but not adult tissues. [provided by RefSeq, May 2012]
Expression
Broad expression in placenta (RPKM 37.4), testis (RPKM 12.6) and 24 other tissues See more
Orthologs
See RASA1 in Genome Data Viewer
Location:
5q14.3
Exon count:
26
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 5 NC_000005.10 (87267845..87391926)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (86564070..86687743)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC101929380 Neighboring gene microRNA 4280 Neighboring gene long intergenic non-protein coding RNA 1949 Neighboring gene RNA, 7SL, cytoplasmic 629, pseudogene Neighboring gene RNA, U6 small nuclear 606, pseudogene Neighboring gene uncharacterized LOC644285 Neighboring gene cyclin H Neighboring gene uncharacterized LOC105379066 Neighboring gene RNA, U6 small nuclear 727, pseudogene Neighboring gene long intergenic non-protein coding RNA 2488

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Jun 15 11:32:44 2016

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated (2013-02-21)

ClinGen Genome Curation Page
Haploinsufficency

Sufficient evidence for dosage pathogenicity (Last evaluated (2013-02-21)

ClinGen Genome Curation Page

NHGRI GWAS Catalog

Description
Common genetic variation and antidepressant efficacy in major depressive disorder: a meta-analysis of three genome-wide pharmacogenetic studies.
NHGRI GWA Catalog
Meta-analysis of genome-wide association studies for personality.
NHGRI GWA Catalog
  • ARMS-mediated activation, organism-specific biosystem (from REACTOME)
    ARMS-mediated activation, organism-specific biosystemARMS (Ankyrin-Rich Membrane Spanning/Kidins 220) is a 220kD tetraspanning adaptor protein which becomes rapidly tyrosine phosphorylated by active Trk receptors. ARMS is another adaptor protein which ...
  • Angiopoietin receptor Tie2-mediated signaling, organism-specific biosystem (from Pathway Interaction Database)
    Angiopoietin receptor Tie2-mediated signaling, organism-specific biosystem
    Angiopoietin receptor Tie2-mediated signaling
  • Aurora A signaling, organism-specific biosystem (from Pathway Interaction Database)
    Aurora A signaling, organism-specific biosystem
    Aurora A signaling
  • Aurora B signaling, organism-specific biosystem (from Pathway Interaction Database)
    Aurora B signaling, organism-specific biosystem
    Aurora B signaling
  • Axon guidance, organism-specific biosystem (from KEGG)
    Axon guidance, organism-specific biosystemAxon guidance represents a key stage in the formation of neuronal network. Axons are guided by a variety of guidance factors, such as netrins, ephrins, Slits, and semaphorins. These guidance cues are...
  • Axon guidance, conserved biosystem (from KEGG)
    Axon guidance, conserved biosystemAxon guidance represents a key stage in the formation of neuronal network. Axons are guided by a variety of guidance factors, such as netrins, ephrins, Slits, and semaphorins. These guidance cues are...
  • Axon guidance, organism-specific biosystem (from REACTOME)
    Axon guidance, organism-specific biosystemAxon guidance / axon pathfinding is the process by which neurons send out axons to reach the correct targets. Growing axons have a highly motile structure at the growing tip called the growth cone, w...
  • BCR signaling pathway, organism-specific biosystem (from Pathway Interaction Database)
    BCR signaling pathway, organism-specific biosystem
    BCR signaling pathway
  • Cytokine Signaling in Immune system, organism-specific biosystem (from REACTOME)
    Cytokine Signaling in Immune system, organism-specific biosystemCytokines are small proteins that regulate and mediate immunity, inflammation, and hematopoiesis. They are secreted in response to immune stimuli, and usually act briefly, locally, at very low concen...
  • DAP12 interactions, organism-specific biosystem (from REACTOME)
    DAP12 interactions, organism-specific biosystemDNAX activation protein of 12kDa (DAP12) is an immunoreceptor tyrosine-based activation motif (ITAM)-bearing adapter molecule that transduces activating signals in natural killer (NK) and myeloid cel...
  • DAP12 signaling, organism-specific biosystem (from REACTOME)
    DAP12 signaling, organism-specific biosystemIn response to receptor ligation, the tyrosine residues in DAP12's immunoreceptor tyrosine-based activation motif (ITAM) are phosphorylated by Src family kinases. These phosphotyrosines form the dock...
