mutLBSgeneDB |
Gene summary for NR1I3 |
Gene summary |
Basic gene Info. | Gene symbol | NR1I3 |
Gene name | nuclear receptor subfamily 1, group I, member 3 | |
Synonyms | CAR|CAR1|MB67 | |
Cytomap | UCSC genome browser: 1q23.3 | |
Type of gene | protein-coding | |
RefGenes | NM_001077469.2, NM_001077470.2,NM_001077471.2,NM_001077472.2,NM_001077473.2, NM_001077474.2,NM_001077475.2,NM_001077476.2,NM_001077477.2, NM_001077478.2,NM_001077479.2,NM_001077480.2,NM_001077481.2, NM_001077482.2,NM_005122.4, | |
Description | constitutive activator of retinoid responseconstitutive active receptorconstitutive active responseconstitutive androstane nuclear receptor variant 2constitutive androstane nuclear receptor variant 3constitutive androstane nuclear receptor variant 4 | |
Modification date | 20141211 | |
dbXrefs | MIM : 603881 | |
HGNC : HGNC | ||
Ensembl : ENSG00000143257 | ||
HPRD : 04858 | ||
Vega : OTTHUMG00000034347 | ||
Protein | UniProt: Q14994 go to UniProt's Cross Reference DB Table | |
Expression | CleanEX: HS_NR1I3 | |
BioGPS: 9970 | ||
Pathway | NCI Pathway Interaction Database: NR1I3 | |
KEGG: NR1I3 | ||
REACTOME: NR1I3 | ||
Pathway Commons: NR1I3 | ||
Context | iHOP: NR1I3 | |
ligand binding site mutation search in PubMed: NR1I3 | ||
UCL Cancer Institute: NR1I3 | ||
Assigned class in mutLBSgeneDB | A: This gene has a literature evidence and it belongs to targetable_mutLBSgenes. | |
References showing study about ligand binding site mutation for NR1I3. | 1. Repo, S., Jyrkkärinne, J., Pulkkinen, J. T., Laatikainen, R., Honkakoski, P., & Johnson, M. S. (2008). Ligand specificity of constitutive androstane receptor as probed by induced-fit docking and mutagenesis. Journal of medicinal chemistry, 51(22), 7119-7131. 18973326 |
Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez |
GO ID | GO Term | PubMed ID | GO:0045944 | positive regulation of transcription from RNA polymerase II promoter | 11114890 |
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Ligand binding site mutations for NR1I3 |
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 |
LBS | AAchange of nsSNV | Cancer type | # samples | Y330 | Y332H | COAD | 1 | R183 | R183H | LUAD | 1 | L346 | M344K | LUAD | 1 | F161 | F161L | OV | 1 | V199 | E200K | SKCM | 1 | M168 | F167L | UCEC | 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 NR1I3 |
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. |
LBS | AAchange of nsSNV | Relative stability change | R183 | R183H | -0.74487642 | M168 | F167L | -0.6043584 | Y330 | Y332H | -0.57302627 | F161 | F161L | -0.56212116 | L346 | M344K | -0.28662641 | V199 | E200K | -0.2139385 |
(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 NR1I3 from PDB |
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Differential gene expression and gene-gene network for NR1I3 |
