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RASA1 Gene

protein-coding   GIFtS: 71

GC05P086599
RAS p21 protein activator (GTPase activating protein) 1
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
(Previous symbol: RASA)
Services    
(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
About This Section

Aliases
CM-AVM 1, 2
CMAVM 2, 5
DKFZp434N071 2
GAP 1, 2, 3, 5
PKWS 2, 5
RASA 2, 3
RASGAP 2
RasGAP 3
p120GAP 1, 2, 3
p120RASGAP 1, 2
Descriptions
GTPase-activating protein 3
RAS p21 protein activator (GTPase activating protein) 1 2
RAS p21 protein activator 1 2
Ras p21 protein activator 3
triphosphatase-activating protein 2
External Ids
HGNC: 98711
Entrez Gene: 59212
UniProtKB: P209363
Ensembl: ENSG000001457157
Search outside databases for aliases for RASA1 gene

Previous GC identifers: GC05P085479 GC05P086779 GC05P086602 GC05P086648

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

EntrezGene summary for RASA1:
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.
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]

UniProtKB/Swiss-Prot: RASA1_HUMAN, P20936
Function: Inhibitory regulator of the Ras-cyclic AMP pathway. Stimulates the GTPase of normal but
not oncogenic Ras p21

Gene Wiki entry for RASA1 (RAS_p21_protein_activator_1)

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
About This Section

Genomic View:
UCSC Golden Path with GeneCards custom track

 Transcription factor binding sites upstream to the RASA1 gene  

Entrez Gene cytogenetic band: 5q13.3   Ensembl cytogenetic band:  5q14.3   HGNC cytogenetic band: 5q13

RASA1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)

GeneLoc gene densities for chromosome 5         GeneLoc Exon Structure

GeneLoc location for GC05P086599:     (about GC identifiers)

Start:
86,599,838 bp from pter
End:
86,723,489 bp from pter
Size:
123,652 bases
Orientation:
plus strand
RefSeq DNA sequence:
NC_000005.8  NT_006713.14  
(According to 1UniProtKB, and/or Ensembl, Phosphorylation sites according to 2Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
About This Section

UniProtKB/Swiss-Prot: RASA1_HUMAN, P20936 (See protein sequence)
Recommended Name: Ras GTPase-activating protein 1  
Size: 1047 amino acids; 116403 Da
Subunit: Interacts with SQTSM1. Interacts with SPSB1. Interaction with SPSB1 does not promote
degradation
Subcellular location: Cytoplasm
PDB structures from and Proteopedia :
1WER (3D)    1WQ1 (3D)    2GQI (3D)    2GSB (3D)    2J05 (3D)    2J06 (3D)    
Secondary accessions: B2R6W3
Alternative splicing: 2 isoforms:  P20936-1   P20936-2   

Post-translational modifications:

  • The N-terminus is blocked1
  • View phosphorylation sites using PhosphoSite2


  • REFSEQ proteins (2 alternative transcripts): 
    NP_002881.1  NP_072179.1  


    ENSEMBL proteins: 
    ENSP00000373926 ENSP00000274376 


    Human Recombinant Proteins 
    Browse Drug Discovery Central at Invitrogen for human recombinant proteins
    Browse Purified and Recombinant Proteins at Millipore
    Browse Human Recombinant Proteins at Sigma-Aldrich  
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Recombinant Proteins from Abcam (GAP)
    Human Recombinant Proteins from Abnova (RASA1)
                    Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 

    4 Gene Ontology (GO) cellular component terms (links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001726 ruffle IEA--
    GO:0005622 intracellular IEA--
    GO:0005737 cytoplasm NAS2821624
    GO:0005886 plasma membrane IEA--
    About this table

    Antibodies for RASA1: 
    Browse Antibodies Central at Invitrogen
    Millipore Mono- and Polyclonal Antibodies for the study of RASA1
    Sigma-Aldrich Antibodies for RASA1
    R&D Systems Antibodies for RASA1 (Ras-GAP)
    Antibodies from Abcam (GAP), each with their AbpromiseSM
    Monoclonal and Polyclonal Antibodies from Abnova (RASA1)
    Novus Biologicals Antibodies for RASA1

