mutated Ligand Binding Site gene DataBase





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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 IRS1
Gene summary
Basic gene Info.Gene symbolIRS1
Gene nameinsulin receptor substrate 1
CytomapUCSC genome browser: 2q36
Type of geneprotein-coding
Modification date20141222
dbXrefs MIM : 147545
Ensembl : ENSG00000169047
HPRD : 00943
Vega : OTTHUMG00000133179
ProteinUniProt: P35568
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_IRS1
BioGPS: 3667
PathwayNCI Pathway Interaction Database: IRS1
Pathway Commons: IRS1
ContextiHOP: IRS1
ligand binding site mutation search in PubMed: IRS1
UCL Cancer Institute: IRS1
Assigned class in mutLBSgeneDBC: This gene just belongs to mutLBSgenes.

Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez
GO:0008286insulin receptor signaling pathway16516141
GO:0014065phosphatidylinositol 3-kinase signaling7782332
GO:0032868response to insulin16516141
GO:0046676negative regulation of insulin secretion15572028
GO:2001275positive regulation of glucose import in response to insulin stimulus7493946

Ligand binding site mutations for IRS1
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
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.

Protein structure related information for IRS1
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
(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 IRS1 from PDB

Differential gene expression and gene-gene network for IRS1
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 IRS1 and the right PPI network was created from samples without mutations in the LBS of IRS1. Only genes with p-value < 0.05 are shown.
Red circle: input gene. Orange circle: LBSgene. Blue circle: other gene.


Phenotype information for IRS1
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C0011860Diabetes Mellitus, Type 2112Biomarker, GeneticVariation
umls:C0028754Obesity34Biomarker, GeneticVariation
umls:C0011849Diabetes Mellitus20Biomarker, GeneticVariation
umls:C2239176Carcinoma, Hepatocellular13Biomarker
umls:C0021655Insulin Resistance10Biomarker, GeneticVariation
umls:C1956346Coronary Artery Disease9Biomarker, GeneticVariation
umls:C0020459Hyperinsulinism9Biomarker, GeneticVariation
umls:C0011853Diabetes Mellitus, Experimental3Biomarker, Therapeutic
umls:C0033578Prostatic Neoplasms3Biomarker, GeneticVariation
umls:C0007621Cell Transformation, Neoplastic1Biomarker
umls:C0032927Precancerous Conditions1Biomarker

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

Pharmacological information for IRS1
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

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of IRS1 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS
IIIPeptide ligand (LEU,VAL,ILE,ALA,GLY,ASN,PRO,ALA,TYR,ARG,SER)1irsAF222 W237 S261

Conservation information for LBS of IRS1
Multiple alignments for P35568 in multiple species
LBSAA sequence# speciesSpecies
C214MNIRRCGHSEN3Homo sapiens, Mus musculus, Rattus norvegicus
E218RCGHSENFFFI3Homo sapiens, Mus musculus, Rattus norvegicus
F222SENFFFIEVGR3Homo sapiens, Mus musculus, Rattus norvegicus
F264AMSDEFRPRSK2Homo sapiens, Mus musculus
F264AMSDEFRPRTK1Rattus norvegicus
G215NIRRCGHSENF3Homo sapiens, Mus musculus, Rattus norvegicus
H216IRRCGHSENFF3Homo sapiens, Mus musculus, Rattus norvegicus
I211LQLMNIRRCGH3Homo sapiens, Mus musculus, Rattus norvegicus
L208AVVLQLMNIRR3Homo sapiens, Mus musculus, Rattus norvegicus
M209VVLQLMNIRRC3Homo sapiens, Mus musculus, Rattus norvegicus
M257TILEAMRAMSD3Homo sapiens, Mus musculus, Rattus norvegicus
M260EAMRAMSDEFR3Homo sapiens, Mus musculus, Rattus norvegicus
N210VLQLMNIRRCG3Homo sapiens, Mus musculus, Rattus norvegicus
R212QLMNIRRCGHS3Homo sapiens, Mus musculus, Rattus norvegicus
R213LMNIRRCGHSE3Homo sapiens, Mus musculus, Rattus norvegicus
R227FIEVGRSAVTG3Homo sapiens, Mus musculus, Rattus norvegicus
R258ILEAMRAMSDE3Homo sapiens, Mus musculus, Rattus norvegicus
S217RRCGHSENFFF3Homo sapiens, Mus musculus, Rattus norvegicus
S261AMRAMSDEFRP3Homo sapiens, Mus musculus, Rattus norvegicus
W237GPGEFWMQVDD3Homo sapiens, Mus musculus, Rattus norvegicus

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