mutLBSgeneDB

mutLBSgeneDB
mutated Ligand Binding Site gene DataBase

Home

Download

 Statistics

Help

About Us

Bioinformatics and Systems Medicine Laboratory Bioinformatics and Systems Medicine Laboratory

Gene Summary

Ligand Binding Site Mutation Information

Protein Structure Related Information

Gene Expression and Gene-Gene Network

Phenotype Information

Pharmacological Information

Conservation Information for LBS

Gene summary for RAC1
Gene summary
Basic gene Info.Gene symbolRAC1
Gene nameras-related C3 botulinum toxin substrate 1 (rho family, small GTP binding protein Rac1)
SynonymsRac-1|TC-25|p21-Rac1
CytomapUCSC genome browser: 7p22
Type of geneprotein-coding
RefGenesNM_006908.4,
NM_018890.3,NM_198829.1,
Descriptioncell migration-inducing gene 5 proteinras-like protein TC25ras-related C3 botulinum toxin substrate 1
Modification date20141222
dbXrefs MIM : 602048
HGNC : HGNC
Ensembl : ENSG00000136238
HPRD : 03627
Vega : OTTHUMG00000023540
ProteinUniProt: P63000
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_RAC1
BioGPS: 5879
PathwayNCI Pathway Interaction Database: RAC1
KEGG: RAC1
REACTOME: RAC1
Pathway Commons: RAC1
ContextiHOP: RAC1
ligand binding site mutation search in PubMed: RAC1
UCL Cancer Institute: RAC1
Assigned class in mutLBSgeneDBC: This gene just belongs to mutLBSgenes.

Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez
GO IDGO TermPubMed ID
GO:0010592positive regulation of lamellipodium assembly15467718
GO:0031529ruffle organization15467718
GO:0032707negative regulation of interleukin-23 production16982892
GO:0048870cell motility19403692
GO:0051496positive regulation of stress fiber assembly23129259
GO:0051894positive regulation of focal adhesion assembly23129259
GO:0060263regulation of respiratory burst16636067
GO:1900026positive regulation of substrate adhesion-dependent cell spreading23129259


Top
Ligand binding site mutations for RAC1
Lollipop-style diagram of mutations at LBS in amino-acid sequence.
We represented ligand binding site mutations only. (You can see big image via clicking.)
 
: non-synonymous mutation on LBS, Circle size denotes number of samples.

Cancer type specific mutLBS sorted by frequency
LBSAAchange of nsSNVCancer type# samples
F28,G30P29SSKCM8
F28,G30P29LSKCM3
A159A159VHNSC2
A159A159VCOAD1
K116K116NHNSC1
G15G15SHNSC1
C18C18FHNSC1
K116K116RHNSC1
F28,G30P29THNSC1
C18C18YHNSC1
Q61Q61RPRAD1
V14V14ESKCM1
P34P34SSKCM1
A159A159VUCEC1
F28,G30P29SUCEC1
cf) Cancer type abbreviation. BLCA: Bladder urothelial carcinoma, BRCA: Breast invasive carcinoma, CESC: Cervical squamous cell carcinoma and endocervical adenocarcinoma, COAD: Colon adenocarcinoma, GBM: Glioblastoma multiforme, LGG: Brain lower grade glioma, HNSC: Head and neck squamous cell carcinoma, KICH: Kidney chromophobe, KIRC: Kidney renal clear cell carcinoma, KIRP: Kidney renal papillary cell carcinoma, LAML: Acute myeloid leukemia, LUAD: Lung adenocarcinoma, LUSC: Lung squamous cell carcinoma, OV: Ovarian serous cystadenocarcinoma, PAAD: Pancreatic adenocarcinoma, PRAD: Prostate adenocarcinoma, SKCM: Skin cutaneous melanoma, STAD: Stomach adenocarcinoma, THCA: Thyroid carcinoma, UCEC: Uterine corpus endometrial carcinoma.