  • Developmental Biology, organism-specific biosystem (from REACTOME)
    Developmental Biology, organism-specific biosystemAs a first step towards capturing the array of processes by which a fertilized egg gives rise to the diverse tissues of the body, examples of three kinds of processes have been annotated. These are a...
  • Disease, organism-specific biosystem (from REACTOME)
    Disease, organism-specific biosystemBiological processes are captured in Reactome by identifying the molecules (DNA, RNA, protein, small molecules) involved in them and describing the details of their interactions. From this molecular ...
  • Diseases of signal transduction, organism-specific biosystem (from REACTOME)
    Diseases of signal transduction, organism-specific biosystemSignaling processes are central to human physiology (e.g., Pires-da Silva & Sommer 2003), and their disruption by either germ-line and somatic mutation can lead to serious disease. Here, the molecula...
  • Downstream signal transduction, organism-specific biosystem (from REACTOME)
    Downstream signal transduction, organism-specific biosystemThe role of autophosphorylation sites on PDGF receptors are to provide docking sites for downstream signal transduction molecules which contain SH2 domains. The SH2 domain is a conserved motif of aro...
  • EGF receptor (ErbB1) signaling pathway, organism-specific biosystem (from Pathway Interaction Database)
    EGF receptor (ErbB1) signaling pathway, organism-specific biosystem
    EGF receptor (ErbB1) signaling pathway
  • EGF/EGFR Signaling Pathway, organism-specific biosystem (from WikiPathways)
    EGF/EGFR Signaling Pathway, organism-specific biosystemEpidermal growth factor receptor (EGFR) also known as ErbB1/HER1 is a member of the ErbB family of receptor tyrosine kinases which also includes ErbB2 (Neu, HER2), ErbB3 (HER3) and ErbB4 (HER4). Sev...
  • EPH-Ephrin signaling, organism-specific biosystem (from REACTOME)
    EPH-Ephrin signaling, organism-specific biosystemDuring the development process cell migration and adhesion are the main forces involved in morphing the cells into critical anatomical structures. The ability of a cell to migrate to its correct dest...
  • EPHB forward signaling, organism-specific biosystem (from Pathway Interaction Database)
    EPHB forward signaling, organism-specific biosystem
    EPHB forward signaling
  • EPHB-mediated forward signaling, organism-specific biosystem (from REACTOME)
    EPHB-mediated forward signaling, organism-specific biosystemMultiple EPHB receptors contribute directly to dendritic spine development and morphogenesis. These are more broadly involved in post-synaptic development through activation of focal adhesion kinase ...
  • EPO Receptor Signaling, organism-specific biosystem (from WikiPathways)
    EPO Receptor Signaling, organism-specific biosystemThe erythropoietin receptor is a 66 kDa peptide and is a member of the cytokine receptor family. The receptor is tyrosine phosphorylated upon binding by erythropoietin and associates with and activat...
  • FCERI mediated MAPK activation, organism-specific biosystem (from REACTOME)
    FCERI mediated MAPK activation, organism-specific biosystemFormation of the LAT signaling complex leads to activation of MAPK and production of cytokines. The sequence of events that leads from LAT to cytokine production has not been as clearly defined as th...
  • Fc epsilon receptor (FCERI) signaling, organism-specific biosystem (from REACTOME)
    Fc epsilon receptor (FCERI) signaling, organism-specific biosystemMast cells (MC) are distributed in tissues throughout the human body and have long been recognized as key cells of type I hypersensitivity reactions. They also play important roles in inflammatory an...
  • Fc-epsilon receptor I signaling in mast cells, organism-specific biosystem (from Pathway Interaction Database)
    Fc-epsilon receptor I signaling in mast cells, organism-specific biosystem
    Fc-epsilon receptor I signaling in mast cells
  • Frs2-mediated activation, organism-specific biosystem (from REACTOME)
    Frs2-mediated activation, organism-specific biosystemThe adaptor protein Frs2 (Fibroblast growth factor receptor substrate 2) can mediate the prolonged activation of the MAPK (ERK) cascade.
