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    Arhgef1 Rho guanine nucleotide exchange factor 1 [ Mus musculus (house mouse) ]

    Gene ID: 16801, updated on 9-Dec-2024

    Summary

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    Official Symbol
    Arhgef1provided by MGI
    Official Full Name
    Rho guanine nucleotide exchange factor 1provided by MGI
    Primary source
    MGI:MGI:1353510
    See related
    Ensembl:ENSMUSG00000040940 AllianceGenome:MGI:1353510
    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
    Lsc; Lbcl2
    Summary
    Predicted to enable G protein-coupled receptor binding activity and guanyl-nucleotide exchange factor activity. Predicted to be involved in G protein-coupled receptor signaling pathway and microtubule depolymerization. Predicted to be located in cytosol and plasma membrane. Predicted to be active in cytoplasm. Is expressed in several structures, including genitourinary system; liver; lung; spleen; and telencephalon. Human ortholog(s) of this gene implicated in immunodeficiency 62. Orthologous to human ARHGEF1 (Rho guanine nucleotide exchange factor 1). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Broad expression in thymus adult (RPKM 202.0), spleen adult (RPKM 157.1) and 26 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Arhgef1 in Genome Data Viewer
    Location:
    7 A3; 7 13.52 cM
    Exon count:
    33
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 7 NC_000073.7 (24601762..24626019)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 7 NC_000073.6 (24902986..24926594)

    Chromosome 7 - NC_000073.7Genomic Context describing neighboring genes Neighboring gene CapStarr-seq enhancer MGSCv37_chr7:25669584-25669693 Neighboring gene ribosomal protein S19 Neighboring gene STARR-positive B cell enhancer ABC_E10428 Neighboring gene STARR-positive B cell enhancer ABC_E1723 Neighboring gene CD79A antigen (immunoglobulin-associated alpha) Neighboring gene CapStarr-seq enhancers MGSCv37_chr7:25692211-25692364 and MGSCv37_chr7:25692403-25692604 Neighboring gene ETS repressor factor like Neighboring gene predicted gene, 36809

    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. Expression cloning of lsc, a novel oncogene with structural similarities to the Dbl family of guanine nucleotide exchange factors. Whitehead IP, et al. J Biol Chem, 1996 Aug 2. PMID 8702517
    2. Loss of Lsc/p115 protein leads to neuronal hypoplasia in the esophagus and an achalasia-like phenotype in mice. Zizer E, et al. Gastroenterology, 2010 Oct. PMID 20600037
    3. The Rho exchange factor Arhgef1 mediates the effects of angiotensin II on vascular tone and blood pressure. Guilluy C, et al. Nat Med, 2010 Feb. PMID 20098430
    4. Parameters underlying distinct T cell-dependent polysaccharide-specific IgG responses to an intact gram-positive bacterium versus a soluble conjugate vaccine. Colino J, et al. J Immunol, 2009 Aug 1. PMID 19570830
    5. Lsc activity is controlled by oligomerization and regulates integrin adhesion. Hu J, et al. Mol Immunol, 2008 Apr. PMID 18157933, Free PMC Article

    See all (65) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Arhgef1 plays a critical role in platelet function, in vitro and in vivo.
      Title: Arhgef1 Plays a Vital Role in Platelet Function and Thrombogenesis.
    2. data highlight the importance of Arhgef1 in cardiovascular disease and suggest targeting Arhgef1 as a potential therapeutic strategy against atherosclerosis.
      Title: Leukocyte RhoA exchange factor Arhgef1 mediates vascular inflammation and atherosclerosis.
    3. Arhgef1 controls the process of neurite formation in newborn cortical neurons derived from neural progenitor cells
      Title: Arhgef1 is expressed in cortical neural progenitor cells and regulates neurite outgrowth of newly differentiated neurons.
    4. these findings reveal that Arhgef1 functions as a negative regulator of neurite outgrowth through regulating RhoA-cofilin pathway and actin dynamics.
      Title: Arhgef1 negatively regulates neurite outgrowth through activation of RhoA signaling pathways.
    5. Upon beta(2)AR activation, both betaArrestin2 and p115RhoGEF translocate to the plasma membrane, with concomitant activation of RhoA and formation of focal adhesions and stress fibers.
      Title: Acute activation of β2-adrenergic receptor regulates focal adhesions through βArrestin2- and p115RhoGEF protein-mediated activation of RhoA.
    6. Thromboxane receptor signaling is required for fibronectin-induced matrix metalloproteinase 9 production by human and murine macrophages and is attenuated by the Arhgef1 molecule.
      Title: Thromboxane receptor signaling is required for fibronectin-induced matrix metalloproteinase 9 production by human and murine macrophages and is attenuated by the Arhgef1 molecule.
    7. Results show that PKC-alpha phosphorylation of p115RhoGEF mediates TNF-alpha signaling to RhoA, and that this plays a critical role in signaling F-actin rearrangement and barrier dysfunction in endothelial cells.
      Title: Protein kinase C-α signals P115RhoGEF phosphorylation and RhoA activation in TNF-α-induced mouse brain microvascular endothelial cell barrier dysfunction.
    8. lsc/p115 deficiency results in impaired neuronal innervation and in motor dysfunction recapitulating several aspects of esophageal achalasia.
      Title: Loss of Lsc/p115 protein leads to neuronal hypoplasia in the esophagus and an achalasia-like phenotype in mice.
    9. These data demonstrate that Arhgef1 regulates alpha5beta1-mediated MMP expression by macrophages and that loss of Arhgef1 by leukocytes leads to pulmonary pathology.
      Title: Arhgef1 regulates alpha5beta1 integrin-mediated matrix metalloproteinase expression and is required for homeostatic lung immunity.
    10. results show that control of RhoA signaling through Arhgef1 is central to the development of angiotensin II-dependent hypertension and identify Arhgef1 as a potential target for the treatment of hypertension
      Title: The Rho exchange factor Arhgef1 mediates the effects of angiotensin II on vascular tone and blood pressure.
    Submit: New GeneRIF Correction See all GeneRIFs (17)

