RAC1 Rac family small GTPase 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: RAC1provided by HGNC
Official Full Name: Rac family small GTPase 1provided by HGNC
Primary source: HGNC:HGNC:9801
See related: Ensembl:ENSG00000136238 MIM:602048; AllianceGenome:HGNC:9801
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: MIG5; MRD48; Rac-1; TC-25; p21-Rac1
Summary: The protein encoded by this gene is a GTPase which belongs to the RAS superfamily of small GTP-binding proteins. Members of this superfamily appear to regulate a diverse array of cellular events, including the control of cell growth, cytoskeletal reorganization, and the activation of protein kinases. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]
Expression: Ubiquitous expression in esophagus (RPKM 113.8), brain (RPKM 110.4) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 7p22.1

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	7	NC_000007.14 (6374527..6403967)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	7	NC_060931.1 (6493927..6523370)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	7	NC_000007.13 (6414158..6443598)

Chromosome 7 - NC_000007.14 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: HPA RNA-seq normal tissues 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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

WNT5B promotes the malignant phenotype of non-small cell lung cancer via the FZD3-DVL3-RAC1-PCP-JNK pathway.
Title: WNT5B promotes the malignant phenotype of non-small cell lung cancer via the FZD3-DVL3-RAC1-PCP-JNK pathway.
Fermitin family member 2 promotes melanoma progression by enhancing the binding of p-alpha-Pix to Rac1 to activate the MAPK pathway.
Title: Fermitin family member 2 promotes melanoma progression by enhancing the binding of p-α-Pix to Rac1 to activate the MAPK pathway.
RAC1-mediated integrin alpha-6 expression in E-cadherin-deficient gastric cancer cells promotes interactions with the stroma and peritoneal dissemination.
Title: RAC1-mediated integrin alpha-6 expression in E-cadherin-deficient gastric cancer cells promotes interactions with the stroma and peritoneal dissemination.
Circular RNA circ_0058123 Targets the miR-939-5p/RAC1 Pathway to Promote the Development of Colorectal Cancer.
Title: Circular RNA circ_0058123 Targets the miR-939-5p/RAC1 Pathway to Promote the Development of Colorectal Cancer.
PlexinA1 promotes gastric cancer migration through preventing MICAL1 protein ubiquitin/proteasome-mediated degradation in a Rac1-dependent manner.
Title: PlexinA1 promotes gastric cancer migration through preventing MICAL1 protein ubiquitin/proteasome-mediated degradation in a Rac1-dependent manner.
Tight junction protein cingulin variant is associated with cancer susceptibility by overexpressed IQGAP1 and Rac1-dependent epithelial-mesenchymal transition.
Title: Tight junction protein cingulin variant is associated with cancer susceptibility by overexpressed IQGAP1 and Rac1-dependent epithelial-mesenchymal transition.
HMGB1 promotes mitochondrial transfer between hepatocellular carcinoma cells through RHOT1 and RAC1 under hypoxia.
Title: HMGB1 promotes mitochondrial transfer between hepatocellular carcinoma cells through RHOT1 and RAC1 under hypoxia.
The Snail signaling branch downstream of the TGF-beta/Smad3 pathway mediates Rho activation and subsequent stress fiber formation.
Title: The Snail signaling branch downstream of the TGF-β/Smad3 pathway mediates Rho activation and subsequent stress fiber formation.
LANCL1, a cell surface protein, promotes liver tumor initiation through FAM49B-Rac1 axis to suppress oxidative stress.
Title: LANCL1, a cell surface protein, promotes liver tumor initiation through FAM49B-Rac1 axis to suppress oxidative stress.
Cell aggregation activates small GTPase Rac1 and induces CD44 cleavage by maintaining lipid raft integrity.
Title: Cell aggregation activates small GTPase Rac1 and induces CD44 cleavage by maintaining lipid raft integrity.

