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mutLBSgeneDB |
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| Gene summary for NR1D1 |
 Gene summary |
| Basic gene Info. | Gene symbol | NR1D1 |
| Gene name | nuclear receptor subfamily 1, group D, member 1 | |
| Synonyms | EAR1|THRA1|THRAL|ear-1|hRev | |
| Cytomap | UCSC genome browser: 17q11.2 | |
| Type of gene | protein-coding | |
| RefGenes | NM_021724.4, | |
| Description | Rev-ErbAalphaV-erbA-related protein 1nuclear receptor Rev-ErbA-alphanuclear receptor subfamily 1 group D member 1rev-erbA-alpha | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 602408 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000126368 | ||
| HPRD : 03873 | ||
| Vega : OTTHUMG00000133327 | ||
| Protein | UniProt: P20393 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_NR1D1 | |
| BioGPS: 9572 | ||
| Pathway | NCI Pathway Interaction Database: NR1D1 | |
| KEGG: NR1D1 | ||
| REACTOME: NR1D1 | ||
| Pathway Commons: NR1D1 | ||
| Context | iHOP: NR1D1 | |
| ligand binding site mutation search in PubMed: NR1D1 | ||
| UCL Cancer Institute: NR1D1 | ||
| Assigned class in mutLBSgeneDB | B: This gene belongs to targetable_mutLBSgenes. | |
| Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez |
| GO ID | GO Term | PubMed ID | GO:0000122 | negative regulation of transcription from RNA polymerase II promoter | 8622974 | GO:0045892 | negative regulation of transcription, DNA-templated | 15761026 | GO:2000189 | positive regulation of cholesterol homeostasis | 18511497 |
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| Ligand binding site mutations for NR1D1 |
| 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 | R204 | R204H | BRCA | 1 | T476 | T476A | COAD | 1 | R157 | R157C | COAD | 1 | C149 | A148T | COAD | 1 | R448 | R448L | LUAD | 1 | K117 | S118N | STAD | 1 | C149 | A148T | 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 NR1D1 |
| 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 | T476 | T476A | -0.90256348 | R204 | R204H | -0.85802638 | R157 | R157C | -0.83464084 | K117 | S118N | -0.77883437 | C149 | A148T | -0.32013777 | R448 | R448L | -0.056211771 |
| (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 NR1D1 from PDB |
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| Differential gene expression and gene-gene network for NR1D1 |
| 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 NR1D1 |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for NR1D1 |
| Drug information targeting mutLBSgene (Approved drugs only) |
| Drug status | DrugBank ID | Name | Type | Drug structure |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of NR1D1 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | NUC | Nucleic Acids | 1a6y | A | R157 | NUC | Nucleic Acids | 1a6y | B | R157 | III | Peptide ligand (THR,HIS,ARG,LEU,ILE,THR,LEU,ALA,ASP,HIS,ILE,CYS,GLN,ILE,ILE,THR,GLN,ASP,PHE,ALA,ARG) | 3n00 | A | R448 T476 |
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| Conservation information for LBS of NR1D1 |
| Multiple alignments for P20393 in multiple species |
| LBS | AA sequence | # species | Species | C132 | GMVLLCKVCGD | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | C135 | LLCKVCGDVAS | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | C149 | YGVHACEGCKG | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | C152 | HACEGCKGFFR | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | C169 | IQYKRCLKNEN | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | C175 | LKNENCSIVRI | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | C185 | INRNRCQQCRF | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | C188 | NRCQQCRFKKC | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | E150 | GVHACEGCKGF | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | E173 | RCLKNENCSIV | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | E437 | VQEIWEDFSMS | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | E604 | NNMHSEKLLSF | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | F142 | DVASGFHYGVH | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | F155 | EGCKGFFRRSI | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | F205 | RDAVRFGRIPK | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | F443 | DFSMSFTPAVR | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | F477 | LKAGTFEVLMV | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | F609 | EKLLSFRVDAQ | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | F68 | DPARSFGSIPP | 2 | Homo sapiens, Bos taurus | F68 | DPARSFGSAPP | 1 | Mus musculus | F68 | DPARSFGTVPP | 1 | Rattus norvegicus | G11 | SNNNTGGVITY | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | G141 | GDVASGFHYGV | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | G151 | VHACEGCKGFF | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | G206 | DAVRFGRIPKR | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | I208 | VRFGRIPKREK | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | K117 | RVSPSKSTSNI | 2 | Homo sapiens, Bos taurus | K117 | RVSPSKGTSNI | 2 | Mus musculus, Rattus norvegicus | K153 | ACEGCKGFFRR | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | K473 | QVTLLKAGTFE | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | K605 | NMHSEKLLSFR | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | L472 | DQVTLLKAGTF | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | L606 | MHSEKLLSFRV | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | L607 | HSEKLLSFRVD | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | N183 | VRINRNRCQQC | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | P209 | RFGRIPKREKQ | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | Q161 | FRRSIQQNIQY | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | Q186 | NRNRCQQCRFK | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | Q433 | SGRTVQEIWED | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | Q465 | FRDLSQHDQVT | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | Q468 | LSQHDQVTLLK | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | R112 | MEDSSRVSPSK | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | R112 | LEDSNRVSPSK | 1 | Bos taurus | R157 | CKGFFRRSIQQ | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | R158 | KGFFRRSIQQN | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | R182 | IVRINRNRCQQ | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | R189 | RCQQCRFKKCL | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | R200 | SVGMSRDAVRF | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | R204 | SRDAVRFGRIP | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | R207 | AVRFGRIPKRE | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | R26 | GSSPSRTSPES | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | R26 | GSSPNRTSPES | 1 | Bos taurus | R448 | FTPAVREVVEF | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | R461 | HIPGFRDLSQH | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | S603 | LNNMHSEKLLS | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | S608 | SEKLLSFRVDA | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | T444 | FSMSFTPAVRE | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | T476 | LLKAGTFEVLM | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | V13 | NNTGGVITYIG | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | V203 | MSRDAVRFGRI | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | V447 | SFTPAVREVVE | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | V451 | AVREVVEFAKH | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | V469 | SQHDQVTLLKA | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | W436 | TVQEIWEDFSM | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus |
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