XPR1

Chr 1q25.3

xenotropic and polytropic retrovirus receptor 1

Aliases:: SYG1, X3, SLC53A1
MANE:: ENST00000367590.9

OMIM: 605237 ↗NCBI: 9213 ↗Ensembl ↗

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Predicted protein structure

AlphaFold predicted structure

XPR1 · Q9UBH6

v62025-08-01

Predicted Aligned Error matrix for XPR1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

83.9/ 100

Confident

696 residues

Confidence breakdown

Very high(≥ 90)57%
Confident(70–90)26%
Low(50–70)6%
Very low(< 50)10%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Adult onset dystonia, chorea or related movement disorder
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Adult onset neurodegenerative disorder
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intracerebral calcification disorders
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural basal ganglia disorders
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
White matter disorders and cerebral calcification - narrow panel
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Childhood onset dystonia, chorea or related movement disorder
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Renal tubulopathies
Unknown
Parkinson Disease and Complex Parkinsonism
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Disease associations (Open Targets)

basal ganglia calcification, idiopathic, 6
0.75
bilateral striopallidodentate calcinosis
0.64
central nervous system cancer
0.26
ovarian carcinoma
0.24
carcinoma of gallbladder and extrahepatic biliary tract
0.22
hereditary disease
0.19
ankylosing spondylitis
0.18
ovarian dysfunction
0.17
cervical carcinoma
0.17
ovarian cancer
0.08

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Solute carrier family 53 member 1

Inorganic ion transporter that mediates phosphate ion export across the plasma membrane (PubMed:23791524, PubMed:25938945, PubMed:27080106, PubMed:31043717, PubMed:39169184, PubMed:39325866, PubMed:39747008, PubMed:39814721). Plays a major role in phosphate homeostasis, preventing intracellular phosphate accumulation and possible calcium phosphate precipitation, ultimately preserving calcium signaling (PubMed:27080106). Binds inositol hexakisphosphate (Ins6P) and similar inositol polyphosphates, such as 5-diphospho-inositol pentakisphosphate (5-InsP7), which are important intracellular signaling molecules involved in regulation of phosphate flux (PubMed:27080106, PubMed:39169184, PubMed:39325866)