Submit: New GeneRIF Correction See all GeneRIFs (903)

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
Intellectual disability, autosomal dominant 48 MedGen: C4540321 OMIM: 617751 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Replication interactions

Interaction	Pubs
HIV-1 VLP production/release from Jurkat T lymphocytes requires an intact RAC1-WASF2-BAIAP2-ARP3 pathway as demonstrated by siRNA knockdown experiments	PubMed
siRNA knockdown of RAC1 decreases virus production by Jurkat T lymphocytes (HIV VLP) by 50% as shown by immunoblotting as a result of 70% RAC1 knockdown efficiency; HIV VLP production is enhanced by RAC1	PubMed

Protein interactions

Protein	Gene	Interaction	Pubs
Envelope surface glycoprotein gp120	env	SLIT2N, an active fragment of SLIT2, inhibits M-tropic HIV-1 gp120-induced Src signaling and activation of its downstream targets Pyk2, CDC42, Rac1, and paxillin in immature monocyte-derived dendritic cells	PubMed
	env	HIV-1 gp120-induced Pyk2 activation mediated by intracellular Ca2+ release is required for HIV-1 gp120-mediated Rac-1 activation and membrane fusion	PubMed
	env	Inhibition of the RhoA/Rac1 signal cascade by guanine nucleotide dissociation inhibitors limits the HIV-1 gp120-dependent early phase of the viral life cycle	PubMed
	env	PLC-beta activation and intracellular Ca2+ release are required for HIV-1 gp120-mediated Rac-1 activation and membrane fusion via the G-alpha(q/11) family of G proteins	PubMed
	env	HIV-1 gp120 activates LIMK1/2 by increased levels of LIMK1/2 phosphorylation. Gp120-mediated LIMK activation is dependent on the Rack-PAK-LIMK pathway through phosphorylation of PAK2 and Rac1	PubMed
Nef	nef	HIV-1 Nef interacts with Rac1 in a protein complex including DOCK2 and ELMO1	PubMed
	nef	HIV-1 Nef enhances the expression of Rac1 in human podocyte	PubMed
	nef	Rac1 inhibits HIV-1 Nef-mediated CD80 and CD86 relocation from cell surface to the intracellular compartment	PubMed
	nef	HIV-1 Nef binds and activates Nef-associated kinase via interactions with the small GTPases CDC42 and Rac1, which are required for optimal levels of Nef-dependent viral replication in vivo	PubMed
	nef	HIV-1 Nef-mediated activation of Vav induces an increase of active Rac1 levels	PubMed
Pr55(Gag)	gag	HIV-1 Gag is required by the RAC1-WASF2-BAIAP2-ARP3 pathway for HIV VLP production/release from Jurkat T lymphocytes	PubMed
	gag	HIV-1 Gag is localized by RAC1 to the membrane of Jurkat T lymphocytes	PubMed
	gag	HIV-1 Gag activates RAC1 in Jurkat T cells and intracellular F-actin content is increased	PubMed
Tat	tat	Knocking down Nox2 by siRNA blocks HIV-1 Tat-induced reactive oxygen species (ROS) production, increase of NADPH oxidase activity, and Rac1 activation	PubMed
	tat	Multivalent TatP activates Rac1 to slow molecular movement and induce internalization through macropinocytosis	PubMed
	tat	HIV-1 Tat activates the small GTPases Ras and Rac and the mitogen-activated protein kinase ERK when expressed in human endothelial cells; this effect is mediated through the arginine-glycine-aspartic (RGD) region of Tat	PubMed
	tat	In Jurkat cells expressing HIV-1 Tat, decreased expression levels are found for basic cytoskeletal proteins such as actin, beta-tubulin, annexin, cofilin, gelsolin, and Rac/Rho-GDI complex	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D11S2921 (e-PCR)
- UniSTS:152074

