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XPR1 - xenotropic and polytropic retrovirus receptor 1 Gene

Also Known as X3; SYG1; IBGC6; SLC53A1

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 9213

About XPR1

Cytogenetic location: 1q25.3 Genomic coordinates (GRCh38): 1:180,632,022-180,890,279 (from NCBI)

This gene has 5 transcripts (splice variants), 194 orthologues and is associated with 2 phenotypes. Ubiquitous expression in heart (RPKM 12.0), testis (RPKM 8.5) and 24 other tissues.

Summary

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]

XPR1 Products (3)

mRNA	Protein	Name
NM_001135669.2	NP_001129141.1	xenotropic and polytropic retrovirus receptor 1 isoform 2
NM_001328662.2	NP_001315591.1	xenotropic and polytropic retrovirus receptor 1 isoform 3
NM_004736.4	NP_004727.2	xenotropic and polytropic retrovirus receptor 1 isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables efflux transmembrane transporter activity	IMP IMP: Inferred from mutant phenotype	23791524	GOA
enables inositol hexakisphosphate binding	IDA IDA: Inferred from direct assay	27080106	GOA
enables phosphate transmembrane transporter activity	IMP IMP: Inferred from mutant phenotype	23791524	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in intracellular phosphate ion homeostasis	IMP IMP: Inferred from mutant phenotype	20068231	GOA
involved in phosphate ion transmembrane transport	IMP IMP: Inferred from mutant phenotype	23791524	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in plasma membrane	IDA IDA: Inferred from direct assay	23791524	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

XPR1 Protein Structure

SPX

EXS

0
200
400
600
696 a.a.

Protein Preferred Names	Protein Names
xenotropic and polytropic retrovirus receptor 1	X-receptor

Related Diseases

Diseases	Alias
Basal Ganglia Calcification, Idiopathic, 6	IBGC6 Calcification, Basal Ganglia, Idiopathic, Type 6
Basal Ganglia Calcification, Idiopathic, 1	Primary Familial Brain Calcification Pfbc Bspdc Bilateral Striopallidodentate Calcinosis Cerebrovascular Ferrocalcinosis IBGC1 Familial Idiopathic Basal Ganglia Calcification Idiopathic Basal Ganglia Calcification 1 Striopallidodentate Calcinosis, Bilateral Striopallidodentate Calcinosis, Autosomal Dominant, Adult-Onset Cerebral Calcification, Nonarteriosclerotic, Idiopathic, Adult-Onset Ferrocalcinosis, Cerebrovascular Fahr Disease, Familial, Formerly Basal Ganglia Calcification, Idiopathic, 3, Formerly Ibgc3, Formerly Basal Ganglia Calcification, Idiopathic, 2, Formerly Ibgc2, Formerly Fibgc Striopallidodentate Calcinosis Idiopathic Basal Ganglia Calcification Ferrocalcinosis Cerebro Vascular Autosomal Dominant Adult-Onset Striopallidodentate Calcinosis Familial Fahr Disease Ibgc2 Ibgc3 Idiopathic Basal Ganglia Calcification 2 Idiopathic Basal Ganglia Calcification 3 Non-Arteriosclerotic, Idiopathic, Adult-Onset Cerebral Calcification Basal Ganglia Calcification, Idiopathic Calcification, Basal Ganglia, Idiopathic Calcification, Basal Ganglia, Idiopathic, Type 1 Fahr'S Syndrome
Basal Ganglia Calcification	Fahr'S Syndrome Fahr'S Disease Fahr Disease
Leukemia	Leukemias Leukaemia, Unspecified, Without Mention Of Remission Aleukemic Leukaemia Chronic Leukaemia Subacute Leukaemia Leukaemia Disorder Leukaemia Nos
Fanconi Syndrome	Infantile Nephropathic Cystinosis Adult Fanconi Syndrome Congenital Fanconi Syndrome De Toni-Fanconi Syndrome Fanconi-De Toni Syndrome Lignac-Fanconi Syndrome Fanconi Renotubular Syndrome Primary Fanconi Renotubular Syndrome De Toni-Debre-Fanconi Syndrome Adult Fanconi Anemia Detoni Fanconi Syndrome Fanconi-De-Toni Syndrome Primary Fanconi Syndrome Detoni-Debre-Fanconi Syndrome Primary Fanconi Renal Syndrome Fanconi Anemia Cystinosis, Infantile Nephropathic Fanconi-Bickel Syndrome Renal Fanconi Syndrome Lowe-Bickel Syndrome
Kenny-Caffey Syndrome, Type 1	KCS1 Kenny-Caffey Syndrome Type 1 Autosomal Recessive Kenny-Caffey Syndrome Kcs Kenny-Caffey Syndrome, Autosomal Recessive Kenny-Caffey Syndrome 1 Kenny-Caffey Syndrome Autosomal Recessive Kenny-Caffey Syndrome-1
Basal Ganglia Disease	Basal Ganglia Diseases Basal Ganglia Disorders Abnormality Of The Basal Ganglia
Non-Syndromic X-Linked Intellectual Disability 89	Mrx89
Lingual-Facial-Buccal Dyskinesia	Orofacial Dyskinesia Oro-Facial Dyskinesia Dyskinesias
Mental Retardation, X-Linked 92	MRX92 Intellectual Developmental Disorder, X-Linked 92 Non-Syndromic X-Linked Intellectual Disability 92 X-Linked Mental Retardation 92 Mental Retardation, X-Linked, Type 92
Parkinsonism	Parkinsonism-Plus Idiopathic Parkinsonism Primary Parkinsonism Paralysis Agitans Syndrome Parkinsonian Syndrome Trembling Paralysis Paralysis Agitans Shaking Palsy Shaking Paralysis
Chronic Fatigue Syndrome	Myalgic Encephalomyelitis Postviral Fatigue Syndrome Cfs Myalgic Encephalitis Encephalomyelitis, Myalgic Chronic Fatigue Fatigue Syndrome, Chronic Benign Myalgic Encephalomyelitis Akureyri Akureyri Disease Cfs - [Chronic Fatigue Syndrome] Epidemic Neuromyasthenia Myalgic Encephalomyelitis Syndrome Me - [Myalgic Encephalomyelitis] Pvfs - [Postviral Fatigue Syndrome] Neuromyasthenia Iceland Disease Icelandic Disease
Dystonia	Dystonic Disease Dystonic Disorder Dystonia Disorders Neuroleptic Dyskinesia

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-171099	SC-919	Inhibitor	98.68%	Unkown
HY-RS15895	XPR1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	XPR1	VGNC	VGNC:107962
Mus musculus	XPR1	MGD	MGI:97932
Macaca mulatta	XPR1	VGNC	VGNC:100188
Rattus norvegicus	XPR1	RGD	RGD:1306554