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    Rasal1 RAS protein activator like 1 (GAP1 like) [ Mus musculus (house mouse) ]

    Gene ID: 19415, updated on 5-Mar-2024

    Summary

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    Official Symbol
    Rasal1provided by MGI
    Official Full Name
    RAS protein activator like 1 (GAP1 like)provided by MGI
    Primary source
    MGI:MGI:1330842
    See related
    Ensembl:ENSMUSG00000029602 AllianceGenome:MGI:1330842
    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
    MRASAL
    Summary
    Predicted to enable GTPase activator activity; metal ion binding activity; and phospholipid binding activity. Predicted to be involved in positive regulation of dendrite extension. Predicted to act upstream of or within cell differentiation. Predicted to be located in cytosol. Predicted to colocalize with plasma membrane. Is expressed in telencephalon mantle layer. Orthologous to human RASAL1 (RAS protein activator like 1). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Biased expression in cortex adult (RPKM 12.7), frontal lobe adult (RPKM 9.6) and 12 other tissues See more
    Orthologs
    human all
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    Genomic context

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    Location:
    5 F; 5 60.63 cM
    Exon count:
    27
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 5 NC_000071.7 (120786105..120817662)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 5 NC_000071.6 (120648040..120679597)

    Chromosome 5 - NC_000071.7Genomic Context describing neighboring genes Neighboring gene STARR-positive B cell enhancers ABC_E2760 and ABC_E2174 Neighboring gene STARR-positive B cell enhancer ABC_E3610 Neighboring gene RBPJ interacting and tubulin associated 1 Neighboring gene DEAD box helicase 54 Neighboring gene cilia and flagella associated protein 73 Neighboring gene STARR-positive B cell enhancer ABC_E4782 Neighboring gene STARR-positive B cell enhancer ABC_E11300 Neighboring gene CapStarr-seq enhancer MGSCv37_chr5:121135771-121135981 Neighboring gene deltex 1, E3 ubiquitin ligase Neighboring gene STARR-positive B cell enhancer ABC_E8075 Neighboring gene STARR-positive B cell enhancer ABC_E6371 Neighboring gene STARR-seq mESC enhancer starr_14247 Neighboring gene STARR-seq mESC enhancer starr_14249 Neighboring gene 2'-5' oligoadenylate synthetase 2

    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. High-fidelity CRISPR/Cas9- based gene-specific hydroxymethylation rescues gene expression and attenuates renal fibrosis. Xu X, et al. Nat Commun, 2018 Aug 29. PMID 30158531, Free PMC Article
    2. GTPase-activating protein Rasal1 associates with ZAP-70 of the TCR and negatively regulates T-cell tumor immunity. Thaker YR, et al. Nat Commun, 2019 Oct 22. PMID 31641113, Free PMC Article
    3. Epigenetic balance of aberrant Rasal1 promoter methylation and hydroxymethylation regulates cardiac fibrosis. Xu X, et al. Cardiovasc Res, 2015 Mar 1. PMID 25616414
    4. Methylation determines fibroblast activation and fibrogenesis in the kidney. Bechtel W, et al. Nat Med, 2010 May. PMID 20418885, Free PMC Article
    5. Distinct phosphoinositide binding specificity of the GAP1 family proteins: characterization of the pleckstrin homology domains of MRASAL and KIAA0538. Minagawa T, et al. Biochem Biophys Res Commun, 2001 Oct 19. PMID 11594756

    See all (32) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. ZAP-70-associated Rasal1 as a new negative regulator of T-cell activation and tumor immunity.Rasal1 binds to the kinase domain of ZAP-70.
      Title: GTPase-activating protein Rasal1 associates with ZAP-70 of the TCR and negatively regulates T-cell tumor immunity.
    2. Transcriptional suppression of RASAL1 through aberrant promoter methylation contributes to endothelial-mesenchymal transition and ultimately to progression of cardiac fibrosis.
      Title: Epigenetic balance of aberrant Rasal1 promoter methylation and hydroxymethylation regulates cardiac fibrosis.
    3. Kidney fibrosis is associated with Rasal1 promoter hypermethylation, suppressed Rasal1 expression and suppressed Tet3 expression.
      Title: Tet3-mediated hydroxymethylation of epigenetically silenced genes contributes to bone morphogenic protein 7-induced reversal of kidney fibrosis.
    4. We demonstrate here that hypermethylation of RASAL1, encoding an inhibitor of the Ras oncoprotein, is associated with the perpetuation of fibroblast activation and fibrogenesis in the kidney
      Title: Methylation determines fibroblast activation and fibrogenesis in the kidney.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Targeted (2)  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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    Homology

