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

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: mouse all
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Genomic context

Location:: 20q13.13

Exon count:: 44

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	20	NC_000020.11 (48624252..48888185, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	20	NC_060944.1 (50394065..50597825, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	20	NC_000020.10 (47240790..47444536, complement)

Chromosome 20 - NC_000020.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Structural and dynamic changes in P-Rex1 upon activation by PIP3 and inhibition by IP4.
Title: Structural and dynamic changes in P-Rex1 upon activation by PIP(3) and inhibition by IP(4).
PREX1 improves homeostatic proliferation to maintain a naive CD4+ T cell compartment in older age.
Title: PREX1 improves homeostatic proliferation to maintain a naive CD4+ T cell compartment in older age.
Silencing Rac1 and Prex1 Inhibit Epithelial-Mesenchymal Transition in Human Gastric Cancer Cells Induced by Transforming Growth Factor-beta1.
Title: Silencing Rac1 and Prex1 Inhibit Epithelial-Mesenchymal Transition in Human Gastric Cancer Cells Induced by Transforming Growth Factor-β1.
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.
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.
Overexpression of PREX1 in oral squamous cell carcinoma indicates poor prognosis.
Title: Overexpression of PREX1 in oral squamous cell carcinoma indicates poor prognosis.
Gbetagamma recruits and activates P-Rex1 via two independent binding interfaces.
Title: Gβγ recruits and activates P-Rex1 via two independent binding interfaces.
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.
PREX1 drives spontaneous bone dissemination of ER+ breast cancer cells.
Title: PREX1 drives spontaneous bone dissemination of ER+ breast cancer cells.
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.

Submit: New GeneRIF Correction See all GeneRIFs (53)

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

EBI GWAS Catalog

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

G32415 (e-PCR)
- UniSTS:117002

SHGC-153381 (e-PCR)
- UniSTS:177711

D20S176 (e-PCR), detects polymorphism
- UniSTS:40497

Z94459 (e-PCR)
- UniSTS:66362

Z94620 (e-PCR)
- UniSTS:22850

A009C21 (e-PCR)
- UniSTS:3151

RH16260 (e-PCR)
- UniSTS:17016

Z94587 (e-PCR)
- UniSTS:18568

RH47999 (e-PCR)
- UniSTS:59792

WI-13364 (e-PCR)
- UniSTS:83345

SHGC-148678 (e-PCR)
- UniSTS:176544

SHGC-3429 (e-PCR)
- UniSTS:173285

G20522 (e-PCR)
- UniSTS:8167

A005U44 (e-PCR)
- UniSTS:8168

D20S866 (e-PCR), detects polymorphism
- UniSTS:60138

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 negative regulation of TOR signaling	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of protein kinase activity	IBA Inferred from Biological aspect of Ancestor 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 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 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

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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)

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

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: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_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000020.11 Reference GRCh38.p14 Primary Assembly

Range

48624252..48888185 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

UniProtKB/TrEMBL

A0A2X0SFH1
XM_047440332.1 → XP_047296288.1 phosphatidylinositol 3,4,5-trisphosphate-dependent Rac exchanger 1 protein isoform X1

UniProtKB/TrEMBL

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

UniProtKB/TrEMBL

A0A2X0SFH1
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 ...
XM_047440334.1 → XP_047296290.1 phosphatidylinositol 3,4,5-trisphosphate-dependent Rac exchanger 1 protein isoform X3

Alternate T2T-CHM13v2.0

Genomic

NC_060944.1 Alternate T2T-CHM13v2.0

Range

50394065..50597825 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

UniProtKB/TrEMBL

A0A2X0SFH1
XM_054323771.1 → XP_054179746.1 phosphatidylinositol 3,4,5-trisphosphate-dependent Rac exchanger 1 protein isoform X2
XM_054323772.1 → XP_054179747.1 phosphatidylinositol 3,4,5-trisphosphate-dependent Rac exchanger 1 protein isoform X3