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

Summary

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

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_000079.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
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.
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.
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.
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.
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.
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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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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)

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

Status: VALIDATED

Source sequence(s)

AC127316, AC154271
NM_001426637.1 → NP_001413566.1 ras GTPase-activating protein 1 isoform 3

Status: VALIDATED

Source sequence(s)

AC127316, AC154271
NM_001426638.1 → NP_001413567.1 ras GTPase-activating protein 1 isoform 4

Status: VALIDATED

Source sequence(s)

AC127316
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