  • GRB2 events in EGFR signaling, organism-specific biosystem (from REACTOME)
    GRB2 events in EGFR signaling, organism-specific biosystemAutophosphorylated EGFR tyrosine residues are docking sites for many downstream effectors in EGFR signaling. The adaptor protein GRB2 binds to phosphotyrosine residues in the C-tail of EGFR through i...
  • Gastrin-CREB signalling pathway via PKC and MAPK, organism-specific biosystem (from REACTOME)
    Gastrin-CREB signalling pathway via PKC and MAPK, organism-specific biosystemGastrin is a hormone whose main function is to stimulate secretion of hydrochloric acid by the gastric mucosa, which results in gastrin formation inhibition. This hormone also acts as a mitogenic fac...
  • IGF1R signaling cascade, organism-specific biosystem (from REACTOME)
    IGF1R signaling cascade, organism-specific biosystemAfter autophosphorylation the type 1 insulin-like growth factor receptor (IGF1R) binds and phosphorylates scaffold proteins, IRS1/2/4 and SHC1, which in turn bind effectors possessing enzymatic activ...
  • IL2-mediated signaling events, organism-specific biosystem (from Pathway Interaction Database)
    IL2-mediated signaling events, organism-specific biosystem
    IL2-mediated signaling events
  • IRS-mediated signalling, organism-specific biosystem (from REACTOME)
    IRS-mediated signalling, organism-specific biosystemRelease of phospho-IRS from the insulin receptor triggers a cascade of signalling events via PI3K, SOS, RAF and the MAP kinases.
  • IRS-related events triggered by IGF1R, organism-specific biosystem (from REACTOME)
    IRS-related events triggered by IGF1R, organism-specific biosystemThe phosphorylated type 1 insulin-like growth factor receptor phosphorylates IR1, IRS2, IRS4 and possibly other IRS/DOK family members (reviewed in Pavelic et al. 2007, Chitnis et al. 2008, Maki et a...
  • Immune System, organism-specific biosystem (from REACTOME)
    Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...
  • Innate Immune System, organism-specific biosystem (from REACTOME)
    Innate Immune System, organism-specific biosystemInnate immunity encompases the nonspecific part of immunity tha are part of an individual's natural biologic makeup
  • Insulin Pathway, organism-specific biosystem (from Pathway Interaction Database)
    Insulin Pathway, organism-specific biosystem
    Insulin Pathway
  • Insulin receptor signalling cascade, organism-specific biosystem (from REACTOME)
    Insulin receptor signalling cascade, organism-specific biosystemAutophosphorylation of the insulin receptor triggers a series of signalling events, mediated by SHC or IRS, and resulting in activation of the Ras/RAF and MAP kinase cascades. A second effect of the ...
  • Interleukin receptor SHC signaling, organism-specific biosystem (from REACTOME)
    Interleukin receptor SHC signaling, organism-specific biosystemPhosphorylation of Shc at three tyrosine residues, 239, 240 (Gotoh et al. 1996) and 317 (Salcini et al. 1994) involves unidentified tyrosine kinases presumed to be part of the activated receptor comp...
  • Interleukin-2 signaling, organism-specific biosystem (from REACTOME)
    Interleukin-2 signaling, organism-specific biosystemInterleukin-2 (IL-2) is a cytokine that is produced by T cells in response to antigen stimulation. Originally, IL-2 was discovered because of its potent growth factor activity on activated T cells in...
  • Interleukin-3, 5 and GM-CSF signaling, organism-specific biosystem (from REACTOME)
    Interleukin-3, 5 and GM-CSF signaling, organism-specific biosystemThe Interleukin-3 (IL-3), IL-5 and Granulocyte-macrophage colony stimulating factor (GM-CSF) receptors form a family of heterodimeric receptors that have specific alpha chains but share a common beta...
  • MAPK Signaling Pathway, organism-specific biosystem (from WikiPathways)
    MAPK Signaling Pathway, organism-specific biosystemThe mitogen-activated protein kinase (MAPK) cascade is a highly conserved module that is involved in various cellular functions, including cell proliferation, differentiation and migration. Mammals e...
  • MAPK family signaling cascades, organism-specific biosystem (from REACTOME)
