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Rasa3 RAS p21 protein activator 3 [ Mus musculus (house mouse) ]

Gene ID: 19414, updated on 21-Apr-2024

Summary

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Official Symbol
Rasa3provided by MGI
Official Full Name
RAS p21 protein activator 3provided by MGI
Primary source
MGI:MGI:1197013
See related
Ensembl:ENSMUSG00000031453 AllianceGenome:MGI:1197013
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
scat; GAPIII; hlb381; E130011G04
Summary
Predicted to enable calcium-release channel activity. Predicted to be involved in intracellular signal transduction; negative regulation of Ras protein signal transduction; and regulation of GTPase activity. Predicted to act upstream of or within cellular response to heat. Predicted to be intrinsic component of the cytoplasmic side of the plasma membrane. Is expressed in several structures, including alimentary system; brain; genitourinary system; immune system; and neural retina. Used to study aplastic anemia. Orthologous to human RASA3 (RAS p21 protein activator 3). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in spleen adult (RPKM 50.1), mammary gland adult (RPKM 30.6) and 28 other tissues See more
Orthologs
human all
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Genomic context

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Location:
8 A1.1; 8 6.29 cM
Exon count:
25
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 8 NC_000074.7 (13617218..13727590, complement)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 8 NC_000074.6 (13567218..13677587, complement)

Chromosome 8 - NC_000074.7Genomic Context describing neighboring genes Neighboring gene transmembrane protein 255B Neighboring gene growth arrest specific 6 Neighboring gene predicted gene, 53399 Neighboring gene RIKEN cDNA 1700029H14 gene Neighboring gene STARR-seq mESC enhancer starr_20769 Neighboring gene STARR-seq mESC enhancer starr_20770 Neighboring gene STARR-positive B cell enhancer ABC_E2857 Neighboring gene predicted gene, 34795 Neighboring gene VISTA enhancer mm1751 Neighboring gene STARR-positive B cell enhancer ABC_E10490 Neighboring gene predicted gene, 46032 Neighboring gene STARR-seq mESC enhancer starr_20774 Neighboring gene STARR-seq mESC enhancer starr_20775 Neighboring gene CFAP97 domain containing 2 Neighboring gene 3-phosphoglycerate dehydrogenase pseudogene

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. Rasa3 regulates stage-specific cell cycle progression in murine erythropoiesis. Brindley EC, et al. Blood Cells Mol Dis, 2021 Mar. PMID 33341069, Free PMC Article
  2. Increased Reactive Oxygen Species and Cell Cycle Defects Contribute to Anemia in the RASA3 Mutant Mouse Model scat. Hartman ES, et al. Front Physiol, 2018. PMID 29922180, Free PMC Article
  3. Heritable severe combined anemia and thrombocytopenia in the mouse: description of the disease and successful therapy. Peters LL, et al. Blood, 1990 Aug 15. PMID 2383655
  4. RAS P21 Protein Activator 3 (RASA3) Specifically Promotes Pathogenic T Helper 17 Cell Generation by Repressing T-Helper-2-Cell-Biased Programs. Wu B, et al. Immunity, 2018 Nov 20. PMID 30446383, Free PMC Article
  5. The Ras/Rap GTPase activating protein RASA3: from gene structure to in vivo functions. Schurmans S, et al. Adv Biol Regul, 2015 Jan. PMID 25294679

See all (37) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Rasa3 regulates stage-specific cell cycle progression in murine erythropoiesis.
    Title: Rasa3 regulates stage-specific cell cycle progression in murine erythropoiesis.
  2. Differential effects of RASA3 mutations on hematopoiesis are profoundly influenced by genetic background and molecular variant.
    Title: Differential effects of RASA3 mutations on hematopoiesis are profoundly influenced by genetic background and molecular variant.
  3. RASA3 promoted proteasome-mediated IRF4 protein degradation by facilitating interaction of IRF4 with E3-ubiquitin ligase Cbl-b. Therefore, a RASA3-IRF4-Cbl-b pathway specifically directs pTh17 cell generation by balancing reciprocal Th17-Th2 cell programs. These findings indicate that a distinct molecular program directs pTh17 cell generation and reveals targets for treating pTh17 cell-related pathology and diseases.
    Title: RAS P21 Protein Activator 3 (RASA3) Specifically Promotes Pathogenic T Helper 17 Cell Generation by Repressing T-Helper-2-Cell-Biased Programs.
  4. Rasa3 is a critical regulator of Rap1 in endothelial cells which controls adhesions properties and vascular lumen integrity; its specific endothelial cell inactivation results in occluded blood vessels, hemorrhages and early embryonic death in mouse, mimicking thus the Rasa3-/- mouse phenotype.
    Title: Rasa3 controls turnover of endothelial cell adhesion and vascular lumen integrity by a Rap1-dependent mechanism.
  5. these results support an important role for Rasa3 in PI3K-dependent integrin alphaIIbbeta3-mediated outside-in signaling and cell spreading.
    Title: The Phosphatidylinositol 3,4,5-trisphosphate (PI(3,4,5)P3) Binder Rasa3 Regulates Phosphoinositide 3-kinase (PI3K)-dependent Integrin αIIbβ3 Outside-in Signaling.
  6. the function of RASA3 during megakaryopoiesis, megakaryocyte adhesion and migration as well as integrin signaling has been reported.
    Title: The Ras/Rap GTPase activating protein RASA3: from gene structure to in vivo functions.
  7. our results indicate that Rasa3 catalytic activity controls Rap1 activation and integrin signaling during megakaryocyte differentiation in mouse.
    Title: Rasa3 controls megakaryocyte Rap1 activation, integrin signaling and differentiation into proplatelet.
  8. Expression of RASA3 led to premature platelet activation and markedly reduced the life span of circulating platelets.
    Title: RASA3 is a critical inhibitor of RAP1-dependent platelet activation.
  9. Identified is in the scat (severe combined anemia and thrombocytopenia) mouse model a missense mutation (G125V) in the Rasa3 gene, encoding a Ras GTPase activating protein.
    Title: The scat mouse model highlights RASA3, a GTPase activating protein, as a key regulator of vertebrate erythropoiesis and megakaryopoiesis.
  10. RASA3 plays a critical, conserved, and nonredundant role for RASA3 in vertebrate hematopoiesis.
    Title: Critical function for the Ras-GTPase activating protein RASA3 in vertebrate erythropoiesis and megakaryopoiesis.
Submit: New GeneRIF Correction