    Assays for RASA1: 
    Browse Invitrogen for biochemical assays
    Browse Kits and Assays available from Millipore
    Browse R&D Systems for biochemical assays
    Browse biochemical assays available from Enzo Life Sciences

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    5/7 InterPro domains/families (see all 7 ):
     IPR001936 RasGAP
     IPR001849 Pleckstrin_homology
     IPR001452 SH3_domain
     IPR018029 C2_membr_targeting
     IPR011993 PH_type


       GeneDecks  RASA1 for the domains selected above  
    About GeneDecksing

    Graphical View of Domain Structure for InterPro Entry P20936

    ProtoNet protein and cluster: P20936

    5 Blocks protein families:
    IPB000008 C2 domain
    IPB000980 SH2 domain signature
    IPB001452 SH3 domain signature
    IPB001849 Pleckstrin-like
    IPB001936 Ras GTPase-activating protein


    UniProtKB/Swiss-Prot: RASA1_HUMAN, P20936
    Similarity: Contains 1 C2 domain
    Similarity: Contains 1 PH domain
    Similarity: Contains 1 Ras-GAP domain
    Similarity: Contains 2 SH2 domains
    Similarity: Contains 1 SH3 domain

    (According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
    shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
    RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
    About This Section

    Inhib.
    RNA:
    Invitrogen RNAi Products for gene knock-down (RASA1)
    Browse for Gene Knock-down Tools from Millipore
    Abnova Chimera RNAi Products for Gene knock-down (RASA1)
                   OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2): NM_002890

                  Applied Biosystems Silencer® siRNAs for RASA1

                  Sigma-Aldrich siRNA and siRNA Panels for RASA1  
                         Sigma-Aldrich shRNA Panels and shRNA for RASA1  
                         Explore Sigma-Aldrich super-pooled esiRNAs  

    Clones:Browse Clone Ranger at Invitrogen for clones
    Browse Clones for the Expression of Recombinant Proteins Available from Millipore
                   OriGene GFP tagged cDNA clones in CMV expression vector (see all 2): NM_002890
                                     Myc/DDK tagged cDNA clones in CMV expression vector (see all 2): NM_002890
                                     untagged cDNA clones in CMV expression vector (see all 2): NM_002890 

    Primers: Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers
                  OriGene genome-wide validated SYBR primer pairs: NM_002890

    UniProtKB/Swiss-Prot: RASA1_HUMAN, P20936
    Function: Inhibitory regulator of the Ras-cyclic AMP pathway. Stimulates the GTPase of normal but
    not oncogenic Ras p21

    Genatlas biochemistry entry for RASA1:
    Ras-p21 GTPase-activating protein,120kDa,GAP,involved in normal blood vessel development

    10 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Rasa1):

    cellularcraniofacialembryogenesisgrowth/size
    hearing/vestibular/earlethality-prenatal/perinatallimbs/digits/tailnervous systemno phenotypic analysis

    4 Gene Ontology (GO) molecular function terms (links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005099 Ras GTPase activator activity TAS2188736
    GO:0005102 receptor binding IPI2157284 2176151
    GO:0019870 potassium channel inhibitor activity NAS1553544
    GO:0051020 GTPase binding IPI2122974
    About this table

    (Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
    Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to 1UniProtKB, 2MINT, and/or 3STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
    About This Section

    5/11 Invitrogen iPath™ Online BioAtlas - Pathways for RASA1 (see all 11 ) (Maps provided by GeneGo):
     EGF signaling pathway
     Angiopoietin - Tie2 signaling
     Rap1A regulation pathway
     VEGF signaling and activation
     Signaling pathways for GDNF

