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Aliases for XPR1 Gene

Aliases for XPR1 Gene

  • Xenotropic And Polytropic Retrovirus Receptor 1 2 3 5
  • Xenotropic And Polytropic Murine Leukemia Virus Receptor X3 3 4
  • Protein SYG1 Homolog 3 4
  • X-Receptor 3 4
  • SYG1 3 4
  • Xenotropic And Polytropic Retrovirus Receptor 2
  • IBGC6 3
  • XR 4
  • X3 3

External Ids for XPR1 Gene

Previous GeneCards Identifiers for XPR1 Gene

  • GC01P178125
  • GC01P176029
  • GC01P177121
  • GC01P177840
  • GC01P177332
  • GC01P178867
  • GC01P151831

Summaries for XPR1 Gene

GeneCards Summary for XPR1 Gene

XPR1 (Xenotropic And Polytropic Retrovirus Receptor 1) is a Protein Coding gene. Diseases associated with XPR1 include basal ganglia calcification, idiopathic, 6 and primary familial brain calcification. GO annotations related to this gene include G-protein coupled receptor activity and transmembrane signaling receptor activity.

UniProtKB/Swiss-Prot for XPR1 Gene

  • Plays a role in phosphate homeostasis. Mediates phosphate export from the cell (PubMed:25938945). May function in G-protein coupled signal transduction (By similarity).

No data available for Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for XPR1 Gene

Genomics for XPR1 Gene

Regulatory Elements for XPR1 Gene

Enhancers for XPR1 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around XPR1 on UCSC Golden Path with GeneCards custom track

Promoters for XPR1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around XPR1 on UCSC Golden Path with GeneCards custom track

Genomic Location for XPR1 Gene

Chromosome:
1
Start:
180,632,004 bp from pter
End:
180,890,279 bp from pter
Size:
258,276 bases
Orientation:
Plus strand

Genomic View for XPR1 Gene

Genes around XPR1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
XPR1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for XPR1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for XPR1 Gene

Proteins for XPR1 Gene

  • Protein details for XPR1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UBH6-XPR1_HUMAN
    Recommended name:
    Xenotropic and polytropic retrovirus receptor 1
    Protein Accession:
    Q9UBH6
    Secondary Accessions:
    • O95719
    • Q7L8K9
    • Q8IW20
    • Q9NT19
    • Q9UFB9

    Protein attributes for XPR1 Gene

    Size:
    696 amino acids
    Molecular mass:
    81535 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for XPR1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for XPR1 Gene

Proteomics data for XPR1 Gene at MOPED

Post-translational modifications for XPR1 Gene

  • Ubiquitination at Lys 76 and Lys 662
  • Modification sites at PhosphoSitePlus

Other Protein References for XPR1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for XPR1 Gene

Domains & Families for XPR1 Gene

Protein Domains for XPR1 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for XPR1 Gene

Graphical View of Domain Structure for InterPro Entry

Q9UBH6

UniProtKB/Swiss-Prot:

XPR1_HUMAN :
  • Contains 1 EXS domain.
  • Belongs to the SYG1 (TC 2.A.94) family.
Domain:
  • Contains 1 EXS domain.
  • Contains 1 SPX domain.
Family:
  • Belongs to the SYG1 (TC 2.A.94) family.
genes like me logo Genes that share domains with XPR1: view

No data available for Gene Families for XPR1 Gene

Function for XPR1 Gene

Molecular function for XPR1 Gene

GENATLAS Biochemistry:
xenotropic and polytropic retrovirus receptor 1,widely expressed,potentially involved in G protein-coupled signal transduction
UniProtKB/Swiss-Prot Function:
Plays a role in phosphate homeostasis. Mediates phosphate export from the cell (PubMed:25938945). May function in G-protein coupled signal transduction (By similarity).