    MAPK family signaling cascades, organism-specific biosystemThe mitogen activated protein kinases (MAPKs) are a family of conserved protein serine threonine kinases that respond to varied extracellular stimuli to activate intracellular processes including gen...
  • MAPK signaling pathway, organism-specific biosystem (from KEGG)
    MAPK signaling pathway, organism-specific biosystemThe mitogen-activated protein kinase (MAPK) cascade is a highly conserved module that is involved in various cellular functions, including cell proliferation, differentiation and migration. Mammals e...
  • MAPK signaling pathway, conserved biosystem (from KEGG)
    MAPK signaling pathway, conserved biosystemThe mitogen-activated protein kinase (MAPK) cascade is a highly conserved module that is involved in various cellular functions, including cell proliferation, differentiation and migration. Mammals e...
  • MAPK1/MAPK3 signaling, organism-specific biosystem (from REACTOME)
    MAPK1/MAPK3 signaling, organism-specific biosystemThe extracellular signal regulated kinases (ERKs) 1 and 2, also known as MAPK3 and MAPK1, are phosphorylated by the MAP2Ks 1 and 2 in response to a wide range of extracellular stimuli to promote diff...
  • NCAM signaling for neurite out-growth, organism-specific biosystem (from REACTOME)
    NCAM signaling for neurite out-growth, organism-specific biosystemThe neural cell adhesion molecule, NCAM, is a member of the immunoglobulin (Ig) superfamily and is involved in a variety of cellular processes of importance for the formation and maintenance of the n...
  • NGF signalling via TRKA from the plasma membrane, organism-specific biosystem (from REACTOME)
    NGF signalling via TRKA from the plasma membrane, organism-specific biosystemTrk receptors signal from the plasma membrane and from intracellular membranes, particularly from early endosomes. Signalling from the plasma membrane is fast but transient; signalling from endosomes...
  • Neurotrophic factor-mediated Trk receptor signaling, organism-specific biosystem (from Pathway Interaction Database)
    Neurotrophic factor-mediated Trk receptor signaling, organism-specific biosystem
    Neurotrophic factor-mediated Trk receptor signaling
  • Oncogenic MAPK signaling, organism-specific biosystem (from REACTOME)
    Oncogenic MAPK signaling, organism-specific biosystemThe importance of the RAS/RAF/MAPK cascade in regulating cellular proliferation, differentiation and survival is highlighted by the fact that components of the pathway are mutated with high frequency...
  • PDGF Pathway, organism-specific biosystem (from WikiPathways)
    PDGF Pathway, organism-specific biosystemPDGF belongs to the PDGF/VEGF (vascular endothelial growth factor) family, which is characterized by eight strictly conserved cysteine residues with similar spacing in between (Joukov et al., 1997; H...
  • PDGFR-beta signaling pathway, organism-specific biosystem (from Pathway Interaction Database)
    PDGFR-beta signaling pathway, organism-specific biosystem
    PDGFR-beta signaling pathway
  • PTK6 Regulates RHO GTPases, RAS GTPase and MAP kinases, organism-specific biosystem (from REACTOME)
    PTK6 Regulates RHO GTPases, RAS GTPase and MAP kinases, organism-specific biosystemPTK6 promotes cell motility and migration by regulating the activity of RHO GTPases RAC1 (Chen et al. 2004) and RHOA (Shen et al. 2008). PTK6 inhibits RAS GTPase activating protein RASA1 (Shen et al....
  • Prolonged ERK activation events, organism-specific biosystem (from REACTOME)
    Prolonged ERK activation events, organism-specific biosystemAfter NGF binding, activated Trk receptors provide multiple docking sites for adaptor proteins and enzymes. Two docking proteins, the Ankyrin-Rich Membrane Spanning protein (ARMS/Kidins220) and Fibro...
  • RAF/MAP kinase cascade, organism-specific biosystem (from REACTOME)
    RAF/MAP kinase cascade, organism-specific biosystemThe RAS-RAF-MEK-ERK pathway regulates processes such as proliferation, differentiation, survival, senescence and cell motility in response to growth factors, hormones and cytokines, among others. Bin...
  • RET signaling, organism-specific biosystem (from REACTOME)
    RET signaling, organism-specific biosystemThe RET proto-oncogene encodes a receptor tyrosine kinase expressed primarily in urogenital precursor cells, spermatogonocytes, dopaminergic neurons, motor neurons and neural crest progenitors and de...
