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    Plekhg4 pleckstrin homology domain containing, family G (with RhoGef domain) member 4 [ Mus musculus (house mouse) ]

    Gene ID: 102075, updated on 5-Mar-2024

    Summary

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    Official Symbol
    Plekhg4provided by MGI
    Official Full Name
    pleckstrin homology domain containing, family G (with RhoGef domain) member 4provided by MGI
    Primary source
    MGI:MGI:2142544
    See related
    Ensembl:ENSMUSG00000014782 AllianceGenome:MGI:2142544
    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
    4931414L13Rik
    Summary
    Involved in activation of GTPase activity. Is expressed in brain and gonad. Human ortholog(s) of this gene implicated in spinocerebellar ataxia type 4. Orthologous to human PLEKHG4 (pleckstrin homology and RhoGEF domain containing G4). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Biased expression in ovary adult (RPKM 19.8), testis adult (RPKM 4.8) and 5 other tissues See more
    Orthologs
    human all
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    Genomic context

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    Location:
    8 D3; 8 53.04 cM
    Exon count:
    26
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 8 NC_000074.7 (106096272..106109492)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 8 NC_000074.6 (105369640..105382860)

    Chromosome 8 - NC_000074.7Genomic Context describing neighboring genes Neighboring gene formin homology 2 domain containing 1 Neighboring gene CapStarr-seq enhancer MGSCv37_chr8:107871965-107872074 Neighboring gene predicted gene, 46049 Neighboring gene solute carrier family 9 (sodium/hydrogen exchanger), member 5 Neighboring gene potassium channel tetramerisation domain containing 19 Neighboring gene leucine rich repeat containing 36 Neighboring gene tubulin polymerization-promoting protein family member 3

    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. Plekhg4 is a novel Dbl family guanine nucleotide exchange factor protein for rho family GTPases. Gupta M, et al. J Biol Chem, 2013 May 17. PMID 23572525, Free PMC Article
    2. Role of the guanine nucleotide exchange factor in Akt2-mediated plasma membrane translocation of GLUT4 in insulin-stimulated skeletal muscle. Takenaka N, et al. Cell Signal, 2014 Nov. PMID 25025572
    3. Urogenital and caudal dysgenesis in adrenocortical dysplasia (acd) mice is caused by a splicing mutation in a novel telomeric regulator. Keegan CE, et al. Hum Mol Genet, 2005 Jan 1. PMID 15537664
    4. Prediction of the coding sequences of mouse homologues of FLJ genes: the complete nucleotide sequences of 110 mouse FLJ-homologous cDnas identified by screening of terminal sequences of cDNA clones randomly sampled from size-fractionated libraries. Okazaki N, et al. DNA Res, 2004 Apr 30. PMID 15449545
    5. Database resources of the National Center for Biotechnology Information. Wheeler DL, et al. Nucleic Acids Res, 2001 Jan 1. PMID 11125038, Free PMC Article

    See all (15) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Role of the guanine nucleotide exchange factor in Akt2-mediated plasma membrane translocation of GLUT4 in insulin-stimulated skeletal muscle.
      Title: Role of the guanine nucleotide exchange factor in Akt2-mediated plasma membrane translocation of GLUT4 in insulin-stimulated skeletal muscle.
    2. Plekhg4 is an aggregation-prone member of the Dbl family GEFs and regulation of GTPase signaling is critical for proper cerebellar function
      Title: Plekhg4 is a novel Dbl family guanine nucleotide exchange factor protein for rho family GTPases.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Targeted (2) 

    General gene information

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    Markers

    Homology

    Clone Names

    • mFLJ00068

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables molecular_function ND
    No biological Data available
    more info
    		  
    Process Evidence Code Pubs
    involved_in activation of GTPase activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in cellular_component ND
    No biological Data available
    more info
    		  

    General protein information

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    Preferred Names
    puratrophin-1

    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_001081333.2 → NP_001074802.1  puratrophin-1 isoform 1

