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    ARHGEF40 Rho guanine nucleotide exchange factor 40 [ Homo sapiens (human) ]

    Gene ID: 55701, updated on 3-Nov-2024

    Summary

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    Official Symbol
    ARHGEF40provided by HGNC
    Official Full Name
    Rho guanine nucleotide exchange factor 40provided by HGNC
    Primary source
    HGNC:HGNC:25516
    See related
    Ensembl:ENSG00000165801 MIM:610018; AllianceGenome:HGNC:25516
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    SOLO
    Summary
    This gene encodes a protein similar to guanosine nucleotide exchange factors for Rho GTPases. The encoded protein contains in its C-terminus a GEF domain involved in exchange activity and a pleckstrin homology domain. Alternatively spliced transcripts that encode different proteins have been described. [provided by RefSeq, Mar 2014]
    Expression
    Ubiquitous expression in spleen (RPKM 21.4), adrenal (RPKM 17.9) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See ARHGEF40 in Genome Data Viewer
    Location:
    14q11.2
    Exon count:
    27
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (21061264..21090248)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (15258708..15287664)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (21538463..21558407)

    Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene NDRG family member 2 Neighboring gene uncharacterized LOC105370398 Neighboring gene ribonuclease A family member 8 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5577 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5578 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5579 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:21539187-21539808 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr14:21550650-21551849 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr14:21552808-21554007 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:21554944-21555488 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:21555489-21556031 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:21558438-21559283 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:21559284-21560128 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5581 Neighboring gene Sharpr-MPRA regulatory region 8150 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:21565235-21565736 Neighboring gene zinc finger protein 219 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:21566496-21566996 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:21571456-21572200 Neighboring gene transmembrane protein 253 Neighboring gene cytoskeleton associated protein 2 pseudogene 1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Keratin-binding ability of the N-terminal Solo domain of Solo is critical for its function in cellular mechanotransduction. Fujiwara S, et al. Genes Cells, 2019 May. PMID 30929300
    2. ARHGEF40 promotes non-small cell lung cancer proliferation and invasion via the AKT-Wnt axis by binding to RhoA. Gu J, et al. Mol Carcinog, 2022 Nov. PMID 36000254
    3. USP9X deubiquitinates and stabilizes CDC123 to promote breast carcinogenesis through regulating cell cycle. Song N, et al. Mol Carcinog, 2023 Oct. PMID 37314216
    4. High-Throughput Sequencing Identifies 3 Novel Susceptibility Genes for Hereditary Melanoma. Campos C, et al. Genes (Basel), 2020 Apr 8. PMID 32276436, Free PMC Article
    5. 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

    See all (35) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. ARHGEF40 promotes non-small cell lung cancer proliferation and invasion via the AKT-Wnt axis by binding to RhoA.
      Title: ARHGEF40 promotes non-small cell lung cancer proliferation and invasion via the AKT-Wnt axis by binding to RhoA.
    2. High-Throughput Sequencing Identifies 3 Novel Susceptibility Genes for Hereditary Melanoma.
      Title: High-Throughput Sequencing Identifies 3 Novel Susceptibility Genes for Hereditary Melanoma.
    3. Keratin binding domain is critical for Solo localization and its function in regulating mechanotransduction.
      Title: Keratin-binding ability of the N-terminal Solo domain of Solo is critical for its function in cellular mechanotransduction.
    4. Solo mRNA is ubiquitously expressed but enriched in brain, and it undergoes extensive alternative splicing.
      Title: Identification, expression analysis, genomic organization and cellular location of a novel protein with a RhoGEF domain.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ10357

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables guanyl-nucleotide exchange factor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables guanyl-nucleotide exchange factor activity TAS
    Traceable Author Statement
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in axon guidance IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in regulation of small GTPase mediated signal transduction TAS
    Traceable Author Statement
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    is_active_in extrinsic component of membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in plasma membrane IDA
    Inferred from Direct Assay
    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.

