Gene Information
|
Gene Name
|
RASA1 |
|
Gene ID
|
5921
|
|
Gene Full Name
|
RAS p21 protein activator 1 |
|
Gene Alias
|
CM-AVM|CMAVM|CMAVM1|GAP|PKWS|RASA|RASGAP|p120|p120GAP|p120RASGAP |
|
Transcripts
|
ENSG00000145715
|
|
Virus
|
HTLV1 |
|
Gene Type
|
protein-coding |
|
HPA Location Info
|
Vesicles, Basal body;Cytosol; 
|
|
Membrane Info
|
Cancer-related genes, Disease related genes, Human disease related genes, Plasma proteins, Predicted intracellular proteins, RAS pathway related proteins |
|
Uniport_ID
|
P20936
|
|
HGNC ID
|
HGNC:9871
|
|
OMIM ID
|
139150 |
|
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] |
Target gene [RASA1] related to VISs 
Integration Table: if previous studies reported that target gene was altered by virus integration events, the overlap between VISs in this literature and Cistrome factors was listed in this section
| DVID |
Chromosome |
HM |
TFBS |
CA |
Sum of Overlapped Records |
Detail |
| 6005980 |
chr5 |
13 |
63 |
1 |
77 |
View |
| 6011459 |
chr5 |
22 |
0 |
3 |
25 |
View |
| 6011660 |
chr5 |
24 |
1 |
0 |
25 |
View |
| 6024862 |
chr5 |
3 |
0 |
0 |
3 |
View |
Target gene [RASA1] related to Omics data
| Data ID |
Experiment type |
Sample number |
Platform |
|
GSE189602
|
Methylation profiling (Array) |
4 |
Infinium MethylationEPIC |
|
C GSE94732
|
Chip-seq |
24 |
Illumina NextSeq 500 (Homo sapiens);illumina Genome Analyzer IIx (Homo sapiens) |
|
GSE52244
|
Expression array |
15 |
[HuEx-1_0-st] Affymetrix Human Exon 1.0 ST Array [probe set (exon) version] |
|
GSE19080
|
Expression array |
38 |
Homo sapiens 3K Immunoarray2 HTLV-1 JH |
|
GSE10789
|
Expression array |
6 |
NCI/ATC Hs-OperonV3 |
|
GSE224047
|
RNA-seq |
10 |
Illumina NextSeq 500 (Homo sapiens) |
|
GSE168557
|
Expression array |
6 |
Agilent-039494 SurePrint G3 Human GE v2 8x60K Microarray 039381 (Feature Number version) |
|
GSE136189
|
Methylation profiling (Array) |
40 |
Illumina HumanMethylation450 BeadChip (HumanMethylation450_15017482);Illumina Infinium HumanMethylation850 BeadChip |
When the gene can detect a peak in the dataset, a peak plot will be displayed.
> Dataset: GSE94732 - RASA1 peak across samples
|
Peak Plot
|
|
|
HTLV1 Target gene Detail Information