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (3) 
    • Targeted (5)  1 citation

    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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    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables G protein-coupled receptor binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables G protein-coupled receptor binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables GTPase activator activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables guanyl-nucleotide exchange factor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables guanyl-nucleotide exchange factor activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in G protein-coupled receptor signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in G protein-coupled receptor signaling pathway IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in microtubule depolymerization ISO
    Inferred from Sequence Orthology
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytosol IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cytosol ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in plasma membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in plasma membrane ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    rho guanine nucleotide exchange factor 1
    Names
    Rho guanine nucleotide exchange factor (GEF) 1
    lbc's second cousin
    lymphoid blast crisis-like 2

    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_001130150.2 → NP_001123622.1  rho guanine nucleotide exchange factor 1 isoform a

      See identical proteins and their annotated locations for NP_001123622.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (a).
      Source sequence(s)
      AC161441
      Consensus CDS
      CCDS52142.1
      UniProtKB/TrEMBL
      Q6KAM6
      Related
      ENSMUSP00000096280.5, ENSMUST00000098683.11
      Conserved Domains (4) summary
      cd08755
      Location:50 → 242
      RGS_p115RhoGEF; Regulator of G protein signaling (RGS) domain found in the Rho guanine nucleotide exchange factor (GEF), p115 RhoGEF
      smart00325
      Location:478 → 662
      RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases
      PRK14086
      Location:275 → 451
      dnaA; chromosomal replication initiator protein DnaA
      cd14679
      Location:696 → 820
      PH_p115RhoGEF; Rho guanine nucleotide exchange factor Pleckstrin homology domain

    2. NM_001130151.2 → NP_001123623.1  rho guanine nucleotide exchange factor 1 isoform b

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site and lacks an alternate in-frame exon in the mid coding region, compared to variant 1. The resulting isoform (b) is shorter than isoform a. Variants 2 and 6-8 all encode the same isoform (b).
      Source sequence(s)
      AC161441
      Consensus CDS
      CCDS52140.1
      UniProtKB/TrEMBL
      E9PUF7, Q6KAM6
      Related
      ENSMUSP00000113771.2, ENSMUST00000117796.8
      Conserved Domains (4) summary
      cd08755
      Location:50 → 242
      RGS_p115RhoGEF; Regulator of G protein signaling (RGS) domain found in the Rho guanine nucleotide exchange factor (GEF), p115 RhoGEF
      smart00325
      Location:475 → 659
      RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases
      PHA03247
      Location:277 → 458
      PHA03247; large tegument protein UL36; Provisional
      cd14679
      Location:693 → 817
      PH_p115RhoGEF; Rho guanine nucleotide exchange factor Pleckstrin homology domain

