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XPR1 xenotropic and polytropic retrovirus receptor 1 [ Homo sapiens (human) ]

Gene ID: 9213, updated on 18-Sep-2024

Summary

Official Symbol
XPR1provided by HGNC
Official Full Name
xenotropic and polytropic retrovirus receptor 1provided by HGNC
Primary source
HGNC:HGNC:12827
See related
Ensembl:ENSG00000143324 MIM:605237; AllianceGenome:HGNC:12827
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
X3; SYG1; IBGC6; SLC53A1
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]
Expression
Ubiquitous expression in heart (RPKM 12.0), testis (RPKM 8.5) and 24 other tissues See more
Orthologs
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Genomic context

See XPR1 in Genome Data Viewer
Location:
1q25.3
Exon count:
15
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (180632022..180890279)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (179987035..180245477)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (180601158..180859415)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene acyl-CoA binding domain containing 6 Neighboring gene microRNA 3121 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:180470119-180470634 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:180470635-180471150 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:180471258-180471758 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2164 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr1:180490465-180491664 Neighboring gene uncharacterized LOC124904658 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:180540570-180541769 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:180555052-180555235 Neighboring gene CRISPRi-validated cis-regulatory element chr1.10130 Neighboring gene ovarian adenocarcinoma amplified long non-coding RNA Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:180601022-180601522 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:180601523-180602023 Neighboring gene MPRA-validated peak486 silencer Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:180679967-180680667 Neighboring gene uncharacterized LOC124904687 Neighboring gene MPRA-validated peak488 silencer Neighboring gene MPRA-validated peak489 silencer Neighboring gene uncharacterized LOC124904464 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:180866978-180867370 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:180868044-180868872 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1596 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2165 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:180892213-180893094 Neighboring gene long intergenic non-protein coding RNA 2816 Neighboring gene uncharacterized LOC107985231 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:180910063-180911042 Neighboring gene KIAA1614

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Basal ganglia calcification, idiopathic, 6 Compare labs

EBI GWAS Catalog

Description
Rank-based genome-wide analysis reveals the association of ryanodine receptor-2 gene variants with childhood asthma among human populations.
EBI GWAS Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Clone Names

  • FLJ90308

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables efflux transmembrane transporter activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
enables inositol hexakisphosphate binding IBA
Inferred from Biological aspect of Ancestor
more info
 
enables inositol hexakisphosphate binding IDA
Inferred from Direct Assay
more info
PubMed 
enables phosphate transmembrane transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
 
enables phosphate transmembrane transporter activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
enables virus receptor activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
involved_in cellular response to phosphate starvation IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in intracellular phosphate ion homeostasis IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in phosphate ion transmembrane transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in phosphate ion transport IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in response to virus IEA
Inferred from Electronic Annotation
more info
 
involved_in symbiont entry into host cell IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
solute carrier family 53 member 1
Names
X-receptor
phosphate exporter SLC53A1
protein SYG1 homolog
solute carrier family 53 (phosphate exporter), member 1
xenotropic and polytropic murine leukemia virus receptor X3

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_050964.1 RefSeqGene

    Range
    5013..263270
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001135669.2NP_001129141.1  solute carrier family 53 member 1 isoform 2

    See identical proteins and their annotated locations for NP_001129141.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1.
    Source sequence(s)
    AA425354, AL162431, BC041142, DB461474
    Consensus CDS
    CCDS44284.1
    UniProtKB/Swiss-Prot
    Q9UBH6
    Related
    ENSP00000356561.3, ENST00000367589.3
    Conserved Domains (2) summary
    cd14477
    Location:2165
    SPX_XPR1_like; SPX domain of the xenotropic and polytropic retrovirus receptor 1 (XPR1) and related proteins
    pfam03124
    Location:268552
    EXS; EXS family
  2. NM_001328662.2NP_001315591.1  solute carrier family 53 member 1 isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 3' UTR and coding sequence compared to variant 1. The resulting isoform (3) has a shorter and distinct C-terminus compared to isoform 1.
    Source sequence(s)
    AL358434, AL590085
  3. NM_004736.4NP_004727.2  solute carrier family 53 member 1 isoform 1

    See identical proteins and their annotated locations for NP_004727.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AA425354, AF115389, AL162431, BC041142, DB461474
    Consensus CDS
    CCDS1340.1
    UniProtKB/Swiss-Prot
    O95719, Q7L8K9, Q8IW20, Q9NT19, Q9UBH6, Q9UFB9
    Related
    ENSP00000356562.4, ENST00000367590.9
    Conserved Domains (2) summary
    cd14477
    Location:2165
    SPX_XPR1_like; SPX domain of the xenotropic and polytropic retrovirus receptor 1 (XPR1) and related proteins
    pfam03124
    Location:268617
    EXS; EXS family

RNA

  1. NR_137330.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) lacks two alternate exons compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AL162431, AL358434, AL590085

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    180632022..180890279
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    179987035..180245477
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)