RAC1 (Rac family small GTPase 1)

Gene Gene information from NCBI Gene database.
Gene SNPs Transcription factors Other IDs Associated diseases
Entrez ID 5879
Gene name Rac family small GTPase 1
Gene symbol RAC1
Synonyms (NCBI Gene)
MIG5MRD48Rac-1TC-25p21-Rac1
Chromosome 7
Chromosome location 7p22.1
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 reorgani
SNPs SNP information provided by dbSNP.
8
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.
837
Gene SNPs Transcription factors Other IDs Associated diseases
Show/Hide all (837)
miRTarBase ID miRNA Experiments Reference
MIRT000663 hsa-miR-122-5p Luciferase reporter assayReview 19935707
MIRT003540 rno-miR-194-5p qRT-PCRWestern blot 19892940
MIRT005890 hsa-miR-194-5p Luciferase reporter assayqRT-PCRWestern blot 20979124
MIRT005890 hsa-miR-194-5p Luciferase reporter assayqRT-PCRWestern blot 20979124
MIRT006370 hsa-miR-142-3p GFP reporter assay 21482222
Transcription factors Transcription factors information provided by TRRUST V2 database.
1
Gene SNPs Transcription factors Other IDs Associated diseases
Show/Hide all (1)
Transcription factor Regulation Reference
PTTG1 Activation 22081074
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
186
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs Transcription factors Other IDs Associated diseases
MIM HGNC e!Ensembl
602048 9801 ENSG00000136238
Protein Protein information from UniProt database.
Gene SNPs Transcription factors Other IDs Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
47
Gene SNPs Transcription factors Other IDs Associated diseases
Show/Hide Causal Diseases (5)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Global developmental delay Likely pathogenic; Pathogenic rs1554263624 RCV001255401
Intellectual disability, autosomal dominant 48 Likely pathogenic; Pathogenic rs1783105049, rs2115201441, rs2115201389, rs2115201430, rs2115218399, rs2534029571, rs1554263626, rs2534029561, rs2115201406, rs964265383, rs1554263326, rs1554263624, rs1554264268, rs1554263625 RCV001328553
RCV002246381
RCV001808906
RCV002249146
RCV003228808
RCV003228809
RCV003142505
RCV003156716
RCV003156718
RCV003156719
RCV004555018
RCV000513864
RCV000514438
RCV000515033
RCV000514176
RCV000514583
RCV000515028
Neurodevelopmental delay Likely pathogenic; Pathogenic rs1554263624 RCV002274050
Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies Likely pathogenic rs1554263625 RCV003150251
Show/Hide Unknown Diseases (3)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Developmental disorder Likely benign rs2115214243 RCV001843734
Neoplasm - rs1057519948 RCV006273285
RAC1-related disorder Likely benign; Uncertain significance; Benign rs140589960, rs2534029675, rs2115218459, rs148122613, rs139010955 RCV004754973
RCV003402585
RCV003909259
RCV003931729
RCV003950829
Show/Hide Text Mining Associations (176)
Associations from Text MiningDisease 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