RAC3 Rac family small GTPase 3 [Homo sapiens (human)] - Gene

Summary

Official Symbol: RAC3provided by HGNC
Official Full Name: Rac family small GTPase 3provided by HGNC
Primary source: HGNC:HGNC:9803
See related: Ensembl:ENSG00000169750 MIM:602050; AllianceGenome:HGNC:9803
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
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. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2015]
Annotation information: Note: RAC3 (Gene ID: 5881) and NCOA3 (Gene ID: 8202) share the RAC3 symbol/alias in common. RAC3 is a widely used alternative name for nuclear receptor coactivator 3 (NCOA3), which can be confused with the official symbol for ras-related C3 botulinum toxin substrate 3 (RAC3). [06 Jul 2018]
Expression: Broad expression in testis (RPKM 10.2), brain (RPKM 6.3) and 22 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 17q25.3

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	17	NC_000017.11 (82031678..82034204)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	17	NC_060941.1 (82898837..82901362)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	17	NC_000017.10 (79989554..79992080)

Chromosome 17 - NC_000017.11 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: 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?

Establishment of a prognostic model to predict chemotherapy response and identification of RAC3 as a chemotherapeutic target in bladder cancer.
Title: Establishment of a prognostic model to predict chemotherapy response and identification of RAC3 as a chemotherapeutic target in bladder cancer.
Gain-of-function p.F28S variant in RAC3 disrupts neuronal differentiation, migration and axonogenesis during cortical development, leading to neurodevelopmental disorder.
Title: Gain-of-function p.F28S variant in RAC3 disrupts neuronal differentiation, migration and axonogenesis during cortical development, leading to neurodevelopmental disorder.
Variant-specific changes in RAC3 function disrupt corticogenesis in neurodevelopmental phenotypes.
Title: Variant-specific changes in RAC3 function disrupt corticogenesis in neurodevelopmental phenotypes.
Hypomethylated gene RAC3 induces cell proliferation and invasion by increasing FASN expression in endometrial cancer.
Title: Hypomethylated gene RAC3 induces cell proliferation and invasion by increasing FASN expression in endometrial cancer.
Pathophysiological Mechanisms in Neurodevelopmental Disorders Caused by Rac GTPases Dysregulation: What's behind Neuro-RACopathies.
Title: Pathophysiological Mechanisms in Neurodevelopmental Disorders Caused by Rac GTPases Dysregulation: What's behind Neuro-RACopathies.
Rac3 Expression and its Clinicopathological Significance in Patients With Bladder Cancer.
Title: Rac3 Expression and its Clinicopathological Significance in Patients With Bladder Cancer.
Rac Family Small GTPase 3 Correlates with Progression and Poor Prognosis in Bladder Cancer.
Title: Rac Family Small GTPase 3 Correlates with Progression and Poor Prognosis in Bladder Cancer.
Our study supports that RAC3 variants cause syndromic neurodevelopmental disorders and brain structural abnormality, and expands the phenotypic spectrum of RAC3-related disorders.
Title: A de novo variant in RAC3 causes severe global developmental delay and a middle interhemispheric variant of holoprosencephaly.
Missense variants in RAC3 cause a novel brain disorder, likely through a mechanism of constitutive protein activation
Title: De novo missense variants in RAC3 cause a novel neurodevelopmental syndrome.
Rac3 regulates breast cancer invasion and metastasis by controlling adhesion and matrix degradation.
Title: Rac3 regulates breast cancer invasion and metastasis by controlling adhesion and matrix degradation.

