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mutLBSgeneDB |
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| Gene summary for IRS1 |
 Gene summary |
| Basic gene Info. | Gene symbol | IRS1 |
| Gene name | insulin receptor substrate 1 | |
| Synonyms | HIRS-1 | |
| Cytomap | UCSC genome browser: 2q36 | |
| Type of gene | protein-coding | |
| RefGenes | NM_005544.2, | |
| Description | IRS-1 | |
| Modification date | 20141222 | |
| dbXrefs | MIM : 147545 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000169047 | ||
| HPRD : 00943 | ||
| Vega : OTTHUMG00000133179 | ||
| Protein | UniProt: P35568 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_IRS1 | |
| BioGPS: 3667 | ||
| Pathway | NCI Pathway Interaction Database: IRS1 | |
| KEGG: IRS1 | ||
| REACTOME: IRS1 | ||
| Pathway Commons: IRS1 | ||
| Context | iHOP: IRS1 | |
| ligand binding site mutation search in PubMed: IRS1 | ||
| UCL Cancer Institute: IRS1 | ||
| Assigned class in mutLBSgeneDB | C: This gene just belongs to mutLBSgenes. | |
| Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez |
| GO ID | GO Term | PubMed ID | GO:0008286 | insulin receptor signaling pathway | 16516141 | GO:0014065 | phosphatidylinositol 3-kinase signaling | 7782332 | GO:0032868 | response to insulin | 16516141 | GO:0046676 | negative regulation of insulin secretion | 15572028 | GO:2001275 | positive regulation of glucose import in response to insulin stimulus | 7493946 |
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| 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. |
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| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | F222 | E224K | BLCA | 1 | S261 | S261I | LUSC | 1 | S261 | D262E | STAD | 1 | W237 | Q239K | STAD | 1 |
| 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. |
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| 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 |
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| 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. |
| LBS | AAchange of nsSNV | Relative stability change | S261 | S261I | 0.079669964 | F222 | E224K | -1.2239216 | W237 | Q239K | -0.81969767 | S261 | D262E | -0.044666676 |
| (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 |
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| 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) |
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| Phenotype information for IRS1 |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0011860 | Diabetes Mellitus, Type 2 | 112 | Biomarker, GeneticVariation |
| umls:C0028754 | Obesity | 34 | Biomarker, GeneticVariation |
| umls:C0011849 | Diabetes Mellitus | 20 | Biomarker, GeneticVariation |
| umls:C2239176 | Carcinoma, Hepatocellular | 13 | Biomarker |
| umls:C0021655 | Insulin Resistance | 10 | Biomarker, GeneticVariation |
| umls:C1956346 | Coronary Artery Disease | 9 | Biomarker, GeneticVariation |
| umls:C0020459 | Hyperinsulinism | 9 | Biomarker, GeneticVariation |
| umls:C0011853 | Diabetes Mellitus, Experimental | 3 | Biomarker, Therapeutic |
| umls:C0033578 | Prostatic Neoplasms | 3 | Biomarker, GeneticVariation |
| umls:C0007621 | Cell Transformation, Neoplastic | 1 | Biomarker |
| umls:C0020473 | Hyperlipidemias | 1 | Biomarker |
| umls:C0032927 | Precancerous Conditions | 1 | Biomarker |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| 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. |
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| Gene-centered drug-gene interaction network |
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| Drug information targeting mutLBSgene (Approved drugs only) |
| Drug status | DrugBank ID | Name | Type | Drug structure |
| Experimental | DB08513 | [4-({5-(AMINOCARBONYL)-4-[(3-METHYLPHENYL)AMINO]PYRIMIDIN-2-YL}AMINO)PHENYL]ACETIC ACID | Small molecule |  |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of IRS1 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | III | Peptide ligand (LEU,VAL,ILE,ALA,GLY,ASN,PRO,ALA,TYR,ARG,SER) | 1irs | A | F222 W237 S261 |
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| Conservation information for LBS of IRS1 |
| Multiple alignments for P35568 in multiple species |
| LBS | AA sequence | # species | Species | C214 | MNIRRCGHSEN | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | E218 | RCGHSENFFFI | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | F222 | SENFFFIEVGR | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | F264 | AMSDEFRPRSK | 2 | Homo sapiens, Mus musculus | F264 | AMSDEFRPRTK | 1 | Rattus norvegicus | G215 | NIRRCGHSENF | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | H216 | IRRCGHSENFF | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | I211 | LQLMNIRRCGH | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | L208 | AVVLQLMNIRR | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | M209 | VVLQLMNIRRC | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | M257 | TILEAMRAMSD | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | M260 | EAMRAMSDEFR | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | N210 | VLQLMNIRRCG | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | R212 | QLMNIRRCGHS | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | R213 | LMNIRRCGHSE | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | R227 | FIEVGRSAVTG | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | R258 | ILEAMRAMSDE | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | S217 | RRCGHSENFFF | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | S261 | AMRAMSDEFRP | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | W237 | GPGEFWMQVDD | 3 | Homo sapiens, Mus musculus, Rattus norvegicus |
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