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 NR1I3 |
Gene level disease information (DisGeNet) |
Disease ID | Disease name | # PubMed | Association type |
umls:C0023903 | Liver Neoplasms | 6 | Biomarker |
umls:C0028754 | Obesity | 3 | Biomarker |
umls:C0019209 | Hepatomegaly | 2 | Biomarker |
umls:C0023904 | Liver Neoplasms, Experimental | 2 | Biomarker |
umls:C0011849 | Diabetes Mellitus | 1 | Biomarker |
umls:C0860207 | Drug-Induced Liver Injury | 1 | Therapeutic |
umls:C0524620 | Metabolic Syndrome X | 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 NR1I3 |
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 status | DrugBank ID | Name | Type | Drug structure |
Nutraceutical | DB01708 | Dehydroepiandrosterone | Small molecule | |
Experimental | DB01889 | 16,17-Androstene-3-Ol | Small molecule | |
Experimental | DB07557 | (5BETA)-PREGNANE-3,20-DIONE | Small molecule |
Gene-centered ligand-gene interaction network |
Ligands binding to mutated ligand binding site of NR1I3 go to BioLip |
Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | CID | 6-(4-CHLOROPHENYL)IMIDAZO[2,1-B][1,3]THIAZOLE-5-CARBALDEHYDE O-(3,4-DICHLOROBENZYL)OXIME | 1xvp | D | F161 M168 V199 | III | Peptide ligand (ARG,HIS,LYS,ILE,LEU,HIS,ARG,LEU,LEU,GLN,GLU,GLY) | 1xv9 | B | R183 | III | Peptide ligand (GLU,ARG,HIS,LYS,ILE,LEU,HIS,ARG,LEU,LEU,GLN,GLU) | 1xv9 | D | R183 | III | Peptide ligand (ARG,HIS,LYS,ILE,LEU,HIS,ARG,LEU,LEU,GLN,GLU,GLY) | 1xvp | B | R183 | III | Peptide ligand (GLU,ARG,HIS,LYS,ILE,LEU,HIS,ARG,LEU,LEU,GLN,GLU) | 1xvp | D | R183 |
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Conservation information for LBS of NR1I3 |
Multiple alignments for Q14994 in multiple species |
LBS | AA sequence | # species | Species | D228 | CYKMEDAVH-- | 2 | Mus musculus, Rattus norvegicus | D228 | RYTIEDGARVS | 1 | Homo sapiens | D228 | RYTIEDAARVS | 1 | Macaca mulatta | D228 | RYTIEDGAR-- | 1 | Pan troglodytes | E349 | MPLLQEICS | 3 | Homo sapiens, Macaca mulatta, Pan troglodytes | E349 | TPLLGEICS | 1 | Mus musculus | E349 | MPLLGEICS | 1 | Rattus norvegicus | F161 | PLVTHFADINT | 2 | Homo sapiens, Pan troglodytes | F161 | PLLTHFADINT | 2 | Mus musculus, Rattus norvegicus | F161 | PLVTHFADVNT | 1 | Macaca mulatta | F247 | FLELLFHFHGT | 3 | Homo sapiens, Macaca mulatta, Pan troglodytes | F247 | FLESILHFHKN | 1 | Mus musculus | F247 | FLELIIHFHKT | 1 | Rattus norvegicus | H203 | AVEICHIVLNT | 3 | Homo sapiens, Macaca mulatta, Pan troglodytes | H203 | AVEILHISLNT | 2 | Mus musculus, Rattus norvegicus | I164 | THFADINTFMV | 4 | Homo sapiens, Pan troglodytes, Mus musculus, Rattus norvegicus | I164 | THFADVNTFMV | 1 | Macaca mulatta | I173 | MVLQVIKFTKD | 2 | Homo sapiens, Pan troglodytes | I173 | MVQQIIKFTKD | 2 | Mus musculus, Rattus norvegicus | I173 | MVQQVIKFTKD | 1 | Macaca mulatta | I187 | FRSLPIEDQIS | 3 | Homo sapiens, Macaca