    3. NM_001130152.2 → NP_001123624.1  rho guanine nucleotide exchange factor 1 isoform c

      See identical proteins and their annotated locations for NP_001123624.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR, and uses an alternate in-frame splice site and lacks two alternate in-frame exons in the mid coding region, compared to variant 1. The resulting isoform (c) is shorter than isoform a. Variants 3, 4, and 9 all encode the same isoform (c).
      Source sequence(s)
      AC161441
      Consensus CDS
      CCDS52141.1
      UniProtKB/Swiss-Prot
      O89074, Q3T9Q7, Q61210, Q80YE8, Q80YE9, Q91VL3
      UniProtKB/TrEMBL
      Q6KAM6
      Related
      ENSMUSP00000113366.2, ENSMUST00000117419.8
      Conserved Domains (4) summary
      pfam05887
      Location:304 → 409
      Trypan_PARP; Procyclic acidic repetitive protein (PARP)
      cd08755
      Location:50 → 242
      RGS_p115RhoGEF; Regulator of G protein signaling (RGS) domain found in the Rho guanine nucleotide exchange factor (GEF), p115 RhoGEF
      smart00325
      Location:419 → 603
      RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases
      cd14679
      Location:637 → 761
      PH_p115RhoGEF; Rho guanine nucleotide exchange factor Pleckstrin homology domain

    4. NM_001130153.2 → NP_001123625.1  rho guanine nucleotide exchange factor 1 isoform c

      See identical proteins and their annotated locations for NP_001123625.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) uses an alternate in-frame splice site and lacks two alternate in-frame exons in the mid coding region, compared to variant 1. The resulting isoform (c) is shorter than isoform a. Variants 3, 4, and 9 all encode the same isoform (c).
      Source sequence(s)
      AC161441
      Consensus CDS
      CCDS52141.1
      UniProtKB/Swiss-Prot
      O89074, Q3T9Q7, Q61210, Q80YE8, Q80YE9, Q91VL3
      UniProtKB/TrEMBL
      Q6KAM6
      Related
      ENSMUSP00000046469.10, ENSMUST00000047873.16
      Conserved Domains (4) summary
      pfam05887
      Location:304 → 409
      Trypan_PARP; Procyclic acidic repetitive protein (PARP)
      cd08755
      Location:50 → 242
      RGS_p115RhoGEF; Regulator of G protein signaling (RGS) domain found in the Rho guanine nucleotide exchange factor (GEF), p115 RhoGEF
      smart00325
      Location:419 → 603
      RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases
      cd14679
      Location:637 → 761
      PH_p115RhoGEF; Rho guanine nucleotide exchange factor Pleckstrin homology domain

    5. NM_001412640.1 → NP_001399569.1  rho guanine nucleotide exchange factor 1 isoform b

      Status: VALIDATED

      Source sequence(s)
      AC161441
      UniProtKB/TrEMBL
      E9PUF7, Q6KAM6

    6. NM_001412641.1 → NP_001399570.1  rho guanine nucleotide exchange factor 1 isoform b

      Status: VALIDATED

      Source sequence(s)
      AC161441
      UniProtKB/TrEMBL
      E9PUF7, Q6KAM6

    7. NM_001412642.1 → NP_001399571.1  rho guanine nucleotide exchange factor 1 isoform b

      Status: VALIDATED

      Source sequence(s)
      AC161441
      UniProtKB/TrEMBL
      E9PUF7, Q6KAM6

    8. NM_001412643.1 → NP_001399572.1  rho guanine nucleotide exchange factor 1 isoform c

      Status: VALIDATED

      Source sequence(s)
      AC161441
      UniProtKB/Swiss-Prot
      O89074, Q3T9Q7, Q61210, Q80YE8, Q80YE9, Q91VL3
      UniProtKB/TrEMBL
      Q6KAM6

    9. NM_001412644.1 → NP_001399573.1  rho guanine nucleotide exchange factor 1 isoform d

      Status: VALIDATED

      Source sequence(s)
      AC161441
      UniProtKB/TrEMBL
      Q6KAM6

    10. NM_001412645.1 → NP_001399574.1  rho guanine nucleotide exchange factor 1 isoform e

      Status: VALIDATED

      Source sequence(s)
      AC161441
      UniProtKB/TrEMBL
      Q6KAM6
      Related
      ENSMUST00000145783.8