  • Rac1/Pak1/p38/MMP-2 pathway, organism-specific biosystem (from WikiPathways)
    Rac1/Pak1/p38/MMP-2 pathway, organism-specific biosystemRac1/p38 pathway from Ingenuity Pathway Analysis.
  • Ras signaling pathway, organism-specific biosystem (from KEGG)
    Ras signaling pathway, organism-specific biosystemThe Ras proteins are GTPases that function as molecular switches for signaling pathways regulating cell proliferation, survival, growth, migration, differentiation or cytoskeletal dynamism. Ras prote...
  • Regulation of RAS by GAPs, organism-specific biosystem (from REACTOME)
    Regulation of RAS by GAPs, organism-specific biosystemThe intrinsic GTPase activity of RAS proteins is stimulated by the GAP proteins, of which there are at least 10 in the human genome (reviewed in King et al, 2013).
  • SHC1 events in EGFR signaling, organism-specific biosystem (from REACTOME)
    SHC1 events in EGFR signaling, organism-specific biosystemGRB2 can bind EGFR directly or through another SH2-containing protein, SHC1. This association leads to RAS activation.
  • SOS-mediated signalling, organism-specific biosystem (from REACTOME)
    SOS-mediated signalling, organism-specific biosystemSOS is recruited to the plasma membrane and mediates activation of Ras.
  • Signal Transduction, organism-specific biosystem (from REACTOME)
    Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
  • Signaling by EGFR, organism-specific biosystem (from REACTOME)
    Signaling by EGFR, organism-specific biosystemThe epidermal growth factor receptor (EGFR) is one member of the ERBB family of transmembrane glycoprotein tyrosine receptor kinases (RTK). Binding of EGFR to its ligands induces conformational chang...
  • Signaling by GPCR, organism-specific biosystem (from REACTOME)
    Signaling by GPCR, organism-specific biosystemG protein-coupled receptors (GPCRs; 7TM receptors; seven transmembrane domain receptors; heptahelical receptors; G protein-linked receptors [GPLR]) are the largest family of transmembrane receptors i...
  • Signaling by Insulin receptor, organism-specific biosystem (from REACTOME)
    Signaling by Insulin receptor, organism-specific biosystemInsulin binding to its receptor results in receptor autophosphorylation on tyrosine residues and the tyrosine phosphorylation of insulin receptor substrates (e.g. IRS and Shc) by the insulin receptor...
  • Signaling by Interleukins, organism-specific biosystem (from REACTOME)
    Signaling by Interleukins, organism-specific biosystemInterleukins are low molecular weight proteins that bind to cell surface receptors and act in an autocrine and/or paracrine fashion. They were first identified as factors produced by leukocytes but a...
  • Signaling by Leptin, organism-specific biosystem (from REACTOME)
    Signaling by Leptin, organism-specific biosystemLeptin (LEP, OB, OBS), a circulating adipokine, and its receptor LEPR (DB, OBR) control food intake and energy balance and are implicated in obesity-related diseases (recently reviewed in Amitani et ...
  • Signaling by PDGF, organism-specific biosystem (from REACTOME)
    Signaling by PDGF, organism-specific biosystemPlatelet-derived Growth Factor (PDGF) is a potent stimulator of growth and motility of connective tissue cells such as fibroblasts and smooth muscle cells as well as other cells such as capillary end...
  • Signaling by PTK6, organism-specific biosystem (from REACTOME)
    Signaling by PTK6, organism-specific biosystemPTK6 (BRK) is an oncogenic non-receptor tyrosine kinase that functions downstream of ERBB2 (HER2) (Xiang et al. 2008, Peng et al. 2015) and other receptor tyrosine kinases, such as EGFR (Kamalati et ...
  • Signaling by RAS mutants, organism-specific biosystem (from REACTOME)
    Signaling by RAS mutants, organism-specific biosystemMembers of the RAS gene family were the first oncogenes to be identified, and mutations in RAS are present in ~20-30% of human cancers (reviewed in Prior et al, 2012). Mutations in the KRAS gene are ...
  • Signaling by SCF-KIT, organism-specific biosystem (from REACTOME)
    Signaling by SCF-KIT, organism-specific biosystemStem cell factor (SCF) is a growth factor with membrane bound and soluble forms. It is expressed by fibroblasts and endothelial cells throughout the body, promoting proliferation, migration, survival...
