Human Gene XPR1 (uc009wxn.3)
  Description: Homo sapiens xenotropic and polytropic retrovirus receptor 1 (XPR1), transcript variant 2, mRNA.
RefSeq Summary (NM_001135669): 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 associated with idiopathic basal ganglia calcification-6. [provided by RefSeq, Jun 2016].
Transcript (Including UTRs)
   Position: hg19 chr1:180,601,146-180,859,415 Size: 258,270 Total Exon Count: 14 Strand: +
Coding Region
   Position: hg19 chr1:180,601,338-180,853,202 Size: 251,865 Coding Exon Count: 14 

Page IndexSequence and LinksPrimersGenetic AssociationsMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
mRNA DescriptionsOther NamesGeneReviewsModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr1:180,601,146-180,859,415)mRNA (may differ from genome)Protein (631 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkH-INVHGNCLynxMalacardsMGI
OMIMPubMedTreefamUniProtKBBioGrid CRISPR DB

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): XPR1
CDC HuGE Published Literature: XPR1

-  MalaCards Disease Associations
  MalaCards Gene Search: XPR1
Diseases sorted by gene-association score: basal ganglia calcification, idiopathic, 6* (1331), primary familial brain calcification* (213), basal ganglia calcification (33), nodular malignant melanoma (16)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 8.84 RPKM in Heart - Left Ventricle
Total median expression: 189.14 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -82.38192-0.429 Picture PostScript Text
3' UTR -1606.886213-0.259 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  Pfam Domains:
PF03105 - SPX domain
PF03124 - EXS family

ModBase Predicted Comparative 3D Structure on Q9UBH6-2
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGD    
 Protein Sequence    
 Alignment    