    11. NM_001412646.1 → NP_001399575.1  rho guanine nucleotide exchange factor 1 isoform e

      Status: VALIDATED

      Source sequence(s)
      AC161441
      UniProtKB/TrEMBL
      Q6KAM6

    12. NM_001412647.1 → NP_001399576.1  rho guanine nucleotide exchange factor 1 isoform f

      Status: VALIDATED

      Source sequence(s)
      AC161441
      UniProtKB/TrEMBL
      Q6KAM6

    13. NM_001412648.1 → NP_001399577.1  rho guanine nucleotide exchange factor 1 isoform g

      Status: VALIDATED

      Source sequence(s)
      AC161441
      UniProtKB/TrEMBL
      Q6KAM6

    14. NM_001412649.1 → NP_001399578.1  rho guanine nucleotide exchange factor 1 isoform g

      Status: VALIDATED

      Source sequence(s)
      AC161441
      UniProtKB/TrEMBL
      Q6KAM6

    15. NM_008488.3 → NP_032514.1  rho guanine nucleotide exchange factor 1 isoform d

      See identical proteins and their annotated locations for NP_032514.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) lacks two alternate in-frame exons in the mid coding region, compared to variant 1. The resulting isoform (d) is shorter than isoform a. Variants 5 and 10 both encode the same isoform (d).
      Source sequence(s)
      AC161441
      Consensus CDS
      CCDS85239.1
      UniProtKB/TrEMBL
      Q6KAM6
      Related
      ENSMUSP00000146314.2, ENSMUST00000206508.2
      Conserved Domains (4) summary
      pfam05887
      Location:303 → 408
      Trypan_PARP; Procyclic acidic repetitive protein (PARP)
      cd08755
      Location:50 → 242
      RGS_p115RhoGEF; Regulator of G protein signaling (RGS) domain found in the Rho guanine nucleotide exchange factor (GEF), p115 RhoGEF
      smart00325
      Location:418 → 602
      RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases
      cd14679
      Location:636 → 760
      PH_p115RhoGEF; Rho guanine nucleotide exchange factor Pleckstrin homology domain

    RNA

    1. NR_182017.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC161441

    2. NR_182018.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC161441

    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_000073.7 Reference GRCm39 C57BL/6J

      Range
      24601762..24626019
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_036152721.1 → XP_036008614.1  rho guanine nucleotide exchange factor 1 isoform X1

      UniProtKB/TrEMBL
      Q6KAM6
      Conserved Domains (4) summary
      cd08755
      Location:50 → 242
      RGS_p115RhoGEF; Regulator of G protein signaling (RGS) domain found in the Rho guanine nucleotide exchange factor (GEF), p115 RhoGEF
      smart00325
      Location:479 → 663
      RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases
      PHA03247
      Location:277 → 462
      PHA03247; large tegument protein UL36; Provisional
      cd14679
      Location:697 → 821
      PH_p115RhoGEF; Rho guanine nucleotide exchange factor Pleckstrin homology domain

    2. XM_017322003.1 → XP_017177492.1  rho guanine nucleotide exchange factor 1 isoform X1

      UniProtKB/TrEMBL
      Q6KAM6
      Conserved Domains (4) summary
      cd08755
      Location:50 → 242
      RGS_p115RhoGEF; Regulator of G protein signaling (RGS) domain found in the Rho guanine nucleotide exchange factor (GEF), p115 RhoGEF
      smart00325
      Location:479 → 663
      RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases
      PHA03247
      Location:277 → 462
      PHA03247; large tegument protein UL36; Provisional
      cd14679
      Location:697 → 821
      PH_p115RhoGEF; Rho guanine nucleotide exchange factor Pleckstrin homology domain

    3. XM_030242173.1 → XP_030098033.1  rho guanine nucleotide exchange factor 1 isoform X2

      UniProtKB/TrEMBL
      Q6KAM6
      Conserved Domains (4) summary
      cd08755
      Location:50 → 242
      RGS_p115RhoGEF; Regulator of G protein signaling (RGS) domain found in the Rho guanine nucleotide exchange factor (GEF), p115 RhoGEF
      smart00325
      Location:478 → 662
      RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases
      PRK14086
      Location:275 → 451
      dnaA; chromosomal replication initiator protein DnaA
      cd14679
      Location:696 → 820
      PH_p115RhoGEF; Rho guanine nucleotide exchange factor Pleckstrin homology domain

    4. XM_006539565.4 → XP_006539628.1  rho guanine nucleotide exchange factor 1 isoform X1

      See identical proteins and their annotated locations for XP_006539628.1

      UniProtKB/TrEMBL
      Q6KAM6
      Conserved Domains (4) summary
      cd08755
      Location:50 → 242
      RGS_p115RhoGEF; Regulator of G protein signaling (RGS) domain found in the Rho guanine nucleotide exchange factor (GEF), p115 RhoGEF
      smart00325
      Location:479 → 663
      RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases
      PHA03247
      Location:277 → 462
      PHA03247; large tegument protein UL36; Provisional
      cd14679
      Location:697 → 821
      PH_p115RhoGEF; Rho guanine nucleotide exchange factor Pleckstrin homology domain

    RNA

    1. XR_004934023.1 RNA Sequence

    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q61210.2 GenPept UniProtKB/Swiss-Prot:Q61210

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