       GeneDecks  RASA1 for the pathways selected above  
    About GeneDecksing

    5/15 Millipore Pathways for RASA1 (see all 15 )
     G-protein signaling Regulation of CDC42 activity
     Development Angiopoietin - Tie2 signaling
     Development VEGF signaling and activation
     Chemotaxis CXCR4 signaling pathway
     G-protein signaling M-RAS regulation pathway

       GeneDecks  RASA1 for the pathways selected above  
    About GeneDecksing

    5/10 Sigma-Aldrich "Your Favorite Gene" Pathways for  RASA1  (Your Favorite Gene powered by Ingenuity) (see all 10
     PDGF Signaling
     Angiopoietin Signaling
     Huntington's Disease Signaling
     IGF-1 Signaling
     Axonal Guidance Signaling

       GeneDecks  RASA1 for the pathways selected above  
    About GeneDecksing

    2 Cell Signaling Technology (CST) Pathways for RASA1: 
     B Cell Receptor Signaling
     Jak/Stat Signaling: IL-6 Receptor Family

       GeneDecks  RASA1 for the pathways selected above  
    About GeneDecksing

    2 Kegg Pathways  (Kegg details for RASA1):
     hsa04010 MAPK signaling pathway
     hsa04360 Axon guidance

       GeneDecks  RASA1 for the pathways selected above  
    About GeneDecksing
     Gene Network CentralTM Interacting Genes and Proteins Network for  RASA1 


    5/6 Interacting proteins for RASA1 (P209361, 2) via UniProtKB, MINT, and/or STRING (see all 6 )
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HRASP011121EBI-1026476, EBI-350145
    EGFRP005332MINT-74692 MINT-74711 MINT-74695 MINT-74710 MINT-74693 MINT-74694 MINT-74696
    ERBB2P046262MINT-74698 MINT-74702 MINT-74697 MINT-74701 MINT-74699 MINT-74712 MINT-74700
    ERBB3P218602MINT-74704 MINT-74708 MINT-74705 MINT-74707 MINT-74703 MINT-74706
    ERBB4Q153032MINT-74709
    About this table

    5/12 Gene Ontology (GO) biological process terms (links to tree view) (see all 12 ):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000910 cytokinesis ISS--
    GO:0001570 vasculogenesis ISS--
    GO:0001953 negative regulation of cell-matrix adhesion IDA8344248
    GO:0007162 negative regulation of cell adhesion IDA8344248
    GO:0007242 intracellular signaling cascade NAS1581965
    About this table
    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
    About This Section

    Enzo Life Sciences drugs & compounds for RASA1
    Browse Small Molecules at Sigma-Aldrich

    Browse Tocris compounds for RASA1
    9 Novoseek chemical compound relationships for RASA1 gene
    Compound   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
    gtp 73.32 21 9312123 (3), 8262937 (2), 7492562 (1), 8607981 (1) (see all 15)
    tyrosine 69.64 76 10567236 (5), 10688886 (4), 8408058 (3), 15030317 (2) (see all 39)
    gdp 58.93 5 17052120 (1), 8909796 (1), 9312123 (1), 15774489 (1)
    phosphotyrosine 53.97 3 15030317 (1), 10391888 (1)
    phosphatidylinositol 27.30 4 1328986 (1), 7898923 (1), 15763428 (1), 8816504 (1)
    guanosine 13.41 2 9731575 (1)
    phenylalanine 0.00 1 8408058 (1)
    calcium 0.00 4 7898923 (2), 13130503 (1)
    arachidonic acid 0.00 1 8576154 (1)
    About this table


    (GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView,
    non coding RNAs according to RNAdb,
    ESTs according to GeneTide,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from Invitrogen, Millipore, and/or Abnova,
    siRNAs from Applied Biosystems, Sigma-Aldrich,
    shRNA from Sigma-Aldrich, OriGene,
    Tagged/untagged cDNA clones from OriGene,
    Expression Assays from Applied Biosystems)
    About This Section

