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SLC17A1 solute carrier family 17 member 1 [ Homo sapiens (human) ]

Gene ID: 6568, updated on 14-Nov-2024

Summary

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Official Symbol
SLC17A1provided by HGNC
Official Full Name
solute carrier family 17 member 1provided by HGNC
Primary source
HGNC:HGNC:10929
See related
Ensembl:ENSG00000124568 MIM:182308; AllianceGenome:HGNC:10929
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
NPT1; NPT-1; NAPI-1
Summary
Predicted to enable transmembrane transporter activity. Involved in sodium-dependent phosphate transport; urate metabolic process; and urate transport. Located in apical plasma membrane. [provided by Alliance of Genome Resources, Nov 2024]
Expression
Restricted expression toward kidney (RPKM 52.9) See more
Orthologs
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Genomic context

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See SLC17A1 in Genome Data Viewer
Location:
6p22.2
Exon count:
14
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (25723743..25832052, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (25589510..25697845, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (25783143..25832280, complement)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene secretagogin, EF-hand calcium binding protein Neighboring gene uncharacterized LOC124901284 Neighboring gene PRELID1 pseudogene 2 Neighboring gene H2A clustered histone 1 Neighboring gene H2B clustered histone 1 Neighboring gene H2B clustered histone 2, pseudogene Neighboring gene H2A clustered histone 2, pseudogene Neighboring gene solute carrier family 17 member 4 Neighboring gene uncharacterized LOC124901285 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16996 Neighboring gene solute carrier family 17 member 3 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:25882461-25882975 Neighboring gene H2A clustered histone 3, pseudogene

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Examining the Association of Rare Allelic Variants in Urate Transporters SLC22A11, SLC22A13, and SLC17A1 with Hyperuricemia and Gout.
    Title: Examining the Association of Rare Allelic Variants in Urate Transporters SLC22A11, SLC22A13, and SLC17A1 with Hyperuricemia and Gout.
  2. A meta-analysis of all gout with Japanese, Caucasian and NZ Polynesian populations revealed that rs2285340 of SLC22A12 and rs1165196 of SLC17A1 showed a significant association but did not reach a genome-wide significance level.
    Title: GWAS of clinically defined gout and subtypes identifies multiple susceptibility loci that include urate transporter genes.
  3. I269T, a common missense variant of NPT1, might have faster conformation changes than NPT1 wild type in terms of the alternating-access model of transporters, and increases renal urate export in humans.
    Title: Expression of a human NPT1/SLC17A1 missense variant which increases urate export.
  4. Data suggest that single nucleotide polymorphisms (SNPs) of solute carrier family 17 member 1 (SLC17A1) are potential biomarkers for altered cholesterol homeostasis and hyperhomocysteinaemia in Japanese men.
    Title: Genetic variants of SLC17A1 are associated with cholesterol homeostasis and hyperhomocysteinaemia in Japanese men.
  5. Data suggest that single nucleotide polymorphisms (SNPs) rs9467596 and rs2096386 of the solute carrier family 17 (sodium phosphate), member 1 protein (SLC17A1) gene may have a correlation between hyperuricemia and alcohol drinking among Uygur patients.
    Title: [Polymorphisms of SLC17A1 gene and their interaction with alcohol drinking among Uygur patients with hyperuricemia].
  6. Polymorphisms in GCKR, SLC17A1 and SLC22A12 were associated with phenotype gout in Han Chinese males.
    Title: Polymorphisms in GCKR, SLC17A1 and SLC22A12 were associated with phenotype gout in Han Chinese males: a case-control study.
  7. NPT1/SLC17A1 is a renal urate exporter in humans and its common gain-of-function variant decreases the risk of renal underexcretion gout.
    Title: NPT1/SLC17A1 is a renal urate exporter in humans and its common gain-of-function variant decreases the risk of renal underexcretion gout.
  8. NPT1 is responsible for urate excretion under physiological conditions and its impairment is linked with the occurrence of gout. [review]
    Title: Type 1 sodium-dependent phosphate transporter acts as a membrane potential-driven urate exporter.
  9. We observed a clear effect of SLC17A1 genotype on fructose load in Europeans but not Polynesian subgroups.
    Title: Population-specific effects of SLC17A1 genotype on serum urate concentrations and renal excretion of uric acid during a fructose load.
  10. Renal urate transporter SLC17A1 is the third locus associated with gout at a genome-wide level of significance.
    Title: The renal urate transporter SLC17A1 locus: confirmation of association with gout.
Submit: New GeneRIF Correction See all GeneRIFs (20)

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
A genome-wide association study of red blood cell traits using the electronic medical record.
EBI GWAS Catalog
An atlas of genetic influences on human blood metabolites.
EBI GWAS Catalog
Common variants on chromosome 6p22.1 are associated with schizophrenia.
EBI GWAS Catalog
Genome-wide association analyses identify 18 new loci associated with serum urate concentrations.
EBI GWAS Catalog
Identification of a common variant in the TFR2 gene implicated in the physiological regulation of serum iron levels.
EBI GWAS Catalog
Identification of low-frequency variants associated with gout and serum uric acid levels.
EBI GWAS Catalog
Meta-analysis of 28,141 individuals identifies common variants within five new loci that influence uric acid concentrations.
EBI GWAS Catalog
Multiple genetic loci influence serum urate levels and their relationship with gout and cardiovascular disease risk factors.
EBI GWAS Catalog
Novel association to the proprotein convertase PCSK7 gene locus revealed by analysing soluble transferrin receptor (sTfR) levels.
EBI GWAS Catalog
Variants in TF and HFE explain approximately 40% of genetic variation in serum-transferrin levels.
EBI GWAS Catalog

