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

Gene ID: 73341, updated on 21-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.
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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

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