  • Signaling by Type 1 Insulin-like Growth Factor 1 Receptor (IGF1R), organism-specific biosystem (from REACTOME)
    Signaling by Type 1 Insulin-like Growth Factor 1 Receptor (IGF1R), organism-specific biosystemBinding of IGF1 (IGF-I) or IGF2 (IGF-II) to the extracellular alpha peptides of the type 1 insulin-like growth factor receptor (IGF1R) triggers the activation of two major signaling pathways: the SOS...
  • Signaling by VEGF, organism-specific biosystem (from REACTOME)
    Signaling by VEGF, organism-specific biosystemIn normal development vascular endothelial growth factors (VEGFs) are crucial regulators of vascular development during embryogenesis (vasculogenesis) and blood-vessel formation in the adult (angioge...
  • Signaling events mediated by focal adhesion kinase, organism-specific biosystem (from Pathway Interaction Database)
    Signaling events mediated by focal adhesion kinase, organism-specific biosystem
    Signaling events mediated by focal adhesion kinase
  • Signaling events regulated by Ret tyrosine kinase, organism-specific biosystem (from Pathway Interaction Database)
    Signaling events regulated by Ret tyrosine kinase, organism-specific biosystem
    Signaling events regulated by Ret tyrosine kinase
  • Signaling of Hepatocyte Growth Factor Receptor, organism-specific biosystem (from WikiPathways)
    Signaling of Hepatocyte Growth Factor Receptor, organism-specific biosystem
    Signaling of Hepatocyte Growth Factor Receptor
  • Signalling by NGF, organism-specific biosystem (from REACTOME)
    Signalling by NGF, organism-specific biosystemNeurotrophins (NGF, BDNF, NT-3, NT-4/5) play pivotal roles in survival, differentiation, and plasticity of neurons in the peripheral and central nervous system. They are produced, and secreted in mi...
  • Signalling to ERKs, organism-specific biosystem (from REACTOME)
    Signalling to ERKs, organism-specific biosystemNeurotrophins utilize multiple pathways to activate ERKs (ERK1 and ERK2), a subgroup of the large MAP kinase (MAPK) family, from the plasma membrane. The major signalling pathways to ERKs are via RAS...
  • Signalling to RAS, organism-specific biosystem (from REACTOME)
    Signalling to RAS, organism-specific biosystemSignalling through Shc adaptor proteins appears to be identical for both NGF and EGF. It leads to a fast, but transient, MAPK/ERK activation, which is insufficient to explain the prolonged activation...
  • Signalling to p38 via RIT and RIN, organism-specific biosystem (from REACTOME)
    Signalling to p38 via RIT and RIN, organism-specific biosystemRIT and RIN are two small guanine nucleotide binding proteins that share more than 50% sequence identity with RAS, including highly conserved core effector domains. Unlike RAS, the C termini of RIT a...
  • Syndecan-2-mediated signaling events, organism-specific biosystem (from Pathway Interaction Database)
    Syndecan-2-mediated signaling events, organism-specific biosystem
    Syndecan-2-mediated signaling events
  • T-Cell Receptor and Co-stimulatory Signaling, organism-specific biosystem (from WikiPathways)
    T-Cell Receptor and Co-stimulatory Signaling, organism-specific biosystemThe activation and translocation of transcription factors NFAT, AP-1 and NF-kappa-B via the co-stimulatory signaling cascade triggered by MHC peptide, B7 proteins and PD-L1. The activation of NFAT in...
  • VEGFA-VEGFR2 Pathway, organism-specific biosystem (from REACTOME)
    VEGFA-VEGFR2 Pathway, organism-specific biosystemAngiogenesis is the formation of new blood vessels from preexisting vasculature. One of the most important proangiogenic factors is vascular endothelial growth factor (VEGF). VEGF exerts its biologic...
  • VEGFR1 specific signals, organism-specific biosystem (from Pathway Interaction Database)
    VEGFR1 specific signals, organism-specific biosystem
    VEGFR1 specific signals
  • VEGFR2 mediated cell proliferation, organism-specific biosystem (from REACTOME)
    VEGFR2 mediated cell proliferation, organism-specific biosystemVEGFR2 stimulates ERK not via GRB2-SOS-RAS, but via pY1175-dependent phosphorylation of PLC gamma and subsequent activation of PKCs. PKC plays an important mediatory role in the proliferative Ras/Raf...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • DKFZp434N071

