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 g... See more...

Aliases for RAC1 Gene

Aliases for RAC1 Gene

  • Rac Family Small GTPase 1 2 3 5
  • Ras-Related C3 Botulinum Toxin Substrate 1 (Rho Family, Small GTP Binding Protein Rac1) 2 3
  • Ras-Related C3 Botulinum Toxin Substrate 1 3 4
  • Cell Migration-Inducing Gene 5 Protein 3 4
  • Ras-Like Protein TC25 3 4
  • P21-Rac1 3 4
  • EC 3.6.5.2 4
  • MRD48 3
  • Rac-1 3
  • TC-25 3
  • MIG5 3
  • TC25 4

External Ids for RAC1 Gene

Previous GeneCards Identifiers for RAC1 Gene

  • GC07P006058
  • GC07P006159
  • GC07P006160
  • GC07P006187

Summaries for RAC1 Gene

Entrez Gene Summary for RAC1 Gene

  • 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]

CIViC Summary for RAC1 Gene

  • The RAC1 P29S mutation is the third most common protein-coding hotspot mutation in melanomas, ocurring in 4-9%. A preclinical study has shown that this mutation confers resistance to BRAF inhibition in-vitro.

GeneCards Summary for RAC1 Gene

RAC1 (Rac Family Small GTPase 1) is a Protein Coding gene. Diseases associated with RAC1 include Mental Retardation, Autosomal Dominant 48 and Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom. Among its related pathways are Vesicle-mediated transport and Non-Canonical Wnt Pathway. Gene Ontology (GO) annotations related to this gene include GTP binding and enzyme binding. An important paralog of this gene is RAC3.

UniProtKB/Swiss-Prot Summary for RAC1 Gene

  • Plasma membrane-associated small GTPase which cycles between active GTP-bound and inactive GDP-bound states. In its active state, binds to a variety of effector proteins to regulate cellular responses such as secretory processes, phagocytosis of apoptotic cells, epithelial cell polarization, neurons adhesion, migration and differentiation, and growth-factor induced formation of membrane ruffles (PubMed:1643658, PubMed:28886345). Rac1 p21/rho GDI heterodimer is the active component of the cytosolic factor sigma 1, which is involved in stimulation of the NADPH oxidase activity in macrophages. Essential for the SPATA13-mediated regulation of cell migration and adhesion assembly and disassembly. Stimulates PKN2 kinase activity (PubMed:9121475). In concert with RAB7A, plays a role in regulating the formation of RBs (ruffled borders) in osteoclasts (PubMed:1643658). In podocytes, promotes nuclear shuttling of NR3C2; this modulation is required for a proper kidney functioning. Required for atypical chemokine receptor ACKR2-induced LIMK1-PAK1-dependent phosphorylation of cofilin (CFL1) and for up-regulation of ACKR2 from endosomal compartment to cell membrane, increasing its efficiency in chemokine uptake and degradation. In neurons, is involved in dendritic spine formation and synaptic plasticity (By similarity). In synapses, seems to mediate the regulation of F-actin cluster formation performed by SHANK3.
  • Isoform B has an accelerated GEF-independent GDP/GTP exchange and an impaired GTP hydrolysis, which is restored partially by GTPase-activating proteins. It is able to bind to the GTPase-binding domain of PAK but not full-length PAK in a GTP-dependent manner, suggesting that the insertion does not completely abolish effector interaction.

Tocris Summary for RAC1 Gene

  • Small G proteins (small GTPases) are homologous to Galpha proteins and are often referred to as the Ras proto-oncogene superfamily. Small GTPases regulate a wide variety of processes in the cell, including growth, differentiation, movement and lipid vesicle transport.

Gene Wiki entry for RAC1 Gene

Additional gene information for RAC1 Gene

No data available for PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for RAC1 Gene

Genomics for RAC1 Gene

GeneHancer (GH) Regulatory Elements for RAC1 Gene

Promoters and enhancers for RAC1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around RAC1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the RAC1 gene promoter:
  • AP-1
  • SRF (504 AA)
  • STAT5A
  • YY1

Genomic Locations for RAC1 Gene

Genomic Locations for RAC1 Gene
chr7:6,374,495-6,403,967
(GRCh38/hg38)
Size:
29,473 bases
Orientation:
Plus strand
chr7:6,414,126-6,443,608
(GRCh37/hg19)
Size:
29,483 bases
Orientation:
Plus strand