Phenotypes

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Associated conditions

Description Tests
severe combined anemia and thrombocytopenia
GeneReviews: Not available

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Spontaneous (1)  1 citation
  • Targeted (8)  1 citation
  • Chemically induced (ENU) (1) 
  • Endonuclease-mediated (1) 

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

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables GTPase activator activity IEA
Inferred from Electronic Annotation
more info
  
enables intracellularly gated calcium channel activity ISO
Inferred from Sequence Orthology
more info
  
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
acts_upstream_of_or_within cellular response to heat ISO
Inferred from Sequence Orthology
more info
 PubMed 
involved_in intracellular signal transduction IEA
Inferred from Electronic Annotation
more info
  
involved_in negative regulation of Ras protein signal transduction IEA
Inferred from Electronic Annotation
more info
  
involved_in regulation of GTPase activity IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in cytoplasmic side of plasma membrane ISO
Inferred from Sequence Orthology
more info
  

General protein information

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Preferred Names
ras GTPase-activating protein 3
Names
GAP1(IP4BP)
GAPIII activator 3
R-Ras gap
R-ras RTPase activating protein-3
Ras GTPase-activating protein III
ins P4-binding protein

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_009025.2 → NP_033051.2  ras GTPase-activating protein 3

    See identical proteins and their annotated locations for NP_033051.2

    Status: VALIDATED

    Source sequence(s)
    BC057300, CA749631
    Consensus CDS
    CCDS40234.1
    UniProtKB/Swiss-Prot
    Q60790, Q6PG24, Q925V1
    UniProtKB/TrEMBL
    Q3UGJ5
    Related
    ENSMUSP00000112998.3, ENSMUST00000117551.4
    Conserved Domains (7) summary
    smart00107
    Location:679 → 714
    BTK; Bruton's tyrosine kinase Cys-rich motif
    cd04010
    Location:146 → 288
    C2B_RasA3; C2 domain second repeat present in RAS p21 protein activator 3 (RasA3)
    cd08401
    Location:13 → 133
    C2A_RasA2_RasA3; C2 domain first repeat present in RasA2 and RasA3
    cd05134
    Location:297 → 565
    RasGAP_RASA3; Ras-GTPase Activating Domain of RASA3
    smart00323
    Location:275 → 614
    RasGAP; GTPase-activator protein for Ras-like GTPases
    cd13371
    Location:562 → 686
    PH_GAP1_mammal-like; GAP1(IP4BP) pleckstrin homology (PH) domain
    pfam00169
    Location:577 → 676
    PH; PH domain

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_000074.7 Reference GRCm39 C57BL/6J

    Range
    13617218..13727590 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006508734.3 → XP_006508797.1  ras GTPase-activating protein 3 isoform X1

    UniProtKB/TrEMBL
    Q3UGJ5
    Conserved Domains (5) summary
    smart00107
    Location:647 → 682
    BTK; Bruton's tyrosine kinase Cys-rich motif
    cd04010
    Location:114 → 256
    C2B_RasA3; C2 domain second repeat present in RAS p21 protein activator 3 (RasA3)
    cd08401
    Location:1 → 101
    C2A_RasA2_RasA3; C2 domain first repeat present in RasA2 and RasA3
    cd05134
    Location:265 → 533
    RasGAP_RASA3; Ras-GTPase Activating Domain of RASA3
    cd13371
    Location:530 → 654
    PH_GAP1_mammal-like; GAP1(IP4BP) pleckstrin homology (PH) domain
Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q60790.2 GenPept UniProtKB/Swiss-Prot:Q60790

Gene LinkOut

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