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mutLBSgeneDB |
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| Gene summary for NR5A1 |
 Gene summary |
| Basic gene Info. | Gene symbol | NR5A1 |
| Gene name | nuclear receptor subfamily 5, group A, member 1 | |
| Synonyms | AD4BP|ELP|FTZ1|FTZF1|POF7|SF-1|SF1|SPGF8|SRXY3 | |
| Cytomap | UCSC genome browser: 9q33 | |
| Type of gene | protein-coding | |
| RefGenes | NM_004959.4, | |
| Description | STF-1adrenal 4 binding proteinadrenal 4-binding proteinfushi tarazu factor homolog 1nuclear receptor AdBP4steroid hormone receptor Ad4BPsteroidogenic factor 1steroidogenic factor 1 nuclear receptorsteroidogenic factor-1 | |
| Modification date | 20141222 | |
| dbXrefs | MIM : 184757 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000136931 | ||
| HPRD : 01702 | ||
| Vega : OTTHUMG00000020655 | ||
| Protein | UniProt: Q13285 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_NR5A1 | |
| BioGPS: 2516 | ||
| Pathway | NCI Pathway Interaction Database: NR5A1 | |
| KEGG: NR5A1 | ||
| REACTOME: NR5A1 | ||
| Pathway Commons: NR5A1 | ||
| Context | iHOP: NR5A1 | |
| ligand binding site mutation search in PubMed: NR5A1 | ||
| UCL Cancer Institute: NR5A1 | ||
| 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 NR5A1. | 1. Hussain, S., Amar, A., Najeeb, M. N., & Khaliq, S. (2015). Two novel mutations in the NR5A1 gene as a cause of disorders of sex development in a Pakistani cohort of 46, XY patients. Andrologia. 26260161 | |
| Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez |
| GO ID | GO Term | PubMed ID | GO:2000020 | positive regulation of male gonad development | 21412441 |
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| Ligand binding site mutations for NR5A1 |
| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | A340 | A340V | COAD | 1 | R281 | R282W | LUAD | 1 | V291 | E290D | SKCM | 1 | V336 | T334I | SKCM | 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 NR5A1 |
| 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 | A340 | A340V | 0.14001011 | V291 | E290D | -1.2707965 | V336 | T334I | -0.3397016 | R281 | R282W | -0.27652853 |
| (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 NR5A1 from PDB |
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| Differential gene expression and gene-gene network for NR5A1 |
| 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 NR5A1 |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C2751824 | 46, XY Disorders of Sex Development | 23 | Biomarker, GeneticVariation |
| umls:C0001623 | Adrenal Insufficiency | 22 | Biomarker, GeneticVariation |
| umls:C0085215 | Primary Ovarian Insufficiency | 13 | Biomarker, GeneticVariation |
| umls:C0014175 | Endometriosis | 6 | AlteredExpression, Biomarker |
| umls:C0018054 | Gonadal Dysgenesis, 46,XY | 4 | Biomarker |
| umls:C0949595 | Gonadal Dysgenesis, 46,XX | 2 | Biomarker |
| umls:C0021364 | Infertility, Male | 1 | Biomarker, GeneticVariation |
| umls:C0919267 | Ovarian Neoplasms | 1 | Biomarker |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for NR5A1 |
| 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 | DB04683 | (2R)-3-{[{[(2S)-2,3-DIHYDROXYPROPYL]OXY}(HYDROXY)PHOSPHORYL]OXY}-2-[(9E)-HEXADEC-9-ENOYLOXY]PROPYL (9E)-OCTADEC-9-ENOATE | Small molecule |  |
| Experimental | DB04752 | Phosphatidyl ethanol | Small molecule |  |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of NR5A1 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | PIK | PI(4,5)P2 DIPALMITOYL (16:0,16:0) | (2S)-3-{[(R)-HYDROXY{[(1R,2R,3S,4R,5R,6S)-2,3,6- TRIHYDROXY-4,5-BIS(PHOSPHONOOXY) CYCLOHEXYL]OXY}PHOSPHORYL]OXY}PROPANE-1,2-DIYL DIHEXADECANOATE | 4qk4 | A | A340 | III | Peptide ligand (GLU,ASN,ALA,LEU,LEU,ARG,TYR,LEU,LEU,ASP,LYS,ASP) | 1zdt | A | R281 V291 | III | Peptide ligand (GLU,ASN,ALA,LEU,LEU,ARG,TYR,LEU,LEU,ASP,LYS) | 1zdt | B | R281 V291 | III | Peptide ligand (PRO,SER,LEU,LEU,LYS,LYS,LEU,LEU,LEU,ALA,PRO,ALA) | 4qjr | A | R281 V291 | III | Peptide ligand (PRO,SER,LEU,LEU,LYS,LYS,LEU,LEU,LEU,ALA,PRO,ALA) | 4qk4 | A | R281 V291 | P0E | PETH | 1yow | A | V336 A340 | PEF | PE(16:0/16:0) | 1zdt | A | V336 A340 | PEF | PE(16:0/16:0) | 1zdt | B | V336 A340 | PIZ | PI(3,4,5)P3 DIPALMITOYL (16:0, 16:0) | (2S)-3-{[(R)-{[(1S,2S,3R,4S,5S,6S)-2,6-DIHYDROXY-3,4,5- TRIS(PHOSPHONOOXY)CYCLOHEXYL]OXY}(HYDROXY) PHOSPHORYL]OXY}PROPANE-1,2-DIYL DIHEXADECANOATE | 4qjr | A | V336 A340 |