Genomic View for RAC1 Gene

Genes around RAC1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RAC1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RAC1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RAC1 Gene

Proteins for RAC1 Gene

  • Protein details for RAC1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P63000-RAC1_HUMAN
    Recommended name:
    Ras-related C3 botulinum toxin substrate 1
    Protein Accession:
    P63000
    Secondary Accessions:
    • O95501
    • P15154
    • Q3Y4D3
    • Q5JAA8
    • Q9BTB4

    Protein attributes for RAC1 Gene

    Size:
    192 amino acids
    Molecular mass:
    21450 Da
    Quaternary structure:
    • Interacts with NISCH. Interacts with PIP5K1A. Interacts with the GTP-bound form of RAB7A. Interacts with SRGAP2. Interacts with CYFIP1/SRA-1. Interacts with PLXNB3. Interacts with ARHGDIA; the interaction is induced by SEMA5A, mediated through PLXNB3 and inactivates and stabilizes RAC1. Interacts (GTP-bound form preferentially) with PKN2 (via the REM repeats); the interaction stimulates autophosphorylation and phosphorylation of PKN2. Interacts with the GEF proteins PREX1, RASGRF2, FARP1, FARP2, DOCK1, DOCK2 and DOCK7, which promote the exchange between GDP and GTP, and therefore activate it. Interacts with PARD6A, PARD6B and PARD6G in a GTP-dependent manner. Part of a quaternary complex containing PARD3, some PARD6 protein (PARD6A, PARD6B or PARD6G) and some atypical PKC protein (PRKCI or PRKCZ), which plays a central role in epithelial cell polarization. Found in a trimeric complex composed of DOCK1 and ELMO1, which plays a central role in phagocytosis of apoptotic cells. Interacts with RALBP1 via its effector domain. Interacts with PLXNB1. Probably found in a ternary complex composed of DSCAM, PAK1 and RAC1. Interacts with DSCAM; the interaction requires PAK1. Part of a complex with MAP2K3, MAP3K3, CCM2 and DEF6. Interacts with BAIAP2, BAIAP2L1 and DEF6. Interacts with Y.pseudotuberculosis YPKA and PLCB2. Interacts with NOXA1. Interacts with ARHGEF2. Interacts with TBC1D2. Interacts with UNKL. Interacts with USP6. Interacts with SPATA13. Interacts with ARHGEF16; mediates activation of RAC1 by EPHA2. Interacts with ITGB4. Interacts with S100A8 and calprotectin (S100A8/9). Interacts with PACSIN2. Interacts with ITGB1BP1. Interacts (when active) with PPP5C (via TPR repeats); activates PPP5C phosphatase activity and translocates PPP5C to the cell membrane. Interacts with RAPH1 (via Ras associating and PH domains) (PubMed:18499456). Interacts with MTSS2 (via IMD domain); this interaction may be important to potentiate PDGF-induced RAC1 activation (PubMed:20875796). Interacts with PAK2 (PubMed:20696164). Interacts (GTP-bound form) with SH3RF1 and SH3RF3 (PubMed:20696164). Found in a complex with SH3RF1, MAPK8IP1/JIP1, MAP3K11/MLK3, MAP2K7/MKK7 and MAPK8/JNK1. Interacts (both active GTP- or inactive GDP-bound forms) with SH3RF2 (By similarity).
    SequenceCaution:
    • Sequence=AAZ80485.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for RAC1 Gene

    Alternative splice isoforms for RAC1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for RAC1 Gene

Post-translational modifications for RAC1 Gene

  • (Microbial infection) AMPylation at Tyr-32 and Thr-35 are mediated by bacterial enzymes in case of infection by H.somnus and V.parahaemolyticus, respectively. AMPylation occurs in the effector region and leads to inactivation of the GTPase activity by preventing the interaction with downstream effectors, thereby inhibiting actin assembly in infected cells. It is unclear whether some human enzyme mediates AMPylation; FICD has such ability in vitro but additional experiments remain to be done to confirm results in vivo.
  • GTP-bound active form is ubiquitinated by HACE1, leading to its degradation by the proteasome.
  • (Microbial infection) Glycosylated at Tyr-32 by Photorhabdus asymbiotica toxin PAU_02230. Mono-O-GlcNAcylation by PAU_02230 inhibits downstream signaling by an impaired interaction with diverse regulator and effector proteins of Rac and leads to actin disassembly.
  • Glycosylation at Tyr32
  • Ubiquitination at Lys116, Lys133, Lys147, and Lys153
  • Modification sites at PhosphoSitePlus

