XPR1: Xenotropic and Polytropic Retrovirus Receptor 1
A phosphate exporter and retrovirus receptor with roles in primary familial brain calcification and phosphate homeostasis.
Gene Information Card
| Symbol | XPR1 |
|---|---|
| Full Name | Xenotropic and Polytropic Retrovirus Receptor 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 1q25.3 |
| NCBI Gene ID | 9213 ncbi.nlm.nih.gov/gene/9213 |
| Ensembl ID | ENSG00000143324 |
| UniProt ID | Q9UBH6 |
| OMIM ID | 605237 |
| HGNC ID | 12813 |
| Aliases | IBGC1, SLC53A1, XR, XPRI1 |
Description
XPR1 encodes a multipass transmembrane protein that functions as a phosphate exporter and as a receptor for xenotropic and polytropic murine leukemia retroviruses. The protein mediates cellular phosphate efflux, playing a critical role in phosphate homeostasis. Mutations in XPR1 are associated with primary familial brain calcification (PFBC), also known as idiopathic basal ganglia calcification. The gene is expressed in multiple tissues, with highest levels in brain, kidney, and placenta.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Primary familial brain calcification (PFBC) | Loss-of-function mutations impair phosphate export, leading to calcium-phosphate deposition in the basal ganglia. | ClinVar, OMIM #605237 |
| Xenotropic and polytropic retrovirus infection | XPR1 serves as the cell surface receptor for these retroviruses, enabling viral entry. | UniProt, NCBI Gene |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Kidney | 15.2 | Medium |
| Placenta | 18.7 | Medium |
| Lung | 8.3 | Low |
| Liver | 6.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 22.4 | High expression |
| SH-SY5Y | 14.1 | Medium expression |
| HepG2 | 7.8 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.2362C>T (p.Arg788Trp) | Missense | Rare | Loss of phosphate export function; associated with PFBC |
| c.2023G>A (p.Gly675Arg) | Missense | Rare | Impaired phosphate efflux; PFBC |
| c.1871C>T (p.Thr624Met) | Missense | Rare | Reduced phosphate export; PFBC |
Mutation functional classification
Loss of Function (LOF)
Missense mutations (e.g., p.Arg788Trp, p.Gly675Arg) reduce or abolish phosphate export activity, leading to PFBC.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • inorganic phosphate transmembrane transporter activity (GO:0005315) | • symporter activity (GO:0015293) |
| • integral component of membrane (GO:0016021) | • phosphate ion transport (GO:0006817) |
| • transmembrane transport (GO:0055085) | • virus receptor activity (GO:0001618) |
Pathways
• Phosphate homeostasis
• Retrovirus entry into host cell
Protein Summary
XPR1 is a 696-amino acid multipass transmembrane protein that functions as a phosphate exporter, coupling phosphate efflux to potassium influx. It also acts as a receptor for xenotropic and polytropic murine leukemia retroviruses. The protein is localized to the plasma membrane and is highly expressed in brain, kidney, and placenta. Mutations impairing phosphate export cause primary familial brain calcification.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| XPR1 Knockout HEK293 Cell Line | EDJ-KQ6505 | Human | 9213 | Details Get a Quote |
| XPR1 Knockout A-549 Cell Line | EDJ-KQ30647 | Human | 9213 | Details Get a Quote |
| XPR1 Knockout HCT 116 Cell Line | EDJ-KQ30648 | Human | 9213 | Details Get a Quote |
| XPR1 Knockout HeLa Cell Line | EDJ-KQ30649 | Human | 9213 | Details Get a Quote |
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