mulatta, Pan troglodytes | I187 | FRSLTMEDQIS | 2 | Mus musculus, Rattus norvegicus | I191 | PIEDQISLLKG | 3 | Homo sapiens, Macaca mulatta, Pan troglodytes | I191 | TMEDQISLLKG | 2 | Mus musculus, Rattus norvegicus | I350 | PLLQEICS | 3 | Homo sapiens, Macaca mulatta, Pan troglodytes | I350 | PLLGEICS | 2 | Mus musculus, Rattus norvegicus | K177 | VIKFTKDLPVF | 3 | Homo sapiens, Macaca mulatta, Pan troglodytes | K177 | IIKFTKDLPLF | 2 | Mus musculus, Rattus norvegicus | K195 | QISLLKGAAVE | 5 | Homo sapiens, Macaca mulatta, Pan troglodytes, Mus musculus, Rattus norvegicus | L170 | NTFMVLQVIKF | 2 | Homo sapiens, Pan troglodytes | L170 | NTFMVQQIIKF | 2 | Mus musculus, Rattus norvegicus | L170 | NTFMVQQVIKF | 1 | Macaca mulatta | L194 | DQISLLKGAAV | 5 | Homo sapiens, Macaca mulatta, Pan troglodytes, Mus musculus, Rattus norvegicus | L206 | ICHIVLNTTFC | 3 | Homo sapiens, Macaca mulatta, Pan troglodytes | L206 | ILHISLNTTFC | 2 | Mus musculus, Rattus norvegicus | L243 | FQVEFLELLFH | 3 | Homo sapiens, Macaca mulatta, Pan troglodytes | L243 | FQYEFLESILH | 1 | Mus musculus | L243 | FQYEFLELIIH | 1 | Rattus norvegicus | L246 | EFLELLFHFHG | 3 | Homo sapiens, Macaca mulatta, Pan troglodytes | L246 | EFLESILHFHK | 1 | Mus musculus | L246 | EFLELIIHFHK | 1 | Rattus norvegicus | L346 | SAMMPLLQEIC | 3 | Homo sapiens, Macaca mulatta, Pan troglodytes | L346 | SAMTPLLGEIC | 1 | Mus musculus | L346 | SAMMPLLGEIC | 1 | Rattus norvegicus | M168 | DINTFMVLQVI | 2 | Homo sapiens, Pan troglodytes | M168 | DINTFMVQQII | 2 | Mus musculus, Rattus norvegicus | M168 | DVNTFMVQQVI | 1 | Macaca mulatta | N165 | HFADINTFMVL | 2 | Homo sapiens, Pan troglodytes | N165 | HFADINTFMVQ | 2 | Mus musculus, Rattus norvegicus | N165 | HFADVNTFMVQ | 1 | Macaca mulatta | Q190 | LPIEDQISLLK | 3 | Homo sapiens, Macaca mulatta, Pan troglodytes | Q190 | LTMEDQISLLK | 2 | Mus musculus, Rattus norvegicus | R183 | DLPVFRSLPIE | 3 | Homo sapiens, Macaca mulatta, Pan troglodytes | R183 | DLPLFRSLTME | 2 | Mus musculus, Rattus norvegicus | S3 | ---MASREDEL | 3 | Homo sapiens, Macaca mulatta, Pan troglodytes | S3 | TLETMASEEEY | 1 | Mus musculus | S3 | TLETMTSEEEY | 1 | Rattus norvegicus | T225 | GPLRYTIEDGA | 2 | Homo sapiens, Pan troglodytes | T225 | GPLCYKMEDAV | 2 | Mus musculus, Rattus norvegicus | T225 | GPLRYTIEDAA | 1 | Macaca mulatta | V199 | LKGAAVEICHI | 3 | Homo sapiens, Macaca mulatta, Pan troglodytes | V199 | LKGAAVEILHI | 2 | Mus musculus, Rattus norvegicus | Y224 | CGPLRYTIEDG | 2 | Homo sapiens, Pan troglodytes | Y224 | CGPLCYKMEDA | 2 | Mus musculus, Rattus norvegicus | Y224 | CGPLRYTIEDA | 1 | Macaca mulatta | Y330 | SINEAYGYQIQ | 3 | Homo sapiens, Macaca mulatta, Pan troglodytes | Y330 | SINNAYSYELQ | 1 | Mus musculus | Y330 | SINSAYSYEIH | 1 | Rattus norvegicus |
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