S1PR1 (Sphingosine-1-Phosphate Receptor 1)
A key G protein-coupled receptor regulating lymphocyte trafficking, vascular development, and immune homeostasis.
Gene Information Card
| Symbol | S1PR1 |
|---|---|
| Full Name | Sphingosine-1-Phosphate Receptor 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 1p21.2 |
| NCBI Gene ID | 1901 ncbi.nlm.nih.gov/gene/1901 |
| Ensembl ID | ENSG00000180785 |
| UniProt ID | P21453 |
| OMIM ID | 601974 |
| HGNC ID | 10889 |
| Aliases | EDG1, S1P1, CD363, ECGF1 |
Description
S1PR1 encodes a G protein-coupled receptor for sphingosine-1-phosphate (S1P), a bioactive lysophospholipid. This receptor is essential for lymphocyte egress from lymphoid organs, vascular endothelial barrier integrity, and cardiac development. It is the primary target of the immunomodulatory drug fingolimod (FTY720) used in multiple sclerosis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Multiple sclerosis | S1PR1 modulation by fingolimod retains lymphocytes in lymph nodes, reducing CNS inflammation. | ClinVar, PubMed |
| Lymphopenia | Loss-of-function mutations impair lymphocyte egress, leading to peripheral lymphopenia. | OMIM, PubMed |
| Vascular malformations | Dysregulated S1PR1 signaling disrupts endothelial barrier function. | NCBI Gene, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lung | 12.5 | High |
| Spleen | 10.8 | High |
| Lymph node | 9.2 | High |
| Heart | 6.1 | Medium |
| Brain | 3.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HUVEC (endothelial) | 15.0 | High expression |
| Jurkat (T-cell) | 8.5 | Moderate expression |
| HEK293 | 2.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.724C>T (p.Arg242Cys) | Missense | <0.01% | Reduced receptor internalization, altered signaling |
| c.100G>A (p.Gly34Arg) | Missense | <0.01% | Impaired S1P binding, loss of function |
Mutation functional classification
Loss of Function (LOF)
Mutations impairing S1P binding or receptor trafficking, leading to defective lymphocyte egress.
Gain of Function (GOF)
Not well documented; constitutive activation may promote aberrant angiogenesis.
Dominant Negative (DN)
Not reported for S1PR1.
View complete mutation data：
Gene Ontology (GO)
| • G protein-coupled receptor activity | • sphingosine-1-phosphate receptor activity |
| • cell surface receptor signaling pathway | • lymphocyte chemotaxis |
| • angiogenesis | • positive regulation of cell migration |
Pathways
• Sphingosine-1-phosphate signaling pathway
• Lymphocyte egress from lymphoid organs
• Vascular endothelial growth factor signaling
Protein Summary
S1PR1 is a 382-amino acid integral membrane protein with seven transmembrane domains. It couples primarily to Gi/o proteins, activating downstream pathways including PI3K/Akt and MAPK. Upon S1P binding, it regulates cytoskeletal rearrangement, cell migration, and barrier function. It is highly expressed on lymphocytes and endothelial cells.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| S1PR1 Knockout HEK293 Cell Line | EDJ-KQ1008 | Human | 1901 | Details Get a Quote |
| S1PR1 Knockout HeLa Cell Line | EDJ-KQ20063 | Human | 1901 | Details Get a Quote |
| S1PR1 Knockout A-549 Cell Line | EDJ-KQ61608 | Human | 1901 | Details Get a Quote |
| S1PR1 Knockout HCT 116 Cell Line | EDJ-KQ70096 | Human | 1901 | Details Get a Quote |
| S1PR1 Knockout U251 MG Cell Line | EDC07681 | Human | 1901 | Details Get a Quote |
Displaying Records 1 To 5 Of 5 Records
