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RAC1 (Rac family small GTPase 1)
Gene
Gene SNPs Transcription factors Other IDs
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
5879
Gene nameGene Name - the full gene name approved by the HGNC.
Rac family small GTPase 1
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
RAC1
SynonymsGene synonyms aliases
MIG5, MRD48, Rac-1, TC-25, p21-Rac1
ChromosomeChromosome number
7
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
7p22.1
SummarySummary of gene provided in NCBI Entrez 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]
SNPsSNP information provided by dbSNP.
Gene SNPs Transcription factors Other IDs
SNP ID Visualize variation Clinical significance Consequence
rs1057519874 C>A,T Not-provided, likely-pathogenic Missense variant, coding sequence variant
rs1057519948 C>T Likely-pathogenic Missense variant, coding sequence variant
rs1554263326 G>A Pathogenic Coding sequence variant, missense variant
rs1554263624 A>G Pathogenic Coding sequence variant, missense variant
rs1554263625 G>A,C Pathogenic Coding sequence variant, missense variant
miRNAmiRNA information provided by mirtarbase database.
Gene SNPs Transcription factors Other IDs
miRTarBase ID miRNA Experiments Reference
MIRT000663 hsa-miR-122-5p Luciferase reporter assay, 19935707
MIRT000663 hsa-miR-122-5p Microarray, qRT-PCR, Western blot 26540468
MIRT005890 hsa-miR-194-5p Luciferase reporter assay, qRT-PCR, Western blot 20979124
MIRT006370 hsa-miR-142-3p GFP reporter assay 21482222
MIRT006370 hsa-miR-142-3p Luciferase reporter assay, qRT-PCR, Western blot 24743945
Transcription factors
Gene SNPs Transcription factors Other IDs
Transcription factor Regulation Reference
PTTG1 Activation 22081074
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs Transcription factors Other IDs
GO ID Ontology Definition Evidence Reference
GO:0000139 Component Golgi membrane IEA
GO:0001764 Process Neuron migration ISS
GO:0001934 Process Positive regulation of protein phosphorylation IMP 23633677
GO:0002551 Process Mast cell chemotaxis IEA
GO:0003376 Process Sphingosine-1-phosphate receptor signaling pathway IMP 18558630
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs Transcription factors Other IDs
MIM
HGNC
e!Ensembl
Protein
Gene SNPs Transcription factors Other IDs
UniProt ID P63000
Protein name Ras-related C3 botulinum toxin substrate 1 (EC 3.6.5.2) (Cell migration-inducing gene 5 protein) (Ras-like protein TC25) (p21-Rac1)
Protein 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 hippocampal neurons, involved in spine morphogenesis and synapse formation, through local activation at synapses by guanine nucleotide exchange factors (GEFs), such as ARHGEF6/ARHGEF7/PIX (PubMed:12695502). In synapses, seems to mediate the regulation of F-actin cluster formation performed by SHANK3. In neurons, plays a crucial role in regulating GABA(A) receptor synaptic stability and hence GABAergic inhibitory synaptic transmission through its role in PAK1 activation and eventually F-actin stabilization (By similarity). ; 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.
PDB 1E96 , 1FOE , 1G4U , 1HE1 , 1HH4 , 1I4D , 1I4L , 1I4T , 1MH1 , 1RYF , 1RYH , 2FJU , 2H7V , 2NZ8 , 2P2L , 2RMK , 2VRW , 2WKP , 2WKQ , 2WKR , 2YIN , 3B13 , 3BJI , 3RYT , 3SBD , 3SBE , 3SU8 , 3SUA , 3TH5 , 4GZL , 4GZM , 4YON , 5FI0 , 5HZH , 5N6O , 5O33 , 5QQD , 5QQE , 5QQF , 5QQG , 5QQH , 5QQI , 5QQJ , 5QQK , 5QQL , 5QQM , 5QQN , 5QU9 , 6AGP , 6BC1 , 6TGC
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00071 Ras
5 → 178
Ras family
 Domain
Sequence
Sequence length 192
Interactions View interactions

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