Gene Ontology Provided by GOA

Function Evidence Code Pubs
GTPase activator activity EXP
Inferred from Experiment
more info
PubMed 
GTPase activity TAS
Traceable Author Statement
more info
 
GTPase binding IPI
Inferred from Physical Interaction
more info
PubMed 
phosphotyrosine residue binding IPI
Inferred from Physical Interaction
more info
PubMed 
potassium channel inhibitor activity NAS
Non-traceable Author Statement
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
signaling receptor binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
MAPK cascade TAS
Traceable Author Statement
more info
 
blood vessel morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
ephrin receptor signaling pathway TAS
Traceable Author Statement
more info
 
intracellular signal transduction NAS
Non-traceable Author Statement
more info
PubMed 
mitotic cytokinesis ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of apoptotic process IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of cell adhesion IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of cell-matrix adhesion IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of neuron apoptotic process ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of GTPase activity IEA
Inferred from Electronic Annotation
more info
 
regulation of RNA metabolic process NAS
Non-traceable Author Statement
more info
PubMed 
regulation of actin filament polymerization IDA
Inferred from Direct Assay
more info
PubMed 
regulation of cell shape NAS
Non-traceable Author Statement
more info
PubMed 
signal transduction IDA
Inferred from Direct Assay
more info
PubMed 
vasculogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
cytoplasm NAS
Non-traceable Author Statement
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
ruffle IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
ras GTPase-activating protein 1
Names
RAS p21 protein activator (GTPase activating protein) 1
p120 RAS GTPase activating protein
triphosphatase-activating protein

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_011650.1 RefSeqGene

    Range
    4920..128593
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_002890.2NP_002881.1  ras GTPase-activating protein 1 isoform 1

    See identical proteins and their annotated locations for NP_002881.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) lacks the alternatively spliced insert found in variant 2, resulting in translation of the longer isoform (1).
    Source sequence(s)
    AB209106, CF528258, M23379
    Consensus CDS
    CCDS34200.1
    UniProtKB/Swiss-Prot
    P20936
    UniProtKB/TrEMBL
    Q59GK3
    Related
    ENSP00000274376.6, OTTHUMP00000222390, ENST00000274376.10, OTTHUMT00000369729
    Conserved Domains (6) summary
    cd08400
    Location:591716
    C2_Ras_p21A1; C2 domain present in RAS p21 protein activator 1 (RasA1)
    cd10353
    Location:161264
    SH2_Nterm_RasGAP; N-terminal Src homology 2 (SH2) domain found in Ras GTPase-activating protein 1 (GAP)
    cd10354
    Location:350426
    SH2_Cterm_RasGAP; C-terminal Src homology 2 (SH2) domain found in Ras GTPase-activating protein 1 (GAP)
    cd11788
    Location:281339
    SH3_RasGAP; Src Homology 3 domain of Ras GTPase-Activating Protein 1
    cd05391
    Location:7141045
    RasGAP_p120GAP; Ras-GTPase Activating Domain of p120
    cd13260
    Location:489576
    PH_RASA1; RAS p21 protein activator (GTPase activating protein) 1 Pleckstrin homology (PH) domain
  2. NM_022650.2NP_072179.1  ras GTPase-activating protein 1 isoform 2

