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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
25
Gene SNPs Transcription factors Other IDs Associated diseases
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Show/Hide Causal Diseases (4)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Global developmental delay Likely pathogenic; Pathogenic rs1554263624 RCV001255401
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
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
View all (12 more)
★★★★★
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Neurodevelopmental delay Likely pathogenic; Pathogenic rs1554263624 RCV002274050
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies Likely pathogenic rs1554263625 RCV003150251
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Show/Hide Unknown Diseases (21)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ALZHEIMER DISEASE — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BASAL CELL CARCINOMA — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CARCINOMA, HEPATOCELLULAR — CTD
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, DILATED — CTD, Disgenet
CTD, Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations