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    Arhgef6 Rac/Cdc42 guanine nucleotide exchange factor 6 [ Mus musculus (house mouse) ]

    Gene ID: 73341, updated on 11-Apr-2024

    Summary

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    Official Symbol
    Arhgef6provided by MGI
    Official Full Name
    Rac/Cdc42 guanine nucleotide exchange factor 6provided by MGI
    Primary source
    MGI:MGI:1920591
    See related
    Ensembl:ENSMUSG00000031133 AllianceGenome:MGI:1920591
    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
    alpha-PIX; 1600028C08Rik; 1700038J06Rik; 4930592P22Rik
    Summary
    Predicted to enable guanyl-nucleotide exchange factor activity. Involved in lamellipodium assembly. Located in cell-cell junction and lamellipodium. Is expressed in somite and unsegmented mesenchyme. Human ortholog(s) of this gene implicated in intellectual disability and non-syndromic X-linked intellectual disability 46. Orthologous to human ARHGEF6 (Rac/Cdc42 guanine nucleotide exchange factor 6). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Biased expression in placenta adult (RPKM 38.2), thymus adult (RPKM 12.8) and 12 other tissues See more
    Orthologs
    human all
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    Genomic context

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    Location:
    X A6; X 31.26 cM
    Exon count:
    26
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) X NC_000086.8 (56276845..56384119, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) X NC_000086.7 (57231485..57338758, complement)

    Chromosome X - NC_000086.8Genomic Context describing neighboring genes Neighboring gene predicted gene 14718 Neighboring gene CD40 ligand Neighboring gene STARR-positive B cell enhancer ABC_E7690 Neighboring gene STARR-seq mESC enhancer starr_47212 Neighboring gene STARR-positive B cell enhancer ABC_E7691 Neighboring gene CapStarr-seq enhancer MGSCv37_chrX:54563182-54563369 Neighboring gene STARR-seq mESC enhancer starr_47213 Neighboring gene STARR-seq mESC enhancer starr_47214 Neighboring gene small nucleolar RNA, C/D box 61 Neighboring gene RNA binding motif protein, X chromosome Neighboring gene transmembrane 9 superfamily member 5

    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. Arhgef6 (alpha-PIX) cytoskeletal regulator signals to GTPases and Cofilin to couple T cell migration speed and persistence. Mamula D, et al. J Leukoc Biol, 2021 Nov. PMID 33527537
    2. Dysregulation of Rho GTPases in the αPix/Arhgef6 mouse model of X-linked intellectual disability is paralleled by impaired structural and synaptic plasticity and cognitive deficits. Ramakers GJ, et al. Hum Mol Genet, 2012 Jan 15. PMID 21989057
    3. The mouse Arhgef6 gene: cDNA sequence, expression analysis, and chromosome assignment. Kutsche K, et al. Cytogenet Cell Genet, 2001. PMID 12063400
    4. Genetic Variants in ARHGEF6 Cause Congenital Anomalies of the Kidneys and Urinary Tract in Humans, Mice, and Frogs. Klämbt V, et al. J Am Soc Nephrol, 2023 Feb 1. PMID 36414417, Free PMC Article
    5. The opposing forces of shear flow and sphingosine-1-phosphate control marginal zone B cell shuttling. Tedford K, et al. Nat Commun, 2017 Dec 22. PMID 29273735, Free PMC Article

