Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
5879
Gene name Gene Name - the full gene name approved by the HGNC.
Rac family small GTPase 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
RAC1
Synonyms (NCBI Gene) Gene synonyms aliases
MIG5, MRD48, Rac-1, TC-25, p21-Rac1
Disease Acronyms (UniProt) Disease acronyms from UniProt database
MRD48
Chromosome Chromosome number
7
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
7p22.1
Summary Summary 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 reorgani
SNPs SNP information provided by dbSNP.
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
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT000663 hsa-miR-122-5p Luciferase reporter assay, Review 19935707
MIRT003540 rno-miR-194-5p qRT-PCR, Western blot 19892940
MIRT005890 hsa-miR-194-5p Luciferase reporter assay, qRT-PCR, Western blot 20979124
MIRT005890 hsa-miR-194-5p Luciferase reporter assay, qRT-PCR, Western blot 20979124
MIRT006370 hsa-miR-142-3p GFP reporter assay 21482222
Transcription factors
Transcription factor Regulation Reference
PTTG1 Activation 22081074
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
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 IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
602048 9801 ENSG00000136238
Protein
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
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
Tissue specificity 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 tissu
Sequence
Sequence length 192
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  MAPK signaling pathway
Ras signaling pathway
Rap1 signaling pathway
cAMP signaling pathway
Chemokine signaling pathway
Sphingolipid signaling pathway
Phagosome
Efferocytosis
PI3K-Akt signaling pathway
Wnt signaling pathway
Axon guidance
VEGF signaling pathway
Osteoclast differentiation
Focal adhesion
Adherens junction
Tight junction
Neutrophil extracellular trap formation
Toll-like receptor signaling pathway
Natural killer cell mediated cytotoxicity
B cell receptor signaling pathway
Fc epsilon RI signaling pathway
Fc gamma R-mediated phagocytosis
Leukocyte transendothelial migration
Neurotrophin signaling pathway
Regulation of actin cytoskeleton
Non-alcoholic fatty liver disease
AGE-RAGE signaling pathway in diabetic complications
Pancreatic secretion
Amyotrophic lateral sclerosis
Prion disease
Pathways of neurodegeneration - multiple diseases
Bacterial invasion of epithelial cells
Epithelial cell signaling in Helicobacter pylori infection
Pathogenic Escherichia coli infection
Shigellosis
Salmonella infection
Yersinia infection
Human cytomegalovirus infection
Kaposi sarcoma-associated herpesvirus infection
Epstein-Barr virus infection
Human immunodeficiency virus 1 infection
Pathways in cancer
Viral carcinogenesis
Proteoglycans in cancer
Chemical carcinogenesis - reactive oxygen species
Colorectal cancer
Renal cell carcinoma
Pancreatic cancer
Choline metabolism in cancer
Diabetic cardiomyopathy
Viral myocarditis
Lipid and atherosclerosis
Fluid shear stress and atherosclerosis
  GPVI-mediated activation cascade
PIP3 activates AKT signaling
Signaling by SCF-KIT
Nef and signal transduction
NRAGE signals death through JNK
Rho GTPase cycle
Regulation of actin dynamics for phagocytic cup formation
Constitutive Signaling by Aberrant PI3K in Cancer
DAP12 signaling
FCERI mediated MAPK activation
DSCAM interactions
CD28 dependent Vav1 pathway
EPHB-mediated forward signaling
Ephrin signaling
EPH-ephrin mediated repulsion of cells
Sema3A PAK dependent Axon repulsion
PCP/CE pathway
Sema4D mediated inhibition of cell attachment and migration
DCC mediated attractive signaling
VEGFA-VEGFR2 Pathway
Signal transduction by L1
VEGFR2 mediated vascular permeability
RHO GTPases activate PKNs
RHO GTPases activate CIT
RHO GTPases activate KTN1
RHO GTPases activate IQGAPs
RHO GTPases activate PAKs
RHO GTPases Activate WASPs and WAVEs
RHO GTPases Activate Formins
RHO GTPases Activate NADPH Oxidases
MAPK6/MAPK4 signaling
Neutrophil degranulation
PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling
PTK6 Regulates RHO GTPases, RAS GTPase and MAP kinases
MET activates RAP1 and RAC1
NTRK2 activates RAC1
FCGR3A-mediated phagocytosis
WNT5:FZD7-mediated leishmania damping
Factors involved in megakaryocyte development and platelet production
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Autism Autistic Disorder rs121964908, rs62643608, rs181327458, rs797046134, rs869312704, rs1555013332, rs876657679, rs1057518999, rs1057518658, rs771827120, rs1555187899, rs773080572, rs753871454, rs1684130791, rs1684180699
View all (8 more)
22843504
Basal cell neoplasm Basal Cell Neoplasm, Basal Cell Cancer rs587776578, rs587776579, rs2117956624, rs2118419579, rs2118365442, rs2118041703, rs2136689212, rs2118336503, rs1587692888, rs267606984, rs878853849, rs1554695110, rs1064793921, rs1588605348, rs1588568813 31174203
Bicuspid aortic valve Bicuspid aortic valve rs1569484234, rs1569484208
Carcinoma Basal cell carcinoma rs121912654, rs555607708, rs786202962, rs1564055259 31174203
Unknown
Disease term Disease name Evidence References Source
Congestive heart failure Congestive heart failure 16155095 ClinVar
Heart failure Heart failure, Left-Sided Heart Failure, Heart Failure, Right-Sided 16155095 ClinVar
Mental depression Mental Depression, Depressive disorder 23416703, 17448908 ClinVar
Myocardial infarction Myocardial Failure 16155095 ClinVar
Associations from Text Mining
Disease Name Relationship Type References
Abnormalities Multiple Associate 37328543
Adams Oliver syndrome Associate 27693507, 36059114
Adenocarcinoma Associate 23525077, 25371063
Adenocarcinoma of Lung Associate 17709373, 31811797, 34731623, 37311571
Adenocarcinoma of Lung Stimulate 33134373
Adenoma Associate 12865273
Adenomatous Polyposis Coli Associate 12865273, 17145773, 34986841
Alzheimer Disease Associate 22142809, 23223568
Alzheimer Disease Stimulate 25676811
Amyotrophic Lateral Sclerosis 2 Juvenile Associate 30224357