Variation

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See Variation Viewer (GRCh37.p13)

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC126794, MGC126796

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables sodium:phosphate symporter activity TAS
Traceable Author Statement
more info
  
enables transmembrane transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
  
Process Evidence Code Pubs
involved_in monoatomic ion transport TAS
Traceable Author Statement
more info
  
involved_in phosphate ion transmembrane transport IEA
Inferred from Electronic Annotation
more info
  
involved_in phosphate ion transport TAS
Traceable Author Statement
more info
 PubMed 
involved_in sodium ion transmembrane transport IEA
Inferred from Electronic Annotation
more info
  
involved_in sodium-dependent phosphate transport IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in sodium-dependent phosphate transport IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in urate metabolic process IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in urate transport IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in urate transport IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Component Evidence Code Pubs
is_active_in apical plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in apical plasma membrane IDA
Inferred from Direct Assay
more info
 PubMed 
located_in membrane TAS
Traceable Author Statement
more info
 PubMed 
located_in plasma membrane TAS
Traceable Author Statement
more info
  

General protein information

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Preferred Names
sodium-dependent phosphate transport protein 1
Names
Na(+)/PI cotransporter 1
na/Pi-4
renal Na(+)-dependent phosphate cotransporter 1
renal sodium-dependent phosphate transport protein 1
renal sodium-phosphate transport protein 1
sodium phosphate transporter
sodium/phosphate cotransporter 1
sodium/phosphate type I cotransporter
solute carrier family 17 (organic anion transporter), member 1
solute carrier family 17 (sodium phosphate), member 1
solute carrier family 17 (vesicular glutamate transporter), member 1

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.

mRNA and Protein(s)

  1. NM_005074.5 → NP_005065.2  sodium-dependent phosphate transport protein 1

    See identical proteins and their annotated locations for NP_005065.2

    Status: VALIDATED

    Source sequence(s)
    BC101745, BG054690, D28532, DC362172
    Consensus CDS
    CCDS4565.1
    UniProtKB/Swiss-Prot
    A8K418, O60761, Q13783, Q14916, Q3MIP5, Q5MJP8, Q5TB83, Q96KL8
    Related
    ENSP00000244527.4, ENST00000244527.10
    Conserved Domains (2) summary
    cd06174
    Location:73 → 451
    MFS; The Major Facilitator Superfamily (MFS) is a large and diverse group of secondary transporters that includes uniporters, symporters, and antiporters. MFS proteins facilitate the transport across cytoplasmic or internal membranes of a variety of ...
    TIGR00894
    Location:3 → 466
    2A0114euk; Na(+)-dependent inorganic phosphate cotransporter

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_000006.12 Reference GRCh38.p14 Primary Assembly

    Range
    25723743..25832052 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017011201.3 → XP_016866690.2  sodium-dependent phosphate transport protein 1 isoform X1

    UniProtKB/Swiss-Prot
    A8K418, O60761, Q13783, Q14916, Q3MIP5, Q5MJP8, Q5TB83, Q96KL8

  2. XM_011514818.3 → XP_011513120.3  sodium-dependent phosphate transport protein 1 isoform X2

  3. XM_011514821.3 → XP_011513123.1  sodium-dependent phosphate transport protein 1 isoform X5

    Conserved Domains (2) summary
    cd06174
    Location:2 → 380
    MFS; The Major Facilitator Superfamily (MFS) is a large and diverse group of secondary transporters that includes uniporters, symporters, and antiporters. MFS proteins facilitate the transport across cytoplasmic or internal membranes of a variety of ...
    pfam07690
    Location:2 → 339
    MFS_1; Major Facilitator Superfamily

  4. XM_011514819.3 → XP_011513121.3  sodium-dependent phosphate transport protein 1 isoform X3

  5. XM_011514820.3 → XP_011513122.3  sodium-dependent phosphate transport protein 1 isoform X4

    Related
    ENSP00000420546.1, ENST00000468082.1

  6. XM_017011199.2 → XP_016866688.2  sodium-dependent phosphate transport protein 1 isoform X1

    UniProtKB/Swiss-Prot
    A8K418, O60761, Q13783, Q14916, Q3MIP5, Q5MJP8, Q5TB83, Q96KL8
    Related
    ENSP00000420614.1, ENST00000476801.5

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060930.1 Alternate T2T-CHM13v2.0

    Range
    25589510..25697845 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054356245.1 → XP_054212220.1  sodium-dependent phosphate transport protein 1 isoform X1

  2. XM_054356246.1 → XP_054212221.1  sodium-dependent phosphate transport protein 1 isoform X2

  3. XM_054356249.1 → XP_054212224.1  sodium-dependent phosphate transport protein 1 isoform X5

  4. XM_054356247.1 → XP_054212222.1  sodium-dependent phosphate transport protein 1 isoform X3

  5. XM_054356248.1 → XP_054212223.1  sodium-dependent phosphate transport protein 1 isoform X4

  6. XM_054356244.1 → XP_054212219.1  sodium-dependent phosphate transport protein 1 isoform X1

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q14916.2 GenPept UniProtKB/Swiss-Prot:Q14916

Gene LinkOut

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