XPR1

The protein encoded by this gene is a receptor for the xenotropic and polytropic classes of murine leukemia viruses. The encoded protein is involved in phosphate homeostasis by mediating phosphate export from the cell. Defects in this gene have been associated with idiopathic basal ganglia calcification-6.

Full Name

xenotropic and polytropic retrovirus receptor

Function

Plays a role in phosphate homeostasis. Mediates phosphate export from the cell (PubMed:23791524, PubMed:25938945).
Binds inositol hexakisphosphate (Ins6P) and similar inositol polyphosphates, such as 5-diphospho-inositol pentakisphosphate (5-InsP7); these are important intracellular signaling molecules (PubMed:27080106).

Biological Process

Biological Process cellular phosphate ion homeostasis Source:UniProtKB1 Publication
Biological Process cellular response to phosphate starvation Source:GO_Central1 Publication
Biological Process G protein-coupled receptor signaling pathway Source:ProtInc1 Publication
Biological Process phosphate ion transmembrane transport Source:UniProtKB1 Publication
Biological Process phosphate ion transport Source:GO_Central1 Publication
Biological Process response to virus Source:Ensembl

Cellular Location

Cell membrane

Involvement in disease

Basal ganglia calcification, idiopathic, 6 (IBGC6):
A form of basal ganglia calcification, an autosomal dominant condition characterized by symmetric calcification in the basal ganglia and other brain regions. Affected individuals can either be asymptomatic or show a wide spectrum of neuropsychiatric symptoms, including parkinsonism, dystonia, tremor, ataxia, dementia, psychosis, seizures, and chronic headache. Serum levels of calcium, phosphate, alkaline phosphatase and parathyroid hormone are normal. The neuropathological hallmark of the disease is vascular and pericapillary calcification, mainly of calcium phosphate, in the affected brain areas.

Topology

Cytoplasmic: 1-236
Helical: 237-257
Extracellular: 258-264
Helical: 258-264
Cytoplasmic: 286-318
Helical: 319-339
Extracellular: 340-345
Helical: 346-368
Cytoplasmic: 369-376
Helical: 377-397
Extracellular: 398-402
Helical: 403-423
Cytoplasmic: 424-473
Helical: 474-496
Extracellular: 497-507
Helical: 508-528
Cytoplasmic: 529-696