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mutLBSgeneDB |
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| Gene summary for S1PR1 |
 Gene summary |
| Basic gene Info. | Gene symbol | S1PR1 |
| Gene name | sphingosine-1-phosphate receptor 1 | |
| Synonyms | CD363|CHEDG1|D1S3362|ECGF1|EDG-1|EDG1|S1P1 | |
| Cytomap | UCSC genome browser: 1p21 | |
| Type of gene | protein-coding | |
| RefGenes | NM_001400.4, | |
| Description | S1P receptor 1S1P receptor Edg-1endothelial differentiation G-protein coupled receptor 1endothelial differentiation, sphingolipid G-protein-coupled receptor, 1sphingosine 1-phosphate receptor 1sphingosine 1-phosphate receptor EDG1sphingosine 1-phosp | |
| Modification date | 20141222 | |
| dbXrefs | MIM : 601974 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000170989 | ||
| HPRD : 03578 | ||
| Vega : OTTHUMG00000010835 | ||
| Protein | UniProt: P21453 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_S1PR1 | |
| BioGPS: 1901 | ||
| Pathway | NCI Pathway Interaction Database: S1PR1 | |
| KEGG: S1PR1 | ||
| REACTOME: S1PR1 | ||
| Pathway Commons: S1PR1 | ||
| Context | iHOP: S1PR1 | |
| ligand binding site mutation search in PubMed: S1PR1 | ||
| UCL Cancer Institute: S1PR1 | ||
| 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:0003376 | sphingosine-1-phosphate signaling pathway | 22344443 |
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| Ligand binding site mutations for S1PR1 |
| 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 | S105 | L104F | LUAD | 2 | L276 | L275V | BLCA | 1 | W269 | A267T | COAD | 1 | S105 | G106V | LUAD | 1 | E294 | A293V | STAD | 1 | C206 | L204I | UCEC | 1 | E294 | A293V | UCEC | 1 | S105 | A107T | 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 S1PR1 |
| 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 | E294 | A293V | 0.093523991 | C206 | L204I | -1.4890061 | S105 | L104F | -1.3560115 | S105 | A107T | -1.159843 | W269 | A267T | -0.77184713 | L276 | L275V | -0.68223569 | S105 | G106V | -0.42862694 |
| (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 S1PR1 from PDB |
| PDB ID | PDB title | PDB structure | 3V2W | Crystal Structure of a Lipid G protein-Coupled Receptor at 3.35A |  |
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| Differential gene expression and gene-gene network for S1PR1 |
| 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 S1PR1 |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0007097 | Carcinoma | 1 | Biomarker |
| umls:C0024667 | Mammary Neoplasms, Animal | 1 | Biomarker |
| umls:C0024668 | Mammary Neoplasms, Experimental | 1 | Biomarker |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for S1PR1 |
| 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 |
| Approved|investigational | DB09105 | Asfotase Alfa | Biotech |  |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of S1PR1 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | ML5 | {(3R)-3-AMINO-4-[(3-HEXYLPHENYL)AMINO]-4-OXOBUTYL}PHOSPHONIC ACID | 3v2w | A | S105 C206 W269 L276 E294 |
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| Conservation information for LBS of S1PR1 |
| Multiple alignments for P21453 in multiple species |
| LBS | AA sequence | # species | Species | C206 | HYILFCTTVFT | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | C206 | AYILFCTTVFS | 1 | Danio rerio | E121 | QWFLREGSMFV | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | E121 | QWFFREGSMFV | 1 | Danio rerio | E294 | ILYKAEYFLVL | 2 | Mus musculus, Rattus norvegicus | E294 | ILFRAEYFLVL | 1 | Homo sapiens | E294 | ILYKAEWFLAL | 1 | Danio rerio | E294 | ILFRTEYFLVL | 1 | Bos taurus | F125 | REGSMFVALSA | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | F125 | REGSMFVALAA | 1 | Danio rerio | K34 | YNYTGKLNISA | 1 | Homo sapiens | K34 | YNFTGKFR-KV | 1 | Danio rerio | K34 | YNYTGKLNIGA | 1 | Mus musculus | K34 | YNYTGKLNIGV | 1 | Rattus norvegicus | K34 | YNYTGKLKISA | 1 | Bos taurus | L128 | SMFVALSASVF | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | L128 | SMFVALAASVF | 1 | Danio rerio | L276 | PLFILLLLDVG | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | L276 | PLFILLLLDVA | 1 | Danio rerio | L297 | KAEYFLVLAVL | 2 | Mus musculus, Rattus norvegicus | L297 | RAEYFLVLAVL | 1 | Homo sapiens | L297 | KAEWFLALAVL | 1 | Danio rerio | L297 | RTEYFLVLAVL | 1 | Bos taurus | M124 | LREGSMFVALS | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | M124 | FREGSMFVALA | 1 | Danio rerio | N101 | VAYTANLLLSG | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | N101 | VVYTANILLSG | 1 | Danio rerio | R120 | AQWFLREGSMF | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | R120 | TQWFFREGSMF | 1 | Danio rerio | S105 | ANLLLSGATTY | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | S105 | ANILLSGANTY | 1 | Danio rerio | W269 | VFIACWAPLFI | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | W269 | CFIACWAPLFI | 1 | Danio rerio | Y29 | IIVRHYNYTGK | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | Y29 | LIARHYNFTGK | 1 | Danio rerio |
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