Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
9213
Gene name Gene Name - the full gene name approved by the HGNC.
Xenotropic and polytropic retrovirus receptor 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
XPR1
Synonyms (NCBI Gene) Gene synonyms aliases
IBGC6, SLC53A1, SYG1, X3
Disease Acronyms (UniProt) Disease acronyms from UniProt database
IBGC6
Chromosome Chromosome number
1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1q25.3
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
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 information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000822 Function Inositol hexakisphosphate binding IBA 21873635
GO:0000822 Function Inositol hexakisphosphate binding IDA 27080106
GO:0001618 Function Virus receptor activity IMP 23791524
GO:0004888 Function Transmembrane signaling receptor activity TAS 9927670
GO:0004930 Function G protein-coupled receptor activity TAS 9990033
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
605237 12827 ENSG00000143324
Protein
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Basal ganglia calcification BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 6 rs1586022262, rs387906652, rs387906653, rs397509381, rs367543286, rs398122396, rs398122397, rs397515631, rs397515632, rs398122398, rs397515633, rs398122399, rs786205901, rs786205902, rs786205903
View all (29 more)
25938945, 27230854
Fanconi syndrome Fanconi Syndrome rs398124646 27799484
Microcephaly Microcephaly rs397704721, rs267607176, rs267607177, rs397704725, rs267606717, rs267606718, rs199422202, rs121434311, rs199422203, rs199422126, rs387906274, rs121434305, rs199422125, rs199422135, rs189678019
View all (280 more)
Parkinson disease Parkinsonian Disorders rs33939927, rs35801418, rs34805604, rs35870237, rs34995376, rs74315355, rs28940284, rs74315356, rs74315357, rs28940285, rs730880302, rs750664040, rs74315359, rs74315360, rs45539432
View all (84 more)
Unknown
Disease term Disease name Evidence References Source
Mental depression Depressive disorder ClinVar
Bilateral Striopallidodentate Calcinosis bilateral striopallidodentate calcinosis GenCC
Asthma Asthma GWAS
Associations from Text Mining
Disease Name Relationship Type References
Cognition Disorders Associate 29955172
Fahr's disease Associate 25938945, 28935882, 29955172, 31043717, 32393577, 33714066, 33793087, 36862146
Mental Disorders Associate 29955172, 32393577, 36862146
Neoplasms Associate 35437317
Ovarian Neoplasms Associate 35437317
Parkinson Disease Secondary Associate 29955172
Stomach Neoplasms Associate 37872772
Thyroid Cancer Papillary Associate 34117845
Thyroid Neoplasms Associate 37854594