Gene Gene information from NCBI Gene database.
Entrez ID 9213
Gene name Xenotropic and polytropic retrovirus receptor 1
Gene symbol XPR1
Synonyms (NCBI Gene)
IBGC6SLC53A1SYG1X3
Chromosome 1
Chromosome location 1q25.3
Summary 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 assoc
SNPs SNP information provided by dbSNP.
5
SNP ID Visualize variation Clinical significance Consequence
rs786205901 T>C Pathogenic Missense variant, coding sequence variant, non coding transcript variant
rs786205902 G>A Pathogenic Missense variant, coding sequence variant, non coding transcript variant
rs786205903 T>C Pathogenic Missense variant, coding sequence variant, non coding transcript variant
rs786205904 T>C Pathogenic Missense variant, coding sequence variant, non coding transcript variant
rs1571259311 A>G Likely-pathogenic Splice acceptor variant, genic downstream transcript variant
miRNA miRNA information provided by mirtarbase database.
805
miRTarBase ID miRNA Experiments Reference
MIRT019868 hsa-miR-375 Microarray 20215506
MIRT025774 hsa-miR-7-5p Microarray 19073608
MIRT037822 hsa-miR-455-3p CLASH 23622248
MIRT036185 hsa-miR-320b CLASH 23622248
MIRT036185 hsa-miR-320b CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
16
GO ID Ontology Definition Evidence Reference
GO:0000822 Function Inositol hexakisphosphate binding IBA
GO:0000822 Function Inositol hexakisphosphate binding IDA 27080106
GO:0001618 Function Virus receptor activity IEA
GO:0005315 Function Phosphate transmembrane transporter activity IBA
GO:0005315 Function Phosphate transmembrane transporter activity IMP 23791524
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
605237 12827 ENSG00000143324
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9UBH6
Protein name Solute carrier family 53 member 1 (Phosphate exporter SLC53A1) (Protein SYG1 homolog) (Xenotropic and polytropic murine leukemia virus receptor X3) (X-receptor) (Xenotropic and polytropic retrovirus receptor 1)
Protein function Inorganic ion transporter that mediates phosphate ion export across plasma membrane (PubMed:23791524, PubMed:25938945, PubMed:27080106, PubMed:31043717, PubMed:39169184, PubMed:39325866, PubMed:39747008, PubMed:39814721). Plays a major role in p
PDB 5IJH , 8TYU , 8TYV , 8X5B , 8X5E , 8X5F , 8YET , 8YEX , 8YF4 , 8YFD , 8YFU , 8YFW , 8YFX , 9IJY , 9IJZ , 9IWS , 9J4X , 9J51 , 9J52 , 9J53 , 9J97 , 9J98
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF03105 SPX 1 50 SPX domain Domain
PF03105 SPX 34 102 SPX domain Domain
PF03105 SPX 93 172 SPX domain Domain
PF03124 EXS 268 617 EXS family Family
Tissue specificity TISSUE SPECIFICITY: Widely expressed. Detected in spleen, lymph node, thymus, leukocytes, bone marrow, heart, kidney, pancreas and skeletal muscle. {ECO:0000269|PubMed:9927670, ECO:0000269|PubMed:9990033}.
Sequence
MKFAEHLSAHITPEWRKQYIQYEAFKDMLYSAQDQAPSVEVTDEDTVKRYFAKFEEKFFQ
TCEKELAKINTFYSEKLAEAQRRFATLQNELQSSLDAQKESTGVTTLRQRRKPVFHLSHE
ERVQHRNIKDLKLAFSEFYLSLILLQNYQNLNFTGFRKILKKHDKILETSRG
ADWRVAHV
EVAPFYTCKKINQLISETEAVVTNELEDGDRQKAMKRLRVPPLGAAQPAPAWTTFRVGLF
CGIFIVLNITLVLAAVFKLETDRSIWPLIRIYRGGFLLIEFLFLLGINTYGWRQAGVNHV
LIFELNPRSNLSHQHLFEIAGFLGILWCLSLLACFFAPISVIPTYVYPLALYGFMVFFLI
NPTKTFYYKSRFWLLKLLFRVFTAPFHKVGFADFWLADQLNSLSVILMDLEYMICFYSLE
LKWDESKGLLPNNSEESGICHKYTYGVRAIVQCIPAWLRFIQCLRRYRDTKRAFPHLVNA
GKYSTTFFMVTFAALYSTHKERGHSDTMVFFYLWIVFYIISSCYTLIWDLKMDWGLFDKN
AGENTFLREEIVYPQKAYYYCAIIEDVILRFAWTIQISITSTTLLPHSGDIIATVFAPLE
VFRRFVWNFFRLENEHL
NNCGEFRAVRDISVAPLNADDQTLLEQMMDQDDGVRNRQKNRS
WKYNQSISLRRPRLASQSKARDTKVLIEDTDDEANT
Sequence length 696
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
23
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Basal ganglia calcification, idiopathic, 6 Pathogenic; Likely pathogenic rs786205901, rs786205902, rs786205903, rs786205904, rs1488698763 RCV000172879
RCV000172880
RCV000172881
RCV000172882
RCV003990820
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Acute myeloid leukemia Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ASTHMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BASAL GANGLIA DISEASES CTD, Disgenet
CTD, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute Promyelocytic Leukemia Promyelocytic Leukemia BEFREE 9535176
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma BEFREE 15699354
★☆☆☆☆
Found in Text Mining only
Adenomatous Polyposis Coli Multiple polyposis syndrome BEFREE 26609171
★☆☆☆☆
Found in Text Mining only
Age related macular degeneration Age-related macular degeneration BEFREE 21239617
★☆☆☆☆
Found in Text Mining only
Alopecia Alopecia BEFREE 25060608
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease, Late Onset Alzheimer disease BEFREE 12604774
★☆☆☆☆
Found in Text Mining only
Amyotrophic Lateral Sclerosis Amyotrophic Lateral Sclerosis BEFREE 28244008
★☆☆☆☆
Found in Text Mining only
Arteriosclerosis Arteriosclerosis BEFREE 17034119, 18633604, 19101522, 21071998, 22918042, 23652462, 24385509, 27460841, 27835742, 28794002, 29394501, 30026549, 30996006, 31499362
★☆☆☆☆
Found in Text Mining only
Asthma Asthma BEFREE 28114934
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Atherosclerosis Atherosclerosis BEFREE 17034119, 18633604, 19101522, 21071998, 22918042, 23652462, 24385509, 27460841, 27835742, 28794002, 29394501, 30026549, 30996006, 31499362
★☆☆☆☆
Found in Text Mining only