-  Descriptions from all associated GenBank mRNAs
  BC028576 - Homo sapiens cDNA clone IMAGE:4827651, containing frame-shift errors.
AK309750 - Homo sapiens cDNA, FLJ99791.
BC041142 - Homo sapiens xenotropic and polytropic retrovirus receptor, mRNA (cDNA clone MGC:47521 IMAGE:5582839), complete cds.
AF089744 - Homo sapiens xenotropic and polytropic murine leukemia virus receptor (X3) mRNA, complete cds.
AF099082 - Homo sapiens xenotropic and polytropic murine retrovirus receptor (XPR1) mRNA, complete cds.
CU691970 - Synthetic construct Homo sapiens gateway clone IMAGE:100021210 5' read XPR1 mRNA.
KJ892715 - Synthetic construct Homo sapiens clone ccsbBroadEn_02109 XPR1 gene, encodes complete protein.
AF115389 - Homo sapiens SYG1 protein (SYG1) mRNA, complete cds.
JD309134 - Sequence 290158 from Patent EP1572962.
JD523711 - Sequence 504735 from Patent EP1572962.
AL133058 - Homo sapiens mRNA; cDNA DKFZp434K0615 (from clone DKFZp434K0615).
AL137583 - Homo sapiens mRNA; cDNA DKFZp434F1310 (from clone DKFZp434F1310).
AK074789 - Homo sapiens cDNA FLJ90308 fis, clone NT2RP2000818, highly similar to Homo sapiens xenotropic and polytropic murine leukemia virus receptor (X3) mRNA.
JD555378 - Sequence 536402 from Patent EP1572962.
JD555576 - Sequence 536600 from Patent EP1572962.
JD373495 - Sequence 354519 from Patent EP1572962.
JD268055 - Sequence 249079 from Patent EP1572962.
JD409396 - Sequence 390420 from Patent EP1572962.
JD126073 - Sequence 107097 from Patent EP1572962.
LF205405 - JP 2014500723-A/12908: Polycomb-Associated Non-Coding RNAs.
LF320147 - JP 2014500723-A/127650: Polycomb-Associated Non-Coding RNAs.
JD339528 - Sequence 320552 from Patent EP1572962.
LF320146 - JP 2014500723-A/127649: Polycomb-Associated Non-Coding RNAs.
JD323355 - Sequence 304379 from Patent EP1572962.
JD171445 - Sequence 152469 from Patent EP1572962.
JD062184 - Sequence 43208 from Patent EP1572962.
JD298816 - Sequence 279840 from Patent EP1572962.
JD304062 - Sequence 285086 from Patent EP1572962.
JD275101 - Sequence 256125 from Patent EP1572962.
JD566172 - Sequence 547196 from Patent EP1572962.
JD297111 - Sequence 278135 from Patent EP1572962.
JD503939 - Sequence 484963 from Patent EP1572962.
JD298772 - Sequence 279796 from Patent EP1572962.
JD323812 - Sequence 304836 from Patent EP1572962.
LF320145 - JP 2014500723-A/127648: Polycomb-Associated Non-Coding RNAs.
LF320144 - JP 2014500723-A/127647: Polycomb-Associated Non-Coding RNAs.
JD530164 - Sequence 511188 from Patent EP1572962.
AK056306 - Homo sapiens cDNA FLJ31744 fis, clone NT2RI2007277.
JD229742 - Sequence 210766 from Patent EP1572962.
JD536187 - Sequence 517211 from Patent EP1572962.
JD376050 - Sequence 357074 from Patent EP1572962.
JD542829 - Sequence 523853 from Patent EP1572962.
JD542830 - Sequence 523854 from Patent EP1572962.
JD542831 - Sequence 523855 from Patent EP1572962.
JD542832 - Sequence 523856 from Patent EP1572962.
JD344147 - Sequence 325171 from Patent EP1572962.
JD498424 - Sequence 479448 from Patent EP1572962.
AK023131 - Homo sapiens cDNA FLJ13069 fis, clone NT2RP3001752.
LF320143 - JP 2014500723-A/127646: Polycomb-Associated Non-Coding RNAs.
LF320142 - JP 2014500723-A/127645: Polycomb-Associated Non-Coding RNAs.
AB075495 - Homo sapiens neuroblastoma cDNA, clone:Nbla00181, full insert sequence.
LF320141 - JP 2014500723-A/127644: Polycomb-Associated Non-Coding RNAs.
U79279 - Human clone 23774 mRNA sequence.
LF320140 - JP 2014500723-A/127643: Polycomb-Associated Non-Coding RNAs.
MA440982 - JP 2018138019-A/12908: Polycomb-Associated Non-Coding RNAs.
MA555724 - JP 2018138019-A/127650: Polycomb-Associated Non-Coding RNAs.
MA555723 - JP 2018138019-A/127649: Polycomb-Associated Non-Coding RNAs.
MA555722 - JP 2018138019-A/127648: Polycomb-Associated Non-Coding RNAs.
MA555721 - JP 2018138019-A/127647: Polycomb-Associated Non-Coding RNAs.
MA555720 - JP 2018138019-A/127646: Polycomb-Associated Non-Coding RNAs.
MA555719 - JP 2018138019-A/127645: Polycomb-Associated Non-Coding RNAs.
MA555718 - JP 2018138019-A/127644: Polycomb-Associated Non-Coding RNAs.
MA555717 - JP 2018138019-A/127643: Polycomb-Associated Non-Coding RNAs.

-  Other Names for This Gene
  Alternate Gene Symbols: NM_001135669, NP_001129141, Q9UBH6-2, SYG1, XR
UCSC ID: uc009wxn.3
RefSeq Accession: NM_001135669
Protein: Q9UBH6-2, splice isoform of Q9UBH6 CCDS: CCDS44284.1

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene XPR1:
bgc (Primary Familial Brain Calcification)

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_001135669.1
exon count: 14CDS single in 3' UTR: no RNA size: 8305
ORF size: 1896CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 3860.00frame shift in genome: no % Coverage: 99.95
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.