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

Gene ID: 55701, updated on 3-Apr-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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Location:
14q11.2
Exon count:
27
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (21061264..21090248)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (15258708..15287664)
105.20220307 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
  • 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. 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
  2. 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
  3. 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
  4. 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
  5. Characterization of long cDNA clones from human adult spleen. II. The complete sequences of 81 cDNA clones. Jikuya H, et al. DNA Res, 2003 Feb 28. PMID 12693554

See all (31) 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
  
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_2023_10

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

Gene LinkOut

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