Clinical information for RAC1 from My Cancer Genome.
Ras-related C3 botulinum toxin substrate 1 (RAC1) is a small GTP binding gene of the Rho family that encodes a GTPase/small GTP-binding protein of the RAS superfamily. Frameshift mutations, missense mutations, and silent mutations are observed in cancers such as breast cancer and skin cancer. Modified: July 1, 2015

Top
Protein structure related information for RAC1
Relative protein structure stability change (ΔΔE) using Mupro 1.1
Mupro score denotes assessment of the effect of mutations on thermodynamic stability.
  (ΔΔE<0: mutation decreases stability, ΔΔE>0: mutation increases stability)
: nsSNV at non-LBS: nsSNV at LBS

nsSNVs sorted by the relative stability change of protein structure by each mutation
Blue: mutations of positive stability change. and red : the most recurrent mutation for this gene.
LBSAAchange of nsSNVRelative stability change
K116K116R0.036603263
P34P34S-1.0923191
G30P29S-0.73068092
F28P29S-0.73068092
V14V14E-0.65174201
G30P29T-0.64923412
F28P29T-0.64923412
C18C18F-0.57098507
C18C18Y-0.56921971
A159A159V-0.32781067
K116K116N-0.30736959
G15G15S-0.25560921
Q61Q61R-0.13706426
G30P29L-0.12710316
F28P29L-0.12710316
(MuPro1.1: Jianlin Cheng et al., Prediction of Protein Stability Changes for Single-Site Mutations Using Support Vector Machines, PROTEINS: Structure, Function, and Bioinformatics. 2006, 62:1125-1132)

Structure image for RAC1 from PDB
PDB IDPDB titlePDB structure
1E96STRUCTURE OF THE RAC/P67PHOX COMPLEX

Top
Differential gene expression and gene-gene network for RAC1
Differential gene expression between mutated and non-mutated LBS samples in all 16 major cancer types

Differential co-expressed gene network based on protein-protein interaction data (CePIN)
* Left PPI network was created from samples with mutations in the LBS of RAC1 and the right PPI network was created from samples without mutations in the LBS of RAC1. Only genes with p-value < 0.05 are shown.
Red circle: input gene. Orange circle: LBSgene. Blue circle: other gene.


Top

Top
Phenotype information for RAC1
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C0027627Neoplasm Metastasis22AlteredExpression, Biomarker
umls:C0025202Melanoma9AlteredExpression, Biomarker, GeneticVariation
umls:C2239176Carcinoma, Hepatocellular5AlteredExpression, Biomarker
umls:C0018801Heart Failure2Biomarker
umls:C0007193Cardiomyopathy, Dilated1Biomarker
umls:C0007621Cell Transformation, Neoplastic1Biomarker
umls:C0023895Liver Diseases1Biomarker

Mutation level pathogenic information (ClinVar annotation)
Allele IDAA changeClinical significanceOriginPhenotype IDs

Top
Pharmacological information for RAC1
Gene expression profile of anticancer drug treated cell-lines (CCLE)
Heatmap showing the correlation between gene expression and drug response across all the cell-lines. We chose the top 20 among 138 drugs.We used Pearson's correlation coefficient.

Gene-centered drug-gene interaction network
Drug information targeting mutLBSgene (Approved drugs only)
Drug statusDrugBank IDNameTypeDrug structure
ExperimentalDB04315Guanosine-5'-DiphosphateSmall molecule

