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

Gene ID: 57580, updated on 17-Jun-2024

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; 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
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Genomic context

See PREX1 in Genome Data Viewer
Location:
20q13.13
Exon count:
44
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (48624252..48888185, complement)
RS_2023_10 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 uncharacterized LOC105372647 Neighboring gene NANOG hESC enhancer GRCh37_chr20:47139607-47140108 Neighboring gene uncharacterized LOC105372646 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18022 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:47215027-47215985 Neighboring gene Sharpr-MPRA regulatory region 8803 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_60582 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:47235455-47235955 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:47235991-47236699 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12983 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18023 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18024 Neighboring gene Sharpr-MPRA regulatory region 6651 Neighboring gene ReSE screen-validated silencer GRCh37_chr20:47259130-47259274 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12984 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:47299567-47300316 Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:47310619-47311119 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_60598 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_60600 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:47319614-47320114 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_60606 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18025 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18026 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18027 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18028 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12985 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18029 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18030 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18031 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18032 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18033 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18034 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:47339203-47340102 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18036 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:47364075-47364807 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:47365963-47366558 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18037 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:47374563-47375557 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12986 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18039 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:47379434-47380209 Neighboring gene ReSE screen-validated silencer GRCh37_chr20:47381423-47381601 Neighboring gene ReSE screen-validated silencer GRCh37_chr20:47388421-47388642 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18040 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18041 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18042 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18043 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18044 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18045 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12987 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:47410381-47411036 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:47411037-47411690 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:47414263-47414873 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:47415894-47416394 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:47435997-47436994 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18046 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18047 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12988 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12989 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18048 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18049 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18050 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:47474509-47475009 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18051 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12990 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12991 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12992 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18052 Neighboring gene ADP ribosylation factor guanine nucleotide exchange factor 2 Neighboring gene synaptosome associated protein 23 pseudogene 1

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

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

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
 
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
 
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
 
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
 
involved_in positive regulation of cell migration IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of substrate adhesion-dependent cell spreading IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of actin filament polymerization IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of dendrite development IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of signaling IBA
Inferred from Biological aspect of Ancestor
more info
 
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
 
located_in dendritic shaft IEA
Inferred from Electronic Annotation
more info
 
located_in growth cone IEA
Inferred from Electronic Annotation
more info
 
located_in perinuclear region of cytoplasm IEA
Inferred from Electronic Annotation
more info
 
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in 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
    UniProtKB/Swiss-Prot
    E1P5X9, Q5JS95, Q5JS96, Q69YL2, Q7Z2L9, Q8TCU6, Q9BQH0, Q9BX55, Q9H4Q6, Q9P2D2, Q9UGQ4
    UniProtKB/TrEMBL
    A0A2X0SFH1
    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: 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_000020.11 Reference GRCh38.p14 Primary Assembly

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

mRNA and Protein(s)

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

    UniProtKB/TrEMBL
    A0A2X0SFH1
  2. XM_047440332.1XP_047296288.1  phosphatidylinositol 3,4,5-trisphosphate-dependent Rac exchanger 1 protein isoform X1

    UniProtKB/TrEMBL
    A0A2X0SFH1
  3. XM_047440331.1XP_047296287.1  phosphatidylinositol 3,4,5-trisphosphate-dependent Rac exchanger 1 protein isoform X1

    UniProtKB/TrEMBL
    A0A2X0SFH1
  4. XM_011528934.2XP_011527236.1  phosphatidylinositol 3,4,5-trisphosphate-dependent Rac exchanger 1 protein isoform X2

    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 ...
  5. XM_047440334.1XP_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_054323770.1XP_054179745.1  phosphatidylinositol 3,4,5-trisphosphate-dependent Rac exchanger 1 protein isoform X1

    UniProtKB/TrEMBL
    A0A2X0SFH1
  2. XM_054323771.1XP_054179746.1  phosphatidylinositol 3,4,5-trisphosphate-dependent Rac exchanger 1 protein isoform X2

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