U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

PREX1 phosphatidylinositol-3,4,5-trisphosphate dependent Rac exchange factor 1 [ Homo sapiens (human) ]

Gene ID: 57580, updated on 21-Mar-2023

Summary

Go to the top of the page Help
Official Symbol
PREX1provided by HGNC
Official Full Name
phosphatidylinositol-3,4,5-trisphosphate dependent Rac exchange factor 1provided by HGNC
Primary source
HGNC:HGNC:32594
See related
Ensembl:ENSG00000124126 MIM:606905; AllianceGenome:HGNC:32594
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
P-REX1
Summary
The protein encoded by this gene acts as a guanine nucleotide exchange factor for the RHO family of small GTP-binding proteins (RACs). It has been shown to bind to and activate RAC1 by exchanging bound GDP for free GTP. The encoded protein, which is found mainly in the cytoplasm, is activated by phosphatidylinositol-3,4,5-trisphosphate and the beta-gamma subunits of heterotrimeric G proteins. [provided by RefSeq, Jul 2008]
Expression
Broad expression in spleen (RPKM 30.0), brain (RPKM 23.2) and 23 other tissues See more
Orthologs
mouse all
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
See PREX1 in Genome Data Viewer
Location:
20q13.13
Exon count:
44
Annotation release Status Assembly Chr Location
RS_2023_03 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (48624252..48888185, complement)
RS_2023_03 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (50394065..50597825, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (47240790..47444536, complement)

Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene NANOG hESC enhancer GRCh37_chr20:47139607-47140108 Neighboring gene uncharacterized LOC105372646 Neighboring gene Sharpr-MPRA regulatory region 6651 Neighboring gene ADP ribosylation factor guanine nucleotide exchange factor 2 Neighboring gene synaptosome associated protein 23 pseudogene 1

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help
  • 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

Go to the top of the pageHelp

Related articles in PubMed

  1. Structure of the metastatic factor P-Rex1 reveals a two-layered autoinhibitory mechanism. Chang YG, et al. Nat Struct Mol Biol, 2022 Aug. PMID 35864164, Free PMC Article
  2. Gβγ recruits and activates P-Rex1 via two independent binding interfaces. Cervantes-Villagrana RD, et al. Biochem Biophys Res Commun, 2021 Feb 5. PMID 33412417
  3. Overexpression of PREX1 in oral squamous cell carcinoma indicates poor prognosis. Wan SC, et al. J Mol Histol, 2020 Oct. PMID 32785873
  4. The first DEP domain of the RhoGEF P-Rex1 autoinhibits activity and contributes to membrane binding. Ravala SK, et al. J Biol Chem, 2020 Sep 4. PMID 32661198, Free PMC Article
  5. Cryo-electron microscopy structure and analysis of the P-Rex1-Gβγ signaling scaffold. Cash JN, et al. Sci Adv, 2019 Oct. PMID 31663027, Free PMC Article