    Inhib.
    RNA:
    Invitrogen RNAi Products for gene knock-down (RASA1)
    Browse for Gene Knock-down Tools from Millipore
    Abnova Chimera RNAi Products for Gene knock-down (RASA1)
                   OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2): NM_002890

                  Sigma-Aldrich siRNA and siRNA Panels for RASA1  
                         Sigma-Aldrich shRNA Panels and shRNA for RASA1  
                         Explore Sigma-Aldrich super-pooled esiRNAs  

    Applied Biosystems Silencer® siRNAs: 

    NM_002890  NM_022650  

    REFSEQ mRNAs for RASA1 gene (2 alternative transcripts): 

    NM_002890.1   NM_022650.1   

    Applied Biosystems TaqMan ® Gene Expression Assays: 

    NM_002890  NM_022650  

                   OriGene GFP tagged cDNA clones in CMV expression vector (see all 2): NM_002890
                                     Myc/DDK tagged cDNA clones in CMV expression vector (see all 2): NM_002890
                                     untagged cDNA clones in CMV expression vector (see all 2): NM_002890 

    Additional cDNA sequence: 

    AB209106.1 AK300263.1 AK300269.1 AK300406.1 AK312739.1 BC020761.1 BC033015.2 BC054891.1 
    BC070063.1 BC107870.1 BC131816.1 CR749722.1 M23379.1 M23612.1 

    24/40 DOTS entries (see all 40 ):

    DT.92454258  DT.100833161  DT.92454256  DT.92454259  DT.100689204  DT.120829242  DT.421222  DT.40260770 
    DT.40226058  DT.75191555  DT.92454254  DT.97827247  DT.95186287  DT.436627  DT.97820076  DT.91657462 
    DT.95186278  DT.40125559  DT.75146302  DT.120829324  DT.202851  DT.40198236  DT.40299930  DT.95186275 

    24/282 AceView cDNA sequences (see all 282 ):

    AU137822 N77649 AA363601 AU136635 CF528258 AU136375 AA251808 NM_002890 
    BX503514 CD172265 AU138673 BQ232939 AU136583 BE501681 BC070063 AI611854 
    AU135896 AL044995 BQ007115 BM906274 AU139436 BM846040 R71077 BX475533 

    highest scoring ESTs for RASA1:

    M23379 AA040060 AA040093 AA084398 AA167370 AA251808 AA737694 AA742586 AA873142 AI095841 

    Unigene Cluster for RASA1:

    RAS p21 protein activator (GTPase activating protein) 1
    Hs.664080  [show with all ESTs]
    Unigene Representative Sequence: CR749722


    GeneLoc Exon Structure

    5/11 Alternative Splicing Database (ASD) splice patterns (SP) for RASA1 (see all 11 )

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9a · 9b ^ 10a · 10b ^ 11a · 11b ^ 12a · 12b ^ 13 ^ 14a · 14b ^ 15 ^ 16 ^ 17a · 17b ^ 18a · 18b ^ 19 ^
    SP1:                                                                                                                                                            
    SP2:                                                                                                                                                            
    SP3:                                                                                                                                                            
    SP4:                                                                                                                                                            
    SP5:                                                                                                                                                            

    ExUns: 20 ^ 21 ^ 22 ^ 23a · 23b · 23c
    SP1:                                    
    SP2:                                    
    SP3:                                    
    SP4:                                    
    SP5:                                    

    About this scheme

    ECgene alternative splicing isoforms for RASA1

    2 Ensembl transcripts including schematic representations:
    ENST00000389275  ENST00000274376  
    (Experimental results according to 1GeneNote and GNF BioGPS,
    probe sets-to-genes annotations according to 2GeneAnnot , 3GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
    Expression Assays from Applied Biosystems )
    About This Section

    RASA1 expression in normal and diseased human tissues

     Applied Biosystems TaqMan ® Gene Expression Assays for RASA1

    1 / 2 / 3

    6 probe-sets matching RASA1 gene


    Affymetrix
    probe-set
    Array  GeneAnnot data GeneNote data GeneTide data
    # genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank