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of RAC1 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS
GDPGUANOSINE-5'-DIPHOSPHATE1i4dDG15 C18 F28 K116 A159
GNPPHOSPHOAMINOPHOSPHONIC ACID-GUANYLATE ESTER4gzlBG15 C18 F28 P34 K116 A159
AF3ALUMINIUM TRIFLUORIDE1g4uRQ61
AF3ALUMINIUM TRIFLUORIDE1he1CQ61
AF3ALUMINIUM TRIFLUORIDE1he1DQ61
GDPGUANOSINE-5'-DIPHOSPHATE1ryfAV14 G15 C18 F28
GDPGUANOSINE-5'-DIPHOSPHATE1ryfBV14 G15 C18 F28
GNPPHOSPHOAMINOPHOSPHONIC ACID-GUANYLATE ESTER1ryhAV14 G15 C18 F28
GNPPHOSPHOAMINOPHOSPHONIC ACID-GUANYLATE ESTER1ryhBV14 G15 C18 F28
GNPPHOSPHOAMINOPHOSPHONIC ACID-GUANYLATE ESTER3sbdAV14 G15 C18 F28 G30 K116 A159
GNPPHOSPHOAMINOPHOSPHONIC ACID-GUANYLATE ESTER3sbdBV14 G15 C18 F28 G30 K116 A159
GNPPHOSPHOAMINOPHOSPHONIC ACID-GUANYLATE ESTER3sbeAV14 G15 C18 F28 G30 K116 A159
GTPGTP1e96AV14 G15 C18 F28 G30 P34 K116 A159
GNPPHOSPHOAMINOPHOSPHONIC ACID-GUANYLATE ESTER3rytCV14 G15 C18 F28 G30 P34 K116 A159
GNPPHOSPHOAMINOPHOSPHONIC ACID-GUANYLATE ESTER3su8AV14 G15 C18 F28 G30 P34 Q61 K116 A159
GDPGUANOSINE-5'-DIPHOSPHATE1he1CV14 G15 C18 F28 K116 A159
GDPGUANOSINE-5'-DIPHOSPHATE1he1DV14 G15 C18 F28 K116 A159
GDPGUANOSINE-5'-DIPHOSPHATE1hh4AV14 G15 C18 F28 K116 A159
GDPGUANOSINE-5'-DIPHOSPHATE1hh4BV14 G15 C18 F28 K116 A159
GDPGUANOSINE-5'-DIPHOSPHATE1i4lDV14 G15 C18 F28 K116 A159
GNPPHOSPHOAMINOPHOSPHONIC ACID-GUANYLATE ESTER1i4tDV14 G15 C18 F28 K116 A159
GDPGUANOSINE-5'-DIPHOSPHATE2h7vAV14 G15 C18 F28 K116 A159
GDPGUANOSINE-5'-DIPHOSPHATE2h7vBV14 G15 C18 F28 K116 A159
GDPGUANOSINE-5'-DIPHOSPHATE2p2lAV14 G15 C18 F28 K116 A159
GDPGUANOSINE-5'-DIPHOSPHATE2p2lBV14 G15 C18 F28 K116 A159
GDPGUANOSINE-5'-DIPHOSPHATE2p2lCV14 G15 C18 F28 K116 A159
GNPPHOSPHOAMINOPHOSPHONIC ACID-GUANYLATE ESTER3th5AV14 G15 C18 F28 K116 A159
GNPPHOSPHOAMINOPHOSPHONIC ACID-GUANYLATE ESTER3th5BV14 G15 C18 F28 K116 A159
GNPPHOSPHOAMINOPHOSPHONIC ACID-GUANYLATE ESTER1mh1AV14 G15 C18 F28 P34 K116 A159
GSPGUANOSINE 5'-[GAMMA-THIO]TRIPHOSPHATE2fjuAV14 G15 C18 F28 P34 K116 A159
GNPPHOSPHOAMINOPHOSPHONIC ACID-GUANYLATE ESTER4gzlAV14 G15 C18 F28 P34 K116 A159
GNPPHOSPHOAMINOPHOSPHONIC ACID-GUANYLATE ESTER3suaAV14 G15 C18 F28 P34 Q61 K116 A159
GNPPHOSPHOAMINOPHOSPHONIC ACID-GUANYLATE ESTER3suaBV14 G15 C18 F28 P34 Q61 K116 A159
GNPPHOSPHOAMINOPHOSPHONIC ACID-GUANYLATE ESTER3suaCV14 G15 C18 F28 P34 Q61 K116 A159
GDPGUANOSINE-5'-DIPHOSPHATE1g4uRV14 G15 C18 K116 A159
GSPGUANOSINE 5'-[GAMMA-THIO]TRIPHOSPHATE4gzmBV14 G15 C18 P34 A159
GSPGUANOSINE 5'-[GAMMA-THIO]TRIPHOSPHATE4gzmAV14 G15 C18 P34 K116 A159