Other Protein References for RAC1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Abcam antibodies for RAC1

No data available for DME Specific Peptides for RAC1 Gene

Domains & Families for RAC1 Gene

Gene Families for RAC1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Predicted intracellular proteins

Protein Domains for RAC1 Gene

Suggested Antigen Peptide Sequences for RAC1 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ77333, highly similar to Homo sapiens ras-related C3 botulinum toxin substrate 1 (rho family, small GTP binding protein Rac1) (RAC1), transcript variant Rac1b, mRNA (A4D2P0_HUMAN)
  • cDNA FLJ75553, highly similar to Homo sapiens ras-related C3 botulinum toxin substrate 1 (rho family, small GTP binding protein Rac1) (RAC1), transcript variant Rac1, mRNA (A4D2P1_HUMAN)
  • Ras-related C3 botulinum toxin substrate 1 (Rho family, small GTP binding protein Rac1), isoform CRA_b (A4D2P2_HUMAN)
  • p21-Rac1 (RAC1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P63000

UniProtKB/Swiss-Prot:

RAC1_HUMAN :
  • The effector region mediates interaction with DEF6.
  • Belongs to the small GTPase superfamily. Rho family.
Domain:
  • The effector region mediates interaction with DEF6.
Family:
  • Belongs to the small GTPase superfamily. Rho family.
genes like me logo Genes that share domains with RAC1: view

Function for RAC1 Gene

Molecular function for RAC1 Gene

UniProtKB/Swiss-Prot Function:
Plasma membrane-associated small GTPase which cycles between active GTP-bound and inactive GDP-bound states. In its active state, binds to a variety of effector proteins to regulate cellular responses such as secretory processes, phagocytosis of apoptotic cells, epithelial cell polarization, neurons adhesion, migration and differentiation, and growth-factor induced formation of membrane ruffles (PubMed:1643658, PubMed:28886345). Rac1 p21/rho GDI heterodimer is the active component of the cytosolic factor sigma 1, which is involved in stimulation of the NADPH oxidase activity in macrophages. Essential for the SPATA13-mediated regulation of cell migration and adhesion assembly and disassembly. Stimulates PKN2 kinase activity (PubMed:9121475). In concert with RAB7A, plays a role in regulating the formation of RBs (ruffled borders) in osteoclasts (PubMed:1643658). In podocytes, promotes nuclear shuttling of NR3C2; this modulation is required for a proper kidney functioning. Required for atypical chemokine receptor ACKR2-induced LIMK1-PAK1-dependent phosphorylation of cofilin (CFL1) and for up-regulation of ACKR2 from endosomal compartment to cell membrane, increasing its efficiency in chemokine uptake and degradation. In neurons, is involved in dendritic spine formation and synaptic plasticity (By similarity). In synapses, seems to mediate the regulation of F-actin cluster formation performed by SHANK3.
UniProtKB/Swiss-Prot Function:
Isoform B has an accelerated GEF-independent GDP/GTP exchange and an impaired GTP hydrolysis, which is restored partially by GTPase-activating proteins. It is able to bind to the GTPase-binding domain of PAK but not full-length PAK in a GTP-dependent manner, suggesting that the insertion does not completely abolish effector interaction.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=GTP + H2O = GDP + H(+) + phosphate; Xref=Rhea:RHEA:19669, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:37565, ChEBI:CHEBI:43474, ChEBI:CHEBI:58189; EC=3.6.5.2; Evidence=. ; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:19670; Evidence=. ;.
UniProtKB/Swiss-Prot EnzymeRegulation:
Regulated by guanine nucleotide exchange factors (GEFs) which promote the exchange of bound GDP for free GTP, GTPase activating proteins (GAPs) which increase the GTP hydrolysis activity, and GDP dissociation inhibitors which inhibit the dissociation of the nucleotide from the GTPase. GTP hydrolysis is stimulated by ARHGAP30.

