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Protein

Xenotropic and polytropic retrovirus receptor 1

Gene

XPR1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Plays a role in phosphate homeostasis. Mediates phosphate export from the cell (PubMed:23791524, PubMed:25938945). Binds inositol hexakisphosphate (Ins6P) and similar inositol polyphosphates, such as 5-diphospho-inositol pentakisphosphate (5-InsP7); these are important intracellular signaling molecules (PubMed:27080106).By similarity3 Publications

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sitei22Important for inositol polyphosphate binding1 Publication1
Sitei26Important for inositol polyphosphate binding1 Publication1

GO - Molecular functioni

  • efflux transmembrane transporter activity Source: UniProtKB
  • G-protein coupled receptor activity Source: ProtInc
  • inositol hexakisphosphate binding Source: UniProtKB
  • phosphate ion transmembrane transporter activity Source: UniProtKB
  • receptor activity Source: ProtInc
  • transmembrane signaling receptor activity Source: ProtInc
  • virus receptor activity Source: UniProtKB

GO - Biological processi

  • cellular phosphate ion homeostasis Source: UniProtKB
  • G-protein coupled receptor signaling pathway Source: ProtInc
  • phosphate ion transmembrane transport Source: UniProtKB
  • response to virus Source: Ensembl
Complete GO annotation...

Keywords - Molecular functioni

Host cell receptor for virus entry, Receptor

Enzyme and pathway databases

BioCyciZFISH:ENSG00000143324-MONOMER.

Names & Taxonomyi

Protein namesi
Recommended name:
Xenotropic and polytropic retrovirus receptor 1
Alternative name(s):
Protein SYG1 homolog
Xenotropic and polytropic murine leukemia virus receptor X3
Short name:
X-receptor
Gene namesi
Name:XPR1
Synonyms:SYG1, XR
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 1

Organism-specific databases

HGNCiHGNC:12827. XPR1.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 236CytoplasmicSequence analysisAdd BLAST236
Transmembranei237 – 257HelicalSequence analysisAdd BLAST21
Topological domaini258 – 264ExtracellularSequence analysis7
Transmembranei265 – 285HelicalSequence analysisAdd BLAST21
Topological domaini286 – 318CytoplasmicSequence analysisAdd BLAST33
Transmembranei319 – 339HelicalSequence analysisAdd BLAST21
Topological domaini340 – 345ExtracellularSequence analysis6
Transmembranei346 – 368HelicalSequence analysisAdd BLAST23
Topological domaini369 – 376CytoplasmicSequence analysis8
Transmembranei377 – 397HelicalSequence analysisAdd BLAST21
Topological domaini398 – 402ExtracellularSequence analysis5
Transmembranei403 – 423HelicalSequence analysisAdd BLAST21
Topological domaini424 – 473CytoplasmicSequence analysisAdd BLAST50
Transmembranei474 – 496HelicalSequence analysisAdd BLAST23
Topological domaini497 – 507ExtracellularSequence analysisAdd BLAST11
Transmembranei508 – 528HelicalSequence analysisAdd BLAST21
Topological domaini529 – 696CytoplasmicSequence analysisAdd BLAST168

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Membrane

Pathology & Biotechi

Involvement in diseasei

Basal ganglia calcification, idiopathic, 6 (IBGC6)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of basal ganglia calcification, an autosomal dominant condition characterized by symmetric calcification in the basal ganglia and other brain regions. Affected individuals can either be asymptomatic or show a wide spectrum of neuropsychiatric symptoms, including parkinsonism, dystonia, tremor, ataxia, dementia, psychosis, seizures, and chronic headache. Serum levels of calcium, phosphate, alkaline phosphatase and parathyroid hormone are normal. The neuropathological hallmark of the disease is vascular and pericapillary calcification, mainly of calcium phosphate, in the affected brain areas.
See also OMIM:616413
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_073840136S → N in IBGC6; phosphate efflux is impaired; present at the plasma membrane. 1 PublicationCorresponds to variant rs786205902dbSNPEnsembl.1
Natural variantiVAR_073841140L → P in IBGC6; phosphate efflux is impaired; present at the plasma membrane. 1 PublicationCorresponds to variant rs786205903dbSNPEnsembl.1
Natural variantiVAR_073842145L → P in IBGC6; dominant negative; phosphate efflux is impaired; loss of localization to the plasma membrane. 1 PublicationCorresponds to variant rs786205901dbSNPEnsembl.1
Natural variantiVAR_073843218L → S in IBGC6; present at the plasma membrane; phosphate efflux is impaired. 1 PublicationCorresponds to variant rs786205904dbSNPEnsembl.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi9213.
MIMi616413. phenotype.
OpenTargetsiENSG00000143324.
PharmGKBiPA37420.

