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XPR1 (xenotropic and polytropic retrovirus receptor 1)

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
9213
Gene nameGene Name - the full gene name approved by the HGNC.
Xenotropic and polytropic retrovirus receptor 1
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
XPR1
SynonymsGene synonyms aliases
IBGC6, SLC53A1, SYG1, X3
ChromosomeChromosome number
1
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1q25.3
SummarySummary 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
SNPsSNP 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
miRNAmiRNA 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 IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
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
Sequence
MKFAEHLSAHITPEWRKQYIQYEAFKDMLYSAQDQAPSVEVTDEDTVKRYFAKFEEKFFQ
TCEKELAKINTFYSEKLAEAQRRFATLQNELQSSLDAQKESTGVTTLRQRRKPVFHLSHE
ERVQHRNIKDLKLAFSEFYLSLILLQNYQNLNFTGFRKILKKHDKILETSRG
ADWRVAHV
EVAPFYTCKKINQLISETEAVVTNELEDGDRQKAMKRLRVPPLGAAQPAPAWTTFRVGLF
CGIFIVLNITLVLAAVFKLETDRSIWPLIRIYRGGFLLIEFLFLLGINTYGWRQAGVNHV
LIFELNPRSNLSHQHLFEIAGFLGILWCLSLLACFFAPISVIPTYVYPLALYGFMVFFLI
NPTKTFYYKSRFWLLKLLFRVFTAPFHKVGFADFWLADQLNSLSVILMDLEYMICFYSLE
LKWDESKGLLPNNSEESGICHKYTYGVRAIVQCIPAWLRFIQCLRRYRDTKRAFPHLVNA
GKYSTTFFMVTFAALYSTHKERGHSDTMVFFYLWIVFYIISSCYTLIWDLKMDWGLFDKN
AGENTFLREEIVYPQKAYYYCAIIEDVILRFAWTIQISITSTTLLPHSGDIIATVFAPLE
VFRRFVWNFFRLENEHL
NNCGEFRAVRDISVAPLNADDQTLLEQMMDQDDGVRNRQKNRS
WKYNQSISLRRPRLASQSKARDTKVLIEDTDDEANT
Sequence length 696
Interactions View interactions
Associated diseases
Causal
Disease name Disease term 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, rs786205904, rs398122395, rs1554546830, rs751093906, rs1563452941, rs760451348, rs749427106, rs1563982489, rs1563981743, rs1563981857, rs1563452873, rs1563452322, rs1563453866, rs1563490467, rs1563497714, rs1563498184, rs1563431044, rs1586025869, rs1588003652, rs868530644, rs775762093, rs765483979, rs1601038626, rs1600978441, rs1230941179, rs1383641309, rs781261918, rs751103286, rs1601038704 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, rs199422184, rs137852994, rs137852995, rs137852996, rs137852997, rs145489194, rs80338860, rs137852494, rs121918609, rs199422207, rs199422206, rs29001566, rs864321658, rs199422138, rs199422139, rs199422141, rs199422144, rs199422147, rs199422151, rs199422152, rs199422153, rs199422157, rs199422159, rs199422160, rs199422161, rs140602858, rs199422164, rs199422165, rs148294838, rs199422134, rs199422168, rs199422172, rs199422173, rs199422131, rs199422177, rs199422180, rs199422185, rs199422186, rs199422187, rs143931757, rs199422189, rs199422192, rs199422194, rs199422195, rs199422196, rs199422197, rs199422199, rs753597039, rs1488084787, rs387906961, rs755862917, rs387907082, rs587776899, rs387907083, rs587776900, rs587776901, rs387907084, rs863223322, rs764201220, rs202247811, rs763915472, rs587776986, rs587777036, rs398122971, rs374351172, rs373278668, rs398122976, rs121909123, rs587783393, rs730882076, rs587783211, rs144716013, rs606231255, rs587783215, rs587783216, rs587783220, rs587783221, rs587783225, rs587783227, rs587783228, rs587783230, rs587783238, rs587783239, rs587783240, rs587783245, rs587783247, rs587783248, rs587783258, rs587783259, rs587783263, rs587783265, rs587783268, rs587783269, rs587783272, rs587783275, rs587783277, rs587783278, rs587783280, rs587783282, rs587783283, rs587783285, rs587783287, rs587783288, rs587783289, rs587783292, rs587783295, rs587784452, rs587783741, rs587783735, rs587783392, rs587783390, rs587783387, rs587783410, rs202058504, rs587783423, rs587783421, rs587783414, rs587784553, rs587784558, rs587784546, rs587784549, rs587784554, rs587784412, rs876661307, rs869025200, rs747831095, rs748529285, rs797045316, rs