      See identical proteins and their annotated locations for NP_001074802.1

      Status: VALIDATED

      Source sequence(s)
      AC124584
      Consensus CDS
      CCDS40458.1
      UniProtKB/TrEMBL
      E9Q7C3, F8VPS6
      Related
      ENSMUSP00000014927.8, ENSMUST00000014927.8
      Conserved Domains (5) summary
      cd13242
      Location:892 → 1027
      PH_puratrophin-1; Puratrophin-1 pleckstrin homology (PH) domain
      pfam00169
      Location:917 → 1019
      PH; PH domain
      pfam00621
      Location:729 → 900
      RhoGEF; RhoGEF domain
      cl02488
      Location:439 → 590
      SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
      cl15787
      Location:194 → 315
      SEC14; Sec14p-like lipid-binding domain. Found in secretory proteins, such as S. cerevisiae phosphatidylinositol transfer protein (Sec14p), and in lipid regulated proteins such as RhoGAPs, RhoGEFs and neurofibromin (NF1). SEC14 domain of Dbl is known to ...

    2. NM_001364406.1 → NP_001351335.1  puratrophin-1 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC124584
      Consensus CDS
      CCDS90450.1
      UniProtKB/TrEMBL
      A0A1L1SU27, E9Q7C3
      Related
      ENSMUSP00000150574.2, ENSMUST00000214056.2
      Conserved Domains (4) summary
      cd00160
      Location:762 → 928
      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.
      cd13242
      Location:928 → 1063
      PH_puratrophin-1; Puratrophin-1 pleckstrin homology (PH) domain
      cl02488
      Location:475 → 626
      SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
      cl15787
      Location:230 → 351
      SEC14; Sec14p-like lipid-binding domain. Found in secretory proteins, such as S. cerevisiae phosphatidylinositol transfer protein (Sec14p), and in lipid regulated proteins such as RhoGAPs, RhoGEFs and neurofibromin (NF1). SEC14 domain of Dbl is known to ...

    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_000074.7 Reference GRCm39 C57BL/6J

      Range
      106096272..106109492
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017312497.3 → XP_017167986.1  puratrophin-1 isoform X1

      UniProtKB/TrEMBL
      E9Q7C3
      Conserved Domains (4) summary
      cd00160
      Location:762 → 928
      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.
      cd13242
      Location:928 → 1063
      PH_puratrophin-1; Puratrophin-1 pleckstrin homology (PH) domain
      cl02488
      Location:475 → 626
      SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
      cl15787
      Location:230 → 351
      SEC14; Sec14p-like lipid-binding domain. Found in secretory proteins, such as S. cerevisiae phosphatidylinositol transfer protein (Sec14p), and in lipid regulated proteins such as RhoGAPs, RhoGEFs and neurofibromin (NF1). SEC14 domain of Dbl is known to ...

    2. XM_006530523.4 → XP_006530586.1  puratrophin-1 isoform X1

      See identical proteins and their annotated locations for XP_006530586.1

      UniProtKB/TrEMBL
      E9Q7C3
      Conserved Domains (4) summary
      cd00160
      Location:762 → 928
      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.
      cd13242
      Location:928 → 1063
      PH_puratrophin-1; Puratrophin-1 pleckstrin homology (PH) domain
      cl02488
      Location:475 → 626
      SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
      cl15787
      Location:230 → 351
      SEC14; Sec14p-like lipid-binding domain. Found in secretory proteins, such as S. cerevisiae phosphatidylinositol transfer protein (Sec14p), and in lipid regulated proteins such as RhoGAPs, RhoGEFs and neurofibromin (NF1). SEC14 domain of Dbl is known to ...

    3. XM_006530522.4 → XP_006530585.2  puratrophin-1 isoform X1

      See identical proteins and their annotated locations for XP_006530585.2

      UniProtKB/TrEMBL
      E9Q7C3
      Conserved Domains (4) summary
      cd00160
      Location:762 → 928
      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.
      cd13242
      Location:928 → 1063
      PH_puratrophin-1; Puratrophin-1 pleckstrin homology (PH) domain
      cl02488
      Location:475 → 626
      SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
      cl15787
      Location:230 → 351
      SEC14; Sec14p-like lipid-binding domain. Found in secretory proteins, such as S. cerevisiae phosphatidylinositol transfer protein (Sec14p), and in lipid regulated proteins such as RhoGAPs, RhoGEFs and neurofibromin (NF1). SEC14 domain of Dbl is known to ...