GDB:434012 (e-PCR)
- UniSTS:157204

PMC156606P3 (e-PCR)
- UniSTS:271410

D8S2278 (e-PCR)
- UniSTS:473906

PMC156606P4 (e-PCR)
- UniSTS:271411

D8S2279 (e-PCR)
- UniSTS:473907

sY3084 (e-PCR)
- UniSTS:515126

RH65264 (e-PCR)
- UniSTS:86589

D7S2039E (e-PCR)
- UniSTS:151110

GDB:451547 (e-PCR)
- UniSTS:48205

D7S2067E (e-PCR)
- UniSTS:151120

L18426 (e-PCR)
- UniSTS:34648

RH79802 (e-PCR)
- UniSTS:88688

RAC1_2171 (e-PCR)
- UniSTS:280953

D11S3114 (e-PCR)
- UniSTS:152207

D7S2402 (e-PCR)
- UniSTS:154263

SHGC-31947 (e-PCR)
- UniSTS:5020

GDB:631813 (e-PCR)
- UniSTS:158430

GDB:6028658 (e-PCR)
- UniSTS:24802

RAC4__5639 (e-PCR)
- UniSTS:463846

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables G protein activity	IEA Inferred from Electronic Annotation more info
enables GTP binding	IBA Inferred from Biological aspect of Ancestor more info
enables GTP binding	IDA Inferred from Direct Assay more info	PubMed
enables GTP binding	IMP Inferred from Mutant Phenotype more info	PubMed
enables GTPase activity	IBA Inferred from Biological aspect of Ancestor more info
enables GTPase activity	IDA Inferred from Direct Assay more info	PubMed
enables GTPase activity	TAS Traceable Author Statement more info	PubMed
enables Rho GDP-dissociation inhibitor binding	ISS Inferred from Sequence or Structural Similarity more info
enables enzyme binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein kinase binding	IBA Inferred from Biological aspect of Ancestor more info
enables protein kinase binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein-containing complex binding	IDA Inferred from Direct Assay more info	PubMed
enables thioesterase binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in Rac protein signal transduction	IBA Inferred from Biological aspect of Ancestor more info
involved_in Wnt signaling pathway, planar cell polarity pathway	NAS Non-traceable Author Statement more info	PubMed
acts_upstream_of_or_within actin cytoskeleton organization	IGI Inferred from Genetic Interaction more info	PubMed
involved_in actin filament organization	IBA Inferred from Biological aspect of Ancestor more info
involved_in actin filament polymerization	TAS Traceable Author Statement more info	PubMed
involved_in anatomical structure morphogenesis	TAS Traceable Author Statement more info	PubMed
involved_in cell adhesion	TAS Traceable Author Statement more info	PubMed
involved_in cell chemotaxis	IBA Inferred from Biological aspect of Ancestor more info
involved_in cell migration	IDA Inferred from Direct Assay more info	PubMed
involved_in cell migration	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cell motility	IDA Inferred from Direct Assay more info	PubMed
involved_in cell projection assembly	IBA Inferred from Biological aspect of Ancestor more info
involved_in cell-matrix adhesion	NAS Non-traceable Author Statement more info	PubMed
involved_in cortical cytoskeleton organization	IBA Inferred from Biological aspect of Ancestor more info
involved_in establishment or maintenance of cell polarity	IBA Inferred from Biological aspect of Ancestor more info
involved_in hepatocyte growth factor receptor signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in inflammatory response	IC Inferred by Curator more info	PubMed
involved_in intracellular signal transduction	TAS Traceable Author Statement more info	PubMed
involved_in lamellipodium assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in localization within membrane	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in motor neuron axon guidance	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of fibroblast migration	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of interleukin-23 production	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of receptor-mediated endocytosis	TAS Traceable Author Statement more info	PubMed
involved_in neuron migration	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of Rho protein signal transduction	TAS Traceable Author Statement more info	PubMed
involved_in positive regulation of cell-substrate adhesion	IGI Inferred from Genetic Interaction more info	PubMed
involved_in positive regulation of endothelial cell migration	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of focal adhesion assembly	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within positive regulation of lamellipodium assembly	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of lamellipodium assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of microtubule polymerization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of neutrophil chemotaxis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of protein phosphorylation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of stress fiber assembly	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of stress fiber assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of substrate adhesion-dependent cell spreading	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of actin cytoskeleton organization	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of cell migration	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of cell shape	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of cell size	IGI Inferred from Genetic Interaction more info	PubMed
involved_in regulation of cell size	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of hydrogen peroxide metabolic process	TAS Traceable Author Statement more info	PubMed
involved_in regulation of lamellipodium assembly	IGI Inferred from Genetic Interaction more info	PubMed
involved_in regulation of neutrophil migration	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of nitric oxide biosynthetic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of respiratory burst	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of stress fiber assembly	IGI Inferred from Genetic Interaction more info	PubMed
involved_in respiratory burst	NAS Non-traceable Author Statement more info	PubMed
involved_in response to wounding	TAS Traceable Author Statement more info	PubMed
involved_in ruffle assembly	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within ruffle organization	IDA Inferred from Direct Assay more info	PubMed
involved_in ruffle organization	TAS Traceable Author Statement more info	PubMed
involved_in semaphorin-plexin signaling pathway	ISS Inferred from Sequence or Structural Similarity more info
involved_in small GTPase-mediated signal transduction	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in sphingosine-1-phosphate receptor signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in substrate adhesion-dependent cell spreading	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
part_of NADPH oxidase complex	NAS Non-traceable Author Statement more info	PubMed
colocalizes_with actin filament	IDA Inferred from Direct Assay more info	PubMed
located_in cell cortex	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasmic ribonucleoprotein granule	IDA Inferred from Direct Assay more info	PubMed
is_active_in cytoplasmic vesicle	IBA Inferred from Biological aspect of Ancestor more info
is_active_in cytoskeleton	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	ISS Inferred from Sequence or Structural Similarity more info
located_in cytosol	TAS Traceable Author Statement more info
is_active_in dendritic spine	IBA Inferred from Biological aspect of Ancestor more info
located_in endoplasmic reticulum membrane	TAS Traceable Author Statement more info
located_in extracellular exosome	HDA more info	PubMed
located_in ficolin-1-rich granule membrane	TAS Traceable Author Statement more info
located_in focal adhesion	HDA more info	PubMed
is_active_in glutamatergic synapse	IDA Inferred from Direct Assay more info	PubMed
is_active_in glutamatergic synapse	IMP Inferred from Mutant Phenotype more info	PubMed
located_in lamellipodium	IDA Inferred from Direct Assay more info	PubMed
located_in melanosome	IEA Inferred from Electronic Annotation more info
located_in membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	NAS Non-traceable Author Statement more info	PubMed
located_in plasma membrane	TAS Traceable Author Statement more info
is_active_in postsynapse	IDA Inferred from Direct Assay more info	PubMed
is_active_in postsynapse	IMP Inferred from Mutant Phenotype more info	PubMed
located_in recycling endosome membrane	IDA Inferred from Direct Assay more info	PubMed
located_in ruffle membrane	IDA Inferred from Direct Assay more info	PubMed
located_in secretory granule membrane	TAS Traceable Author Statement more info
located_in trans-Golgi network	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: ras-related C3 botulinum toxin substrate 1