Top
Conservation information for LBS of RAC1
Multiple alignments for P63000 in multiple species
LBSAA sequence# speciesSpecies
A13VVGDGAVGKTC7Homo sapiens, Canis lupus familiaris, Bos taurus, Mus musculus, Rattus norvegicus, Drosophila melanogaster, Drosophila melanogaster
A13TVGDGAVGKTC4Oryza sativa subsp. japonica, Arabidopsis thaliana, Arabidopsis thaliana, Arabidopsis thaliana
A159YLECSALTQRG5Homo sapiens, Canis lupus familiaris, Bos taurus, Mus musculus, Rattus norvegicus
A159YLECSALTQKG2Drosophila melanogaster, Drosophila melanogaster
A159YIECSSKTQEN2Arabidopsis thaliana, Arabidopsis thaliana
A159YIECSSKTQLN1Oryza sativa subsp. japonica
A159YIECSSKSQEN1Arabidopsis thaliana
C18AVGKTCLLISY10Homo sapiens, Canis lupus familiaris, Bos taurus, Mus musculus, Rattus norvegicus, Drosophila melanogaster, Drosophila melanogaster, Arabidopsis thaliana, Arabidopsis thaliana, Arabidopsis thaliana
C18AVGKTCMLISY1Oryza sativa subsp. japonica
C6MQAIKCVVVGD7Homo sapiens, Canis lupus familiaris, Bos taurus, Mus musculus, Rattus norvegicus, Drosophila melanogaster, Drosophila melanogaster
C6SRFIKCVTVGD3Oryza sativa subsp. japonica, Arabidopsis thaliana, Arabidopsis thaliana
C6SRFVKCVTVGD1Arabidopsis thaliana
D11CVVVGDGAVGK7Homo sapiens, Canis lupus familiaris, Bos taurus, Mus musculus, Rattus norvegicus, Drosophila melanogaster, Drosophila melanogaster
D11CVTVGDGAVGK4Oryza sativa subsp. japonica, Arabidopsis thaliana, Arabidopsis thaliana, Arabidopsis thaliana
D118VGTKLDLRDDK11Homo sapiens, Canis lupus familiaris, Bos taurus, Mus musculus, Rattus norvegicus, Drosophila melanogaster, Drosophila melanogaster, Oryza sativa subsp. japonica, Arabidopsis thaliana, Arabidopsis thaliana, Arabidopsis thaliana
D57NLGLWDTAGQE11Homo sapiens, Canis lupus familiaris, Bos taurus, Mus musculus, Rattus norvegicus, Drosophila melanogaster, Drosophila melanogaster, Oryza sativa subsp. japonica, Arabidopsis thaliana, Arabidopsis thaliana, Arabidopsis thaliana
D63TAGQEDYDRLR7Homo sapiens, Canis lupus familiaris, Bos taurus, Mus musculus, Rattus norvegicus, Drosophila melanogaster, Drosophila melanogaster
D63TAGQEDYNRLR4Oryza sativa subsp. japonica, Arabidopsis thaliana, Arabidopsis thaliana, Arabidopsis thaliana
E100AKWYPEVRHHC6Homo sapiens, Canis lupus familiaris, Bos taurus, Mus musculus, Rattus norvegicus, Drosophila melanogaster
E100KKWIPELKHYA4Oryza sativa subsp. japonica, Arabidopsis thaliana, Arabidopsis thaliana, Arabidopsis thaliana
E100AKWFPEVRHHC1Drosophila melanogaster
E127DKDTIEKLKEK5Homo sapiens, Canis lupus familiaris, Bos taurus, Mus musculus, Rattus norvegicus
E127DKQFF--IDHP3Arabidopsis thaliana, Arabidopsis thaliana, Arabidopsis thaliana
E127DKNTIEKLRDK1Drosophila melanogaster
E127DKQTIEKLKDK1Drosophila melanogaster
E127DKQFF--VDHP1Oryza sativa subsp. japonica
E131IEKLKEKKLTP5Homo sapiens, Canis lupus familiaris, Bos taurus, Mus musculus, Rattus norvegicus
E131F--IDHPGAVP3Arabidopsis thaliana, Arabidopsis thaliana, Arabidopsis thaliana
E131IEKLRDKKLAP1Drosophila melanogaster