See all (83) 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. Structure of the metastatic factor P-Rex1 reveals a two-layered autoinhibitory mechanism.
    Title: Structure of the metastatic factor P-Rex1 reveals a two-layered autoinhibitory mechanism.
  2. Identification of Rac guanine nucleotide exchange factors promoting Lgl1 phosphorylation in glioblastoma.
    Title: Identification of Rac guanine nucleotide exchange factors promoting Lgl1 phosphorylation in glioblastoma.
  3. Overexpression of PREX1 in oral squamous cell carcinoma indicates poor prognosis.
    Title: Overexpression of PREX1 in oral squamous cell carcinoma indicates poor prognosis.
  4. Gbetagamma recruits and activates P-Rex1 via two independent binding interfaces.
    Title: Gβγ recruits and activates P-Rex1 via two independent binding interfaces.
  5. The first DEP domain of the RhoGEF P-Rex1 autoinhibits activity and contributes to membrane binding.
    Title: The first DEP domain of the RhoGEF P-Rex1 autoinhibits activity and contributes to membrane binding.
  6. PREX1 drives spontaneous bone dissemination of ER+ breast cancer cells.
    Title: PREX1 drives spontaneous bone dissemination of ER+ breast cancer cells.
  7. A multidomain assembly is key to the regulation of P-Rex1.
    Title: Cryo-electron microscopy structure and analysis of the P-Rex1-Gβγ signaling scaffold.
  8. PREX1 is a favorable variable of prognosis for breast cancer patients.
    Title: Phosphatidylinositol-3,4,5-Trisphosphate Dependent Rac Exchange Factor 1 (PREX1) is a Novel Predictor of Prognosis for Breast Cancer Patients: A Retrospective Case Series.
  9. GTPase-deficient G-ALPHA-qQL and Galpha13QL variants formed stable complexes with G protein beta gamma, impairing its interaction with P-REX1.
    Title: Gβγ signaling to the chemotactic effector P-REX1 and mammalian cell migration is directly regulated by Gα(q) and Gα(13) proteins.
  10. type I PKA regulatory subunits (RIalpha) interact with phosphatidylinositol 3,4,5-trisphosphate-dependent Rac exchange factor 1 (P-REX1), a chemotactic Rac guanine exchange factor (RacGEF). RIalpha CNB-B domain is critical for the interaction with P-REX1, which was increased in RIalpha mutants, such as the acrodysostosis-associated mutant, that activate P-REX1 at basal cAMP levels.
    Title: cAMP-dependent activation of the Rac guanine exchange factor P-REX1 by type I protein kinase A (PKA) regulatory subunits.
Submit: New GeneRIF Correction See all GeneRIFs (50)

Phenotypes

Go to the top of the page Help

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

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Clinical, polysomnographic and genome-wide association analyses of narcolepsy with cataplexy: a European Narcolepsy Network study.
EBI GWAS Catalog
Common variation in GPC5 is associated with acquired nephrotic syndrome.
EBI GWAS Catalog
Framingham Heart Study 100K Project: genome-wide associations for blood pressure and arterial stiffness.
EBI GWAS Catalog

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

Go to the top of the page

Interactions

Go to the top of the page Help
Products Interactant Other Gene Complex Source Pubs Description

General gene information

Go to the top of the page Help

Markers

Homology

Clone Names

  • KIAA1415

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables GTPase activator activity IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
enables GTPase activator activity TAS
Traceable Author Statement
more info
 PubMed 
enables enzyme binding TAS
Traceable Author Statement
more info
 PubMed 
enables guanyl-nucleotide exchange factor activity IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
enables guanyl-nucleotide exchange factor activity TAS
Traceable Author Statement
more info
 PubMed 
enables phospholipid binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in G protein-coupled receptor signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
involved_in T cell differentiation IEA
Inferred from Electronic Annotation
more info
  
involved_in actin filament polymerization TAS
Traceable Author Statement
more info
 PubMed 
involved_in intracellular signal transduction IEA
Inferred from Electronic Annotation
more info
  
involved_in neutrophil activation TAS
Traceable Author Statement
more info
 PubMed 
involved_in neutrophil chemotaxis IEA
Inferred from Electronic Annotation
more info
  
involved_in positive regulation of GTPase activity IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
involved_in positive regulation of substrate adhesion-dependent cell spreading IEA
Inferred from Electronic Annotation
more info
  
involved_in regulation of signaling IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
involved_in regulation of small GTPase mediated signal transduction TAS
Traceable Author Statement
more info
  
involved_in superoxide metabolic process TAS
Traceable Author Statement
more info
 PubMed 
Component Evidence Code Pubs
located_in cytosol IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cytosol TAS
Traceable Author Statement
more info
  
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
located_in plasma membrane TAS
Traceable Author Statement
more info
 PubMed 

General protein information

Go to the top of the page Help
Preferred Names
phosphatidylinositol 3,4,5-trisphosphate-dependent Rac exchanger 1 protein
Names
PIP3 dependent Rac exchange factor 1
ptdIns(3,4,5)-dependent Rac exchanger 1

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

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_020820.4 → NP_065871.3  phosphatidylinositol 3,4,5-trisphosphate-dependent Rac exchanger 1 protein