Names: cell migration-inducing gene 5 protein; ras-like protein TC25; ras-related C3 botulinum toxin substrate 1 (rho family, small GTP binding protein Rac1)

NP_008839.2

EC 3.6.5.2

NP_061485.1

EC 3.6.5.2

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.

Genomic

NG_029431.1 RefSeqGene

Range

5033..34473

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_006908.5 → NP_008839.2 ras-related C3 botulinum toxin substrate 1 isoform Rac1

See identical proteins and their annotated locations for NP_008839.2

Status: REVIEWED

Description

Transcript Variant: This variant (Rac1) has a 57 bp in-frame deletion of exon 3b in the coding region, as compared to the variant Rac1b.

Source sequence(s)

AC009412

Consensus CDS

CCDS5348.1

UniProtKB/Swiss-Prot

O95501, P15154, P63000, Q3Y4D3, Q5JAA8, Q9BTB4

UniProtKB/TrEMBL

A4D2P1, B1AH80

Related

ENSP00000258737.7, ENST00000348035.9

Conserved Domains (1) summary

cd01871
Location:3 → 176

Rac1_like; Ras-related C3 botulinum toxin substrate 1 (rho family, small GTP binding protein Rac1)-like consists of Rac1, Rac2 and Rac3
NM_018890.4 → NP_061485.1 ras-related C3 botulinum toxin substrate 1 isoform Rac1b

See identical proteins and their annotated locations for NP_061485.1

Status: REVIEWED

Description

Transcript Variant: This variant (Rac1b) includes the alternatively spliced 57 bp region (exon 3b) that is missing in transcript variant Rac1.

Source sequence(s)

AC009412

Consensus CDS

CCDS5349.1

UniProtKB/TrEMBL

A4D2P0, B1AH80

Related

ENSP00000348461.4, ENST00000356142.4

Conserved Domains (1) summary

cd01871
Location:3 → 195

Rac1_like; Ras-related C3 botulinum toxin substrate 1 (rho family, small GTP binding protein Rac1)-like consists of Rac1, Rac2 and Rac3

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_000007.14 Reference GRCh38.p14 Primary Assembly

Range

6374527..6403967

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

NC_060931.1 Alternate T2T-CHM13v2.0

Range

6493927..6523370

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_198829.1: Suppressed sequence

Description

NM_198829.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate if the correct translation start site is annotated.