Polymorphism and mutation databases

BioMutaiXPR1.
DMDMi74753221.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00003158531 – 696Xenotropic and polytropic retrovirus receptor 1Add BLAST696

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei668PhosphoserineCombined sources1
Modified residuei690PhosphothreonineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ9UBH6.
MaxQBiQ9UBH6.
PaxDbiQ9UBH6.
PeptideAtlasiQ9UBH6.
PRIDEiQ9UBH6.

PTM databases

iPTMnetiQ9UBH6.
PhosphoSitePlusiQ9UBH6.

Expressioni

Tissue specificityi

Widely expressed. Detected in spleen, lymph node, thymus, leukocytes, bone marrow, heart, kidney, pancreas and skeletal muscle.2 Publications

Developmental stagei

Expressed in fetal liver.2 Publications

Gene expression databases

BgeeiENSG00000143324.
CleanExiHS_XPR1.
ExpressionAtlasiQ9UBH6. baseline and differential.
GenevisibleiQ9UBH6. HS.

Organism-specific databases

HPAiHPA016557.

Interactioni

Protein-protein interaction databases

BioGridi114647. 42 interactors.
IntActiQ9UBH6. 21 interactors.
STRINGi9606.ENSP00000356562.

Structurei

Secondary structure

1696
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Helixi3 – 10Combined sources8
Helixi13 – 18Combined sources6
Helixi22 – 34Combined sources13
Helixi44 – 98Combined sources55
Helixi119 – 122Combined sources4
Helixi125 – 167Combined sources43
Helixi171 – 179Combined sources9
Turni180 – 182Combined sources3
Turni184 – 186Combined sources3
Helixi191 – 204Combined sources14

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
5IJHX-ray2.43A/B1-207[»]
ProteinModelPortaliQ9UBH6.
SMRiQ9UBH6.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini1 – 177SPXPROSITE-ProRule annotationAdd BLAST177
Domaini439 – 643EXSPROSITE-ProRule annotationAdd BLAST205

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni158 – 165Important for inositol polyphosphate bindingBy similarity8

Domaini

The SPX domain has high affinity for inositol polyphosphates, such as myo-inositol hexakisphosphate and 5-diphospho-myo-inositol pentakisphosphate (5-InsP7). Its affinity for inorganic phosphate is tow to three orders of magnitude lower.1 Publication

Sequence similaritiesi

Contains 1 EXS domain.PROSITE-ProRule annotation
Contains 1 SPX domain.PROSITE-ProRule annotation

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG1162. Eukaryota.
COG5409. LUCA.
GeneTreeiENSGT00500000044895.
HOGENOMiHOG000046196.
HOVERGENiHBG108684.
InParanoidiQ9UBH6.
OMAiWTVQISI.
OrthoDBiEOG091G02HT.
PhylomeDBiQ9UBH6.
TreeFamiTF314643.

