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ARHGEF1 Rho guanine nucleotide exchange factor 1 [ Homo sapiens (human) ]

Gene ID: 9138, updated on 5-May-2019

Summary

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Official Symbol
ARHGEF1provided by HGNC
Official Full Name
Rho guanine nucleotide exchange factor 1provided by HGNC
Primary source
HGNC:HGNC:681
See related
Ensembl:ENSG00000076928 MIM:601855
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
LSC; GEF1; LBCL2; SUB1.5; P115-RHOGEF
Summary
Rho GTPases play a fundamental role in numerous cellular processes that are initiated by extracellular stimuli that work through G protein coupled receptors. The encoded protein may form complex with G proteins and stimulate Rho-dependent signals. Multiple alternatively spliced transcript variants have been found for this gene, but the full-length nature of some variants has not been defined. [provided by RefSeq, Jul 2008]
Expression
Broad expression in spleen (RPKM 68.4), lymph node (RPKM 64.2) and 24 other tissues See more
Orthologs
mouse all

Genomic context

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See ARHGEF1 in Genome Data Viewer
Location:
19q13.2
Exon count:
30
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 19 NC_000019.10 (41883200..41907452)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (42387240..42411604)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene ribosomal protein S19 Neighboring gene microRNA 6797 Neighboring gene CD79a molecule Neighboring gene ETS domain-containing transcription factor ERF Neighboring gene uncharacterized LOC100505585

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. A novel role for p115RhoGEF in regulation of epithelial plasticity. Kher SS, et al. PLoS One, 2014. PMID 24465552, Free PMC Article
  2. Modification of p115RhoGEF Ser(330) regulates its RhoGEF activity. Chow CR, et al. Cell Signal, 2013 Nov. PMID 23816534, Free PMC Article
  3. Modulation of a GEF switch: autoinhibition of the intrinsic guanine nucleotide exchange activity of p115-RhoGEF. Chen Z, et al. Protein Sci, 2011 Jan. PMID 21064165, Free PMC Article
  4. [The exchange factor Arhgef1: a new target in hypertension]. Loirand G, et al. Med Sci (Paris), 2010 Jun-Jul. PMID 20619149
  5. P115 RhoGEF and microtubules decide the direction apoptotic cells extrude from an epithelium. Slattum G, et al. J Cell Biol, 2009 Sep 7. PMID 19720875, Free PMC Article

See all (77) citations in PubMed

See citations in PubMed for homologs of this gene provided by HomoloGene

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

  1. High ARHGEF1 expression is associated with asthmatic airway hyper-responsiveness.
    Title: Transforming growth factor-β enhances Rho-kinase activity and contraction in airway smooth muscle via the nucleotide exchange factor ARHGEF1.
  2. Data suggest that MCP1/CCL2 induces activation/tyrosine phosphorylation of ARHGEF1/p115-RhoGEF and up-regulates RAC1 signaling in vascular smooth muscle cells (VSMCs); ARHGEF1 inhibition suppresses MCP1-induced VSMC migration and proliferation. (ARHGEF1 = Rho guanine nucleotide exchange factor 1; RAC1 = Rac family small GTPase 1; CCL2 = C-C motif chemokine ligand 2)
    Title: p115 RhoGEF activates the Rac1 GTPase signaling cascade in MCP1 chemokine-induced vascular smooth muscle cell migration and proliferation.
  3. Data indicate that the crystal structure of PDZ-RhoGEF PDZ domain in complex with the CXC chemokine receptor 2 (CXCR2) C-terminal PDZ binding motif.
    Title: Structural basis of PDZ-mediated chemokine receptor CXCR2 scaffolding by guanine nucleotide exchange factor PDZ-RhoGEF.
  4. We have reported here for the first time a reduced activity of both Rac1 and Cdc42 in human pheochromocytoma resection as well as tumor-associated expression changes of FARP1, ARHGEF1, and ARHGAP36
    Title: Cdc42 and Rac1 activity is reduced in human pheochromocytoma and correlates with FARP1 and ARHGEF1 expression.
  5. contactin-1 displayed the ability to phosphorylate the RhoA activator p115 RhoGEF
    Title: [Under hypoxia condition contactin-1 regulates migration of MKN45 cells through RhoA pathway].
  6. The novel role for p115RhoGEF in regulation of epithelial plasticity is dependent on Rho-DRF signaling module.
    Title: A novel role for p115RhoGEF in regulation of epithelial plasticity.
  7. Regulated localization is sufficient for hormonal control of regulator of G protein signaling homology Rho guanine nucleotide exchange factors (RH-RhoGEFs).
    Title: Regulated localization is sufficient for hormonal control of regulator of G protein signaling homology Rho guanine nucleotide exchange factors (RH-RhoGEFs).
  8. Modification of p115RhoGEF at Serine(330) regulates its RhoGEF activity.
    Title: Modification of p115RhoGEF Ser(330) regulates its RhoGEF activity.
  9. The action of DOCK7 in vivo may involve the coordinated integration of Cdc42/Rac1 signaling in the context of the membrane recruitment of a DOCK7 guanine nucleotide exchange factor (GEF) complex.
    Title: Prenylation and membrane localization of Cdc42 are essential for activation by DOCK7.
  10. High GEF1 expression is associated with metastasis of pancreatic cancer.
    Title: miR-143 inhibits the metastasis of pancreatic cancer and an associated signaling pathway.
Submit: New GeneRIF Correction See all GeneRIFs (27)