    See identical proteins and their annotated locations for NP_072179.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) includes an alternatively spliced exon in the 5' portion of the transcript, allowing for translation from an alternative initiation codon and resulting in the shorter isoform (2) which is missing the hydrophobic amino terminus found in isoform 1.
    Source sequence(s)
    CF528258, DA863496, M23612
    Consensus CDS
    CCDS47243.1
    UniProtKB/Swiss-Prot
    P20936
    Related
    ENSP00000411221.2, OTTHUMP00000222391, ENST00000456692.6, OTTHUMT00000369730
    Conserved Domains (6) summary
    cd08400
    Location:414539
    C2_Ras_p21A1; C2 domain present in RAS p21 protein activator 1 (RasA1)
    cd10354
    Location:173249
    SH2_Cterm_RasGAP; C-terminal Src homology 2 (SH2) domain found in Ras GTPase-activating protein 1 (GAP)
    cd11788
    Location:104162
    SH3_RasGAP; Src Homology 3 domain of Ras GTPase-Activating Protein 1
    cd05391
    Location:537868
    RasGAP_p120GAP; Ras-GTPase Activating Domain of p120
    cl15255
    Location:487
    SH2; Src homology 2 (SH2) domain
    cl17171
    Location:312399
    PH-like; Pleckstrin homology-like domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p12 Primary Assembly

    Range
    87267845..87391926
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011543527.3XP_011541829.1  ras GTPase-activating protein 1 isoform X2

    Related
    ENSP00000423395.2, OTTHUMP00000222394, ENST00000515800.6
    Conserved Domains (4) summary
    cd10353
    Location:161264
    SH2_Nterm_RasGAP; N-terminal Src homology 2 (SH2) domain found in Ras GTPase-activating protein 1 (GAP)
    cd10354
    Location:350426
    SH2_Cterm_RasGAP; C-terminal Src homology 2 (SH2) domain found in Ras GTPase-activating protein 1 (GAP)
    cd11788
    Location:281339
    SH3_RasGAP; Src Homology 3 domain of Ras GTPase-Activating Protein 1
    cl17171
    Location:489536
    PH-like; Pleckstrin homology-like domain
  2. XM_011543525.2XP_011541827.1  ras GTPase-activating protein 1 isoform X1

    Conserved Domains (8) summary
    cd08400
    Location:591716
    C2_Ras_p21A1; C2 domain present in RAS p21 protein activator 1 (RasA1)
    cd10353
    Location:161264
    SH2_Nterm_RasGAP; N-terminal Src homology 2 (SH2) domain found in Ras GTPase-activating protein 1 (GAP)
    cd10354
    Location:350426
    SH2_Cterm_RasGAP; C-terminal Src homology 2 (SH2) domain found in Ras GTPase-activating protein 1 (GAP)
    cd11788
    Location:281339
    SH3_RasGAP; Src Homology 3 domain of Ras GTPase-Activating Protein 1
    cd05391
    Location:7141016
    RasGAP_p120GAP; Ras-GTPase Activating Domain of p120
    smart00323
    Location:6981015
    RasGAP; GTPase-activator protein for Ras-like GTPases
    cd13260
    Location:489576
    PH_RASA1; RAS p21 protein activator (GTPase activating protein) 1 Pleckstrin homology (PH) domain
    pfam00169
    Location:489576
    PH; PH domain
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