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    Arhgef40 Rho guanine nucleotide exchange factor 40 [ Mus musculus (house mouse) ]

    Gene ID: 268739, updated on 27-Nov-2024

    Summary

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    Official Symbol
    Arhgef40provided by MGI
    Official Full Name
    Rho guanine nucleotide exchange factor 40provided by MGI
    Primary source
    MGI:MGI:2685515
    See related
    Ensembl:ENSMUSG00000004562 AllianceGenome:MGI:2685515
    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
    Solo; Gm669; E130112L23Rik
    Summary
    Predicted to enable guanyl-nucleotide exchange factor activity. Predicted to be located in cytosol and plasma membrane. Is expressed in cerebral cortex ventricular layer and retina. Orthologous to human ARHGEF40 (Rho guanine nucleotide exchange factor 40). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in limb E14.5 (RPKM 18.9), genital fat pad adult (RPKM 11.5) and 27 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Arhgef40 in Genome Data Viewer
    Location:
    14 C2; 14 26.75 cM
    Exon count:
    26
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 14 NC_000080.7 (52222158..52243704)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 14 NC_000080.6 (51984428..52006247)

    Chromosome 14 - NC_000080.7Genomic Context describing neighboring genes Neighboring gene ribonuclease, RNase A family, 13 (non-active) Neighboring gene chaperonin containing Tcp1, subunit 6a (zeta) pseudogene Neighboring gene predicted gene, 16617 Neighboring gene CapStarr-seq enhancer MGSCv37_chr14:52628339-52628522 Neighboring gene CapStarr-seq enhancer MGSCv37_chr14:52628697-52628806 Neighboring gene zinc finger protein 219 Neighboring gene CapStarr-seq enhancer MGSCv37_chr14:52639962-52640145 Neighboring gene STARR-seq mESC enhancer starr_36687 Neighboring gene transmembrane protein 253 Neighboring gene olfactory receptor family 5 subfamily AU member 1

    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. Identification, expression analysis, genomic organization and cellular location of a novel protein with a RhoGEF domain. Tse SW, et al. Gene, 2005 Oct 10. PMID 16143467
    2. 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
    3. Inactivation of the microRNA-183/96/182 cluster results in syndromic retinal degeneration. Lumayag S, et al. Proc Natl Acad Sci U S A, 2013 Feb 5. PMID 23341629, Free PMC Article
    4. Cell-Type-Specific Gene Expression in Developing Mouse Neocortex: Intermediate Progenitors Implicated in Axon Development. Bedogni F, et al. Front Mol Neurosci, 2021. PMID 34321999, Free PMC Article
    5. Libraries enriched for alternatively spliced exons reveal splicing patterns in melanocytes and melanomas. Watahiki A, et al. Nat Methods, 2004 Dec. PMID 15782199

    See all (16) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Variation

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    Alleles

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

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ10357

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables guanyl-nucleotide exchange factor activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables molecular_function ND
    No biological Data available
    more info
    		  
    Process Evidence Code Pubs
    involved_in biological_process ND
    No biological Data available
    more info
    		  
    Component Evidence Code Pubs
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cytosol ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in plasma membrane ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    rho guanine nucleotide exchange factor 40
    Names
    Rho guanine nucleotide exchange factor (GEF) 40
    protein SOLO

    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_001145921.1 → NP_001139393.1  rho guanine nucleotide exchange factor 40 isoform 2

      See identical proteins and their annotated locations for NP_001139393.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) has multiple differences in the 3' coding region, compared to variant 1. The resulting protein (isoform 2) is shorter when compared to isoform 1.
      Source sequence(s)
      AK131136, AK143527, AK163945
      Consensus CDS
      CCDS49489.1
      UniProtKB/TrEMBL
      S4R189
      Related
      ENSMUSP00000098204.4, ENSMUST00000100639.11
      Conserved Domains (3) summary
      cd13242
      Location:1242 → 1377
      PH_puratrophin-1; Puratrophin-1 pleckstrin homology (PH) domain
      cl02488
      Location:784 → 891
      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; ...
      cl02571
      Location:1084 → 1243
      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.

    2. NM_001145922.1 → NP_001139394.1  rho guanine nucleotide exchange factor 40 isoform 3

      See identical proteins and their annotated locations for NP_001139394.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks an alternate in-frame exon in the 3' coding region, compared to variant 1. The resulting protein (isoform 3) is shorter when compared to isoform 1.
      Source sequence(s)
      AK143527, AK163945, BC059018
      Consensus CDS
      CCDS59616.1
      UniProtKB/TrEMBL
      S4R189
      Related
      ENSMUSP00000138128.2, ENSMUST00000182061.8
      Conserved Domains (3) summary
      COG0497
      Location:755 → 874
      RecN; DNA repair ATPase RecN [Replication, recombination and repair]
      cd13242
      Location:1242 → 1377
      PH_puratrophin-1; Puratrophin-1 pleckstrin homology (PH) domain
      cl02571
      Location:1084 → 1243
      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.

    3. NM_198249.4 → NP_937892.2  rho guanine nucleotide exchange factor 40 isoform 1

      See identical proteins and their annotated locations for NP_937892.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and it encodes the longest protein (isoform 1).
      Source sequence(s)
      AK143527, AK163945
      Consensus CDS
      CCDS49488.1
      UniProtKB/Swiss-Prot
      Q3U1X1, Q3UGT7, Q3UPH7, Q3UYX3, Q6KAS1, Q6PD04, Q6PDY3
      UniProtKB/TrEMBL
      S4R189
      Related
      ENSMUSP00000091331.5, ENSMUST00000093813.12
      Conserved Domains (3) summary
      COG0497
      Location:755 → 874
      RecN; DNA repair ATPase RecN [Replication, recombination and repair]
      cd13242
      Location:1242 → 1377
      PH_puratrophin-1; Puratrophin-1 pleckstrin homology (PH) domain
      cl02571
      Location:1084 → 1243
      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.

