SLC17A3 solute carrier family 17 member 3 [Homo sapiens (human)] - Gene

Summary

Official Symbol: SLC17A3provided by HGNC
Official Full Name: solute carrier family 17 member 3provided by HGNC
Primary source: HGNC:HGNC:10931
See related: Ensembl:ENSG00000124564 MIM:611034; AllianceGenome:HGNC:10931
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: NPT4; GOUT4; UAQTL4
Summary: The protein encoded by this gene is a voltage-driven transporter that excretes intracellular urate and organic anions from the blood into renal tubule cells. Two transcript variants encoding different isoforms have been found for this gene. The longer isoform is a plasma membrane protein with transporter activity while the shorter isoform localizes to the endoplasmic reticulum. [provided by RefSeq, Aug 2012]
Expression: Restricted expression toward kidney (RPKM 57.7) See more
Orthologs: mouse all
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Genomic context

Location:: 6p22.2

Exon count:: 13

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	6	NC_000006.12 (25844856..25874243, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	6	NC_060930.1 (25710672..25740056, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	6	NC_000006.11 (25845084..25874471, complement)

Chromosome 6 - NC_000006.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: 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?

Brain age estimation at tract group level and its association with daily life measures, cardiac risk factors and genetic variants.
Title: Brain age estimation at tract group level and its association with daily life measures, cardiac risk factors and genetic variants.
SLC17A3 rs9379800 and Ischemic Stroke Susceptibility at the Northern Region of Malaysia.
Title: SLC17A3 rs9379800 and Ischemic Stroke Susceptibility at the Northern Region of Malaysia.
Study used rs548987 of SLC17A3 as a candidate variant of ischemic stroke and performed association analysis in a Chinese population; although rs548987 failed to show significant association with total ischemic stroke and large vessel disease subtype, the C allele of rs548987 showed significant association with small vessel disease subtype of ischemic stroke (OR=0.68, p=0.004).
Title: The homocysteine associated variant rs548987 of SLC17A3 confers susceptibility to ischemic stroke in Chinese population.
hNPT4 (SLC17A3) mediated time- and concentration-dependent uptake of OTxA (K(m): 802.8 microM) in a pH- and voltage-sensitive manner.
Title: A novel human organic anion transporter NPT4 mediates the transport of ochratoxin A.
variants carrying SNP V257F, G279R, or P378L exhibited reduced transport of para-aminohippurate, bumetanide, estrone and urate; SNPs may contribute to inter-individual differences in disposition of anionic drugs and certain endogenous organic anions
Title: Functional analysis of human sodium-phosphate transporter 4 (NPT4/SLC17A3) polymorphisms.
Genetic variants within SLC2A9,ABCG2 and SLC17A3 are associated with uric acid levels
Title: Sex and age interaction with genetic association of atherogenic uric acid concentrations.
a model of urate secretion in the renal tubular cell, where intracellular urate taken up via OAT1 and/or OAT3 from the blood exits from the cell into the lumen via hNPT4.
Title: Human sodium phosphate transporter 4 (hNPT4/SLC17A3) as a common renal secretory pathway for drugs and urate.
Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
SLC17A3 seems to have a major role in determination of serum uric acid repeated measurements variation.
Title: Common variants in SLC17A3 gene affect intra-personal variation in serum uric acid levels in longitudinal time series.
Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
Title: Sex and age interaction with genetic association of atherogenic uric acid concentrations.

Submit: New GeneRIF Correction See all GeneRIFs (14)

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

Associated conditions

Description	Tests
Uric acid concentration, serum, quantitative trait locus 4 MedGen: C2675207 OMIM: 612671 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

Description
An atlas of genetic influences on human blood metabolites. EBI GWAS Catalog EBI GWAS CatalogPubMed
Association of three genetic loci with uric acid concentration and risk of gout: a genome-wide association study. EBI GWAS Catalog EBI GWAS CatalogPubMed
Common genetic loci influencing plasma homocysteine concentrations and their effect on risk of coronary artery disease. EBI GWAS Catalog EBI GWAS CatalogPubMed
Common variants on chromosome 6p22.1 are associated with schizophrenia. EBI GWAS Catalog EBI GWAS CatalogPubMed
Gene-age interactions in blood pressure regulation: a large-scale investigation with the CHARGE, Global BPgen, and ICBP Consortia. 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
Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium. EBI GWAS Catalog EBI GWAS CatalogPubMed
Seventy-five genetic loci influencing the human red blood cell. 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)