    36935_at2, 3 U95-A 1 1.00 1.00 0.96 0.96 M23379 1.00 1.00 1.00 1

    1675_at2, 3 U95-A 1 1.00 1.00 0.94 1.04 M23379 1.00 1.00 1.00 1

    210621_s_at2, 3 U133-A 1 1.00 1.00 -- -- M23612 0.80 1.00 0.91 1

    202677_at2, 3 U133-A 1 1.00 1.00 -- -- NM_002890 0.60 1.00 0.82 1

    210621_s_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --

    202677_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --
    About this table
    Data from (Publications) and GNF BioGPS
        About these images
    About these images

    CGAP SAGE TAG: TTACCCATTC

    SOURCE GeneReport for Unigene cluster: Hs.664080

    Expression variation in blood from EXPOLDB for RASA1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD and/or 5MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
    About This Section


    Orthologs for RASA1 gene from 5/12 species (see all 12 )
    Organism Gene Locus Description Human
    Similarity
    NCBI accessions
    dog
    (Canis familiaris)
    RASA11   -- RAS p21 protein activator (GTPase activating protein) more 92.6(n)
    95.99(a)
    479158  XM_536302.2  XP_536302.2 
    chimpanzee
    (Pan troglodytes)
    RASA11   -- RAS p21 protein activator (GTPase activating protein) more 99.68(n)
    99.71(a)
    461762  XM_517663.2  XP_517663.2 
    cow
    (Bos taurus)
    RASA11   -- RAS p21 protein activator (GTPase activating protein) more 93.19(n)
    96.07(a)
    282032  NM_174449.2  NP_776874.1 
    rat
    (Rattus norvegicus)
    Rasa11   -- RAS p21 protein activator (GTPase activating protein) more 91.91(n)
    96.05(a)
    25676  NM_013135.1  NP_037267.1 
    mouse
    (Mus musculus)
    Rasa11, 5 13 (47.00 cM)5
    RAS p21 protein activator 11, 5 93.77(n)1
    98.89(a)1
    2183971  NM_145452.21  NP_663427.11 
     AA1205025  AA1249245  (see all 22)
    About this table        Species with no ortholog for RASA1

    ENSEMBL Gene Tree for RASA1
    (Paralogs according to 1HomoloGene
    and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
    About This Section

    Paralogs for RASA1 gene
    RASA22  RASA32  

    (According to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
    About This Section


    10/376 NCBI SNPs in RASA1 are shown (see all 376 )
    (Click for Applied Biosystems TaqMan ® Genotyping Assay)  (see all 134)
    ABGenomic DataTranscription DataAllele Frequencies
    SNP IDValidChr 5 posSequenceRecsAA
    Chg
    TypeMoreRecsAllele
    freq
    PopTotal
    sample
    More
    ------------
    rs119555281,2
    C,F,H86598446(+) GGAAGC/TTCCCT 1 -- ng514Minor allele frequency- T:0.01EU EA WA 418
    rs168766841,2
    F,H86599726(+) AGTTTT/GCGCTT 2 -- ng517Minor allele frequency- G:0.04NA EU EA WA 562
    --
    rs68792931,2
    A86723879(+) GCTTAA/GTAGTT 2 -- ng310--------
    rs38069341,2
    H86599310(+) TCCCTC/GTGGAC 2 -- ng51 trp34Minor allele frequency- G:0.00EU EA WA 418
    rs38069351,2
    H86599707(+) CTCTTT/CAGTGC 2 -- ng51 ese3 trp34Minor allele frequency- C:0.00EU EA WA 418
    rs37477041,2
    F86722379(+) ACGTAT/CTGAAA 2 L/L syn11Minor allele frequency- C:0.01EA 1496
    rs109425031,2
    A,C,F,H86716684(+) TTTAAT/CTCAAG 2 -- int17Minor allele frequency- C:0.07NA EU EA WA 560
    rs133624861,2
    A,C,F,H86639581(+) TCTTTC/ACTTAG 2 -- int18Minor allele frequency- A:0.42EU EA WA NA 632
    rs117453381,2
    A,C,F,H86656288(+) GAATAC/GCTAAT 2 -- int112Minor allele frequency- N:0.01EA NA EU WA 1022
    rs100591021,2
    A,C,F,H86624084(+) tgttcT/Cgttcc 2 -- int18Minor allele frequency- C:0.36EU EA WA 838
    About this table

