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

Gene ID: 71704, updated on 28-Oct-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, Oct 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 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

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