Submit: New GeneRIF Correction See all GeneRIFs (24)

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
Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies MedGen: C5231416 OMIM: 618577 GeneReviews: Not available	not available

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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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 GTPase activity	IBA Inferred from Biological aspect of Ancestor more info
enables GTPase activity	IDA Inferred from Direct Assay more info	PubMed
enables calcium-dependent protein 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

Process	Evidence Code	Pubs
involved_in Rac protein signal transduction	IBA Inferred from Biological aspect of Ancestor more info
involved_in Wnt signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in actin cytoskeleton organization	IDA Inferred from Direct Assay more info	PubMed
involved_in actin filament organization	IBA Inferred from Biological aspect of Ancestor more info
involved_in cell chemotaxis	IBA Inferred from Biological aspect of Ancestor more info
involved_in cell projection assembly	IBA Inferred from Biological aspect of Ancestor more info
involved_in cell projection assembly	IDA Inferred from Direct Assay more info	PubMed
involved_in cerebral cortex GABAergic interneuron development	IEA Inferred from Electronic Annotation more info
involved_in cortical cytoskeleton organization	IBA Inferred from Biological aspect of Ancestor more info
involved_in engulfment of apoptotic cell	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 homeostasis of number of cells within a tissue	IEA Inferred from Electronic Annotation more info
involved_in intracellular signal transduction	TAS Traceable Author Statement more info	PubMed
involved_in motor neuron axon guidance	IBA Inferred from Biological aspect of Ancestor more info
involved_in neuromuscular process controlling balance	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of cell adhesion mediated by integrin	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of substrate adhesion-dependent cell spreading	IDA Inferred from Direct Assay more info	PubMed
involved_in postsynaptic actin cytoskeleton organization	IDA Inferred from Direct Assay more info	PubMed
involved_in postsynaptic actin cytoskeleton organization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of actin cytoskeleton organization	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of cell shape	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of neuron maturation	IEA Inferred from Electronic Annotation more info
involved_in regulation of neutrophil migration	IBA Inferred from Biological aspect of Ancestor more info
involved_in respiratory burst	NAS Non-traceable Author Statement more info	PubMed
involved_in synaptic transmission, GABAergic	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
part_of NADPH oxidase complex	NAS Non-traceable Author Statement more info	PubMed
located_in cell periphery	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	TAS Traceable Author Statement more info
located_in endomembrane system	IDA Inferred from Direct Assay more info	PubMed
located_in endoplasmic reticulum membrane	TAS Traceable Author Statement more info
located_in extracellular exosome	HDA more info	PubMed
part_of filamentous actin	IDA Inferred from Direct Assay 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 growth cone	IDA Inferred from Direct Assay more info	PubMed
located_in lamellipodium	IEA Inferred from Electronic Annotation more info
is_active_in neuron projection	IBA Inferred from Biological aspect of Ancestor more info
located_in neuron projection	IDA Inferred from Direct Assay more info	PubMed
located_in neuronal cell body	IDA Inferred from Direct Assay more info	PubMed
located_in perinuclear region of cytoplasm	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	NAS Non-traceable Author Statement more info	PubMed
located_in plasma membrane	TAS Traceable Author Statement more info

General protein information

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Preferred Names: ras-related C3 botulinum toxin substrate 3

Names: p21-Rac3; ras-related C3 botulinum toxin substrate 3 (rho family, small GTP binding protein Rac3); rho family, small GTP binding protein Rac3

NP_001303236.1

EC 3.6.5.2

NP_005043.1

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.

mRNA and Protein(s)

NM_001316307.2 → NP_001303236.1 ras-related C3 botulinum toxin substrate 3 isoform 2

Status: REVIEWED

Description

Transcript Variant: This variant (2) uses an alternate splice site in the 3' coding region, compared to variant 1. This results in a shorter protein (isoform 2), compared to isoform 1

Source sequence(s)

AC137723, AW162931, BF941478, BI668056, BU731383

UniProtKB/TrEMBL

B1AH78

Conserved Domains (1) summary

cl38936
Location:3 → 150

P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
NM_005052.3 → NP_005043.1 ras-related C3 botulinum toxin substrate 3 isoform 1

See identical proteins and their annotated locations for NP_005043.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes the longer isoform (1).

Source sequence(s)

BC009605, BU731383

Consensus CDS

CCDS11798.1

UniProtKB/Swiss-Prot

O14658, P60763, Q5U0M8

UniProtKB/TrEMBL

B1AH78

Related

ENSP00000304283.4, ENST00000306897.9

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