    Clone Names

    • AC125183.7

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables GTPase activator activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    acts_upstream_of_or_within cell differentiation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in cellular response to calcium ion IEA
    Inferred from Electronic Annotation
    more info
    		  
    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 positive regulation of dendrite extension ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in regulation of GTPase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in cytosol ISO
    Inferred from Sequence Orthology
    more info
    		  
    colocalizes_with plasma membrane ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    rasGAP-activating-like protein 1
    Names
    ras GTPase-activating-like 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_001281999.2 → NP_001268928.1  rasGAP-activating-like protein 1 isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, initiates translation at an alternate start codon, and uses an alternate splice site in its 5' coding region compared to variant 1. The resulting isoform (2) has a shorter and distinct N-terminus compared to isoform 1.
      Source sequence(s)
      AC125183
      Conserved Domains (6) summary
      cd05135
      Location:80 → 366
      RasGAP_RASAL; Ras-GTPase Activating Domain of RASAL1 and similar proteins
      smart00323
      Location:60 → 422
      RasGAP; GTPase-activator protein for Ras-like GTPases
      pfam00169
      Location:384 → 490
      PH; PH domain
      pfam00779
      Location:499 → 526
      BTK; BTK motif
      cl14603
      Location:33 → 72
      C2; C2 domain
      cl17171
      Location:370 → 507
      PH-like; Pleckstrin homology-like domain

    2. NM_001359144.1 → NP_001346073.1  rasGAP-activating-like protein 1 isoform 1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1 and 3 both encode the same isoform (1).
      Source sequence(s)
      AC125183
      Consensus CDS
      CCDS19623.1
      UniProtKB/Swiss-Prot
      Q99K69, Q9Z268
      Conserved Domains (4) summary
      cd05135
      Location:262 → 548
      RasGAP_RASAL; Ras-GTPase Activating Domain of RASAL1 and similar proteins
      pfam00779
      Location:681 → 705
      BTK; BTK motif
      cl14603
      Location:6 → 126
      C2; C2 domain
      cl17171
      Location:552 → 689
      PH-like; Pleckstrin homology-like domain

    3. NM_001359145.1 → NP_001346074.1  rasGAP-activating-like protein 1 isoform 3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (3) is shorter at the N-terminus compared to isoform 1. Variants 4, 5, and 6 all encode the same isoform (3).
      Source sequence(s)
      AC125183
      Conserved Domains (4) summary
      cd05135
      Location:58 → 344
      RasGAP_RASAL; Ras-GTPase Activating Domain of RASAL1 and similar proteins
      pfam00779
      Location:477 → 501
      BTK; BTK motif
      cl14603
      Location:1 → 50
      C2; C2 domain
      cl17171
      Location:348 → 485
      PH-like; Pleckstrin homology-like domain

    4. NM_001359146.1 → NP_001346075.1  rasGAP-activating-like protein 1 isoform 3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (3) is shorter at the N-terminus compared to isoform 1. Variants 4, 5, and 6 all encode the same isoform (3).
      Source sequence(s)
      AC125183
      Conserved Domains (4) summary
      cd05135
      Location:58 → 344
      RasGAP_RASAL; Ras-GTPase Activating Domain of RASAL1 and similar proteins
      pfam00779
      Location:477 → 501
      BTK; BTK motif
      cl14603
      Location:1 → 50
      C2; C2 domain
      cl17171
      Location:348 → 485
      PH-like; Pleckstrin homology-like domain

    5. NM_001359147.1 → NP_001346076.1  rasGAP-activating-like protein 1 isoform 3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (6) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (3) is shorter at the N-terminus compared to isoform 1. Variants 4, 5, and 6 all encode the same isoform (3).
      Source sequence(s)
      AC125183
      Conserved Domains (4) summary
      cd05135
      Location:58 → 344
      RasGAP_RASAL; Ras-GTPase Activating Domain of RASAL1 and similar proteins
      pfam00779
      Location:477 → 501
      BTK; BTK motif
      cl14603
      Location:1 → 50
      C2; C2 domain
      cl17171
      Location:348 → 485
      PH-like; Pleckstrin homology-like domain