Family and domain databases

InterProiIPR004342. EXS_C.
IPR004331. SPX_dom.
[Graphical view]
PfamiPF03124. EXS. 1 hit.
PF03105. SPX. 3 hits.
[Graphical view]
PROSITEiPS51380. EXS. 1 hit.
PS51382. SPX. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q9UBH6-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MKFAEHLSAH ITPEWRKQYI QYEAFKDMLY SAQDQAPSVE VTDEDTVKRY
60 70 80 90 100
FAKFEEKFFQ TCEKELAKIN TFYSEKLAEA QRRFATLQNE LQSSLDAQKE
110 120 130 140 150
STGVTTLRQR RKPVFHLSHE ERVQHRNIKD LKLAFSEFYL SLILLQNYQN
160 170 180 190 200
LNFTGFRKIL KKHDKILETS RGADWRVAHV EVAPFYTCKK INQLISETEA
210 220 230 240 250
VVTNELEDGD RQKAMKRLRV PPLGAAQPAP AWTTFRVGLF CGIFIVLNIT
260 270 280 290 300
LVLAAVFKLE TDRSIWPLIR IYRGGFLLIE FLFLLGINTY GWRQAGVNHV
310 320 330 340 350
LIFELNPRSN LSHQHLFEIA GFLGILWCLS LLACFFAPIS VIPTYVYPLA
360 370 380 390 400
LYGFMVFFLI NPTKTFYYKS RFWLLKLLFR VFTAPFHKVG FADFWLADQL
410 420 430 440 450
NSLSVILMDL EYMICFYSLE LKWDESKGLL PNNSEESGIC HKYTYGVRAI
460 470 480 490 500
VQCIPAWLRF IQCLRRYRDT KRAFPHLVNA GKYSTTFFMV TFAALYSTHK
510 520 530 540 550
ERGHSDTMVF FYLWIVFYII SSCYTLIWDL KMDWGLFDKN AGENTFLREE
560 570 580 590 600
IVYPQKAYYY CAIIEDVILR FAWTIQISIT STTLLPHSGD IIATVFAPLE
610 620 630 640 650
VFRRFVWNFF RLENEHLNNC GEFRAVRDIS VAPLNADDQT LLEQMMDQDD
660 670 680 690
GVRNRQKNRS WKYNQSISLR RPRLASQSKA RDTKVLIEDT DDEANT
Length:696
Mass (Da):81,535
Last modified:May 1, 2000 - v1
Checksum:iB5B4BABF5CA2503A
GO
Isoform 2 (identifier: Q9UBH6-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     437-501: Missing.

Show »
Length:631
Mass (Da):73,919
Checksum:iEAFF4C1162AC29AB
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_073840136S → N in IBGC6; phosphate efflux is impaired; present at the plasma membrane. 1 PublicationCorresponds to variant rs786205902dbSNPEnsembl.1
Natural variantiVAR_073841140L → P in IBGC6; phosphate efflux is impaired; present at the plasma membrane. 1 PublicationCorresponds to variant rs786205903dbSNPEnsembl.1
Natural variantiVAR_073842145L → P in IBGC6; dominant negative; phosphate efflux is impaired; loss of localization to the plasma membrane. 1 PublicationCorresponds to variant rs786205901dbSNPEnsembl.1
Natural variantiVAR_073843218L → S in IBGC6; present at the plasma membrane; phosphate efflux is impaired. 1 PublicationCorresponds to variant rs786205904dbSNPEnsembl.1
Natural variantiVAR_038350491T → A.1 PublicationCorresponds to variant rs1061012dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_030748437 – 501Missing in isoform 2. 1 PublicationAdd BLAST65

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF115389 mRNA. Translation: AAD17211.1.
AF089744 mRNA. Translation: AAD10196.1.
AF099082 mRNA. Translation: AAD08928.1.
AL590085, AL162431, AL358434 Genomic DNA. Translation: CAH70457.1.
AL590085, AL162431, AL358434 Genomic DNA. Translation: CAH70458.1.
AL162431, AL358434, AL590085 Genomic DNA. Translation: CAH74089.1.
AL162431, AL358434, AL590085 Genomic DNA. Translation: CAH74090.1.
AL358434, AL162431, AL590085 Genomic DNA. Translation: CAH74113.1.
AL358434, AL162431, AL590085 Genomic DNA. Translation: CAH74114.1.
CH471067 Genomic DNA. Translation: EAW91086.1.
BC041142 mRNA. Translation: AAH41142.1.
AL133058 mRNA. Translation: CAB61383.1.
AL137583 mRNA. Translation: CAB70825.1.
CCDSiCCDS1340.1. [Q9UBH6-1]
CCDS44284.1. [Q9UBH6-2]
PIRiT42660.
RefSeqiNP_001129141.1. NM_001135669.1. [Q9UBH6-2]
NP_004727.2. NM_004736.3. [Q9UBH6-1]
UniGeneiHs.227656.