Enzyme Numbers (IUBMB) for RAC1 Gene

Phenotypes From GWAS Catalog for RAC1 Gene

Gene Ontology (GO) - Molecular Function for RAC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0003924 GTPase activity TAS,IBA 9312003
GO:0005515 protein binding IPI 7673236
GO:0005525 GTP binding IMP,IBA 19625648
GO:0017137 Rab GTPase binding IEA --
genes like me logo Genes that share ontologies with RAC1: view

Phenotypes for RAC1 Gene

MGI mutant phenotypes for RAC1:
inferred from 7 alleles
GenomeRNAi human phenotypes for RAC1:
genes like me logo Genes that share phenotypes with RAC1: view

Human Phenotype Ontology for RAC1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for RAC1 Gene

MGI Knock Outs for RAC1:

Animal Model Products

CRISPR Products

miRNA for RAC1 Gene

miRTarBase miRNAs that target RAC1

Clone Products

  • Addgene plasmids for RAC1

No data available for Transcription Factor Targets and HOMER Transcription for RAC1 Gene

Localization for RAC1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for RAC1 Gene

Cell membrane; Lipid-anchor; Cytoplasmic side. Melanosome. Cytoplasm. Cell projection, lamellipodium. Note=Inner surface of plasma membrane possibly with attachment requiring prenylation of the C-terminal cysteine (PubMed:1903399). Identified by mass spectrometry in melanosome fractions from stage I to stage IV (PubMed:17081065). Found in the ruffled border (a late endosomal-like compartment in the plasma membrane) of bone-resorbing osteoclasts. Localizes to the lamellipodium in a SH3RF1-dependent manner (By similarity). In macrophages, cytoplasmic location increases upon CSF1 stimulation (By similarity). {ECO:0000250 UniProtKB:P63001, ECO:0000250 UniProtKB:Q6RUV5, ECO:0000269 PubMed:17081065, ECO:0000269 PubMed:1903399}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for RAC1 gene
Compartment Confidence
plasma membrane 5
endosome 5
cytosol 5
golgi apparatus 5
endoplasmic reticulum 4
extracellular 2
cytoskeleton 2
nucleus 2
mitochondrion 1
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nucleoli (2)
  • Nucleus (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for RAC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane IEA --
GO:0005622 intracellular IEA --
GO:0005737 cytoplasm IDA,IBA 19625648
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0005802 trans-Golgi network IDA 12915445
genes like me logo Genes that share ontologies with RAC1: view

Pathways & Interactions for RAC1 Gene

genes like me logo Genes that share pathways with RAC1: view

Pathways by source for RAC1 Gene

76 Qiagen pathways for RAC1 Gene
  • Actin Nucleation and Branching
  • Actin Nucleation by ARP-WASP Complex
  • Actin-Based Motility by Rho Family GTPases
  • Activation of PKC through GPCR
  • Agrin Interactions at Neuromuscular Junction
2 Cell Signaling Technology pathways for RAC1 Gene
4 GeneTex pathways for RAC1 Gene

SIGNOR curated interactions for RAC1 Gene

Gene Ontology (GO) - Biological Process for RAC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001764 neuron migration ISS --
GO:0001934 positive regulation of protein phosphorylation IMP 23633677
GO:0002551 mast cell chemotaxis IEA --
GO:0006935 chemotaxis IEA --
GO:0006954 inflammatory response TAS 9572733
genes like me logo Genes that share ontologies with RAC1: view

Drugs & Compounds for RAC1 Gene

(62) Drugs for RAC1 Gene - From: DrugBank, ApexBio, HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Azathioprine Approved Pharma Target 212
Pravastatin Approved Pharma Competitive, Inhibitor 161
Simvastatin Approved Pharma Competitive, Inhibitor HMG-CoA reductase inhibitor 568
Dextromethorphan Approved Pharma Target, inhibitor 162
Guanosine diphosphate Experimental Pharma Target 0

(43) Additional Compounds for RAC1 Gene - From: Novoseek and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Rac1 Inhibitor F56, control peptide
1315378-77-8
Rac1 Inhibitor W56
1095179-01-3
SecinH3
853625-60-2

(5) Tocris Compounds for RAC1 Gene

Compound Action Cas Number
NSC 23766 Selective inhibitor of Rac1-GEF interaction; antioncogenic 1177865-17-6
QS 11 ARFGAP1 inhibitor; modulates Wnt/beta-catenin signaling 944328-88-5
Rac1 Inhibitor F56, control peptide Control peptide version of Rac1 Inhibitor W56 (Cat. No. 2221) 1315378-77-8
Rac1 Inhibitor W56 Selective inhibitor of Rac1-GEF interaction 1095179-01-3
SecinH3 Sec7-specific GEF inhibitor (cytohesins) 853625-60-2

