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    Arhgef3 Rho guanine nucleotide exchange factor 3 [ Mus musculus (house mouse) ]

    Gene ID: 71704, updated on 9-Dec-2024

    Summary

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    Official Symbol
    Arhgef3provided by MGI
    Official Full Name
    Rho guanine nucleotide exchange factor 3provided by MGI
    Primary source
    MGI:MGI:1918954
    See related
    Ensembl:ENSMUSG00000021895 AllianceGenome:MGI:1918954
    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
    Xpln; 1200004I24Rik; 9830169H03Rik
    Summary
    Predicted to enable guanyl-nucleotide exchange factor activity. Predicted to be involved in positive regulation of Rho protein signal transduction. Predicted to be located in cytoplasm. Is expressed in several structures, including bone marrow; enteric nervous system; forelimb bud; liver; and testis. Orthologous to human ARHGEF3 (Rho guanine nucleotide exchange factor 3). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in lung adult (RPKM 12.9), bladder adult (RPKM 8.6) and 28 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Arhgef3 in Genome Data Viewer
    Location:
    14 A3; 14 16.09 cM
    Exon count:
    20
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 14 NC_000080.7 (26836418..27125873)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 14 NC_000080.6 (27114461..27403916)

    Chromosome 14 - NC_000080.7Genomic Context describing neighboring genes Neighboring gene STARR-positive B cell enhancer mm9_chr14:27843023-27843323 Neighboring gene STARR-seq mESC enhancer starr_36253 Neighboring gene homeobox gene expressed in ES cells Neighboring gene interleukin 17 receptor D Neighboring gene STARR-seq mESC enhancer starr_36262 Neighboring gene STARR-seq mESC enhancer starr_36263 Neighboring gene CapStarr-seq enhancer MGSCv37_chr14:28044030-28044193 Neighboring gene predicted gene 7591 Neighboring gene STARR-seq mESC enhancer starr_36265 Neighboring gene predicted gene, 34848 Neighboring gene predicted gene, 34754 Neighboring gene STARR-seq mESC enhancer starr_36267 Neighboring gene STARR-positive B cell enhancer ABC_E11566 Neighboring gene STARR-seq mESC enhancer starr_36270 Neighboring gene STARR-seq mESC enhancer starr_36271 Neighboring gene STARR-positive B cell enhancer ABC_E1891 Neighboring gene predicted gene, 52096 Neighboring gene predicted gene, 34702 Neighboring gene STARR-seq mESC enhancer starr_36272 Neighboring gene STARR-seq mESC enhancer starr_36273 Neighboring gene transcription activation suppressor Neighboring gene STARR-positive B cell enhancer ABC_E8897 Neighboring gene STARR-seq mESC enhancer starr_36274 Neighboring gene STARR-seq mESC enhancer starr_36275 Neighboring gene coiled-coil domain containing 66 Neighboring gene predicted gene, 25697

    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. ARHGEF3 Regulates Skeletal Muscle Regeneration and Strength through Autophagy. You JS, et al. Cell Rep, 2021 Jan 5. PMID 33406419, Free PMC Article
    2. Structure of the Rho-specific guanine nucleotide-exchange factor Xpln. Murayama K, et al. Acta Crystallogr Sect F Struct Biol Cryst Commun, 2012 Dec 1. PMID 23192023, Free PMC Article
    3. Disrupting RhoA activity by blocking Arhgef3 expression mitigates microglia-induced neuroinflammation post spinal cord contusion. Liao L, et al. J Neuroimmunol, 2021 Oct 15. PMID 34390950
    4. XPLN is an endogenous inhibitor of mTORC2. Khanna N, et al. Proc Natl Acad Sci U S A, 2013 Oct 1. PMID 24043828, Free PMC Article
    5. RhoA/ROCK signalling activated by ARHGEF3 promotes muscle weakness via autophagy in dystrophic mdx mice. You JS, et al. J Cachexia Sarcopenia Muscle, 2023 Aug. PMID 37311604, Free PMC Article