    4. XM_011248253.2 → XP_011246555.1  puratrophin-1 isoform X1

      See identical proteins and their annotated locations for XP_011246555.1

      UniProtKB/TrEMBL
      E9Q7C3
      Conserved Domains (4) summary
      cd00160
      Location:762 → 928
      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.
      cd13242
      Location:928 → 1063
      PH_puratrophin-1; Puratrophin-1 pleckstrin homology (PH) domain
      cl02488
      Location:475 → 626
      SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
      cl15787
      Location:230 → 351
      SEC14; Sec14p-like lipid-binding domain. Found in secretory proteins, such as S. cerevisiae phosphatidylinositol transfer protein (Sec14p), and in lipid regulated proteins such as RhoGAPs, RhoGEFs and neurofibromin (NF1). SEC14 domain of Dbl is known to ...

    5. XM_036153697.1 → XP_036009590.1  puratrophin-1 isoform X1

      UniProtKB/TrEMBL
      E9Q7C3
      Conserved Domains (4) summary
      cd00160
      Location:762 → 928
      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.
      cd13242
      Location:928 → 1063
      PH_puratrophin-1; Puratrophin-1 pleckstrin homology (PH) domain
      cl02488
      Location:475 → 626
      SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
      cl15787
      Location:230 → 351
      SEC14; Sec14p-like lipid-binding domain. Found in secretory proteins, such as S. cerevisiae phosphatidylinositol transfer protein (Sec14p), and in lipid regulated proteins such as RhoGAPs, RhoGEFs and neurofibromin (NF1). SEC14 domain of Dbl is known to ...

    6. XM_017312499.2 → XP_017167988.1  puratrophin-1 isoform X3

      UniProtKB/TrEMBL
      E9Q7C3
      Conserved Domains (4) summary
      cd00160
      Location:713 → 879
      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.
      cd13242
      Location:879 → 1014
      PH_puratrophin-1; Puratrophin-1 pleckstrin homology (PH) domain
      cl02488
      Location:426 → 577
      SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
      cl15787
      Location:181 → 302
      SEC14; Sec14p-like lipid-binding domain. Found in secretory proteins, such as S. cerevisiae phosphatidylinositol transfer protein (Sec14p), and in lipid regulated proteins such as RhoGAPs, RhoGEFs and neurofibromin (NF1). SEC14 domain of Dbl is known to ...

    7. XM_006530526.3 → XP_006530589.1  puratrophin-1 isoform X2

      UniProtKB/TrEMBL
      E9Q7C3
      Conserved Domains (4) summary
      cd00160
      Location:726 → 892
      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.
      cd13242
      Location:892 → 1027
      PH_puratrophin-1; Puratrophin-1 pleckstrin homology (PH) domain
      cl02488
      Location:439 → 590
      SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
      cl15787
      Location:194 → 315
      SEC14; Sec14p-like lipid-binding domain. Found in secretory proteins, such as S. cerevisiae phosphatidylinositol transfer protein (Sec14p), and in lipid regulated proteins such as RhoGAPs, RhoGEFs and neurofibromin (NF1). SEC14 domain of Dbl is known to ...

    8. XM_006530527.3 → XP_006530590.1  puratrophin-1 isoform X4

      UniProtKB/TrEMBL
      E9Q7C3
      Conserved Domains (4) summary
      cd00160
      Location:682 → 848
      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.
      cd13242
      Location:848 → 983
      PH_puratrophin-1; Puratrophin-1 pleckstrin homology (PH) domain
      cl02488
      Location:395 → 546
      SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
      cl15787
      Location:150 → 271
      SEC14; Sec14p-like lipid-binding domain. Found in secretory proteins, such as S. cerevisiae phosphatidylinositol transfer protein (Sec14p), and in lipid regulated proteins such as RhoGAPs, RhoGEFs and neurofibromin (NF1). SEC14 domain of Dbl is known to ...

    RNA

    1. XR_001778384.3 RNA Sequence

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_175321.2: Suppressed sequence

      Description
      NM_175321.2: This RefSeq was removed because currently there is insufficient support for the transcript.
    Nucleotide Protein Strain
    Heading Accession and Version

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