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

Summary

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, Dec 2024]
Expression: Restricted expression toward kidney (RPKM 52.9) See more
Orthologs: mouse all
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Genomic context

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_000006.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
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].
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.
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.
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.
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.
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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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

NoName (e-PCR)
- UniSTS:480778

D6S2293 (e-PCR)
- UniSTS:54545

D6S2237 (e-PCR)
- UniSTS:239128

G29215 (e-PCR)
- UniSTS:30003

D6S985 (e-PCR)
- UniSTS:149816

D6S2054 (e-PCR)
- UniSTS:15719

RH80887 (e-PCR)
- UniSTS:88984

NoName (e-PCR)
- UniSTS:485609

D6S2386 (e-PCR)
- UniSTS:76271

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)

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

NC_000006.12 Reference GRCh38.p14 Primary Assembly

Range

25723743..25832052 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
XM_011514818.3 → XP_011513120.3 sodium-dependent phosphate transport protein 1 isoform X2
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
XM_011514819.3 → XP_011513121.3 sodium-dependent phosphate transport protein 1 isoform X3
XM_011514820.3 → XP_011513122.3 sodium-dependent phosphate transport protein 1 isoform X4

Related

ENSP00000420546.1, ENST00000468082.1
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

NC_060930.1 Alternate T2T-CHM13v2.0

Range

25589510..25697845 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054356245.1 → XP_054212220.1 sodium-dependent phosphate transport protein 1 isoform X1
XM_054356246.1 → XP_054212221.1 sodium-dependent phosphate transport protein 1 isoform X2
XM_054356249.1 → XP_054212224.1 sodium-dependent phosphate transport protein 1 isoform X5
XM_054356247.1 → XP_054212222.1 sodium-dependent phosphate transport protein 1 isoform X3
XM_054356248.1 → XP_054212223.1 sodium-dependent phosphate transport protein 1 isoform X4
XM_054356244.1 → XP_054212219.1 sodium-dependent phosphate transport protein 1 isoform X1