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

Gene ID: 16801, updated on 21-Apr-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; GTPase activator activity; and guanyl-nucleotide exchange factor activity. Predicted to be involved in negative regulation of cell death. Predicted to be located in cytosol and plasma membrane. Is expressed in brain and heart. 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, Apr 2022]
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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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. 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
  2. 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
  3. 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
  4. Lsc activity is controlled by oligomerization and regulates integrin adhesion. Hu J, et al. Mol Immunol, 2008 Apr. PMID 18157933, Free PMC Article
  5. Arhgef1 is required by T cells for the development of airway hyperreactivity and inflammation. Brown JP, et al. Am J Respir Crit Care Med, 2007 Jul 1. PMID 17463415, Free PMC Article

See all (59) 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)
  • Targeted (5)  1 citation
  • Endonuclease-mediated (3) 

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 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 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 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 ISO
Inferred from Sequence Orthology
more info
  
located_in 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

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

    Status: VALIDATED

    Source sequence(s)
    AC161441
    UniProtKB/TrEMBL
    E9PUF7

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

    Status: VALIDATED

    Source sequence(s)
    AC161441
    UniProtKB/TrEMBL
    E9PUF7

  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

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

    Status: VALIDATED

    Source sequence(s)
    AC161441

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

    Status: VALIDATED

    Source sequence(s)
    AC161441
    Related
    ENSMUST00000145783.8

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

    Status: VALIDATED

    Source sequence(s)
    AC161441

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

    Status: VALIDATED

    Source sequence(s)
    AC161441

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

    Status: VALIDATED

    Source sequence(s)
    AC161441

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

    Status: VALIDATED

    Source sequence(s)
    AC161441

  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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