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FLASH GENE
Symbol RASA1 contributors: mct/npt/pgu - updated : 04-01-2014
HGNC name RAS p21 protein activator (GTPase activating protein) 1
HGNC id 9871
Corresponding disease
CPLM capillary malformation-arteriovenous malformation
Location 5q14.3      Physical location : 86.564.150 - 86.687.732
Synonym name
  • GTPase-activating protein
  • triphosphatase-activating protein
  • Synonym symbol(s) RAS-GAP, RASA, P120GAP, RSG1, RASGAP, GAP, PKWS, CM-AVM, CMAVM, p120RASGAP
    DNA
    TYPE functioning gene
    STRUCTURE 123.58 kb     25 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence Promoter
    cytosine-phosphate-guanine/HTF
    MAPPING cloned Y linked N status confirmed
    Physical map
    CKMT2 5q13.3 creatine kinase, mitochondrial 2 (sarcomeric) DKFZp761J139 5q14.1 hypothetical protein DKFZp761J139 CACH-1 5q14.1 cytosolic acetyl-CoA hydrolase SSBP2 5q14.1 single-stranded DNA binding protein 2 DSS1P1 5q14 single-stranded DNA binding protein 2 APG10L 5q14.1 APG10 autophagy 10-like (S. cerevisiae) PPIP1 5q14.1 peptidylprolyl isomerase (cyclophilin) pseudogene 1 RPS23 5q13-q14 ribosomal protein S23 LOC92270 5q14.1 hypothetical protein LOC92270 LOC389307 5 LOC389307 LOC391806 5 similar to heat shock 70kD protein binding protein; progesterone receptor-associated p48 protein; putative tumor suppressor ST13; Hsp70-interacting protein MGC23909 5q14.2 hypothetical protein MGC23909 XRCC4 5q11.2-q13.3 X-ray repair complementing defective repair in Chinese hamster cells 4 CSPG2 5q14.3 chondroitin sulfate proteoglycan 2 (versican) CRTL1 5q14.3 cartilage linking protein 1 EDIL3 5q14 EGF-like repeats and discoidin I-like domains 3 LOC391807 5 similar to peptidyl-Pro cis trans isomerase LOC391808 5 similar to ribosomal protein L5; 60S ribosomal protein L5 LOC391809 5 similar to 28 kDa heat- and acid-stable phosphoprotein (PDGF-associated protein) (PAP) (PDGFA-associated protein 1) (PAP1) MGC48637 5q14.3 hypothetical protein MGC48637 COX7C 5q14 cytochrome c oxidase subunit VIIc LOC389308 5 similar to ribosomal protein L10a FLJ11292 5q14.3 hypothetical protein FLJ11292 RASA1 5q13.3 RAS p21 protein activator (GTPase activating protein) 1 CCNH 5q13.3-q14 cyclin H MGC33214 5q14.3 hypothetical protein MGC33214 MEF2C 5q14 MADS box transcription enhancer factor 2, polypeptide C (myocyte enhancer factor 2C) CETN3 5q14.3 centrin, EF-hand protein, 3 (CDC31 homolog, yeast) LOC153364 5q14.3 similar to metallo-beta-lactamase superfamily protein like (XL884) RPC32 5q14.3 polymerase (RNA) III (DNA directed) (32kD) LOC116068 5q14.3 hypothetical protein LOC116068 MASS1 5q14.1 monogenic, audiogenic seizure susceptibility 1 homolog (mouse) LOC133790 5q14.3 similar to ribosomal protein S18, cytosolic [validated] - rat KIAA1376 LOC133789 5q14.3 similar to Rab5c protein LOC391810 5 similar to T-complex protein 1, eta subunit (TCP-1-eta) (CCT-eta) (HIV-1 Nef interacting protein) LOC391811 5 similar to DNA polymerase delta subunit 2
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    25 - 4307 120 1047 - 2009 19435801
    25 splicing 3757 100 870 - 2009 19435801
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Endocrinethyroid   highly
    Hearing/Equilibriumearinnercochlea highly
    Lymphoid/Immunelymph node   highly
    Nervousbrain   moderately
    Reproductivefemale systemplacenta  predominantly
     male systemtestis   
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Epithelialsecretoryglandularexocrine 
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period pregnancy
    Text placenta
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a pleckstrin (PH) homology domain
  • two SH2 domains
  • one SH3 domain
  • one RAS-GAP domain
  • a tandem C2 domains able to sense and induce membrane curvature by the insertion of hydrophobic loops into the membrane
  • HOMOLOGY
    interspecies homolog to murine Rasa1
    Homologene
    FAMILY GAP1 subfamily of Ras GTPase-activating proteins (RasGAPs)
    CATEGORY enzyme , protooncogene
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,cytosolic
    basic FUNCTION
  • reverts active GTP-bound Ras into inactive GDP-bound form
  • involved in normal blood vessel development and required for cardiovascular system development
  • important role for RASA1 as a regulator of double-positive survival and positive selection in the thymus as well as naive T cell survival in the periphery
  • important role for RASA1 in the recycling of endocytosed alpha/beta1-integrin heterodimers to the plasma membrane
  • Ras GTPase-activating protein that functions as a regulator of blood vessel growth in adult
  • role for RASA1 as a physiological negative regulator of lymphatic endothelial cells (LECs) growth that maintains the lymphatic vasculature in a quiescent functional state through its ability to inhibit RAS signal transduction
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
  • EPHB4/RASA1/MTOR signaling in endothelial cells promotes vascular malformation
  • a component
  • part of PTK2-RASA1-GRLF1 complex that regulates polarity in migrating cells
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • GNB2L1
  • association with GRLF1, through integrin signaling that activates GRLF1
  • interacts and extensively colocalizes with DLC1 in focal adhesions (negative regulator of DLC1 Rho-GAP activity)
  • NCK1 is the regulator of RASA1 activity
  • interacted with the cytoplasmic domain of integrin alpha-subunits via its GAP domain and competed with RAB21 for binding to endocytosed integrins
  • EPHA1 signal facilitates IGF1-induced myogenesis by suppressing the RAS-ERK1/2 cascade through RASA1 in myoblast cell lines
  • PTPN11 participates in GH-induced RAS/ERK1/2 activation by dephosphorylating GAB1 on its RASA1 binding sites
  • cell & other
    REGULATION
    Other regulated by PTK6 (modulates association of GRLF1 with RASA1)
    ASSOCIATED DISORDERS
    corresponding disease(s) CPLM
    Susceptibility to sporadic Sturge-Weber syndrome (SWS)
    Variant & Polymorphism other mutation (c.1229 G > A [p.K420K]) of RASA1 associated tosporadic Sturge-Weber syndrome (SWS)
    Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    cardiovascular  
    signaling pathways involving RASA1 might offer novel targets for treatment of high-flow vascular anomalies
    ANIMAL & CELL MODELS