Gene Ontology (GO) - Molecular Function for XPR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004872 receptor activity TAS 9988277
genes like me logo Genes that share ontologies with XPR1: view
genes like me logo Genes that share phenotypes with XPR1: view

Human Phenotype Ontology for XPR1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

  • Taconic Biosciences Mouse Models for XPR1

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for XPR1 Gene

Localization for XPR1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for XPR1 Gene

Cell membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for XPR1 Gene COMPARTMENTS Subcellular localization image for XPR1 gene
Compartment Confidence
plasma membrane 5
golgi apparatus 3
peroxisome 2
nucleus 1

No data available for Gene Ontology (GO) - Cellular Components for XPR1 Gene

Pathways & Interactions for XPR1 Gene

SuperPathways for XPR1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for XPR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0009615 response to virus IEA --
genes like me logo Genes that share ontologies with XPR1: view

No data available for Pathways by source and SIGNOR curated interactions for XPR1 Gene

Drugs & Compounds for XPR1 Gene

No Compound Related Data Available

Transcripts for XPR1 Gene

Unigene Clusters for XPR1 Gene

Xenotropic and polytropic retrovirus receptor 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for XPR1 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15
SP1:
SP2: -

Relevant External Links for XPR1 Gene

GeneLoc Exon Structure for
XPR1
ECgene alternative splicing isoforms for
XPR1

Expression for XPR1 Gene

mRNA expression in normal human tissues for XPR1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for XPR1 Gene

This gene is overexpressed in Heart - Left Ventricle (x4.8).

Protein differential expression in normal tissues from HIPED for XPR1 Gene

This gene is overexpressed in Nasal epithelium (60.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for XPR1 Gene



SOURCE GeneReport for Unigene cluster for XPR1 Gene Hs.227656

mRNA Expression by UniProt/SwissProt for XPR1 Gene

Q9UBH6-XPR1_HUMAN
Tissue specificity: Widely expressed. Detected in spleen, lymph node, thymus, leukocytes, bone marrow, heart, kidney, pancreas and skeletal muscle.
genes like me logo Genes that share expression patterns with XPR1: view

Primer Products

No data available for Protein tissue co-expression partners for XPR1 Gene

Orthologs for XPR1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for XPR1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia XPR1 35
  • 95.31 (n)
  • 96.26 (a)
XPR1 36
  • 91 (a)
OneToOne
dog
(Canis familiaris)
Mammalia XPR1 35
  • 95.26 (n)
  • 98.13 (a)
XPR1 36
  • 98 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Xpr1 35
  • 92.47 (n)
  • 95.4 (a)
Xpr1 16
Xpr1 36
  • 95 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia XPR1 35
  • 99.71 (n)
  • 100 (a)
XPR1 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Xpr1 35
  • 92.62 (n)
  • 95.98 (a)
oppossum
(Monodelphis domestica)
Mammalia XPR1 36
  • 85 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia XPR1 36
  • 89 (a)
OneToOne
chicken
(Gallus gallus)
Aves XPR1 35
  • 78.61 (n)
  • 83.88 (a)
XPR1 36
  • 84 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia XPR1 36
  • 89 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia xpr1 35
  • 74.76 (n)
  • 85.84 (a)
zebrafish
(Danio rerio)
Actinopterygii si:dkey-6n6.7 35
  • 72.75 (n)
  • 80.29 (a)
xpr1 36
  • 80 (a)
OneToMany
XPR1 (1 of 2) 36
  • 80 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG10481 37
  • 33 (a)
CG10483 37
  • 55 (a)
CG2901 37
  • 40 (a)
CG7536 37
  • 56 (a)
CG10483 35
  • 57.98 (n)
  • 56.63 (a)
CG10481 36
  • 38 (a)
OneToMany
CG10483 36
  • 54 (a)
OneToMany
CG2901 36
  • 40 (a)
OneToMany
CG7536 36
  • 56 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005557 35
  • 58.88 (n)
  • 57.17 (a)
worm
(Caenorhabditis elegans)
Secernentea Y39A1A.22 37
  • 46 (a)
Y39A1A.22 36
  • 46 (a)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ADL080W 35
  • 43.44 (n)
  • 31.99 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F27467g 35
  • 41.62 (n)
  • 31.26 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SYG1 35
  • 42.69 (n)
  • 32.06 (a)
SYG1 36
  • 22 (a)
OneToOne
SYG1 38
thale cress
(Arabidopsis thaliana)
eudicotyledons PHO1;H1 35
  • 45.6 (n)
  • 34.72 (a)
rice
(Oryza sativa)
Liliopsida Os06g0493600 35
  • 45.97 (n)
  • 33.54 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU04201 35
  • 43.2 (n)
  • 33.47 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPCC1827.07c 35
  • 44.56 (n)
  • 30.32 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 49 (a)
OneToOne
Species with no ortholog for XPR1:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for XPR1 Gene

