RASA1 Gene
protein-coding GIFtS: 70
GCID: GC05P086565
|
|
RAS p21 protein activator (GTPase activating protein) 1
(Previous symbol: RASA)
| |
Aliases
for RASA1 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| RAS P21 Protein Activator (GTPase Activating Protein) 11 2 | | PKWS2 5 | | GAP1 2 3 5 | | RASGAP2 | | RASA1 2 3 | | Ras GTPase-Activating Protein 12 | | P120GAP1 | | Triphosphatase-Activating Protein2 | | CM-AVM1 2 | | RasGAP3 | | P120RASGAP1 | | GTPase-Activating Protein3 | | CMAVM2 5 | | Ras P21 Protein Activator3 |
Export aliases for RASA1 gene to outside databasesPrevious GC identifers: GC05P085479 GC05P086779 GC05P086602 GC05P086648 GC05P086599 GC05P081768 |
Summaries
for RASA1 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
Entrez Gene summary for RASA1:
The protein encoded by this gene is located in the cytoplasm and is part of the GAP1 family of GTPase-activatingproteins. The gene product stimulates the GTPase activity of normal RAS p21 but not its oncogenic counterpart. Actingas a suppressor of RAS function, the protein enhances the weak intrinsic GTPase activity of RAS proteins resulting inthe inactive GDP-bound form of RAS, thereby allowing control of cellular proliferation and differentiation. Mutationsleading to changes in the binding sites of either protein are associated with basal cell carcinomas. Mutations alsohave 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 theN-terminal hydrophobic region but retaining the same activity, appears to be abundantly expressed in placental but notadult tissues. (provided by RefSeq, May 2012)
UniProtKB/Swiss-Prot: RASA1_HUMAN, P20936Function: Inhibitory regulator of the Ras-cyclic AMP pathway. Stimulates the GTPase of normal but not oncogenic Rasp21; this stimulation may be further increased in the presence of NCK1
Gene Wiki entry for RASA1 (RAS p21 protein activator 1)
|
Genomic Views
for RASA1 gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000005.9 NC_018916.1 NT_006713.15
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the RASA1 gene promoter:
PPAR-gamma1 NF-1/L NF-1
Other transcription factors
Search SABiosciences Chromatin IP Primers for RASA1
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat RASA1 |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 5q13.3 Ensembl cytogenetic band: 5q14.3 HGNC cytogenetic band: 5q13RASA1 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 5 GeneLoc Exon Structure GeneLoc location for GC05P086565: view genomic region
(about GC identifiers)
Start:
|
86,563,705 bp from pter |
End:
|
86,687,748 bp from pter |
Size:
|
124,044 bases |
Orientation:
|
plus strand |
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Proteins
for RASA1 gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
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 SQSTM1. Interacts with SPSB1; the interaction does not promote degradation. Interacts with CAV2(tyrosine phosphorylated form). Directly interacts with NCK1. Interacts with PDGFRB (tyrosine phosphorylated).Interacts (via SH2 domain) with the 'Tyr-9' phosphorylated form of PDPK1
Subcellular location: Cytoplasm
6/7 PDB 3D structures from  and Proteopedia  for RASA1 (see all 7):1WER (3D)
1WQ1 (3D)
2GQI (3D)
2GSB (3D)
2J05 (3D)
2J06 (3D)
Secondary accessions: B2R6W3 Q9UDI1Alternative splicing: 2 isoforms: P20936-1 P20936-2 Explore the universe of human proteins at neXtProt for RASA1: NX_P20936
Post-translational modifications:
The N-terminus is blocked1
Phosphorylated by SRC and LCK. The phosphorylation SRC inhibits its ability to stimulate the Ras-GTPase activity,whereas phosphorylation by LCK does not display any effect on stimulation activity1
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_P20936
RASA1 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins (2 alternative transcripts):
NP_002881.1 NP_072179.1
ENSEMBL proteins: ENSP00000274376 ENSP00000423395 ENSP00000411221 ENSP00000422008 ENSP00000420905 Reactome Protein details: P20936
Human Recombinant Protein Products:
Gene Ontology (GO): 6 cellular component terms (GO ID links to tree view) (see first 5): About this table
RASA1 for ontologies About GeneDecksing
RASA1 Antibody Products:
Assay Products for RASA1: |
Protein
Domains /
Families
for RASA1 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
RASA1 for domains About GeneDecksing