    See all (40) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Genetic Variants in ARHGEF6 Cause Congenital Anomalies of the Kidneys and Urinary Tract in Humans, Mice, and Frogs.
      Title: Genetic Variants in ARHGEF6 Cause Congenital Anomalies of the Kidneys and Urinary Tract in Humans, Mice, and Frogs.
    2. Arhgef6 (alpha-PIX) cytoskeletal regulator signals to GTPases and Cofilin to couple T cell migration speed and persistence.
      Title: Arhgef6 (alpha-PIX) cytoskeletal regulator signals to GTPases and Cofilin to couple T cell migration speed and persistence.
    3. this study has identified a new role for Parvin and alphaPix downstream of the integrin-ILK signaling axis for mammary epithelial cell differentiation.
      Title: The Integrin-Mediated ILK-Parvin-αPix Signaling Axis Controls Differentiation in Mammary Epithelial Cells.
    4. Enforced expression of miR-135a in highly tumorigenic cancer stem cells strongly inhibited tumorigenesis by repressing the miR-135a direct target gene Arhgef6.
      Title: miR-135a Inhibits Cancer Stem Cell-Driven Medulloblastoma Development by Directly Repressing Arhgef6 Expression.
    5. Results indicate Arhgef6 (alphaPIX) as a regulator of thymocyte migration and subsequent arrest that is linked to positive selection.
      Title: αPIX RhoGEF supports positive selection by restraining migration and promoting arrest of thymocytes.
    6. alphaPIX and GIT2 are required for neuronal differentiation.
      Title: Biochemical and functional characterisation of αPIX, a specific regulator of axonal and dendritic branching in hippocampal neurons.
    7. suggest that imbalance in activity of different Rho GTPases may underlie altered neuronal connectivity and impaired synaptic function and cognition in alphaPix/Arhgef6 knockout mice
      Title: Dysregulation of Rho GTPases in the αPix/Arhgef6 mouse model of X-linked intellectual disability is paralleled by impaired structural and synaptic plasticity and cognitive deficits.
    8. These results reveal specific roles for alphaPIX in the immune system and suggest that redundancy with betaPIX precludes a more severe immune phenotype.
      Title: AlphaPIX Rho GTPase guanine nucleotide exchange factor regulates lymphocyte functions and antigen receptor signaling.
    9. ARHGEF6 is localized in dendritic spines where it contributes to regulate dendritic spine morphogenesis.
      Title: Sequential implication of the mental retardation proteins ARHGEF6 and PAK3 in spine morphogenesis.
    10. The mouse Arhgef6 gene: cDNA sequence, expression analysis, and X chromosome assignment.
      Title: The mouse Arhgef6 gene: cDNA sequence, expression analysis, and chromosome assignment.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Targeted (4)  1 citation
    • Endonuclease-mediated (2) 

    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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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    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 intracellular signal transduction IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in lamellipodium assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in lamellipodium assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in cell projection IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cell-cell junction IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in lamellipodium IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in lamellipodium IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    rho guanine nucleotide exchange factor 6
    Names
    Rac/Cdc42 guanine exchange factor (GEF) 6
    Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6
    alpha PIX Rho GTPase guanine nucleotide exchange factor

    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_001358573.2 → NP_001345502.1  rho guanine nucleotide exchange factor 6 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AL672106, AL672128
      Conserved Domains (5) summary
      cd12060
      Location:8 → 64
      SH3_alphaPIX; Src Homology 3 domain of alpha-Pak Interactive eXchange factor
      cd00160
      Location:88 → 265
      RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases; Also called Dbl-homologous (DH) domain. It appears that PH domains invariably occur C-terminal to RhoGEF/DH domains.
      cd01225
      Location:296 → 394
      PH_Cool_Pix; Cloned out of library/PAK-interactive exchange factor pleckstrin homology (PH) domain
      pfam16614
      Location:420 → 520
      RhoGEF67_u2; Unstructured region two on RhoGEF 6 and 7
      pfam16523
      Location:523 → 609
      betaPIX_CC; betaPIX coiled coil

    2. NM_001405168.1 → NP_001392097.1  rho guanine nucleotide exchange factor 6 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AL672106, AL672128

    3. NM_001405169.1 → NP_001392098.1  rho guanine nucleotide exchange factor 6 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AL672106, AL672128

    4. NM_001405170.1 → NP_001392099.1  rho guanine nucleotide exchange factor 6 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AL672106, AL672128

    5. NM_001405171.1 → NP_001392100.1  rho guanine nucleotide exchange factor 6 isoform 4

      Status: VALIDATED

      Source sequence(s)
      AL672106, AL672128

    6. NM_001405172.1 → NP_001392101.1  rho guanine nucleotide exchange factor 6 isoform 4

      Status: VALIDATED

      Source sequence(s)
      AL672106, AL672128

    7. NM_001405173.1 → NP_001392102.1  rho guanine nucleotide exchange factor 6 isoform 5

      Status: VALIDATED

      Source sequence(s)
      AL672106, AL672128

    8. NM_001405174.1 → NP_001392103.1  rho guanine nucleotide exchange factor 6 isoform 6

      Status: VALIDATED

      Source sequence(s)
      AL672106, AL672128

    9. NM_001405175.1 → NP_001392104.1  rho guanine nucleotide exchange factor 6 isoform 7

      Status: VALIDATED

      Source sequence(s)
      AL672128
      UniProtKB/TrEMBL
      A2AFJ8
      Related
      ENSMUSP00000110383.3, ENSMUST00000114735.9

