XPR1 - xenotropic and polytropic retrovirus receptor 1 Gene

Homo sapiens

Also known as X3; SYG1; IBGC6; SLC53A1

Gene ID: 9213 | Gene type: protein coding

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	Reference	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	Reference	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	Reference	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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS15895	XPR1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	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

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