5/10 InterPro domains/families (see all 10):Graphical View of Domain Structure for InterPro Entry P20936ProtoNet 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, P20936Similarity: Contains 1 C2 domainSimilarity: Contains 1 PH domainSimilarity: Contains 1 Ras-GAP domainSimilarity: Contains 2 SH2 domainsSimilarity: Contains 1 SH3 domain |
Function
for RASA1 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Function Summary:
UniProtKB/Swiss-Prot: RASA1_HUMAN, P20936Function: Inhibitory regulator of the Ras-cyclic AMP pathway. Stimulates the GTPase of normal but not oncogenic Rasp21; this stimulation may be further increased in the presence of NCK1 Genatlas biochemistry entry for RASA1:Ras-p21 GTPase-activating protein,120kDa,GAP,involved in normal blood vessel development
Clone
Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for RASA1 (see all 4)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for RASA1 (see all 2)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector (see all 2): RASA1 (NM_022650) | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for RASA1 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat RASA1 |
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RASA1 |
Gene Ontology (GO): 5/8 molecular function terms (GO ID links to tree view) (see all 8): About this table
RASA1 for ontologies About GeneDecksing
2 GenomeRNAi human phenotypes for RASA1:
Animal Models:
Mouse knock-out Rasa1tm1Paw for RASA1
13 MGI mutant phenotypes (inferred from 3 alleles ) (MGI details for Rasa1):
RASA1 for phenotypes About GeneDecksing
|
Pathways & Interactions
for RASA1 gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
|
Unified GeneCards pathways - 5/44 super-pathways (see all 44) About this table
See pathways by source
| Super-pathway | contained gene-specific pathways |
|---|
| 1 | Development EGFR signaling pathway | | | 2 | Development VEGF signaling via VEGFR2 - generic cascades | | | 3 | G-protein signaling TC21 regulation pathway | | | 4 | Development_PDGF signaling via STATs and NF-kB | | | 5 | Cell adhesion_Ephrins signaling | |
Pathway sources
See GeneCards unified pathways
Show all pathways
5/15 EMD Millipore Pathways for RASA1 (see all 15)
5/14 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for RASA1 (see all 14)
5/15  GeneGo (Thomson Reuters) Pathways for RASA1 (see all 15)
5/22  BioSystems Pathways for RASA1 (see all 22)
3 
Reactome Pathways for RASA1
2 
Kegg Pathways (Kegg details for RASA1):
RASA1 for pathways About GeneDecksing
Interactions:
SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for RASA1
STRING Interaction
Network Preview (showing 5 interactants - click image to see 25)
5/140 Interacting proteins for RASA1 (P209361, 2, 3 ENSP000002743764) via UniProtKB, MINT, STRING, and/or I2D (see all 140)| Interactant | Interaction Details |
|---|
| GeneCard | External ID(s) |
|---|
| ERBB2 | P046262, 3, ENSP000002695714 | MINT-74698 MINT-74702 MINT-74697 MINT-74701 MINT-74699 MINT-74712 MINT-74700 I2D:
score=2 STRING: ENSP00000269571 | | PDGFRB | P096192, 3, ENSP000002617994 | MINT-8026988 MINT-8026958 MINT-8026973 I2D:
score=5 STRING: ENSP00000261799 | | CAPNS1 | P046322, 3, ENSP000002465334 | MINT-7304956 MINT-7304983 MINT-7304902 I2D:
score=1 STRING: ENSP00000246533 | | ABI1 | Q8IZP02, 3, ENSP000003653124 | MINT-7908187 MINT-7908586 I2D:
score=1 STRING: ENSP00000365312 | | CD5 | P061272, 3, ENSP000003426814 | MINT-8037472 I2D:
score=4 STRING: ENSP00000342681 |
About this table
Gene Ontology (GO): 5/15 biological process terms (GO ID links to tree view) (see all 15): About this table
RASA1 for ontologies About GeneDecksing
|
Drugs & Compounds
for RASA1 gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
RASA1 for compounds About GeneDecksing
 |
Enzo Life Sciences drugs & compounds for RASA1 |
 Browse Tocris compounds for RASA1
10/13 Novoseek chemical compound relationships for RASA1 gene (see all 13) About this table
| Compound |
-log (P-Val) |
Hits |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| gtp |
72.9 |
21 |
9312123 (3), 8262937 (2), 7492562 (1), 8607981 (1) (see all 15) |
| tyrosine |
69.4 |
76 |
10567236 (5), 10688886 (4), 8408058 (3), 15030317 (2) (see all 39) |
| gdp |
58.1 |
5 |
17052120 (1), 8909796 (1), 9312123 (1), 15774489 (1) |
| phosphotyrosine |
53.4 |
3 |
15030317 (1), 10391888 (1) |
| guanine |
27.4 |
1 |
7622571 (1) |
| phosphatidylinositol |
26.3 |
4 |
1328986 (1), 7898923 (1), 15763428 (1), 8816504 (1) |
| arginine |
22.4 |
8 |
11412100 (3), 15340059 (2), 9668168 (1) |
| guanosine |
12.3 |
2 |
9731575 (1) |
| phenylalanine |
6.07 |
1 |
8408058 (1) |
| serine |
3.17 |
1 |
16314845 (1) |