    Status: REVIEWED

    Source sequence(s)
    AL035106, AL133342, AL445192
    Consensus CDS
    CCDS13410.1
    UniProtKB/Swiss-Prot
    Q9UGQ4
    Related
    ENSP00000361009.3, ENST00000371941.4
    Conserved Domains (6) summary
    cd00136
    Location:721 → 773
    PDZ; PDZ domain, also called DHR (Dlg homologous region) or GLGF (after a conserved sequence motif). Many PDZ domains bind C-terminal polypeptides, though binding to internal (non-C-terminal) polypeptides and even to lipids has been demonstrated. ...
    cd00160
    Location:50 → 238
    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.
    cd00992
    Location:627 → 703
    PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
    cd04440
    Location:506 → 598
    DEP_2_P-Rex; DEP (Dishevelled, Egl-10, and Pleckstrin) domain 2 found in P-Rex-like proteins. The P-Rex family is the guanine-nucleotide exchange factor (GEF) for the small GTPase Rac that contains an N-terminal RhoGEF domain, two DEP and PDZ domains. Rac-GEF ...
    cd01224
    Location:244 → 396
    PH_Collybistin_ASEF; Collybistin/APC-stimulated guanine nucleotide exchange factor pleckstrin homology (PH) domain
    cl02442
    Location:414 → 494
    DEP; DEP domain, named after Dishevelled, Egl-10, and Pleckstrin, where this domain was first discovered. The function of this domain is still not clear, but it is believed to be important for the membrane association of the signaling proteins in which it is ...

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_03

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000020.11 Reference GRCh38.p14 Primary Assembly

    Range
    48624252..48888185 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047440333.1 → XP_047296289.1  phosphatidylinositol 3,4,5-trisphosphate-dependent Rac exchanger 1 protein isoform X1

  2. XM_047440332.1 → XP_047296288.1  phosphatidylinositol 3,4,5-trisphosphate-dependent Rac exchanger 1 protein isoform X1

  3. XM_047440331.1 → XP_047296287.1  phosphatidylinositol 3,4,5-trisphosphate-dependent Rac exchanger 1 protein isoform X1

  4. XM_011528934.2 → XP_011527236.1  phosphatidylinositol 3,4,5-trisphosphate-dependent Rac exchanger 1 protein isoform X2

    Conserved Domains (4) summary
    cd00136
    Location:321 → 373
    PDZ; PDZ domain, also called DHR (Dlg homologous region) or GLGF (after a conserved sequence motif). Many PDZ domains bind C-terminal polypeptides, though binding to internal (non-C-terminal) polypeptides and even to lipids has been demonstrated. ...
    cd00992
    Location:227 → 303
    PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
    cd04440
    Location:106 → 198
    DEP_2_P-Rex; DEP (Dishevelled, Egl-10, and Pleckstrin) domain 2 found in P-Rex-like proteins. The P-Rex family is the guanine-nucleotide exchange factor (GEF) for the small GTPase Rac that contains an N-terminal RhoGEF domain, two DEP and PDZ domains. Rac-GEF ...
    cl02442
    Location:14 → 94
    DEP; DEP domain, named after Dishevelled, Egl-10, and Pleckstrin, where this domain was first discovered. The function of this domain is still not clear, but it is believed to be important for the membrane association of the signaling proteins in which it is ...

  5. XM_047440334.1 → XP_047296290.1  phosphatidylinositol 3,4,5-trisphosphate-dependent Rac exchanger 1 protein isoform X3

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060944.1 Alternate T2T-CHM13v2.0

    Range
    50394065..50597825 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054323770.1 → XP_054179745.1  phosphatidylinositol 3,4,5-trisphosphate-dependent Rac exchanger 1 protein isoform X1

  2. XM_054323771.1 → XP_054179746.1  phosphatidylinositol 3,4,5-trisphosphate-dependent Rac exchanger 1 protein isoform X2

  3. XM_054323772.1 → XP_054179747.1  phosphatidylinositol 3,4,5-trisphosphate-dependent Rac exchanger 1 protein isoform X3

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8TCU6.3 GenPept UniProtKB/Swiss-Prot:Q8TCU6

Gene LinkOut

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

Chemical Information
Molecular Biology Databases
Research Materials
Tools
Miscellaneous