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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
XPR1
xenotropic and polytropic retrovirus receptor 1
Chromosome 1 Β· 1q25.3
NCBI Gene: 9213Ensembl: ENSG00000143324.15HGNC: HGNC:12827UniProt: Q9UBH6
59PubMed Papers
21Diseases
0Drugs
7Pathogenic Variants
FUNCTIONAL ROLE
Transporter
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
inositol hexakisphosphate bindingphosphate transmembrane transporter activityefflux transmembrane transporter activityintracellular phosphate ion homeostasisbasal ganglia calcification, idiopathic, 6bilateral striopallidodentate calcinosiscentral nervous system cancerovarian carcinoma
✦AI Summary

XPR1 (xenotropic and polytropic retrovirus receptor 1) functions as the sole inorganic phosphate (Pi) exporter in human cells, playing a critical role in cellular phosphate homeostasis 1. The protein operates as an inositol phosphate-activated phosphate channel, mediating phosphate efflux across the plasma membrane to prevent toxic intracellular phosphate accumulation 23. XPR1 activity is regulated through binding of inositol pyrophosphates, particularly inositol hexakisphosphate (InsP6) and 1,5-InsP8, which bind to the SPX domain and trigger conformational changes that open the transport pathway 23. The protein requires KIDINS220 as a partner for proper cellular localization and activity, forming a complex that undergoes synergistic activation 14. In astrocytes, XPR1 shows polarized distribution at blood vessel end-feet, contributing to brain phosphate homeostasis 5. Disease-wise, XPR1 mutations cause primary familial brain calcification (PFBC, also known as Fahr's disease), an autosomal dominant disorder characterized by bilateral basal ganglia calcifications and neurological symptoms including movement disorders, cognitive decline, and psychiatric manifestations 67. Additionally, XPR1 dysregulation represents a therapeutic vulnerability in ovarian cancer, where disruption of the XPR1-KIDINS220 complex leads to toxic phosphate accumulation and cell death 1.

Sources cited
1
XPR1 is the sole phosphate exporter and forms complex with KIDINS220; represents therapeutic target in ovarian cancer
PMID: 35437317
2
XPR1 functions as inositol phosphate-activated phosphate channel with dual PP-IP binding sites
PMID: 39325866
3
1,5-InsP8 binding rigidifies SPX domains and initiates phosphate transport
PMID: 40113814
4
KIDINS220 works synergistically with InsP6 to regulate XPR1 activity
PMID: 40128258
5
XPR1 shows polarized distribution in astrocytes at blood vessel end-feet
PMID: 39019040
6
XPR1 mutations cause autosomal dominant primary familial brain calcification
PMID: 40169250
7
XPR1 is one of seven genes associated with PFBC causing movement disorders, cognitive decline, and psychiatric symptoms
PMID: 37446066
Disease Associationsβ“˜21
basal ganglia calcification, idiopathic, 6Open Targets
0.76Strong
bilateral striopallidodentate calcinosisOpen Targets
0.38Weak
central nervous system cancerOpen Targets
0.24Weak
ovarian carcinomaOpen Targets
0.22Weak
carcinoma of gallbladder and extrahepatic biliary tractOpen Targets
0.22Weak
ankylosing spondylitisOpen Targets
0.20Weak
genetic disorderOpen Targets
0.19Weak
ovarian dysfunctionOpen Targets
0.19Weak
cervical carcinomaOpen Targets
0.18Weak
ovarian cancerOpen Targets
0.08Suggestive
papillary thyroid carcinomaOpen Targets
0.05Suggestive
cancerOpen Targets
0.05Suggestive
gram-positive bacterial infectionsOpen Targets
0.04Suggestive
neoplasmOpen Targets
0.04Suggestive
lung adenocarcinomaOpen Targets
0.03Suggestive
hepatocellular carcinomaOpen Targets
0.03Suggestive
breast carcinomaOpen Targets
0.03Suggestive
mathematical abilityOpen Targets
0.03Suggestive
esophageal squamous cell carcinomaOpen Targets
0.03Suggestive
hyperinsulinemic hypoglycemia, familial, 4Open Targets
0.02Suggestive
Basal ganglia calcification, idiopathic, 6UniProt
Pathogenic Variants7
NM_004736.4(XPR1):c.863A>G (p.Asn288Ser)Likely pathogenic
Basal ganglia calcification, idiopathic, 6
β˜…β˜†β˜†β˜†2024β†’ Residue 288
NM_004736.4(XPR1):c.1375C>T (p.Arg459Cys)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2022β†’ Residue 459
NM_004736.4(XPR1):c.2031-2A>GLikely pathogenic
not provided
β˜…β˜†β˜†β˜†2017
NM_004736.4(XPR1):c.653T>C (p.Leu218Ser)Pathogenic
Basal ganglia calcification, idiopathic, 6
β˜†β˜†β˜†β˜†2015β†’ Residue 218
NM_004736.4(XPR1):c.434T>C (p.Leu145Pro)Pathogenic
Basal ganglia calcification, idiopathic, 6
β˜†β˜†β˜†β˜†2015β†’ Residue 145
NM_004736.4(XPR1):c.407G>A (p.Ser136Asn)Pathogenic
Basal ganglia calcification, idiopathic, 6
β˜†β˜†β˜†β˜†2015β†’ Residue 136
NM_004736.4(XPR1):c.419T>C (p.Leu140Pro)Pathogenic
Basal ganglia calcification, idiopathic, 6
β˜†β˜†β˜†β˜†2015β†’ Residue 140
View on ClinVar β†—
Related Genes
NR1H4Protein interaction99%ABCG1Protein interaction93%SREBF2Protein interaction90%ABCG8Protein interaction90%NR1I3Protein interaction90%NR1H3Protein interaction85%
Tissue Expression6 tissues
Heart
100%
Brain
37%
Lung
16%
Bone Marrow
16%
Ovary
11%
Liver
7%
Gene Interaction Network
Click a node to explore
XPR1NR1H4ABCG1SREBF2ABCG8NR1I3NR1H3
PROTEIN STRUCTURE
Preparing viewer…
PDB8TYU Β· 1.40 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.43Moderately Constrained
pLIβ“˜
1.00Intolerant
Observed/Expected LoF0.31 [0.22–0.43]
RankingsWhere XPR1 stands among ~20K protein-coding genes
  • #7,833of 20,598
    Most Researched59
  • #3,214of 5,498
    Most Pathogenic Variants7
  • #2,317of 17,882
    Most Constrained (LOEUF)0.43 Β· top quartile
Genes detectedXPR1
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Basal ganglia calcification: 'Fahr's disease'.
PMID: 40169250
Pract Neurol Β· 2025
1.00
2
Phosphate dysregulation via the XPR1-KIDINS220 protein complex is a therapeutic vulnerability in ovarian cancer.
PMID: 35437317
Nat Cancer Β· 2022
0.90
3
The Genetics of Primary Familial Brain Calcification: A Literature Review.
PMID: 37446066
Int J Mol Sci Β· 2023
0.80
4
Basal ganglia calcifications (Fahr's syndrome): related conditions and clinical features.
PMID: 31267306
Neurol Sci Β· 2019
0.70
5
Structural basis for inositol pyrophosphate gating of the phosphate channel XPR1.
PMID: 39325866
Science Β· 2024
0.60