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| Conservation information for LBS of NR5A1 |
| Multiple alignments for Q13285 in multiple species |
| LBS | AA sequence | # species | Species | A260 | RPDQPAPFSLL | 2 | Rattus norvegicus, Bos taurus | A260 | RPDQPAAFGLL | 1 | Homo sapiens | A260 | RSDQPAPFSLL | 1 | Mus musculus | A340 | TVAVQAGSLLH | 2 | Mus musculus, Rattus norvegicus | A340 | TVATQAGSLLH | 1 | Homo sapiens | A340 | TVAAQAGSLLH | 1 | Bos taurus | A351 | SLVLRAQELVL | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | A433 | ALSMQAKEYLY | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | A458 | IEMLQAKQT | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | C266 | PFSLLCRMADQ | 3 | Mus musculus, Rattus norvegicus, Bos taurus | C266 | AFGLLCRMADQ | 1 | Homo sapiens | E454 | NNLLIEMLQAK | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | F262 | DQPAPFSLLCR | 3 | Mus musculus, Rattus norvegicus, Bos taurus | F262 | DQPAAFGLLCR | 1 | Homo sapiens | G341 | VAVQAGSLLHS | 2 | Mus musculus, Rattus norvegicus | G341 | VATQAGSLLHS | 1 | Homo sapiens | G341 | VAAQAGSLLHS | 1 | Bos taurus | H310 | LLVLDHIYRQV | 2 | Mus musculus, Rattus norvegicus | H310 | LLVFDHIYRQV | 1 | Homo sapiens | H310 | LLVFDHIYRQI | 1 | Bos taurus | H439 | KEYLYHKHLGN | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | I274 | ADQTFISIVDW | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | I323 | GKEGSILLVTG | 2 | Homo sapiens, Bos taurus | I323 | GKEDSILLVTG | 2 | Mus musculus, Rattus norvegicus | K440 | EYLYHKHLGNE | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | L265 | APFSLLCRMAD | 3 | Mus musculus, Rattus norvegicus, Bos taurus | L265 | AAFGLLCRMAD | 1 | Homo sapiens | L298 | DQMTLLQNCWS | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | L306 | CWSELLVFDHI | 2 | Homo sapiens, Bos taurus | L306 | CWSELLVLDHI | 2 | Mus musculus, Rattus norvegicus | L325 | EGSILLVTGQE | 2 | Homo sapiens, Bos taurus | L325 | EDSILLVTGQE | 2 | Mus musculus, Rattus norvegicus | L344 | QAGSLLHSLVL | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | L347 | SLLHSLVLRAQ | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | L429 | VEVRALSMQAK | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | L437 | QAKEYLYHKHL | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | L451 | MPRNNLLIEML | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | M295 | EVADQMTLLQN | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | M455 | NLLIEMLQAKQ | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | N449 | NEMPRNNLLIE | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | Q294 | LEVADQMTLLQ | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | Q299 | QMTLLQNCWSE | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | Q339 | STVAVQAGSLL | 2 | Mus musculus, Rattus norvegicus | Q339 | TTVATQAGSLL | 1 | Homo sapiens | Q339 | TTVAAQAGSLL | 1 | Bos taurus | R281 | IVDWARRCMVF | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | S303 | LQNCWSELLVF | 2 | Homo sapiens, Bos taurus | S303 | LQNCWSELLVL | 2 | Mus musculus, Rattus norvegicus | S430 | EVRALSMQAKE | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | V277 | TFISIVDWARR | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | V291 | FKELEVADQMT | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | V307 | WSELLVFDHIY | 2 | Homo sapiens, Bos taurus | V307 | WSELLVLDHIY | 2 | Mus musculus, Rattus norvegicus | V331 | VTGQEVELTTV | 2 | Homo sapiens, Bos taurus | V331 | VTGQEVELSTV | 2 | Mus musculus, Rattus norvegicus | V336 | VELSTVAVQAG | 2 | Mus musculus, Rattus norvegicus | V336 | VELTTVATQAG | 1 | Homo sapiens | V336 | VELTTVAAQAG | 1 | Bos taurus | Y436 | MQAKEYLYHKH | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus |
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