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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] See more...
Aliases for XPR1 Gene
Aliases for XPR1 Gene
External Ids for XPR1 Gene
- HGNC: 12827
- Entrez Gene: 9213
- Ensembl: ENSG00000143324
- OMIM: 605237
- UniProtKB: Q9UBH6
Previous GeneCards Identifiers for XPR1 Gene
- GC01P178125
- GC01P176029
- GC01P177121
- GC01P177840
- GC01P177332
- GC01P178867
- GC01P180601
- GC01P151831
Summaries for XPR1 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 associated with idiopathic basal ganglia calcification-6. [provided by RefSeq, Jun 2016]
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 Basal Ganglia Calcification, Idiopathic, 1. Gene Ontology (GO) annotations related to this gene include G protein-coupled receptor activity and transmembrane signaling receptor activity.
UniProtKB/Swiss-Prot Summary for XPR1 Gene
-
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).
Additional gene information for XPR1 Gene
- HGNC(12827)
- Entrez Gene(9213)
- Ensembl(ENSG00000143324)
- OMIM(605237)
- UniProtKB(Q9UBH6)
- Open Targets Platform(ENSG00000143324)
- Monarch Initiative
- Search for XPR1 at DataMed
- Search for XPR1 at HumanCyc
No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for XPR1 Gene
Genomics for XPR1 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for XPR1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around XPR1 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for XPR1
- Top Transcription factor binding sites by QIAGEN in the XPR1 gene promoter:
-
- AP-1
- ATF-2
- c-Jun
- p53
- POU2F1
- STAT3
Genomic Locations for XPR1 Gene
Genomic Locations for XPR1 Gene
- chr1:180,632,022-180,890,279
- (GRCh38/hg38)
- Size:
- 258,258 bases
- Orientation:
- Plus strand
- chr1:180,601,140-180,859,415
- (GRCh37/hg19)
- 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:
-
- 1q25.3 by HGNC
- 1q25.3 by Entrez Gene
- 1q25.3 by Ensembl
XPR1 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- O95719
- Q7L8K9
- Q8IW20
- Q9NT19
- Q9UFB9
Protein attributes for XPR1 Gene
- Size:
- 696 amino acids
- Molecular mass:
- 81535 Da
- Quaternary structure:
- No Data Available
Protein Expression for XPR1 Gene
Post-translational modifications for XPR1 Gene
Other Protein References for XPR1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- LifeSpan BioSciences XPR1 Antibody (LS-A2674) and XPR1 Antibody (LS-A2672)
- GeneTex Anti-XPR1 antibody [N1], N-term
-
Custom Antibody ServicesOriGene Antibodies for XPR1
- Novus Biologicals Antibodies for XPR1
- Invitrogen Antibodies for XPR1 (AFLGC-Xpr1)
-
Boster Bio Antibodies for XPR1
Protein Products
-
OriGene Purified Proteins for XPR1
- Search Origene for MassSpec and Protein Over-expression Lysates for XPR1
- Origene Custom Protein Services for XPR1
- antibodies-online: Show 6 available xpr1 Proteins ranked by validation data
- Compare Top xpr1 Proteins
-
Quality Products:
-
Abcam proteins for XPR1
Assay Products
- antibodies-online: Show 4 available xpr1 Elisa Kits ranked by validation data
- Compare Top xpr1 Elisa Kits
-
Quality Products:
No data available for DME Specific Peptides for XPR1 Gene
Domains & Families for XPR1 Gene
Gene Families for XPR1 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Disease related genes
- Predicted membrane proteins
Protein Domains for XPR1 Gene
Suggested Antigen Peptide Sequences for XPR1 Gene
- GenScript: Design optimal peptide antigens:
-
- Xenotropic and polytropic murine leukemia virus receptor X3 (XPR1_HUMAN)
Graphical View of Domain Structure for InterPro Entry
Q9UBH6UniProtKB/Swiss-Prot:
XPR1_HUMAN :- 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.
- Belongs to the SYG1 (TC 2.A.94) family.
- Domain:
-
- 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.
- Family:
-
- Belongs to the SYG1 (TC 2.A.94) family.
Function for XPR1 Gene
Molecular function for XPR1 Gene
- UniProtKB/Swiss-Prot Function:
- 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).