E131IEKLKDKKLTP1Drosophila melanogaster
E131F--VDHPGAVP1Oryza sativa subsp. japonica
E31NAFPGEYIPTV7Homo sapiens, Canis lupus familiaris, Bos taurus, Mus musculus, Rattus norvegicus, Drosophila melanogaster, Drosophila melanogaster
E31NTFPTDYVPTV4Oryza sativa subsp. japonica, Arabidopsis thaliana, Arabidopsis thaliana, Arabidopsis thaliana
F28YTTNAFPGEYI7Homo sapiens, Canis lupus familiaris, Bos taurus, Mus musculus, Rattus norvegicus, Drosophila melanogaster, Drosophila melanogaster
F28YTSNTFPTDYV4Oryza sativa subsp. japonica, Arabidopsis thaliana, Arabidopsis thaliana, Arabidopsis thaliana
G12VVVGDGAVGKT7Homo sapiens, Canis lupus familiaris, Bos taurus, Mus musculus, Rattus norvegicus, Drosophila melanogaster, Drosophila melanogaster
G12VTVGDGAVGKT4Oryza sativa subsp. japonica, Arabidopsis thaliana, Arabidopsis thaliana, Arabidopsis thaliana
G15GDGAVGKTCLL10Homo sapiens, Canis lupus familiaris, Bos taurus, Mus musculus, Rattus norvegicus, Drosophila melanogaster, Drosophila melanogaster, Arabidopsis thaliana, Arabidopsis thaliana, Arabidopsis thaliana
G15GDGAVGKTCML1Oryza sativa subsp. japonica
G30TNAFPGEYIPT7Homo sapiens, Canis lupus familiaris, Bos taurus, Mus musculus, Rattus norvegicus, Drosophila melanogaster, Drosophila melanogaster
G30SNTFPTDYVPT4Oryza sativa subsp. japonica, Arabidopsis thaliana, Arabidopsis thaliana, Arabidopsis thaliana
G60LWDTAGQEDYD7Homo sapiens, Canis lupus familiaris, Bos taurus, Mus musculus, Rattus norvegicus, Drosophila melanogaster, Drosophila melanogaster
G60LWDTAGQEDYN4Oryza sativa subsp. japonica, Arabidopsis thaliana, Arabidopsis thaliana, Arabidopsis thaliana
H104PEVRHHCPNTP5Homo sapiens, Canis lupus familiaris, Bos taurus, Mus musculus, Rattus norvegicus
H104PELKHYAPGVP4Oryza sativa subsp. japonica, Arabidopsis thaliana, Arabidopsis thaliana, Arabidopsis thaliana
H104PEVRHHCPSTP1Drosophila melanogaster
H104PEVRHHCPSVP1Drosophila melanogaster
I33FPGEYIPTVFD7Homo sapiens, Canis lupus familiaris, Bos taurus, Mus musculus, Rattus norvegicus, Drosophila melanogaster, Drosophila melanogaster
I33FPTDYVPTVFD4Oryza sativa subsp. japonica, Arabidopsis thaliana, Arabidopsis thaliana, Arabidopsis thaliana
K116ILVGTKLDLRD8Homo sapiens, Canis lupus familiaris, Bos taurus, Mus musculus, Rattus norvegicus, Drosophila melanogaster, Drosophila melanogaster, Oryza sativa subsp. japonica
K116VLVGTKLDLRD3Arabidopsis thaliana, Arabidopsis thaliana, Arabidopsis thaliana
K16DGAVGKTCLLI10Homo sapiens, Canis lupus familiaris, Bos taurus, Mus musculus, Rattus norvegicus, Drosophila melanogaster, Drosophila melanogaster, Arabidopsis thaliana, Arabidopsis thaliana, Arabidopsis thaliana
K16DGAVGKTCMLI1Oryza sativa subsp. japonica
K5-MQAIKCVVVG7Homo sapiens, Canis lupus familiaris, Bos taurus, Mus musculus, Rattus norvegicus, Drosophila melanogaster, Drosophila melanogaster
K5ASRFIKCVTVG3Oryza sativa subsp. japonica, Arabidopsis thaliana, Arabidopsis thaliana
K5ASRFVKCVTVG1Arabidopsis thaliana
L119GTKLDLRDDKD5Homo sapiens, Canis lupus familiaris, Bos taurus, Mus musculus, Rattus norvegicus
