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Rasa1 RAS p21 protein activator 1 [ Mus musculus (house mouse) ]

Gene ID: 218397, updated on 21-Apr-2024

Summary

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Official Symbol
Rasa1provided by MGI
Official Full Name
RAS p21 protein activator 1provided by MGI
Primary source
MGI:MGI:97860
See related
Ensembl:ENSMUSG00000021549 AllianceGenome:MGI:97860
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
Gap; Rasa; RasGAP
Summary
Predicted to enable several functions, including GTPase activator activity; enzyme binding activity; and phosphotyrosine residue binding activity. Predicted to be involved in several processes, including activation of GTPase activity; cellular response to growth factor stimulus; and positive regulation of glucose import. Located in plasma membrane and ruffle. Is expressed in several structures, including alimentary system; brain; cardiovascular system; genitourinary system; and hemolymphoid system gland. Human ortholog(s) of this gene implicated in arteriovenous malformation and basal cell carcinoma. Orthologous to human RASA1 (RAS p21 protein activator 1). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in CNS E14 (RPKM 8.0), CNS E11.5 (RPKM 7.1) and 28 other tissues See more
Orthologs
human all
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Genomic context

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Location:
13 C3; 13 45.05 cM
Exon count:
26
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 13 NC_000079.7 (85362893..85437487, complement)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 13 NC_000079.6 (85214699..85289486, complement)

Chromosome 13 - NC_000079.7Genomic Context describing neighboring genes Neighboring gene NADH-ubiquinone oxidoreductase chain 5-like Neighboring gene STARR-seq mESC enhancer starr_35177 Neighboring gene STARR-seq mESC enhancer starr_35178 Neighboring gene cyclin H Neighboring gene STARR-seq mESC enhancer starr_35180 Neighboring gene STARR-seq mESC enhancer starr_35181 Neighboring gene STARR-positive B cell enhancer mm9_chr13:85569683-85569983 Neighboring gene STARR-seq mESC enhancer starr_35182 Neighboring gene STARR-seq mESC enhancer starr_35183 Neighboring gene STARR-seq mESC enhancer starr_35184 Neighboring gene high mobility group box 3 pseudogene Neighboring gene STARR-seq mESC enhancer starr_35185 Neighboring gene predicted gene, 46396

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

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Related articles in PubMed

  1. The caspase-3-p120-RasGAP module generates a NF-κB repressor in response to cellular stress. Khalil H, et al. J Cell Sci, 2015 Sep 15. PMID 26224876
  2. Unbiased RNAi screen for hepcidin regulators links hepcidin suppression to proliferative Ras/RAF and nutrient-dependent mTOR signaling. Mleczko-Sanecka K, et al. Blood, 2014 Mar 6. PMID 24385536, Free PMC Article
  3. Expression of the NH(2)-terminal fragment of RasGAP in pancreatic beta-cells increases their resistance to stresses and protects mice from diabetes. Yang JY, et al. Diabetes, 2009 Nov. PMID 19696184, Free PMC Article
  4. The Ras family of GTPases in cancer cell invasion. Hernández-Alcoceba R, et al. Cell Mol Life Sci, 2000 Jan 20. PMID 10949581
  5. RASA contains a polymorphic microsatellite and maps to bovine syntenic group U22 on chromosome 7q2.4-qter. Eggen A, et al. Mamm Genome, 1992. PMID 1421763

See all (91) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. MicroRNA-144 relieves chronic constriction injury-induced neuropathic pain via targeting RASA1.
    Title: MicroRNA-144 relieves chronic constriction injury-induced neuropathic pain via targeting RASA1.
  2. RASA1-driven cellular export of collagen IV is required for the development of lymphovenous and venous valves in mice.
    Title: RASA1-driven cellular export of collagen IV is required for the development of lymphovenous and venous valves in mice.
  3. RASA1 is essential for the survival of endothelial cells during developmental angiogenesis in which primitive vascular plexuses are remodeled into hierarchical vascular networks
    Title: RASA1-dependent cellular export of collagen IV controls blood and lymphatic vascular development.
  4. results indicate that, mTOR, Bad, or Survivin are not required for p120 RasGAP fragment N to protect cells from cell death; conclude that downstream targets of Akt other than mTORC1, Bad, or survivin mediate fragment N-induced protection or that several Akt effectors can compensate for each other to induce the pro-survival fragment N-dependent responses
    Title: Role of mTOR, Bad, and Survivin in RasGAP Fragment N-Mediated Cell Protection.
  5. RASA1 catalytic activity is essential for the function and development of lymphatic vessel valves.
    Title: RASA1 regulates the function of lymphatic vessel valves in mice.
  6. These results indicate that the caspase-3/p120 RasGAP stress-sensing module impacts on carcinogen-induced liver cancer incidence but not sufficiently so as to affect overall survival.
    Title: The caspase-3/p120 RasGAP stress-sensing module reduces liver cancer incidence but does not affect overall survival in gamma-irradiated and carcinogen-treated mice.
  7. Double-deficient RASA1-neurofibromin 1 mice developed T cell acute lymphoblastic leukemia/lymphoma, which originated at an early point in T cell development and was dependent on activating mutations in the Notch1 gene.
    Title: Cutting Edge: Codeletion of the Ras GTPase-Activating Proteins (RasGAPs) Neurofibromin 1 and p120 RasGAP in T Cells Results in the Development of T Cell Acute Lymphoblastic Leukemia.
  8. Rasa1 may have a role in pathogenesis of capillary malformation-arteriovenous malformation in a mouse model
    Title: Blood vascular abnormalities in Rasa1(R780Q) knockin mice: implications for the pathogenesis of capillary malformation-arteriovenous malformation.
  9. Regulation of Rasa1 translation by miR-132 was seen in severed axons, demonstrating local function within the axon.
    Title: MicroRNA-132 is enriched in developing axons, locally regulates Rasa1 mRNA, and promotes axon extension.
  10. RASA1 mutation is responsible for the aberrant lymphatic architecture and functional abnormalities, as visualized in the PKWS subject and in the animal model.
    Title: Lymphatic abnormalities are associated with RASA1 gene mutations in mouse and man.
Submit: New GeneRIF Correction See all GeneRIFs (23)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Targeted (6)  1 citation
  • Endonuclease-mediated (2) 