- GENATLAS Biochemistry:
- xenotropic and polytropic retrovirus receptor 1,widely expressed,potentially involved in G protein-coupled signal transduction
Phenotypes From GWAS Catalog for XPR1 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000822 | inositol hexakisphosphate binding | IDA | 27080106 |
| GO:0001618 | virus receptor activity | IMP | 23791524 |
| GO:0004888 | transmembrane signaling receptor activity | TAS | 9927670 |
| GO:0004930 | G protein-coupled receptor activity | TAS | 9990033 |
| GO:0015114 | phosphate ion transmembrane transporter activity | IMP | 23791524 |
Phenotypes for XPR1 Gene
- MGI mutant phenotypes for XPR1:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for XPR1:
-
- no effect
- Synthetic lethal with MLN4924 (a NAE inhibitor)
- Increased viability with MLN4924 (a NAE inhibitor)
- Decreased vaccinia virus (VACV) infection
- shRNA abundance <= 50%
- Decreased shRNA abundance (Z-score < -2)
- shRNA abundance <= 25%
- Increased transferrin (TF) endocytosis
- Increased shRNA abundance (Z-score > 2)
Animal Model Products
-
Taconic Biosciences Mouse Models for XPR1
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for XPR1 - Select products 50% OFF >
- * XPR1 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for XPR1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for XPR1
-
Santa Cruz Biotechnology (SCBT) CRISPR for XPR1
miRNA for XPR1 Gene
- miRTarBase miRNAs that target XPR1
-
- mmu-miR-758-3p (MIRT007604)
- mmu-miR-425-5p (MIRT008585)
- mmu-miR-362-5p (MIRT008972)
- mmu-miR-223-3p (MIRT009619)
- mmu-miR-340-5p (MIRT010475)
- mmu-miR-34b-5p (MIRT012740)
- mmu-miR-30e-5p (MIRT013412)
- mmu-miR-24-3p (MIRT013836)
- hsa-miR-375 (MIRT019868)
- hsa-miR-7-5p (MIRT025774)
- hsa-miR-320b (MIRT036185)
- hsa-miR-455-3p (MIRT037822)
- hsa-miR-382-5p (MIRT060847)
- hsa-miR-32-5p (MIRT131815)
- hsa-miR-92a-3p (MIRT131816)
- hsa-miR-205-5p (MIRT131817)
- hsa-miR-92b-3p (MIRT131821)
- hsa-miR-493-3p (MIRT439275)
- hsa-miR-155-5p (MIRT443354)
- hsa-miR-5189-3p (MIRT443355)
- hsa-miR-365b-3p (MIRT443356)
- hsa-miR-365a-3p (MIRT443357)
- hsa-miR-513c-3p (MIRT443358)
- hsa-miR-513a-3p (MIRT443359)
- hsa-miR-3606-3p (MIRT443360)
- hsa-miR-6818-3p (MIRT497478)
- hsa-miR-4713-5p (MIRT497479)
- hsa-miR-1251-3p (MIRT497480)
- hsa-miR-2116-3p (MIRT497481)
- hsa-miR-532-3p (MIRT497482)
- hsa-miR-150-5p (MIRT497483)
- hsa-miR-6814-5p (MIRT497484)
- hsa-miR-6796-3p (MIRT497485)
- mmu-miR-466l-5p (MIRT579942)
- mmu-miR-466i-5p (MIRT579943)
- mmu-miR-466d-5p (MIRT579944)
- mmu-miR-466k (MIRT579945)
- mmu-miR-298-5p (MIRT579946)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for XPR1
- Browse OriGene Inhibitory RNA Products For XPR1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for XPR1
Clone Products
- Applied Biological Materials (abm): Clones for XPR1 - Select products 50% OFF >
- * XPR1 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for XPR1
- Addgene plasmids for XPR1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for XPR1
Cell Line Products
-
Horizon Cell Lines 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.