(7) ApexBio Compounds for RAC1 Gene

Compound Action Cas Number
Dynamin inhibitory peptide Peptide inhibitor of GTPase dynamin 251634-21-6
Dynole 34-2 1128165-88-7
EHop-016 Rac1/Rac3 GTPase inhibitor,potent and specific 1380432-32-5
EHT 1864 Rac family small GTPases inhibitor 754240-09-0
MitMAB 1119-97-7
NSC 23766 Selective inhibitor of Rac1-GEF interaction. 1177865-17-6
OctMAB 1120-02-1
genes like me logo Genes that share compounds with RAC1: view

Transcripts for RAC1 Gene

CRISPR Products

Clone Products

  • Addgene plasmids for RAC1

Alternative Splicing Database (ASD) splice patterns (SP) for RAC1 Gene

No ASD Table

Relevant External Links for RAC1 Gene

GeneLoc Exon Structure for
RAC1
ECgene alternative splicing isoforms for
RAC1

Expression for RAC1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for RAC1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for RAC1 Gene



Protein tissue co-expression partners for RAC1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of RAC1 Gene:

RAC1

SOURCE GeneReport for Unigene cluster for RAC1 Gene:

Hs.413812

mRNA Expression by UniProt/SwissProt for RAC1 Gene:

P63000-RAC1_HUMAN
Tissue specificity: Isoform B is predominantly identified in skin and epithelial tissues from the intestinal tract. Its expression is elevated in colorectal tumors at various stages of neoplastic progression, as compared to their respective adjacent tissues.

Evidence on tissue expression from TISSUES for RAC1 Gene

  • Intestine(4.9)
  • Pancreas(4.9)
  • Skin(4.8)
  • Nervous system(4.7)
  • Lung(4.2)
  • Kidney(3.2)
  • Eye(3.1)
  • Muscle(3.1)
  • Heart(3)
  • Blood(2.5)
  • Liver(2.5)
  • Stomach(2.5)
  • Spleen(2.1)
  • Lymph node(2)
genes like me logo Genes that share expression patterns with RAC1: view

No data available for mRNA differential expression in normal tissues , Protein differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for RAC1 Gene

Orthologs for RAC1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for RAC1 Gene

Organism Taxonomy Gene Similarity Type Details
platypus
(Ornithorhynchus anatinus)
Mammalia RAC1 33
  • 100 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia RAC1 33
  • 100 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia RAC1 33 32
  • 99.48 (n)
OneToMany
-- 33
  • 90 (a)
OneToMany
dog
(Canis familiaris)
Mammalia RAC1 33 32
  • 93.58 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Rac1 17 33 32
  • 91.67 (n)
rat
(Rattus norvegicus)
Mammalia Rac1 32
  • 90.97 (n)
cow
(Bos Taurus)
Mammalia RAC1 33 32
  • 90.1 (n)
OneToOne
chicken
(Gallus gallus)
Aves CRAC1A 33
  • 100 (a)
OneToOne
RAC1 32
  • 88.19 (n)
lizard
(Anolis carolinensis)
Reptilia RAC1 33
  • 100 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia rac1 32
  • 85.24 (n)
Str.6635 32
African clawed frog
(Xenopus laevis)
Amphibia Xl.26588 32
zebrafish
(Danio rerio)
Actinopterygii rac1b 33 33
  • 98 (a)
OneToMany
RAC1 (6 of 8) 33
  • 88 (a)
OneToMany
rac1a 33 32
  • 80.21 (n)
OneToMany
rac1l 33
  • 71 (a)
OneToMany
RAC1 (1 of 8) 33
  • 71 (a)
OneToMany
RAC1 (8 of 8) 33
  • 65 (a)
OneToMany
RAC1 (7 of 8) 33
  • 52 (a)
OneToMany
zgc55823 32
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.8916 32
fruit fly
(Drosophila melanogaster)
Insecta Rac2 33 34
  • 90 (a)
ManyToMany
Rac1 33 34 32
  • 73.78 (n)
ManyToMany
Mtl 34
  • 71 (a)
RhoL 34
  • 53 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005445 32
  • 73.44 (n)
worm
(Caenorhabditis elegans)
Secernentea ced-10 34
  • 97 (a)
rac-2 33
  • 75 (a)
ManyToMany
cdc-42 34
  • 69 (a)
mig-2 34
  • 67 (a)
F22E12.2 34
  • 48 (a)
Y32F6B.3 34
  • 45 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons ARAC1 32
  • 60.14 (n)
rice
(Oryza sativa)
Liliopsida Os02g0120800 32
  • 58.79 (n)
Species where no ortholog for RAC1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for RAC1 Gene