    10. NM_001405176.1 → NP_001392105.1  rho guanine nucleotide exchange factor 6 isoform 8

      Status: VALIDATED

      Source sequence(s)
      AL672128

    11. NM_152801.3 → NP_690014.3  rho guanine nucleotide exchange factor 6 isoform 1

      Status: VALIDATED

      Source sequence(s)
      AL672106, AL672128
      Consensus CDS
      CCDS40984.2
      UniProtKB/Swiss-Prot
      Q8C9V4, Q8K4I3
      Related
      ENSMUSP00000033468.6, ENSMUST00000033468.11

    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_000086.8 Reference GRCm39 C57BL/6J

      Range
      56276845..56384119 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006528314.4 → XP_006528377.1  rho guanine nucleotide exchange factor 6 isoform X2

      UniProtKB/TrEMBL
      F6WMJ3
      Conserved Domains (7) summary
      cd12060
      Location:185 → 241
      SH3_alphaPIX; Src Homology 3 domain of alpha-Pak Interactive eXchange factor
      cd00160
      Location:265 → 442
      RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases; Also called Dbl-homologous (DH) domain. It appears that PH domains invariably occur C-terminal to RhoGEF/DH domains.
      cd01225
      Location:473 → 571
      PH_Cool_Pix; Cloned out of library/PAK-interactive exchange factor pleckstrin homology (PH) domain
      pfam00307
      Location:27 → 129
      CH; Calponin homology (CH) domain
      pfam16523
      Location:658 → 744
      betaPIX_CC; betaPIX coiled coil
      pfam16614
      Location:592 → 655
      RhoGEF67_u2; Unstructured region two on RhoGEF 6 and 7
      pfam16615
      Location:139 → 183
      RhoGEF67_u1; Unstructured region one on RhoGEF 6 and 7

    2. XM_006528315.4 → XP_006528378.1  rho guanine nucleotide exchange factor 6 isoform X3

      UniProtKB/TrEMBL
      F6WMJ3
      Conserved Domains (7) summary
      cd12060
      Location:185 → 241
      SH3_alphaPIX; Src Homology 3 domain of alpha-Pak Interactive eXchange factor
      cd00160
      Location:265 → 442
      RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases; Also called Dbl-homologous (DH) domain. It appears that PH domains invariably occur C-terminal to RhoGEF/DH domains.
      cd01225
      Location:473 → 571
      PH_Cool_Pix; Cloned out of library/PAK-interactive exchange factor pleckstrin homology (PH) domain
      pfam00307
      Location:27 → 129
      CH; Calponin homology (CH) domain
      pfam16523
      Location:651 → 737
      betaPIX_CC; betaPIX coiled coil
      pfam16614
      Location:595 → 648
      RhoGEF67_u2; Unstructured region two on RhoGEF 6 and 7
      pfam16615
      Location:139 → 183
      RhoGEF67_u1; Unstructured region one on RhoGEF 6 and 7

    3. XM_036162109.1 → XP_036018002.1  rho guanine nucleotide exchange factor 6 isoform X4

      Conserved Domains (5) summary
      cd12060
      Location:8 → 64
      SH3_alphaPIX; Src Homology 3 domain of alpha-Pak Interactive eXchange factor
      cd00160
      Location:88 → 265
      RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases; Also called Dbl-homologous (DH) domain. It appears that PH domains invariably occur C-terminal to RhoGEF/DH domains.
      cd01225
      Location:296 → 394
      PH_Cool_Pix; Cloned out of library/PAK-interactive exchange factor pleckstrin homology (PH) domain
      pfam16614
      Location:420 → 520
      RhoGEF67_u2; Unstructured region two on RhoGEF 6 and 7
      pfam16523
      Location:523 → 609
      betaPIX_CC; betaPIX coiled coil
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8K4I3.1 GenPept UniProtKB/Swiss-Prot:Q8K4I3

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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