Genome annotation databases

EnsembliENST00000367589; ENSP00000356561; ENSG00000143324. [Q9UBH6-2]
ENST00000367590; ENSP00000356562; ENSG00000143324. [Q9UBH6-1]
GeneIDi9213.
KEGGihsa:9213.
UCSCiuc001goi.4. human. [Q9UBH6-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF115389 mRNA. Translation: AAD17211.1.
AF089744 mRNA. Translation: AAD10196.1.
AF099082 mRNA. Translation: AAD08928.1.
AL590085, AL162431, AL358434 Genomic DNA. Translation: CAH70457.1.
AL590085, AL162431, AL358434 Genomic DNA. Translation: CAH70458.1.
AL162431, AL358434, AL590085 Genomic DNA. Translation: CAH74089.1.
AL162431, AL358434, AL590085 Genomic DNA. Translation: CAH74090.1.
AL358434, AL162431, AL590085 Genomic DNA. Translation: CAH74113.1.
AL358434, AL162431, AL590085 Genomic DNA. Translation: CAH74114.1.
CH471067 Genomic DNA. Translation: EAW91086.1.
BC041142 mRNA. Translation: AAH41142.1.
AL133058 mRNA. Translation: CAB61383.1.
AL137583 mRNA. Translation: CAB70825.1.
CCDSiCCDS1340.1. [Q9UBH6-1]
CCDS44284.1. [Q9UBH6-2]
PIRiT42660.
RefSeqiNP_001129141.1. NM_001135669.1. [Q9UBH6-2]
NP_004727.2. NM_004736.3. [Q9UBH6-1]
UniGeneiHs.227656.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
5IJHX-ray2.43A/B1-207[»]
ProteinModelPortaliQ9UBH6.
SMRiQ9UBH6.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi114647. 42 interactors.
IntActiQ9UBH6. 21 interactors.
STRINGi9606.ENSP00000356562.

PTM databases

iPTMnetiQ9UBH6.
PhosphoSitePlusiQ9UBH6.

Polymorphism and mutation databases

BioMutaiXPR1.
DMDMi74753221.

Proteomic databases

EPDiQ9UBH6.
MaxQBiQ9UBH6.
PaxDbiQ9UBH6.
PeptideAtlasiQ9UBH6.
PRIDEiQ9UBH6.

Protocols and materials databases

DNASUi9213.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000367589; ENSP00000356561; ENSG00000143324. [Q9UBH6-2]
ENST00000367590; ENSP00000356562; ENSG00000143324. [Q9UBH6-1]
GeneIDi9213.
KEGGihsa:9213.
UCSCiuc001goi.4. human. [Q9UBH6-1]

Organism-specific databases

CTDi9213.
DisGeNETi9213.
GeneCardsiXPR1.
H-InvDBHIX0001390.
HGNCiHGNC:12827. XPR1.
HPAiHPA016557.
MIMi605237. gene.
616413. phenotype.
neXtProtiNX_Q9UBH6.
OpenTargetsiENSG00000143324.
PharmGKBiPA37420.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1162. Eukaryota.
COG5409. LUCA.
GeneTreeiENSGT00500000044895.
HOGENOMiHOG000046196.
HOVERGENiHBG108684.
InParanoidiQ9UBH6.
OMAiWTVQISI.
OrthoDBiEOG091G02HT.
PhylomeDBiQ9UBH6.
TreeFamiTF314643.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000143324-MONOMER.

Miscellaneous databases

GenomeRNAii9213.
PROiQ9UBH6.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000143324.
CleanExiHS_XPR1.
ExpressionAtlasiQ9UBH6. baseline and differential.
GenevisibleiQ9UBH6. HS.

Family and domain databases

InterProiIPR004342. EXS_C.
IPR004331. SPX_dom.
[Graphical view]
PfamiPF03124. EXS. 1 hit.
PF03105. SPX. 3 hits.
[Graphical view]
PROSITEiPS51380. EXS. 1 hit.
PS51382. SPX. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiXPR1_HUMAN
AccessioniPrimary (citable) accession number: Q9UBH6
Secondary accession number(s): O95719
, Q7L8K9, Q8IW20, Q9NT19, Q9UFB9
Entry historyi
Integrated into UniProtKB/Swiss-Prot: February 5, 2008
Last sequence update: May 1, 2000
Last modified: November 2, 2016
This is version 120 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Caution

It is unclear whether its ability to act as a receptor for xenotropic and polytropic murine leukemia retroviruses is relevant in vivo and whether such viruses can infect human.Curated

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.