    Genomic

    1. NG_034001.2 RefSeqGene

      Range
      14042..33986
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001278529.2 → NP_001265458.1  rho guanine nucleotide exchange factor 40 isoform 2

      See identical proteins and their annotated locations for NP_001265458.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) has multiple differences compared to variant 1. These differences result in a distinct 5' UTR and cause translation initiation at a downstream start codon compared to variant 1. The encoded protein (isoform 2) is shorter than isoform 1.
      Source sequence(s)
      AL161668, BC142692, HY010070, HY277017
      UniProtKB/Swiss-Prot
      Q8TER5
      Conserved Domains (4) summary
      cd13242
      Location:530 → 665
      PH_puratrophin-1; Puratrophin-1 pleckstrin homology (PH) domain
      pfam00169
      Location:555 → 653
      PH; PH domain
      cl02488
      Location:72 → 240
      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:372 → 531
      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_001278530.2 → NP_001265459.1  rho guanine nucleotide exchange factor 40 isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) has multiple differences compared to variant 1. These differences result in a distinct 5' UTR and cause translation initiation at a downstream start codon compared to variant 1. The encoded protein (isoform 3) is shorter than isoform 1.
      Source sequence(s)
      AL161668, BC144317, HY277017
      Conserved Domains (4) summary
      cd13242
      Location:530 → 665
      PH_puratrophin-1; Puratrophin-1 pleckstrin homology (PH) domain
      pfam00169
      Location:555 → 653
      PH; PH domain
      cl02488
      Location:72 → 240
      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:372 → 531
      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_018071.5 → NP_060541.3  rho guanine nucleotide exchange factor 40 isoform 1

      See identical proteins and their annotated locations for NP_060541.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AK074057, AL161668, BC142692, HY010070, HY277017
      Consensus CDS
      CCDS32041.1
      UniProtKB/Swiss-Prot
      A5PL07, Q8TER5, Q9BWP5, Q9H7L6, Q9NTF9, Q9NW24
      UniProtKB/TrEMBL
      A0A2X0SFG4
      Related
      ENSP00000298694.4, ENST00000298694.9
      Conserved Domains (4) summary
      cd13242
      Location:1244 → 1379
      PH_puratrophin-1; Puratrophin-1 pleckstrin homology (PH) domain
      pfam00169
      Location:1269 → 1367
      PH; PH domain
      cl02488
      Location:786 → 964
      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:1086 → 1245
      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_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000014.9 Reference GRCh38.p14 Primary Assembly

      Range
      21061264..21090248
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017021434.3 → XP_016876923.1  rho guanine nucleotide exchange factor 40 isoform X4

      UniProtKB/TrEMBL
      A0A2X0SFG4

    2. XM_011536937.4 → XP_011535239.1  rho guanine nucleotide exchange factor 40 isoform X1

      UniProtKB/TrEMBL
      A0A2X0SFG4
      Conserved Domains (4) summary
      cd13242
      Location:1244 → 1379
      PH_puratrophin-1; Puratrophin-1 pleckstrin homology (PH) domain
      pfam00169
      Location:1269 → 1367
      PH; PH domain
      cl02488
      Location:786 → 964
      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:1086 → 1245
      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_047431564.1 → XP_047287520.1  rho guanine nucleotide exchange factor 40 isoform X2

    4. XM_005267844.4 → XP_005267901.1  rho guanine nucleotide exchange factor 40 isoform X3

      UniProtKB/TrEMBL
      A0A2X0SFG4
      Conserved Domains (4) summary
      cd13242
      Location:1244 → 1379
      PH_puratrophin-1; Puratrophin-1 pleckstrin homology (PH) domain
      pfam00169
      Location:1269 → 1367
      PH; PH domain
      cl02488
      Location:786 → 964
      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:1086 → 1245
      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_011536938.4 → XP_011535240.1  rho guanine nucleotide exchange factor 40 isoform X5

      Conserved Domains (1) summary
      cl15454
      Location:760 → 889
      HrpJ; HrpJ-like domain

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060938.1 Alternate T2T-CHM13v2.0

      Range
      15258708..15287664
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054376351.1 → XP_054232326.1  rho guanine nucleotide exchange factor 40 isoform X4

    2. XM_054376348.1 → XP_054232323.1  rho guanine nucleotide exchange factor 40 isoform X1

    3. XM_054376349.1 → XP_054232324.1  rho guanine nucleotide exchange factor 40 isoform X2

    4. XM_054376350.1 → XP_054232325.1  rho guanine nucleotide exchange factor 40 isoform X3

    5. XM_054376352.1 → XP_054232327.1  rho guanine nucleotide exchange factor 40 isoform X5

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8TER5.3 GenPept UniProtKB/Swiss-Prot:Q8TER5

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