| Compartment | Confidence |
|---|---|
| plasma membrane | 5 |
| golgi apparatus | 3 |
| extracellular | 2 |
| nucleus | 2 |
| cytoskeleton | 1 |
| mitochondrion | 1 |
| peroxisome | 1 |
| endoplasmic reticulum | 1 |
| endosome | 1 |
| cytosol | 1 |
| lysosome | 1 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005623 | cell | IEA | -- |
| GO:0005737 | cytoplasm | IBA | 21873635 |
| GO:0005794 | Golgi apparatus | IBA | 21873635 |
| GO:0005886 | plasma membrane | IBA | 21873635 |
| GO:0016020 | membrane | IEA | -- |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for XPR1 Gene
Pathways & Interactions for XPR1 Gene
Interacting Proteins for XPR1 Gene
GPS-Prot Interaction Network for XPR1
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006817 | phosphate ion transport | IBA | 21873635 |
| GO:0007186 | G protein-coupled receptor signaling pathway | TAS | 9990033 |
| GO:0009615 | response to virus | IEA | -- |
| GO:0016036 | cellular response to phosphate starvation | IBA | 21873635 |
| GO:0030643 | cellular phosphate ion homeostasis | IMP | 20068231 |
No data available for Pathways by source and SIGNOR curated interactions for XPR1 Gene
Transcripts for XPR1 Gene
mRNA/cDNA for XPR1 Gene
- 3 REFSEQ mRNAs :
- 13 NCBI additional mRNA sequence :
- 5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000367589 4126 nts (view in UCSC)
- ENST00000367590 8484 nts (view in UCSC)
- ENST00000464817 567 nts (view in UCSC)
- ENST00000467345 736 nts (view in UCSC)
- ENST00000498177 485 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for XPR1 - Select products 50% OFF >
- * XPR1 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for XPR1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for XPR1
-
Santa Cruz Biotechnology (SCBT) CRISPR for XPR1
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for XPR1
- Browse OriGene Inhibitory RNA Products For XPR1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for XPR1
Clone Products
- Applied Biological Materials (abm): Clones for XPR1 - Select products 50% OFF >
- * XPR1 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for XPR1
- Addgene plasmids for XPR1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for XPR1
| 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
Expression for XPR1 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
- Neural Tube (Nervous System)
- Eye (Sensory Organs)
- Brain (Nervous System)
- Neurons
-
Spinal Cord (Nervous System)
-
Testis (Reproductive System)
-
Heart (Cardiovascular System)
mRNA differential expression in normal tissues according to GTEx for XPR1 Gene
This gene is overexpressed in Heart - Left Ventricle (x4.8).
This gene is overexpressed in Nasal epithelium (60.7).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for XPR1 Gene
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for XPR1
SOURCE GeneReport for Unigene cluster for XPR1 Gene:
Hs.227656mRNA 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.
Evidence on tissue expression from TISSUES for XPR1 Gene
- Nervous system(4.5)
- Blood(4.3)
- Liver(2.5)
- Kidney(2.4)
- Muscle(2.3)
- Heart(2.2)
Phenotype-based relationships between genes and organs from Gene ORGANizer for XPR1 Gene
Germ Layers:
- ectoderm
- endoderm
- mesoderm
Systems:
- cardiovascular
- digestive
- integumentary
- nervous
- respiratory
- skeletal muscle
- skeleton
- urinary
Regions:
Head and neck:
- brain
- cerebellum
- cranial nerve
- ear
- eye
- face
- head
- mouth
- skull
- tongue
Thorax:
- diaphragm
- lung
Abdomen:
- liver
Pelvis:
- prostate
- urinary bladder
Limb:
- arm
- digit
- finger
- foot
- hand
- lower limb
- toe
- upper limb
General:
- blood
- blood vessel
- coagulation system
- peripheral nerve
- peripheral nervous system
- skin
- spinal cord
Primer Products
-
OriGene qPCR primer pairs for XPR1
Gene Expression Assay 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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | XPR1 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | XPR1 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | XPR1 30 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Xpr1 30 |
|
||
| Mouse (Mus musculus) |
Mammalia | Xpr1 30 17 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | XPR1 31 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | XPR1 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | XPR1 30 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | XPR1 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | xpr1 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | xpr1 31 |
|
OneToMany | |
| XPR1 (1 of 2) 31 |
|
OneToMany | |||
| si:dkey-6n6.7 30 |
|
||||
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP005557 30 |