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

HIV-1 interactions

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Protein interactions

Protein Gene Interaction Pubs
Envelope transmembrane glycoprotein gp41 env The interaction of the long cytoplasmic tail of HIV-1 gp41 with the carboxy-terminal regulatory domain of p115-RhoGEF inhibits p115-mediated actin stress fiber formation and activation of serum response factor (SRF) PubMed

Go to the HIV-1, Human Interaction Database

Pathways from BioSystems

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  • Axonal growth inhibition (RHOA activation), organism-specific biosystem (from REACTOME)
    Axonal growth inhibition (RHOA activation), organism-specific biosystemp75NTR can also form a receptor complex with the Nogo receptor (NgR). Such complexes mediates axonal outgrowth inhibitory signals of MDGIs (myelin-derived growth-inhibitors), such as Nogo66, myelin-a...
  • Cell death signalling via NRAGE, NRIF and NADE, organism-specific biosystem (from REACTOME)
    Cell death signalling via NRAGE, NRIF and NADE, organism-specific biosystemp75NTR is a key regulator of neuronal apoptosis, both during development and after injury. Apoptosis is triggered by binding of either mature neurotrophin or proneurotrophin (proNGF, proBDNF). ProNG...
  • EGF/EGFR Signaling Pathway, organism-specific biosystem (from WikiPathways)
    EGF/EGFR Signaling Pathway, organism-specific biosystemEpidermal growth factor receptor (EGFR) also known as ErbB1/HER1 is a member of the ErbB family of receptor tyrosine kinases which also includes ErbB2 (Neu, HER2), ErbB3 (HER3) and ErbB4 (HER4). Sev...
  • G Protein Signaling Pathways, organism-specific biosystem (from WikiPathways)
    G Protein Signaling Pathways, organism-specific biosystemG proteins, short for guanine nucleotide-binding proteins, are a family of proteins involved in second messenger cascades. G proteins are so called because they function as "molecular switches". They...
  • G alpha (12/13) signalling events, organism-specific biosystem (from REACTOME)
    G alpha (12/13) signalling events, organism-specific biosystemThe G12/13 family is probably the least well characterized subtype, partly because G12/13 coupling is difficult to determine when compared with the other subtypes which predominantly rely on assay te...
  • G13 Signaling Pathway, organism-specific biosystem (from WikiPathways)
    G13 Signaling Pathway, organism-specific biosystemThe G13 subunit is an alpha unit of heterotrimeric G proteins that regulates cell processes through the use of guanine nucleotide exchange factors. G13 regulates actin cytoskeletal remodeling in cell...
  • GPCR downstream signaling, organism-specific biosystem (from REACTOME)
    GPCR downstream signaling, organism-specific biosystemG protein-coupled receptors (GPCRs) are classically defined as the receptor, G-protein and downstream effectors, the alpha subunit of the G-protein being the primary signaling molecule. However, it h...
  • LPA receptor mediated events, organism-specific biosystem (from Pathway Interaction Database)
    LPA receptor mediated events, organism-specific biosystem
    LPA receptor mediated events
  • NRAGE signals death through JNK, organism-specific biosystem (from REACTOME)
    NRAGE signals death through JNK, organism-specific biosystemOnce bound by either NGF or proNGF, p75NTR interacts with NRAGE, thus leading to phosphorylation and activation of JUN Kinase (JNK). JNK controls apoptosis in two ways: it induces transcription of pr...
  • Pathways in cancer, organism-specific biosystem (from KEGG)
    Pathways in cancer, organism-specific biosystem
    Pathways in cancer
  • Platelet activation, organism-specific biosystem (from KEGG)
    Platelet activation, organism-specific biosystemPlatelets play a key and beneficial role for primary hemostasis on the disruption of the integrity of vessel wall. Platelet adhesion and activation at sites of vascular wall injury is initiated by ad...
  • Proteoglycans in cancer, organism-specific biosystem (from KEGG)
