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

Gene ID: 57580, updated on 2-Mar-2021

Summary

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
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
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Genomic context

See PREX1 in Genome Data Viewer
Location:
20q13.13
Exon count:
40
Annotation release Status Assembly Chr Location
109.20210226 current GRCh38.p13 (GCF_000001405.39) 20 NC_000020.11 (48624252..48827999, complement)
105.20201022 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 Sharpr-MPRA regulatory region 11669 Neighboring gene uncharacterized LOC105372646 Neighboring gene uncharacterized LOC105372648 Neighboring gene ADP ribosylation factor guanine nucleotide exchange factor 2

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Clinical, polysomnographic and genome-wide association analyses of narcolepsy with cataplexy: a European Narcolepsy Network study.
GeneReviews: Not available
Common variation in GPC5 is associated with acquired nephrotic syndrome.
GeneReviews: Not available
Framingham Heart Study 100K Project: genome-wide associations for blood pressure and arterial stiffness.
GeneReviews: Not available

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • KIAA1415

Gene Ontology Provided by GOA

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

General protein information

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)

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

    Status: REVIEWED

    Source sequence(s)
    AL035106, AL133342, AL445192
    Consensus CDS
    CCDS13410.1
    Related
    ENSP00000361009.3, ENST00000371941.4
    Conserved Domains (6) summary
    cd00136
    Location:721773
    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:50238
    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:627703
    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:506598
    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:244396
    PH_Collybistin_ASEF; Collybistin/APC-stimulated guanine nucleotide exchange factor pleckstrin homology (PH) domain
    cl02442
    Location:414494
    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: Homo sapiens Updated Annotation Release 109.20210226

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000020.11 Reference GRCh38.p13 Primary Assembly

    Range
    48624252..48827999 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011528934.2XP_011527236.1  phosphatidylinositol 3,4,5-trisphosphate-dependent Rac exchanger 1 protein isoform X1

    Conserved Domains (4) summary
    cd00136
    Location:321373
    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:227303
    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:106198
    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:1494
    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 ...
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