ENSEMBL:
Gene Tree for XPR1 (if available)
TreeFam:
Gene Tree for XPR1 (if available)

Paralogs for XPR1 Gene

No data available for Paralogs for XPR1 Gene

Variants for XPR1 Gene

Sequence variations from dbSNP and Humsavar for XPR1 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs1061012 - 180,836,686(+) TGGTG(A/G)CGTTT intron-variant, reference, missense
VAR_073840 Basal ganglia calcification, idiopathic, 6 (IBGC6)
VAR_073841 Basal ganglia calcification, idiopathic, 6 (IBGC6)
VAR_073842 Basal ganglia calcification, idiopathic, 6 (IBGC6)
VAR_073843 Basal ganglia calcification, idiopathic, 6 (IBGC6)

Structural Variations from Database of Genomic Variants (DGV) for XPR1 Gene

Variant ID Type Subtype PubMed ID
nsv872578 CNV Gain 21882294
esv1216422 CNV Insertion 17803354
esv988017 CNV Deletion 20482838
esv2673886 CNV Deletion 23128226
esv267829 CNV Insertion 20981092
nsv3777 CNV Loss 18451855
esv2676627 CNV Deletion 23128226
nsv498695 CNV Loss 21111241
esv22705 CNV Loss 19812545
esv1112679 CNV Insertion 17803354
nsv159447 CNV Insertion 16902084
esv2452119 CNV Insertion 19546169
esv270103 CNV Insertion 20981092
esv273579 CNV Insertion 20981092

Variation tolerance for XPR1 Gene

Residual Variation Intolerance Score: 5.33% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.81; 17.10% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for XPR1 Gene

HapMap Linkage Disequilibrium report
XPR1
Human Gene Mutation Database (HGMD)
XPR1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for XPR1 Gene

Disorders for XPR1 Gene

MalaCards: The human disease database

(4) MalaCards diseases for XPR1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
basal ganglia calcification, idiopathic, 6
  • basal ganglia calcification, idiopathic 6
primary familial brain calcification
  • idiopathic basal ganglia calcification
basal ganglia calcification
  • childhood-onset idiopathic basal ganglia calcification
nodular malignant melanoma
  • nodular melanoma
- elite association - COSMIC cancer census association via MalaCards
Search XPR1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

XPR1_HUMAN
  • Basal ganglia calcification, idiopathic, 6 (IBGC6) [MIM:616413]: A 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. {ECO:0000269 PubMed:25938945}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for XPR1

Genetic Association Database (GAD)
XPR1
Human Genome Epidemiology (HuGE) Navigator
XPR1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
XPR1
genes like me logo Genes that share disorders with XPR1: view

No data available for Genatlas for XPR1 Gene

Publications for XPR1 Gene

  1. A human cell-surface receptor for xenotropic and polytropic murine leukemia viruses: possible role in G protein-coupled signal transduction. (PMID: 9990033) Battini J.-L. … Miller A.D. (Proc. Natl. Acad. Sci. U.S.A. 1999) 2 3 4 23 67
  2. Temporal proteomics of NGF-TrkA signaling identifies an inhibitory role for the E3 ligase Cbl-b in neuroblastoma cell differentiation. (PMID: 25921289) Emdal K.B. … Olsen J.V. (Sci Signal 2015) 3
  3. Mutations in XPR1 cause primary familial brain calcification associated with altered phosphate export. (PMID: 25938945) Legati A. … Coppola G. (Nat. Genet. 2015) 3
  4. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  5. A human interactome in three quantitative dimensions organized by stoichiometries and abundances. (PMID: 26496610) Hein M.Y. … Mann M. (Cell 2015) 3

Products for XPR1 Gene

Sources for XPR1 Gene

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