Search CenterWatch for drugs/clinical trials and news about RASA1
|
Transcripts
for RASA1 gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
REFSEQ mRNAs for RASA1 gene (2 alternative transcripts): NM_002890.2 NM_022650.2 Unigene Cluster for RASA1: RAS p21 protein activator (GTPase activating protein) 1 Hs.664080 [show with all ESTs]Unigene Representative Sequence: CR7497226 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000274376 ENST00000515800(uc003kiw.3 uc010jav.3) ENST00000456692(uc003kix.3 uc011ctv.2 uc011ctw.2 uc010jaw.3)
ENST00000512763 ENST00000506290 ENST00000509953
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for RASA1 (see all 4)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for RASA1 (see all 2)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector (see all 2): RASA1 (NM_022650) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for RASA1 | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat RASA1 |
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 24/38 DOTS entries (see all 38): DT.92454258 DT.100833161 DT.92454256 DT.92454259 DT.100689204 DT.120829242 DT.421222 DT.92454254 DT.75191555 DT.95186287 DT.97820076 DT.40260770 DT.436627 DT.40226058 DT.95186278 DT.75146302 DT.120829324 DT.40198236 DT.91657462 DT.95186275 DT.95186306 DT.95186310 DT.100786289 DT.120829251 24/282 AceView cDNA sequences (see all 282): AI611854 CD172265 AU156689 AU156015 BQ007115 R71077 M23379 H99046 AU136635 AU138739 BX503514 AU137697 AU136473 AW192176 AU135843 BC033015 N77649 BG621519 BC070063 NM_022650 NM_002890 AU136375 AA251808 BQ232939
GeneLoc Exon Structure
5/11 Alternative Splicing Database (ASD) splice patterns (SP) for RASA1 (see all 11) About this scheme
| 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: | | | | | | | | | | | | |
ECgene alternative splicing isoforms for RASA1
|
Expression
for RASA1 gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| RASA1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TTACCCATTC
About this image
See RASA1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for RASA1
SOURCE GeneReport for Unigene cluster: Hs.664080
UniProtKB/Swiss-Prot: RASA1_HUMAN, P20936Tissue specificity: In placental villi, detected only in the trophoblast layer (cytotrophoblast andsyncytiotrophoblast). Not detected in stromal, endothelial or Hofbauer cells (at protein level)
SABiosciences Expression via Pathway-Focused PCR Arrays including RASA1 (see all 6):
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for RASA1
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat RASA1 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat RASA1 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat RASA1 | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RASA1 |
Orthologs
for RASA1 gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
|
This gene was present in the common ancestor of animals.
Orthologs for RASA1 gene from 6/20 species (see all 20) About this table
| Organism |
Taxonomic
classification |
Gene |
Description |
Human
Similarity |
Orthology
Type |
Details |
mouse
(Mus musculus) |
Mammalia |
Rasa11 , 5 |
RAS p21 protein activator 11, 5 |
91.39(n)1
95.95(a)1 |
|
13 (45.05 cM)5
2183971 NM_145452.31 NP_663427.21
852147805 |
chicken
(Gallus gallus) |
Aves |
RASA11 |
RAS p21 protein activator (GTPase activating protein) more |
82.12(n)
89.9(a) |
|
427327 XM_424907.3 XP_424907.3 |
lizard
(Anolis carolinensis) |
Reptilia |
RASA16 |
-- |
83(a) |
1 ↔ 1 |
2(20823673-20887855) |
African clawed frog
(Xenopus laevis) |
Amphibia |
Xl.285652 |
Xenopus laevis transcribed sequence with strong similarity more |
80.71(n) |
|
BI314837.1 |
zebrafish
(Danio rerio) |
Actinopterygii |
CF347677.12 |
-- |
77.34(n) |
|
CF347677.1 |
fruit fly
(Drosophila melanogaster) |
Insecta |
vap1 , 3 |
RAS GTPase activator3
vacuolar peduncle1 |
46(a)3
52.28(n)1
49.04(a)1 |
|
325691 NM_078637.21 NP_523361.11 |
ENSEMBL Gene Tree for RASA1 (if available)
TreeFam Gene Tree for RASA1 (if available) |
Paralogs
for RASA1 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for RASA1 gene
- SYNGAP12 DAB2IP2 RASA42 RASAL32 RASA22 RASA4B2 RASA32 RASAL22
- RASAL12
4 SIMAP similar genes for RASA1 using alignment to 5 protein entries: RASA1_HUMAN (see all proteins):DKFZp434N071 PTPN11 GRAP2 GRAPL
RASA1 for paralogs About GeneDecksing
|
Genomic Variants
for RASA1 gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 5 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for RASA1 (86563705 - 86687748 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for RASA1
