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

Gene ID: 9138, updated on 20-Dec-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; IMD62; 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
109.20191205 current GRCh38.p13 (GCF_000001405.39) 19 NC_000019.10 (41883184..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 repressor factor like 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 (78) citations in PubMed

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

GeneRIFs: Gene References Into Functions

What'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

Associated conditions

Description Tests
IMMUNODEFICIENCY 62
MedGen: CN258820 OMIM: 618459 GeneReviews: Not available
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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 PubChem

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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_004706.4 → 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)
    AC243967, 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_198977.2 → 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)
    AC243967, 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_199002.2 → 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 Updated Annotation Release 109.20191205

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p13 Primary Assembly

    Range
    41883184..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

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