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Aliases & Descriptions for RASA1
(According to
1 HGNC ,
2 Entrez Gene ,
3 UniProtKB/Swiss-Prot ,
4 UniProtKB/TrEMBL , 5 OMIM , 6 GeneLoc
, and/or 7 Ensembl ,
8 miRBase )About This Section
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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
Search outside databases for aliases for RASA1 genePrevious GC identifers: GC05P085479 GC05P086779 GC05P086602 GC05P086648
Summaries for RASA1 (According to Entrez Gene ,
Wikipedia's
Gene Wiki ,
UniProtKB/Swiss-Prot ,
and/or
UniProtKB/TrEMBL )
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EntrezGene summary for RASA1 : The protein encoded by this gene is located in the cytoplasm and is part of the GAP1 family ofGTPase-activating proteins. The gene product stimulates the GTPase activity of normal RAS p21 butnot its oncogenic counterpart. Acting as a suppressor of RAS function, the protein enhances theweak 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 tochanges 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-terminalhydrophobic region but retaining the same activity, appears to be abundantly expressed inplacental 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 butnot oncogenic Ras p21
Gene Wiki entry for RASA1 (RAS_p21_protein_activator_1)
Genomic Location for RASA1
(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
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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 Proteins for RASA1
(According to
1 UniProtKB ,
and/or Ensembl ,
Phosphorylation sites according to 2 Phosphosite ,
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 )
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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 promotedegradation
Subcellular location : Cytoplasm
PDB structures from and Proteopedia : 1WER (3D)
 1WQ1 (3D)
 2GQI (3D)
 2GSB (3D)
 2J05 (3D)
 2J06 (3D)
 
Secondary accessions : B2R6W3Alternative splicing : 2 isoforms : P20936-1 P20936-2
Post-translational modifications:
The N-terminus is blocked1
View phosphorylation sites using PhosphoSite 2
REFSEQ proteins (2 alternative transcripts):
NP_002881.1 NP_072179.1 ENSEMBL proteins: ENSP00000373926 ENSP00000274376 Human Recombinant Proteins Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 4 Gene Ontology (GO) cellular component terms (links to tree view) :
About this table Antibodies for RASA1: Assays for RASA1:
Protein
Domains/ Families for RASA1(According to InterPro , ProtoNet ,
UniProtKB , and/or BLOCKS ,
Sets of similar genes according to GeneDecks )
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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 domainSimilarity : Contains 1 PH domainSimilarity : Contains 1 Ras-GAP domainSimilarity : Contains 2 SH2 domainsSimilarity : Contains 1 SH3 domain
Gene Function for RASA1
(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 .)
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               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                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 butnot 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) :4 Gene Ontology (GO) molecular function terms (links to tree view) :
About this table
Pathways & Interactions for RASA1
(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 1 UniProtKB ,
2 MINT , and/or
3 STRING ,
with links to IntAct and
Ensembl ,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene .)
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5/10 Sigma-Aldrich "Your Favorite Gene" Pathways for RASA1 (Your Favorite Gene powered by Ingenuity) (see all 10
) Gene Network CentralTM Interacting Genes and Proteins Network for RASA1 5/6 Interacting proteins for RASA1 (P20936 1 , 2 ) via UniProtKB, MINT, and/or STRING (see all 6
)About this table 5/12 Gene Ontology (GO) biological process terms (links to tree view) (see all 12
):
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Drugs & Compounds for RASA1 (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 )
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Enzo Life Sciences drugs & compounds for RASA1
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
Transcripts for RASA1(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 ,
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               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
Expression for RASA1
(Experimental results according to
1 GeneNote
and GNF BioGPS ,
probe sets-to-genes annotations according to
2 GeneAnnot ,
3 GeneTide ,
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
)
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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 Data from
(Publications) and GNF BioGPS About these images About these images CGAP SAGE TAG: TTACCCATTCSOURCE GeneReport for Unigene cluster: Hs.664080 Expression variation in blood from EXPOLDB for RASA1
Orthologs for RASA1
(Orthologs according to
1,2 HomoloGene (2 older version, for species not in 1 newer version),
3 euGenes ,
4 SGD
and/or
5 MGI Jun 06 2009,
with possible further links to
Flybase
and/or
WormBase ,
Gene Trees according to Ensembl )
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Orthologs for RASA1 gene from 5/12 species (see all 12
)
About this table Species with no ortholog for RASA1 ENSEMBL Gene Tree for RASA1 Paralogs for RASA1 (Paralogs according to 1 HomoloGene and 2 Ensembl , Pseudogenes according to 3 Pseudogene.org )About This Section
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Paralogs for RASA1 gene RASA2 2 RASA3 2
SNPs/Variants for RASA1 (According to the
1 NCBI SNP Database ,
2 Ensembl ,
3 PupaSUITE , and
UniProtKB ,
Linkage Disequilibrium by HapMap ,
Genotyping Reagents from
Applied Biosystems )
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HapMap Linkage Disequilibrium images for RASA1 (up to first 250kb)
Disorders & Mutations for RASA1
(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 .)