    See all (32) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. RhoA/ROCK signalling activated by ARHGEF3 promotes muscle weakness via autophagy in dystrophic mdx mice.
      Title: RhoA/ROCK signalling activated by ARHGEF3 promotes muscle weakness via autophagy in dystrophic mdx mice.
    2. Disrupting RhoA activity by blocking Arhgef3 expression mitigates microglia-induced neuroinflammation post spinal cord contusion.
      Title: Disrupting RhoA activity by blocking Arhgef3 expression mitigates microglia-induced neuroinflammation post spinal cord contusion.
    3. ARHGEF3 Regulates Skeletal Muscle Regeneration and Strength through Autophagy.
      Title: ARHGEF3 Regulates Skeletal Muscle Regeneration and Strength through Autophagy.
    4. Data suggest that modulation of ARHGEF3 gene expression in humans with a promoter-localized SNP plays a role in human megakaryocytes and human platelet function-a finding resulting from the biological follow-up of human genetic studies. Arhgef3 KO mice partially recapitulate the human phenotype.
      Title: SNP in human ARHGEF3 promoter is associated with DNase hypersensitivity, transcript level and platelet function, and Arhgef3 KO mice have increased mean platelet volume.
    5. the crystal structure of the tandemly arranged DH-PH domains of mouse Xpln, with a single molecule in the asymmetric unit, was determined at 1.79 A resolution (Xpln)
      Title: Structure of the Rho-specific guanine nucleotide-exchange factor Xpln.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (3)  1 citation
    • Targeted (1) 

    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 guanyl-nucleotide exchange factor activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in intracellular signal transduction IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of Rho protein signal transduction IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    rho guanine nucleotide exchange factor 3
    Names
    Rho guanine nucleotide exchange factor (GEF) 3

    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_001289686.1 → NP_001276615.1  rho guanine nucleotide exchange factor 3 isoform 1

      See identical proteins and their annotated locations for NP_001276615.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AC140462, AI853706, AK004600, AK029872
      Consensus CDS
      CCDS88605.1
      UniProtKB/TrEMBL
      A0A286YDE6
      Related
      ENSMUSP00000153396.2, ENSMUST00000225949.2
      Conserved Domains (2) summary
      cd10572
      Location:342 → 474
      PH_RhoGEF3_XPLN; Rho guanine nucleotide exchange factor 3 Pleckstrin homology (PH) domain
      pfam00621
      Location:152 → 328
      RhoGEF; RhoGEF domain

    2. NM_001289687.1 → NP_001276616.1  rho guanine nucleotide exchange factor 3 isoform 3

      See identical proteins and their annotated locations for NP_001276616.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) has multiple differences at its 5' end, compared to variant 1. These differences result in a distinct 5' UTR and cause translation initiation at a downstream start codon, compared to variant 1. The encoded protein (isoform 3) is shorter and has a distinct N-terminus, compared to isoform 1.
      Source sequence(s)
      AC154327, AI853706, AK004600, CD539300
      Consensus CDS
      CCDS88606.1
      UniProtKB/Swiss-Prot
      Q8CDM0, Q91VY4, Q91X46, Q99K14, Q9DC31
      UniProtKB/TrEMBL
      A0A2X0SFN9
      Related
      ENSMUSP00000153124.2, ENSMUST00000224981.2
      Conserved Domains (2) summary
      smart00325
      Location:125 → 301
      RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases
      cd10572
      Location:315 → 447
      PH_RhoGEF3_XPLN; Rho guanine nucleotide exchange factor 3 Pleckstrin homology (PH) domain

