RAC1 (Rac family small GTPase 1)

Gene
Gene SNPs Transcription factors Other IDs Associated diseases
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
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.
Gene SNPs Transcription factors Other IDs Associated diseases
Show/Hide all(8)
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.
Gene SNPs Transcription factors Other IDs Associated diseases
Show/Hide all(837)
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
Gene SNPs Transcription factors Other IDs Associated diseases
Show/Hide all(1)
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 Associated diseases
Show/Hide all(186)
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0000242 Component Pericentriolar material IEA
GO:0001764 Process Neuron migration IEA
GO:0001764 Process Neuron migration ISS
GO:0001891 Component Phagocytic cup IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs Transcription factors Other IDs Associated diseases
MIM HGNC e!Ensembl
602048 9801 ENSG00000136238
Protein
Gene SNPs Transcription factors Other IDs Associated diseases
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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs Transcription factors Other IDs Associated diseases
Show/Hide Causal Diseases (2)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Mental retardation Intellectual disability, autosomal dominant 48 rs1554263326, rs1554264268, rs1554263626, rs1554263625 N/A
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Limb Anomalies neurodevelopmental disorder with dysmorphic facies and distal limb anomalies rs1554263625 N/A
Show/Hide Unknown Diseases (3)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Carcinoma Basal cell carcinoma N/A N/A GWAS
Coronary artery disease Coronary artery disease N/A N/A GWAS
Metabolic Syndrome Metabolic syndrome N/A N/A GWAS
Show/Hide Text Mining Associations (176)
Associations from Text Mining Disease associations identified through Pubtator
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