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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 thatare multiple, small, round to oval in shape and pinkish red in color. These capillarymalformations are associated with either arteriovenous malformation, arteriovenous fistula, orParkes Weber syndrome Defects in RASA1 are a cause of Parkes Weber syndrome (PKWS) [MIM:608355]. PKWS is adisorder 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
)
About this table 1 PharmGKB disease relationship for RASA1 gene About this table Human Gene Mutation Database : RASA1 Human Genome Epidemiology Navigator: RASA1 (3 documents)
Medical News for RASA1 (Possibly Related Articles in
Doctor's Guide )
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--
Publications for RASA1 (in
PubMed .
Associations of this gene to articles via
1 Novoseek ,
2 HGNC ,
3 Entrez Gene ,
4 UniProtKB/Swiss-Prot ,
5 UniProtKB/TrEMBL ,
6 GAD , and/or
7 PharmGKB )
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10/278 PubMed articles for RASA1 gene (see all 278
): Capillary malformation-arteriovenous malformation, a new clinical and genetic disorder caused by RASA1 mutations. (PubMed id 14639529) 1, 3, 4 Eerola I.... Vikkula M. (2003) Purification, characterization, and cellular localization of the 100- kDa human placental GTPase-activating protein. (PubMed id 8360177) 1, 3, 4 Zhang Y....Thane M.N. (1993) The SPRY domain-containing SOCS box protein 1 (SSB-1) interacts with MET and enhances the hepatocyte growth factor-induced Erk-Elk-1-serum response element pathway. (PubMed id 15713673) 3, 4 Wang D....Wu G. (2005) Immunoaffinity profiling of tyrosine phosphorylation in cancer cells. (PubMed id 15592455) 3, 4 Rush J.... Comb M.J. (2005) RASA1: variable phenotype with capillary and arteriovenous malformations. (PubMed id 15917201) 2, 3 Boon L.M....Vikkula M. (2005) The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334) 3, 4 Gerhard D.S....Malek J. (2004) The Ras-RasGAP complex: structural basis for GTPase activation and its loss in oncogenic Ras mutants. (PubMed id 9219684) 3, 4 Scheffzek K.... Wittinghofer A. (1997) Crystal structure of the GTPase-activating domain of human p120GAP and implications for the interaction with Ras. (PubMed id 8955277) 3, 4 Scheffzek K....Wittinghofer A. (1996) Phosphotyrosine-independent binding of a 62-kDa protein to the src homology 2 (SH2) domain of p56lck and its regulation by phosphorylation of Ser-59 in the lck unique N-terminal region. (PubMed id 8618896) 3, 4 Park I.... Shin J. (1995) Solution structure of GAP SH3 domain by 1H NMR and spatial arrangement of essential Ras signaling-involved sequence. (PubMed id 8137811) 3, 4 Yang Y.S.... Roques B.P. (1994)
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Genome Databases showing RASA1
(According to
Entrez Gene ,
HGNC ,
AceView ,
euGenes ,
Ensembl ,
miRBase ,
ECgene ,
and/or
H-InvDB )
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Other Databases showing RASA1
(According to HUGE )
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Specialized Databases showing RASA1 (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
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-- Services for RASA1 (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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Products for RASA1:
Recombinant Proteins (GAP ) Antibodies (GAP )
Search Tocris compounds for RASA1
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Aliases for RASA1
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GeneCards Homepage - Last full update: 2 Jul 2009
Incremental update: 13 Oct 2009