ENSEMBL:
Gene Tree for RAC1 (if available)
TreeFam:
Gene Tree for RAC1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for RAC1: view image

Paralogs for RAC1 Gene

(37) SIMAP similar genes for RAC1 Gene using alignment to 5 proteins:

  • RAC1_HUMAN
  • A4D2P0_HUMAN
  • A4D2P1_HUMAN
  • A4D2P2_HUMAN
  • W0UV93_HUMAN
genes like me logo Genes that share paralogs with RAC1: view

Variants for RAC1 Gene

Sequence variations from dbSNP and Humsavar for RAC1 Gene

SNP ID Clin Chr 07 pos Variation AA Info Type
rs1057519874 likely-pathogenic, not-provided, Squamous cell carcinoma of the head and neck, Malignant melanoma of skin, Squamous cell carcinoma of the skin, Malignant neoplasm of body of uterus, Cutaneous melanoma 6,387,261(+) C/A/T coding_sequence_variant, missense_variant
rs1057519948 likely-pathogenic, Malignant neoplasm of body of uterus, Squamous cell carcinoma of the skin, Squamous cell carcinoma of the head and neck, Malignant melanoma of skin 6,387,262(+) C/T coding_sequence_variant, missense_variant
rs1554263326 pathogenic, MENTAL RETARDATION, AUTOSOMAL DOMINANT 48, Mental retardation, autosomal dominant 48 (MRD48) [MIM:617751] 6,387,229(+) G/A coding_sequence_variant, missense_variant
rs1554263624 pathogenic, MENTAL RETARDATION, AUTOSOMAL DOMINANT 48, Mental retardation, autosomal dominant 48 (MRD48) [MIM:617751] 6,391,932(+) A/G coding_sequence_variant, missense_variant
rs1554263625 pathogenic, MENTAL RETARDATION, AUTOSOMAL DOMINANT 48, Mental retardation, autosomal dominant 48 (MRD48) [MIM:617751] 6,391,967(+) G/A/C coding_sequence_variant, missense_variant

Structural Variations from Database of Genomic Variants (DGV) for RAC1 Gene

Variant ID Type Subtype PubMed ID
esv1914954 OTHER inversion 16254605
nsv1020236 CNV gain 25217958
nsv1114914 CNV deletion 24896259
nsv436904 CNV insertion 17901297
nsv605999 CNV loss 21841781
nsv7392 OTHER inversion 18451855
nsv956982 CNV deletion 24416366

Variation tolerance for RAC1 Gene

Residual Variation Intolerance Score: 39.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.17; 3.87% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for RAC1 Gene

Human Gene Mutation Database (HGMD)
RAC1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
RAC1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RAC1 Gene

Disorders for RAC1 Gene

MalaCards: The human disease database

(11) MalaCards diseases for RAC1 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search RAC1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

RAC1_HUMAN
  • Mental retardation, autosomal dominant 48 (MRD48) [MIM:617751]: A form of mental retardation, a disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRD48 patients manifest global developmental delay and moderate to severe intellectual disability. {ECO:0000269 PubMed:28886345}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for RAC1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with RAC1: view

No data available for Genatlas for RAC1 Gene

Publications for RAC1 Gene

  1. Armus is a Rac1 effector that inactivates Rab7 and regulates E-cadherin degradation. (PMID: 20116244) Frasa MA … Braga VM (Current biology : CB 2010) 3 4 23 56
  2. Cooperation of DEF6 with activated Rac in regulating cell morphology. (PMID: 17121847) Oka T … Fukui Y (The Journal of biological chemistry 2007) 3 4 23 56
  3. Crystal structure of the Rac1-RhoGDI complex involved in nadph oxidase activation. (PMID: 11513578) Grizot S … Pebay-Peyroula E (Biochemistry 2001) 3 4 23 56
  4. Crystal structure of Rac1 in complex with the guanine nucleotide exchange region of Tiam1. (PMID: 11130063) Worthylake DK … Sondek J (Nature 2000) 3 4 23 56
  5. Cloning of a novel human Rac1b splice variant with increased expression in colorectal tumors. (PMID: 10597294) Jordan P … Chastre E (Oncogene 1999) 2 3 4 56

Products for RAC1 Gene

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