L119GTKLDLRDDKQ5Drosophila melanogaster, Oryza sativa subsp. japonica, Arabidopsis thaliana, Arabidopsis thaliana, Arabidopsis thaliana
L119GTKLDLRDDKN1Drosophila melanogaster
L160LECSALTQRGL5Homo sapiens, Canis lupus familiaris, Bos taurus, Mus musculus, Rattus norvegicus
L160LECSALTQKGL2Drosophila melanogaster, Drosophila melanogaster
L160IECSSKTQENV2Arabidopsis thaliana, Arabidopsis thaliana
L160IECSSKTQLNV1Oryza sativa subsp. japonica
L160IECSSKSQENV1Arabidopsis thaliana
P34PGEYIPTVFDN7Homo sapiens, Canis lupus familiaris, Bos taurus, Mus musculus, Rattus norvegicus, Drosophila melanogaster, Drosophila melanogaster
P34PTDYVPTVFDN4Oryza sativa subsp. japonica, Arabidopsis thaliana, Arabidopsis thaliana, Arabidopsis thaliana
Q61WDTAGQEDYDR7Homo sapiens, Canis lupus familiaris, Bos taurus, Mus musculus, Rattus norvegicus, Drosophila melanogaster, Drosophila melanogaster
Q61WDTAGQEDYNR4Oryza sativa subsp. japonica, Arabidopsis thaliana, Arabidopsis thaliana, Arabidopsis thaliana
R187VKKRKRK----5Homo sapiens, Canis lupus familiaris, Bos taurus, Mus musculus, Rattus norvegicus
R187QKKKKSKAQKA2Arabidopsis thaliana, Arabidopsis thaliana
R187QPKSKRK----1Drosophila melanogaster
R187RGPKRHK----1Drosophila melanogaster
R187AKKKKKAQRGA1Oryza sativa subsp. japonica
R187QKKKKNKAQKA1Arabidopsis thaliana
S158KYLECSALTQR5Homo sapiens, Canis lupus familiaris, Bos taurus, Mus musculus, Rattus norvegicus
S158KYLECSALTQK2Drosophila melanogaster, Drosophila melanogaster
S158YYIECSSKTQL1Oryza sativa subsp. japonica
S158TYIECSSKTQE1Arabidopsis thaliana
S158AYIECSSKSQE1Arabidopsis thaliana
S158AYIECSSKTQE1Arabidopsis thaliana
T17GAVGKTCLLIS10Homo sapiens, Canis lupus familiaris, Bos taurus, Mus musculus, Rattus norvegicus, Drosophila melanogaster, Drosophila melanogaster, Arabidopsis thaliana, Arabidopsis thaliana, Arabidopsis thaliana
T17GAVGKTCMLIS1Oryza sativa subsp. japonica
T35GEYIPTVFDNY7Homo sapiens, Canis lupus familiaris, Bos taurus, Mus musculus, Rattus norvegicus, Drosophila melanogaster, Drosophila melanogaster
T35TDYVPTVFDNF4Oryza sativa subsp. japonica, Arabidopsis thaliana, Arabidopsis thaliana, Arabidopsis thaliana
T58LGLWDTAGQED11Homo sapiens, Canis lupus familiaris, Bos taurus, Mus musculus, Rattus norvegicus, Drosophila melanogaster, Drosophila melanogaster, Oryza sativa subsp. japonica, Arabidopsis thaliana, Arabidopsis thaliana, Arabidopsis thaliana
V14VGDGAVGKTCL10Homo sapiens, Canis lupus familiaris, Bos taurus, Mus musculus, Rattus norvegicus, Drosophila melanogaster, Drosophila melanogaster, Arabidopsis thaliana, Arabidopsis thaliana, Arabidopsis thaliana
V14VGDGAVGKTCM1Oryza sativa subsp. japonica
Y32AFPGEYIPTVF7Homo sapiens, Canis lupus familiaris, Bos taurus, Mus musculus, Rattus norvegicus, Drosophila melanogaster, Drosophila melanogaster
Y32TFPTDYVPTVF4Oryza sativa subsp. japonica, Arabidopsis thaliana, Arabidopsis thaliana, Arabidopsis thaliana


Copyright © 2016-Present - The University of Texas Health Science Center at Houston
Site Policies | State of Texas