1 CNV: 6423
Human Gene Mutation Database (HGMD): RASA1
Locus Specific Mutation Databases (LSDB): RASA1
| SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing RASA1 |
|
Disorders
/ Diseases
for RASA1 gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database, Novoseek,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
RASA1 for disorders About GeneDecksing
OMIM gene information: 139150
OMIM disorders: 608355 608354 605462
UniProtKB/Swiss-Prot: RASA1_HUMAN, P20936
Note=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 shapeand 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 bya cutaneous flush with underlying multiple micro-arteriovenous fistulas, in association with soft tissue and skeletalhypertrophy of the affected limb
20/37  diseases for RASA1 (see all 37): About MalaCardsparkes weber syndrome arteriovenous malformation capillary malformations weber syndrome
basal cell carcinoma parkes weber slndrome capillary malformation-arteriovenous malformation sturge-weber syndrome
klippel-trenaunay syndrome basal cell carcinoma, somatic vein of galen aneurysm carcinoma
non-hodgkin lymphoma juvenile myelomonocytic leukemia myelomonocytic leukemia neurofibromatosis
myeloid leukemia hodgkin's lymphoma acute lymphoblastic leukemia acute lymphocytic leukemia
3 diseases from the University of Copenhagen DISEASES database for RASA1:Klippel-Trenaunay syndrome Arteriovenous malformation Neurofibromatosis 10/12 Novoseek disease relationships for RASA1 gene (see all 12) About this table
Human Genome Epidemiology (HuGE) Navigator: RASA1 (14 documents)
Export disorders for RASA1 gene to outside databases
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Publications
for RASA1 gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
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PubMed articles for RASA1 gene, integrated from 9 sources (see all 317):
(articles sorted by number of sources associating them with RASA1) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- Capillary malformation-arteriovenous malformation, a new clinical and genetic disorder caused by RASA1 mutations. (PubMed id 14639529)1, 2, 9 Eerola I.... Vikkula M. (2003)
- Purification, characterization, and cellular localization of the 100- kDa human placental GTPase-activating protein. (PubMed id 8360177)1, 2, 9 Zhang Y....Thane M.N. (1993)
- Tyrosine phosphorylation of caveolin-2 at residue 27: differences in the spatial and temporal behavior of phospho-Cav-2 (pY19 and pY27). (PubMed id 15504032)1, 2, 9 Wang X.B....Lisanti M.P. (2004)
- Src-induced phosphorylation of caveolin-2 on tyrosine 19. Phospho- caveolin-2 (Tyr(P)19) is localized near focal adhesions, remains associated with lipid rafts/caveolae, but no longer forms a high molecular mass hetero-oligomer with caveolin-1. (PubMed id 12091389)1, 2, 9 Lee H....Lisanti M.P. (2002)
- Differential actions of p60c-Src and Lck kinases on the Ras regulators p120-GAP and GDP/GTP exchange factor CDC25Mm. (PubMed id 11389730)1, 2, 9 Giglione C....Parmeggiani A. (2001)
- Adaptor protein Nck1 interacts with p120 Ras GTPase-activating protein and regulates its activity. (PubMed id 21664272)1, 2 Ger M.... Valius M. (2011)
- 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)1, 2 Wang D....Wu G. (2005)
- Immunoaffinity profiling of tyrosine phosphorylation in cancer cells. (PubMed id 15592455)1, 2 Rush J.... Comb M.J. (2005)
- RASA1: variable phenotype with capillary and arteriovenous malformations. (PubMed id 15917201)1, 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)1, 2 Gerhard D.S....Malek J. (2004)
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External Searches for RASA1 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
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Genome Databases showing RASA1 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
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Other Databases showing RASA1 gene
(According to HUGE)
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Specialized Databases showing RASA1 gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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| Patent Information for RASA1 gene:
Search GeneIP for patents involving RASA1
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
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Products
for RASA1 gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
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