797045315, rs797045314, rs759632528, rs797045313, rs797045311, rs754282058, rs797045441, rs797045454, rs797045430, rs869312853, rs797046109, rs767399782, rs863225127, rs863225464, rs863225465, rs780270096, rs864321621, rs864321620, rs775277800, rs879253817, rs869312824, rs761447719, rs753406334, rs147622433, rs199422137, rs879255522, rs879255524, rs879255523, rs886037892, rs886037893, rs886037894, rs886037895, rs199422169, rs886041709, rs886041282, rs138228629, rs759188041, rs769688376, rs1057517688, rs1057519087, rs1057518268, rs933106143, rs201362977, rs754909135, rs1057520873, rs1060499758, rs1060499757, rs199422146, rs748016594, rs1085307120, rs763715733, rs1064795945, rs763800571, rs1554728351, rs1553227021, rs555866170, rs1553895368, rs1334947797, rs769818500, rs1321892596, rs1553227645, rs1404276011, rs1553228275, rs1554471681, rs1554496609, rs1555420891, rs1555418825, rs587784548, rs1555723585, rs199736219, rs745997770, rs765275884, rs1553924800, rs1554730137, rs1229568621, rs1482100822, rs979186313, rs758157294, rs1555294652, rs1555299107, rs1553264033, rs1553259539, rs1553254322, rs1553259528, rs981349334, rs1553264036, rs1553253022, rs754267846, rs776034810, rs1342429887, rs752140135, rs1006898944, rs571640983, rs1477524771, rs763909256, rs199910503, rs1553223496, rs759663956, rs1553446603, rs1555139372, rs1555143325, rs1350194762, rs1555141158, rs1553225179, rs769481947, rs769364943, rs748011724, rs1334301723, rs746341112, rs149225624, rs765113367, rs1567024512, rs142865061, rs772050241, rs201721894, rs1557966012, rs1379578836, rs1568334868, rs1185537869, rs1602333390, rs1163303148, rs774338373, rs770540184, rs1571600045, rs1571601267, rs1571602991, rs1588472215, rs1599841026, rs1558328287, rs1571600860, rs1571596976, rs1309880692, rs1435239428, rs1588634016, rs1751797979, rs1810830776, rs1815354949, rs1949984655, rs886039658, rs1943461045, rs777711720, rs2031759596, rs1555710223, rs1221031683, rs774069989, rs2058919680, rs1170413397, rs1213710245, rs1599851667, rs1599760058, rs1971033478, rs746967357
Parkinson disease Parkinsonian Disorders rs116074753, rs118203903, rs118203904, rs115735611, rs33939927, rs35801418, rs34805604, rs35870237, rs34995376, rs74315355, rs28940284, rs74315356, rs74315357, rs28940285, rs730880302, rs750664040, rs74315359, rs74315360, rs45539432, rs74315361, rs119451946, rs80356771, rs74500255, rs75822236, rs1141814, rs78973108, rs121908681, rs121908686, rs121908687, rs137853054, rs137853055, rs137853056, rs137853057, rs137853058, rs137853059, rs34424986, rs137853060, rs397518439, rs28938172, rs74315351, rs74315353, rs137853051, rs118192098, rs121917767, rs121918104, rs1589451049, rs104893877, rs104893878, rs283413, rs112176450, rs111290936, rs188286943, rs387906863, rs387906864, rs774631197, rs199935023, rs387906942, rs397514694, rs398122403, rs398122404, rs398122405, rs104886460, rs409652, rs431905511, rs63751392, rs756677845, rs864309527, rs864309650, rs750014782, rs1554391082, rs864622011, rs869312810, rs869312809, rs869312811, rs369100678, rs879253853, rs869320761, rs747506979, rs879255630, rs886039854, rs191486604, rs781442277, rs1060499619, rs751037529, rs55777503, rs768091663, rs34208370, rs1553122929, rs772786691, rs754809877, rs1555907463, rs1557561340, rs781600849, rs141263564, rs1557901552, rs777160388, rs756783990, rs867929413, rs1237637353, rs1005937012, rs755000580, rs747427602, rs1578089802, rs771586218, rs748142049, rs1582953433, rs746646126, rs771529549, rs121918106
Unknown
Disease name Disease term dbSNP ID References
Basal ganglia diseases Basal Ganglia Diseases 25938945
Bilateral striopallidodentate calcinosis Bilateral striopallidodentate calcinosis
Choreoathetosis Choreoathetosis
Dementia Dementia

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