    HapMap Linkage Disequilibrium images for RASA1 (up to first 250kb)

    (in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
    About This Section

    OMIM: 139150

    UniProtKB/Swiss-Prot: RASA1_HUMAN, P20936

  • Mutations in the SH2 domain of RASA seem to be oncogenic and cause basal cell carcinomas
  • Defects in RASA1 are the cause of capillary malformation-arteriovenous malformation
    (CMAVM) [MIM:608354]. CMAVM is a disorder characterized by atypical capillary malformations that
    are multiple, small, round to oval in shape and pinkish red in color. These capillary
    malformations are associated with either arteriovenous malformation, arteriovenous fistula, or
    Parkes Weber syndrome
  • Defects in RASA1 are a cause of Parkes Weber syndrome (PKWS) [MIM:608355]. PKWS is a
    disorder characterized by a cutaneous flush with underlying multiple micro-arteriovenous fistulas,
    in association with soft tissue and skeletal hypertrophy of the affected limb
  • 10/12 Novoseek disease relationships for RASA1 gene (see all 12 )

    Disease   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
    neurofibromatosis type 1 75.43 6 1620552 (1), 8246952 (1), 17096025 (1), 18218617 (1) (see all 6)
    trophoblastic tumor 48.60 4 7747802 (2), 8738474 (1)
    myeloid leukemia chronic 38.83 1 1571536 (1)
    neurofibromatosis 38.37 2 1904555 (2)
    choriocarcinoma 28.32 2 7747802 (1)
    multiple tumors 23.92 1 9521474 (1)
    tumors 14.34 20 9521474 (3), 8738474 (3), 17096025 (1), 1368795 (1) (see all 13)
    carcinoma basal cell 5.32 2 9521474 (1), 8738474 (1)
    necrosis 4.36 1 17389591 (1)
    cancer 0.00 1 17096025 (1)
    About this table

    1 PharmGKB disease relationship for RASA1 gene
    Disease PharmGKB Relations PubMed IDs for articles supporting these relationships
    Leukemia, Lymphocytic, Acute, L1FA  GN  12086872
    About this table

    Human Gene Mutation Database: RASA1
    Human Genome Epidemiology Navigator: RASA1 (3 documents)

    (Possibly Related Articles in Doctor's Guide)
    About This Section

      --

    (in PubMed. Associations of this gene to articles via 1Novoseek, 2HGNC, 3Entrez Gene, 4UniProtKB/Swiss-Prot, 5UniProtKB/TrEMBL, 6GAD, and/or 7PharmGKB)
    About This Section

    10/278 PubMed articles for RASA1 gene (see all 278 ):
    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)
    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, and/or H-InvDB)
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    Entrez Gene: 5921 HGNC: 9871 AceView: RASA1 Ensembl:ENSG00000145715 euGenes: HUgn5921
    ECgene: RASA1 H-InvDB: RASA1
    (According to HUGE)
    About This Section

      --
    (According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section

    NameDescription
    ATLAS Chromosomes in Cancer entry for RASA1 Genetics and Cytogenetics in Oncology and Haematology
    GeneReviewshttp://www.genetests.org/query?gene=RASA1
    (Available from WIS Yeda, Salk, Tufts)
    About This Section

      --
    (Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
    Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
    Enzo Life Sciences, and/or Tocris Bioscience)
    About This Section



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