    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
      52222158..52243704
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006519041.5 → XP_006519104.1  rho guanine nucleotide exchange factor 40 isoform X1

      See identical proteins and their annotated locations for XP_006519104.1

      UniProtKB/TrEMBL
      S4R189
      Conserved Domains (3) summary
      COG0497
      Location:755 → 874
      RecN; DNA repair ATPase RecN [Replication, recombination and repair]
      cd13242
      Location:1242 → 1377
      PH_puratrophin-1; Puratrophin-1 pleckstrin homology (PH) domain
      cl02571
      Location:1084 → 1243
      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.

    2. XM_006519042.5 → XP_006519105.1  rho guanine nucleotide exchange factor 40 isoform X1

      See identical proteins and their annotated locations for XP_006519105.1

      UniProtKB/TrEMBL
      S4R189
      Conserved Domains (3) summary
      COG0497
      Location:755 → 874
      RecN; DNA repair ATPase RecN [Replication, recombination and repair]
      cd13242
      Location:1242 → 1377
      PH_puratrophin-1; Puratrophin-1 pleckstrin homology (PH) domain
      cl02571
      Location:1084 → 1243
      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.

    3. XM_006519044.5 → XP_006519107.1  rho guanine nucleotide exchange factor 40 isoform X3

      See identical proteins and their annotated locations for XP_006519107.1

      UniProtKB/Swiss-Prot
      Q3U1X1, Q3UGT7, Q3UPH7, Q3UYX3, Q6KAS1, Q6PD04, Q6PDY3
      UniProtKB/TrEMBL
      S4R189
      Related
      ENSMUSP00000138635.2, ENSMUST00000182909.8
      Conserved Domains (3) summary
      COG0497
      Location:755 → 874
      RecN; DNA repair ATPase RecN [Replication, recombination and repair]
      cd13242
      Location:1242 → 1377
      PH_puratrophin-1; Puratrophin-1 pleckstrin homology (PH) domain
      cl02571
      Location:1084 → 1243
      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.

    4. XM_036158605.1 → XP_036014498.1  rho guanine nucleotide exchange factor 40 isoform X4

      UniProtKB/TrEMBL
      S4R189
      Conserved Domains (3) summary
      cd13242
      Location:1242 → 1377
      PH_puratrophin-1; Puratrophin-1 pleckstrin homology (PH) domain
      cl02488
      Location:784 → 891
      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; ...
      cl02571
      Location:1084 → 1243
      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.

    5. XM_030247828.2 → XP_030103688.1  rho guanine nucleotide exchange factor 40 isoform X5

      UniProtKB/TrEMBL
      S4R189
      Conserved Domains (3) summary
      COG0497
      Location:755 → 874
      RecN; DNA repair ATPase RecN [Replication, recombination and repair]
      cd13242
      Location:1242 → 1377
      PH_puratrophin-1; Puratrophin-1 pleckstrin homology (PH) domain
      cl02571
      Location:1084 → 1243
      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.

    6. XM_011245076.4 → XP_011243378.1  rho guanine nucleotide exchange factor 40 isoform X6

      UniProtKB/TrEMBL
      S4R189
      Conserved Domains (3) summary
      COG0497
      Location:755 → 874
      RecN; DNA repair ATPase RecN [Replication, recombination and repair]
      cd13242
      Location:1242 → 1377
      PH_puratrophin-1; Puratrophin-1 pleckstrin homology (PH) domain
      cl02571
      Location:1084 → 1243
      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.

    7. XM_030247829.2 → XP_030103689.1  rho guanine nucleotide exchange factor 40 isoform X7

      UniProtKB/TrEMBL
      S4R189
      Conserved Domains (3) summary
      cd13242
      Location:1242 → 1377
      PH_puratrophin-1; Puratrophin-1 pleckstrin homology (PH) domain
      cl02488
      Location:784 → 891
      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; ...
      cl02571
      Location:1084 → 1243
      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.

    8. XM_036158606.1 → XP_036014499.1  rho guanine nucleotide exchange factor 40 isoform X7

      UniProtKB/TrEMBL
      S4R189
      Conserved Domains (3) summary
      cd13242
      Location:1242 → 1377
      PH_puratrophin-1; Puratrophin-1 pleckstrin homology (PH) domain
      cl02488
      Location:784 → 891
      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; ...
      cl02571
      Location:1084 → 1243
      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.

    9. XM_017316026.3 → XP_017171515.1  rho guanine nucleotide exchange factor 40 isoform X2

      UniProtKB/TrEMBL
      S4R189
      Conserved Domains (3) summary
      COG0497
      Location:755 → 874
      RecN; DNA repair ATPase RecN [Replication, recombination and repair]
      cd13242
      Location:1242 → 1377
      PH_puratrophin-1; Puratrophin-1 pleckstrin homology (PH) domain
      cl02571
      Location:1084 → 1243
      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.

    RNA

    1. XR_001781123.3 RNA Sequence

    2. XR_004938402.1 RNA Sequence

      Related
      ENSMUST00000182905.8

    3. XR_003950857.2 RNA Sequence

      Related
      ENSMUST00000183208.8

    4. XR_003950858.2 RNA Sequence

    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q3UPH7.1 GenPept UniProtKB/Swiss-Prot:Q3UPH7

    Gene LinkOut

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

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