|
||
| Fruit Fly (Drosophila melanogaster) |
Insecta | CG10483 30 31 32 |
|
OneToMany | |
| CG7536 31 32 |
|
OneToMany | |||
| CG2901 31 32 |
|
OneToMany | |||
| CG10481 31 32 |
|
OneToMany | |||
| Worm (Caenorhabditis elegans) |
Secernentea | Y39A1A.22 31 32 |
|
OneToOne | |
| A. gosspyii yeast (Eremothecium gossypii) |
Saccharomycetes | AGOS_ADL080W 30 |
|
||
| Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | SYG1 30 31 33 |
|
OneToOne | |
| K. Lactis Yeast (Kluyveromyces lactis) |
Saccharomycetes | KLLA0F27467g 30 |
|
||
| Thale Cress (Arabidopsis thaliana) |
eudicotyledons | PHO1;H1 30 |
|
||
| Rice (Oryza sativa) |
Liliopsida | Os06g0493600 30 |
|
||
| Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToOne | |
| Fission Yeast (Schizosaccharomyces pombe) |
Schizosaccharomycetes | SPCC1827.07c 30 |
|
||
| Bread mold (Neurospora crassa) |
Ascomycetes | NCU04201 30 |
|
- Species where no ortholog for XPR1 was found in the sources mined by GeneCards:
-
- 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 Vase (Ciona intestinalis)
- 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)
- Aminode:
- Evolutionary constrained regions (ECRs) for XPR1: view image
Paralogs for XPR1 Gene
No data available for Paralogs for XPR1 Gene
Variants for XPR1 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for XPR1 Gene
| SNP ID | Clinical significance and condition | Chr 01 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 718143 | Benign: not provided | 180,824,910(+) | G/A | NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT | |
| 726176 | Likely Benign: not provided | 180,880,290(+) | G/A | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT | |
| 731311 | Likely Benign: not provided | 180,835,002(+) | C/T | SYNONYMOUS_VARIANT | |
| 735415 | Likely Benign: not provided | 180,873,817(+) | T/C | NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT | |
| 738788 | Likely Benign: not provided | 180,880,217(+) | T/C | NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| dgv229n106 | CNV | deletion | 24896259 |
| dgv657n54 | CNV | loss | 21841781 |
| esv1112679 | CNV | insertion | 17803354 |
| esv1216422 | CNV | insertion | 17803354 |
| esv22705 | CNV | loss | 19812545 |
| esv2452119 | CNV | insertion | 19546169 |
| esv2673886 | CNV | deletion | 23128226 |
| esv2676627 | CNV | deletion | 23128226 |
| esv3303550 | CNV | mobile element insertion | 20981092 |
| esv3397949 | CNV | insertion | 20981092 |
| esv3439699 | CNV | insertion | 20981092 |
| esv3543333 | CNV | deletion | 23714750 |
| esv3588073 | CNV | loss | 21293372 |
| esv3890804 | CNV | gain | 25118596 |
| esv988017 | CNV | deletion | 20482838 |
| nsv1003359 | CNV | gain | 25217958 |
| nsv1069123 | CNV | deletion | 25765185 |
| nsv1113197 | CNV | deletion | 24896259 |
| nsv1113198 | CNV | deletion | 24896259 |
| nsv1139510 | CNV | duplication | 24896259 |
| nsv159447 | CNV | insertion | 16902084 |
| nsv3777 | CNV | deletion | 18451855 |
| nsv498695 | CNV | loss | 21111241 |
| nsv548346 | CNV | loss | 21841781 |
| nsv548355 | CNV | loss | 21841781 |
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)
Additional Variant Information for XPR1 Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for XPR1 Gene
Disorders for XPR1 Gene
(7) MalaCards diseases for XPR1 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| basal ganglia calcification, idiopathic, 6 |
|
|
| basal ganglia calcification, idiopathic, 1 |
|
|
| basal ganglia calcification |
|
|
| leukemia |
|
|
| basal ganglia disease |
|
|
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.
Additional Disease Information for XPR1
- Genetic Association Database
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No data available for Genatlas for XPR1 Gene
Publications for XPR1 Gene
- A human cell-surface receptor for xenotropic and polytropic murine leukemia viruses: possible role in G protein-coupled signal transduction. (PMID: 9990033) Battini JL … Miller AD (Proceedings of the National Academy of Sciences of the United States of America 1999) 2 3 4 23
- Control of eukaryotic phosphate homeostasis by inositol polyphosphate sensor domains. (PMID: 27080106) Wild R … Mayer A (Science (New York, N.Y.) 2016) 3 4
- Mutations in XPR1 cause primary familial brain calcification associated with altered phosphate export. (PMID: 25938945) Legati A … Coppola G (Nature genetics 2015) 3 4
- Inorganic phosphate export by the retrovirus receptor XPR1 in metazoans. (PMID: 23791524) Giovannini D … Battini JL (Cell reports 2013) 3 4
- Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 41
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