    Proteoglycans in cancer, organism-specific biosystemMany proteoglycans (PGs) in the tumor microenvironment have been shown to be key macromolecules that contribute to biology of various types of cancer including proliferation, adhesion, angiogenesis a...
  • Proteoglycans in cancer, conserved biosystem (from KEGG)
    Proteoglycans in cancer, conserved biosystemMany proteoglycans (PGs) in the tumor microenvironment have been shown to be key macromolecules that contribute to biology of various types of cancer including proliferation, adhesion, angiogenesis a...
  • Regulation of Actin Cytoskeleton, organism-specific biosystem (from WikiPathways)
    Regulation of Actin Cytoskeleton, organism-specific biosystemhttp://www.genome.jp/kegg/pathway/hsa/hsa04810.html
  • Regulation of RhoA activity, organism-specific biosystem (from Pathway Interaction Database)
    Regulation of RhoA activity, organism-specific biosystem
    Regulation of RhoA activity
  • Regulation of actin cytoskeleton, organism-specific biosystem (from KEGG)
    Regulation of actin cytoskeleton, organism-specific biosystem
    Regulation of actin cytoskeleton
  • Regulation of actin cytoskeleton, conserved biosystem (from KEGG)
    Regulation of actin cytoskeleton, conserved biosystem
    Regulation of actin cytoskeleton
  • Rho GTPase cycle, organism-specific biosystem (from REACTOME)
    Rho GTPase cycle, organism-specific biosystemThe cycling of Rho GTPases is tightly controlled by three classes of protein. These are (1) guanine nucleotide dissociation inhibitors or GDIs, which maintain Rho proteins in an inactive state in the...
  • Signal Transduction, organism-specific biosystem (from REACTOME)
    Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
  • Signaling by GPCR, organism-specific biosystem (from REACTOME)
    Signaling by GPCR, organism-specific biosystemG protein-coupled receptors (GPCRs; 7TM receptors; seven transmembrane domain receptors; heptahelical receptors; G protein-linked receptors [GPLR]) are the largest family of transmembrane receptors i...
  • Signaling by Rho GTPases, organism-specific biosystem (from REACTOME)
    Signaling by Rho GTPases, organism-specific biosystemThe Rho family of small guanine nucleotide binding proteins is one of five generally recognized branches of the Ras superfamily. Like most Ras superfamily members, typical Rho proteins function as bi...
  • Signalling by NGF, organism-specific biosystem (from REACTOME)
    Signalling by NGF, organism-specific biosystemNeurotrophins (NGF, BDNF, NT-3, NT-4/5) play pivotal roles in survival, differentiation, and plasticity of neurons in the peripheral and central nervous system. They are produced, and secreted in mi...
  • Thromboxane A2 receptor signaling, organism-specific biosystem (from Pathway Interaction Database)
    Thromboxane A2 receptor signaling, organism-specific biosystem
    Thromboxane A2 receptor signaling
  • Vascular smooth muscle contraction, organism-specific biosystem (from KEGG)
    Vascular smooth muscle contraction, organism-specific biosystemThe vascular smooth muscle cell (VSMC) is a highly specialized cell whose principal function is contraction. On contraction, VSMCs shorten, thereby decreasing the diameter of a blood vessel to regula...
  • Vascular smooth muscle contraction, conserved biosystem (from KEGG)
    Vascular smooth muscle contraction, conserved biosystemThe vascular smooth muscle cell (VSMC) is a highly specialized cell whose principal function is contraction. On contraction, VSMCs shorten, thereby decreasing the diameter of a blood vessel to regula...
  • p75 NTR receptor-mediated signalling, organism-specific biosystem (from REACTOME)
    p75 NTR receptor-mediated signalling, organism-specific biosystemBesides signalling through the tyrosine kinase receptors TRK A, B, and C, the mature neurotrophins NGF, BDNF, and NT3/4 signal through their common receptor p75NTR. NGF binding to p75NTR activates a ...
  • p75NTR regulates axonogenesis, organism-specific biosystem (from REACTOME)
    p75NTR regulates axonogenesis, organism-specific biosystemp75NTR modulates axonal growth by regulating the activity of small GTPases like RHOA and RHOB, that control the state of actin polymerization. The best studied is RHOA. In its active, GTP-bound form,...