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC7759

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables GTPase activator activity ISO
Inferred from Sequence Orthology
more info
  
enables GTPase binding ISO
Inferred from Sequence Orthology
more info
  
enables kinase binding ISO
Inferred from Sequence Orthology
more info
  
enables phosphotyrosine residue binding ISO
Inferred from Sequence Orthology
more info
  
enables platelet-derived growth factor receptor binding ISO
Inferred from Sequence Orthology
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein kinase B binding ISO
Inferred from Sequence Orthology
more info
  
enables protein tyrosine kinase binding ISO
Inferred from Sequence Orthology
more info
  
enables protein-containing complex binding ISO
Inferred from Sequence Orthology
more info
  
enables receptor tyrosine kinase binding ISO
Inferred from Sequence Orthology
more info
  
enables signaling receptor binding ISO
Inferred from Sequence Orthology
more info
  
enables transmembrane transporter binding ISO
Inferred from Sequence Orthology
more info
  
Process Evidence Code Pubs
involved_in blood vessel morphogenesis ISO
Inferred from Sequence Orthology
more info
  
involved_in cellular response to epidermal growth factor stimulus ISO
Inferred from Sequence Orthology
more info
  
involved_in cellular response to platelet-derived growth factor stimulus ISO
Inferred from Sequence Orthology
more info
  
involved_in negative regulation of apoptotic process ISO
Inferred from Sequence Orthology
more info
  
involved_in negative regulation of cell adhesion ISO
Inferred from Sequence Orthology
more info
  
involved_in negative regulation of cell-matrix adhesion ISO
Inferred from Sequence Orthology
more info
  
involved_in positive regulation of fibroblast proliferation ISO
Inferred from Sequence Orthology
more info
  
involved_in positive regulation of glucose import ISO
Inferred from Sequence Orthology
more info
  
involved_in positive regulation of peptidyl-tyrosine phosphorylation ISO
Inferred from Sequence Orthology
more info
  
involved_in positive regulation of protein phosphorylation ISO
Inferred from Sequence Orthology
more info
  
involved_in regulation of actin filament polymerization ISO
Inferred from Sequence Orthology
more info
  
involved_in response to xenobiotic stimulus ISO
Inferred from Sequence Orthology
more info
  
involved_in signal transduction ISO
Inferred from Sequence Orthology
more info
  
Component Evidence Code Pubs
located_in cytosol TAS
Traceable Author Statement
more info
  
located_in nuclear membrane ISO
Inferred from Sequence Orthology
more info
  
located_in plasma membrane IDA
Inferred from Direct Assay
more info
 PubMed 
located_in ruffle IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
ras GTPase-activating protein 1
Names
GTPase-activating protein
p120-rasGAP

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001426636.1 → NP_001413565.1  ras GTPase-activating protein 1 isoform 2

    Status: VALIDATED

    Source sequence(s)
    AC127316, AC154271

  2. NM_001426637.1 → NP_001413566.1  ras GTPase-activating protein 1 isoform 3

    Status: VALIDATED

    Source sequence(s)
    AC127316, AC154271

  3. NM_001426638.1 → NP_001413567.1  ras GTPase-activating protein 1 isoform 4

    Status: VALIDATED

    Source sequence(s)
    AC127316

  4. NM_145452.4 → NP_663427.2  ras GTPase-activating protein 1 isoform 1

    Status: VALIDATED

    Source sequence(s)
    AC127316, AC154271
    Consensus CDS
    CCDS26667.2
    UniProtKB/TrEMBL
    E9PYG6
    Related
    ENSMUSP00000105179.3, ENSMUST00000109552.3
    Conserved Domains (8) summary
    cd08400
    Location:582 → 707
    C2_Ras_p21A1; C2 domain present in RAS p21 protein activator 1 (RasA1)
    cd10353
    Location:152 → 255
    SH2_Nterm_RasGAP; N-terminal Src homology 2 (SH2) domain found in Ras GTPase-activating protein 1 (GAP)
    cd10354
    Location:341 → 417
    SH2_Cterm_RasGAP; C-terminal Src homology 2 (SH2) domain found in Ras GTPase-activating protein 1 (GAP)
    cd11788
    Location:272 → 330
    SH3_RasGAP; Src Homology 3 domain of Ras GTPase-Activating Protein 1
    cd05391
    Location:705 → 1036
    RasGAP_p120GAP; Ras-GTPase Activating Domain of p120
    smart00323
    Location:689 → 1035
    RasGAP; GTPase-activator protein for Ras-like GTPases
    cd13260
    Location:480 → 567
    PH_RASA1; RAS p21 protein activator (GTPase activating protein) 1 Pleckstrin homology (PH) domain
    pfam00169
    Location:480 → 568
    PH; PH domain

RNA

  1. NR_189748.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC127316, AC154271

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000079.7 Reference GRCm39 C57BL/6J

    Range
    85362893..85437487 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein Strain
Heading Accession and Version

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