    6. NM_013832.5 → NP_038860.2  rasGAP-activating-like protein 1 isoform 1

      See identical proteins and their annotated locations for NP_038860.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1). Variants 1 and 3 both encode the same isoform (1).
      Source sequence(s)
      AC125183
      Consensus CDS
      CCDS19623.1
      UniProtKB/Swiss-Prot
      Q99K69, Q9Z268
      Related
      ENSMUSP00000031606.4, ENSMUST00000031606.10
      Conserved Domains (4) summary
      cd05135
      Location:262 → 548
      RasGAP_RASAL; Ras-GTPase Activating Domain of RASAL1 and similar proteins
      pfam00779
      Location:681 → 705
      BTK; BTK motif
      cl14603
      Location:6 → 126
      C2; C2 domain
      cl17171
      Location:552 → 689
      PH-like; Pleckstrin homology-like 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_000071.7 Reference GRCm39 C57BL/6J

      Range
      120786105..120817662
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_030254219.1 → XP_030110079.1  rasGAP-activating-like protein 1 isoform X2

      UniProtKB/Swiss-Prot
      Q99K69, Q9Z268
      Conserved Domains (4) summary
      cd05135
      Location:262 → 548
      RasGAP_RASAL; Ras-GTPase Activating Domain of RASAL1 and similar proteins
      pfam00779
      Location:681 → 705
      BTK; BTK motif
      cl14603
      Location:6 → 126
      C2; C2 domain
      cl17171
      Location:552 → 689
      PH-like; Pleckstrin homology-like domain

    2. XM_006530210.2 → XP_006530273.1  rasGAP-activating-like protein 1 isoform X2

      See identical proteins and their annotated locations for XP_006530273.1

      UniProtKB/Swiss-Prot
      Q99K69, Q9Z268
      Conserved Domains (4) summary
      cd05135
      Location:262 → 548
      RasGAP_RASAL; Ras-GTPase Activating Domain of RASAL1 and similar proteins
      pfam00779
      Location:681 → 705
      BTK; BTK motif
      cl14603
      Location:6 → 126
      C2; C2 domain
      cl17171
      Location:552 → 689
      PH-like; Pleckstrin homology-like domain

    3. XM_030254221.2 → XP_030110081.1  rasGAP-activating-like protein 1 isoform X4

      Conserved Domains (3) summary
      pfam00779
      Location:323 → 347
      BTK; BTK motif
      cl02569
      Location:1 → 190
      RasGAP; Ras GTPase Activating Domain
      cl17171
      Location:194 → 331
      PH-like; Pleckstrin homology-like domain

    4. XM_030254220.2 → XP_030110080.1  rasGAP-activating-like protein 1 isoform X3

      Conserved Domains (4) summary
      cd05135
      Location:58 → 344
      RasGAP_RASAL; Ras-GTPase Activating Domain of RASAL1 and similar proteins
      pfam00779
      Location:477 → 501
      BTK; BTK motif
      cl14603
      Location:1 → 50
      C2; C2 domain
      cl17171
      Location:348 → 485
      PH-like; Pleckstrin homology-like domain

    5. XM_006530208.3 → XP_006530271.2  rasGAP-activating-like protein 1 isoform X1

      Conserved Domains (4) summary
      cd05135
      Location:237 → 523
      RasGAP_RASAL; Ras-GTPase Activating Domain of RASAL1 and similar proteins
      pfam00779
      Location:656 → 680
      BTK; BTK motif
      cl14603
      Location:109 → 229
      C2; C2 domain
      cl17171
      Location:527 → 664
      PH-like; Pleckstrin homology-like domain

    RNA

    1. XR_003955601.1 RNA Sequence

    2. XR_004942463.1 RNA Sequence

    3. XR_003955600.2 RNA Sequence

    4. XR_003955599.2 RNA Sequence

    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9Z268.2 GenPept UniProtKB/Swiss-Prot:Q9Z268

    Gene LinkOut

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