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables efflux transmembrane transporter activity	IBA Inferred from Biological aspect of Ancestor more info
enables efflux transmembrane transporter activity	IDA Inferred from Direct Assay more info	PubMed
enables organic anion transmembrane transporter activity	IDA Inferred from Direct Assay more info	PubMed
enables sodium:phosphate symporter activity	ISS Inferred from Sequence or Structural Similarity more info
enables sodium:phosphate symporter activity	TAS Traceable Author Statement more info
enables toxin transmembrane transporter activity	IBA Inferred from Biological aspect of Ancestor more info
enables toxin transmembrane transporter activity	IDA Inferred from Direct Assay more info	PubMed
enables urate transmembrane transporter activity	IBA Inferred from Biological aspect of Ancestor more info
enables urate transmembrane transporter activity	IDA Inferred from Direct Assay more info	PubMed
enables urate transmembrane transporter activity	TAS Traceable Author Statement more info
enables voltage-gated monoatomic anion channel activity	IBA Inferred from Biological aspect of Ancestor more info
enables voltage-gated monoatomic anion channel activity	IDA Inferred from Direct Assay more info	PubMed
enables xenobiotic transmembrane transporter activity	IBA Inferred from Biological aspect of Ancestor more info
enables xenobiotic transmembrane transporter activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in glucose-6-phosphate transport	TAS Traceable Author Statement more info	PubMed
involved_in monoatomic anion transmembrane transport	IEA Inferred from Electronic Annotation more info
involved_in monoatomic anion transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in monoatomic ion transmembrane transport	TAS Traceable Author Statement more info
involved_in organic anion transport	IDA Inferred from Direct Assay more info	PubMed
involved_in phosphate ion transport	ISS Inferred from Sequence or Structural Similarity more info
involved_in sodium ion transmembrane transport	IEA Inferred from Electronic Annotation more info
involved_in sodium ion transport	ISS Inferred from Sequence or Structural Similarity more info
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	IDA Inferred from Direct Assay more info	PubMed
involved_in xenobiotic detoxification by transmembrane export across the plasma membrane	IDA Inferred from Direct Assay 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 brush border membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in endoplasmic reticulum membrane	IDA Inferred from Direct Assay more info	PubMed
located_in endoplasmic reticulum membrane	TAS Traceable Author Statement more info
located_in perinuclear region of cytoplasm	IDA Inferred from Direct Assay more info	PubMed
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
located_in plasma membrane	TAS Traceable Author Statement more info

General protein information

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Preferred Names: sodium-dependent phosphate transport protein 4

Names: Na(+)/PI cotransporter 4; sodium/phosphate cotransporter 4; solute carrier family 17 (organic anion transporter), member 3; solute carrier family 17 (sodium phosphate), member 3

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

NG_032922.1 RefSeqGene

Range

5001..34388

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001098486.2 → NP_001091956.1 sodium-dependent phosphate transport protein 4 isoform a

See identical proteins and their annotated locations for NP_001091956.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a).

Source sequence(s)

AL138726, BX107915, CB163247, DC340735, DC361549, Z83953

Consensus CDS

CCDS47385.1

UniProtKB/Swiss-Prot

O00476

Related

ENSP00000380250.4, ENST00000397060.8

Conserved Domains (2) summary

cd06174
Location:98 → 481

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:23 → 497

2A0114euk; Na(+)-dependent inorganic phosphate cotransporter
NM_006632.4 → NP_006623.2 sodium-dependent phosphate transport protein 4 isoform b

See identical proteins and their annotated locations for NP_006623.2

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks an alternate in-frame exon in the 5' coding region, compared to variant 1, resulting in a shorter protein (isoform b), compared to isoform a.

Source sequence(s)

AL138726, BC017952, DC361549

Consensus CDS

CCDS4566.2

UniProtKB/Swiss-Prot

B7WNJ5, B7Z511, O00476, Q8WWC7, Q9H533

Related

ENSP00000355307.6, ENST00000361703.10

Conserved Domains (2) summary

cd06174
Location:102 → 403

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:23 → 419

2A0114euk; Na(+)-dependent inorganic phosphate cotransporter