    3. NM_001289688.1 → NP_001276617.1  rho guanine nucleotide exchange factor 3 isoform 4

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) has multiple differences at its 5' end, compared to variant 1. These differences result in a distinct 5' UTR and cause translation initiation at a downstream start codon, compared to variant 1. The encoded protein (isoform 4) is shorter and has a distinct N-terminus, compared to isoform 1.
      Source sequence(s)
      AI853706, AK004600, BM963858
      UniProtKB/Swiss-Prot
      Q91X46
      Conserved Domains (2) summary
      cd10572
      Location:321 → 453
      PH_RhoGEF3_XPLN; Rho guanine nucleotide exchange factor 3 Pleckstrin homology (PH) domain
      pfam00621
      Location:131 → 307
      RhoGEF; RhoGEF domain

    4. NM_027871.2 → NP_082147.1  rho guanine nucleotide exchange factor 3 isoform 2

      See identical proteins and their annotated locations for NP_082147.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) has multiple differences at its 5' end, compared to variant 1. These differences result in a distinct 5' UTR and cause translation initiation at a downstream start codon, compared to variant 1. The encoded protein (isoform 2) is shorter and has a distinct N-terminus, compared to isoform 1.
      Source sequence(s)
      AI853706, AK004600, BY224523
      Consensus CDS
      CCDS26886.1
      UniProtKB/Swiss-Prot
      Q91X46
      Related
      ENSMUSP00000046486.6, ENSMUST00000049206.6
      Conserved Domains (2) summary
      cd10572
      Location:322 → 454
      PH_RhoGEF3_XPLN; Rho guanine nucleotide exchange factor 3 Pleckstrin homology (PH) domain
      pfam00621
      Location:132 → 308
      RhoGEF; RhoGEF 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_000080.7 Reference GRCm39 C57BL/6J

      Range
      26836418..27125873
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006519579.5 → XP_006519642.1  rho guanine nucleotide exchange factor 3 isoform X1

      See identical proteins and their annotated locations for XP_006519642.1

      UniProtKB/TrEMBL
      A0A286YDE6
      Conserved Domains (2) summary
      cd10572
      Location:342 → 474
      PH_RhoGEF3_XPLN; Rho guanine nucleotide exchange factor 3 Pleckstrin homology (PH) domain
      pfam00621
      Location:152 → 328
      RhoGEF; RhoGEF domain

    2. XM_006519575.4 → XP_006519638.1  rho guanine nucleotide exchange factor 3 isoform X1

      See identical proteins and their annotated locations for XP_006519638.1

      UniProtKB/TrEMBL
      A0A286YDE6
      Conserved Domains (2) summary
      cd10572
      Location:342 → 474
      PH_RhoGEF3_XPLN; Rho guanine nucleotide exchange factor 3 Pleckstrin homology (PH) domain
      pfam00621
      Location:152 → 328
      RhoGEF; RhoGEF domain

    3. XM_006519574.5 → XP_006519637.1  rho guanine nucleotide exchange factor 3 isoform X1

      See identical proteins and their annotated locations for XP_006519637.1

      UniProtKB/TrEMBL
      A0A286YDE6
      Conserved Domains (2) summary
      cd10572
      Location:342 → 474
      PH_RhoGEF3_XPLN; Rho guanine nucleotide exchange factor 3 Pleckstrin homology (PH) domain
      pfam00621
      Location:152 → 328
      RhoGEF; RhoGEF domain

    4. XM_006519576.4 → XP_006519639.1  rho guanine nucleotide exchange factor 3 isoform X2

      Conserved Domains (2) summary
      cd10572
      Location:330 → 462
      PH_RhoGEF3_XPLN; Rho guanine nucleotide exchange factor 3 Pleckstrin homology (PH) domain
      pfam00621
      Location:140 → 316
      RhoGEF; RhoGEF domain

    5. XM_006519580.5 → XP_006519643.1  rho guanine nucleotide exchange factor 3 isoform X3

      Conserved Domains (2) summary
      cd10572
      Location:165 → 297
      PH_RhoGEF3_XPLN; Rho guanine nucleotide exchange factor 3 Pleckstrin homology (PH) domain
      pfam00621
      Location:1 → 151
      RhoGEF; RhoGEF domain
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q91X46.1 GenPept UniProtKB/Swiss-Prot:Q91X46

    Gene LinkOut

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