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
G protein-coupled receptor binding IEA
Inferred from Electronic Annotation
more info
  
GTPase activator activity IEA
Inferred from Electronic Annotation
more info
  
RNA binding HDA PubMed 
Rho guanyl-nucleotide exchange factor activity IEA
Inferred from Electronic Annotation
more info
  
protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
G protein-coupled receptor signaling pathway TAS
Traceable Author Statement
more info
  
Rho protein signal transduction TAS
Traceable Author Statement
more info
 PubMed 
positive regulation of GTPase activity IEA
Inferred from Electronic Annotation
more info
  
positive regulation of apoptotic process TAS
Traceable Author Statement
more info
  
regulation of Rho protein signal transduction IEA
Inferred from Electronic Annotation
more info
  
regulation of small GTPase mediated signal transduction TAS
Traceable Author Statement
more info
  
Component Evidence Code Pubs
cytoplasm TAS
Traceable Author Statement
more info
 PubMed 
cytosol IDA
Inferred from Direct Assay
more info
  
cytosol TAS
Traceable Author Statement
more info
  
plasma membrane IDA
Inferred from Direct Assay
more info
  

General protein information

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Preferred Names
rho guanine nucleotide exchange factor 1
Names
115 kDa guanine nucleotide exchange factor
115-kD protein
Lsc homolog
Rho guanine nucleotide exchange factor (GEF) 1
p115RhoGEF

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_004706.3 → NP_004697.2  rho guanine nucleotide exchange factor 1 isoform 2

    See identical proteins and their annotated locations for NP_004697.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) has an alternate 5' exon and uses a downstream start codon, as compared to variant 1. The encoded isoform 2 thus has a shorter N-terminus, as compared to isoform 1.
    Source sequence(s)
    BC005155, BC011726, BM147791
    Consensus CDS
    CCDS12591.1
    UniProtKB/Swiss-Prot
    Q92888
    UniProtKB/TrEMBL
    A0A024R0R1
    Related
    ENSP00000346532.2, ENST00000354532.7
    Conserved Domains (4) summary
    pfam05887
    Location:315 → 410
    Trypan_PARP; Procyclic acidic repetitive protein (PARP)
    cd08755
    Location:52 → 244
    RGS_p115RhoGEF; Regulator of G protein signaling (RGS) domain found in the Rho guanine nucleotide exchange factor (GEF), p115 RhoGEF
    smart00325
    Location:420 → 604
    RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases
    cd14679
    Location:638 → 762
    PH_p115RhoGEF; Rho guanine nucleotide exchange factor Pleckstrin homology domain

  2. NM_198977.1 → NP_945328.1  rho guanine nucleotide exchange factor 1 isoform 3

    See identical proteins and their annotated locations for NP_945328.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) has an alternate 5' exon and lacks an in-frame internal exon, as compared to variant 1. The encoded isoform 3 thus has a shorter N-terminus and lacks an internal segment, as compared to isoform 1.
    Source sequence(s)
    BC011726, BM147791
    Consensus CDS
    CCDS12592.1
    UniProtKB/Swiss-Prot
    Q92888
    Related
    ENSP00000344429.3, ENST00000347545.8
    Conserved Domains (4) summary
    pfam05887
    Location:282 → 377
    Trypan_PARP; Procyclic acidic repetitive protein (PARP)
    smart00325
    Location:387 → 571
    RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases
    cd14679
    Location:605 → 729
    PH_p115RhoGEF; Rho guanine nucleotide exchange factor Pleckstrin homology domain
    cl02565
    Location:52 → 211
    RGS; Regulator of G protein signaling (RGS) domain superfamily

  3. NM_199002.1 → NP_945353.1  rho guanine nucleotide exchange factor 1 isoform 1

    See identical proteins and their annotated locations for NP_945353.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1).
    Source sequence(s)
    BC011726, BC034013, BQ944132
    Consensus CDS
    CCDS12590.1
    UniProtKB/Swiss-Prot
    Q92888
    Related
    ENSP00000337261.3, ENST00000337665.8
    Conserved Domains (4) summary
    pfam05887
    Location:330 → 425
    Trypan_PARP; Procyclic acidic repetitive protein (PARP)
    cd08755
    Location:67 → 259
    RGS_p115RhoGEF; Regulator of G protein signaling (RGS) domain found in the Rho guanine nucleotide exchange factor (GEF), p115 RhoGEF
    smart00325
    Location:435 → 619
    RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases
    cd14679
    Location:653 → 777
    PH_p115RhoGEF; Rho guanine nucleotide exchange factor Pleckstrin homology domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p12 Primary Assembly

    Range
    41883200..41907452
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q92888.2 GenPept UniProtKB/Swiss-Prot:Q92888

Gene LinkOut

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

Chemical Information
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