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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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See Plekhg4 in Genome Data Viewer
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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