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.... See more...

Aliases for SLC17A3 Gene

Aliases for SLC17A3 Gene

  • Solute Carrier Family 17 Member 3 2 3 4 5
  • NPT4 2 3 4
  • Solute Carrier Family 17 (Organic Anion Transporter), Member 3 2 3
  • Solute Carrier Family 17 (Sodium Phosphate), Member 3 2 3
  • Sodium-Dependent Phosphate Transport Protein 4 3 4
  • Sodium/Phosphate Cotransporter 4 3 4
  • Na(+)/PI Cotransporter 4 3 4
  • SLC17A3 5
  • UAQTL4 3
  • GOUT4 3

External Ids for SLC17A3 Gene

Previous GeneCards Identifiers for SLC17A3 Gene

  • GC06M025902
  • GC06M025953
  • GC06M025788

Summaries for SLC17A3 Gene

Entrez Gene Summary for SLC17A3 Gene

  • 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]

GeneCards Summary for SLC17A3 Gene

SLC17A3 (Solute Carrier Family 17 Member 3) is a Protein Coding gene. Diseases associated with SLC17A3 include Uric Acid Concentration, Serum, Quantitative Trait Locus 4 and Gout. Among its related pathways are Uricosurics Pathway, Pharmacodynamics and Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. Gene Ontology (GO) annotations related to this gene include organic anion transmembrane transporter activity and drug transmembrane transporter activity. An important paralog of this gene is SLC17A2.

UniProtKB/Swiss-Prot Summary for SLC17A3 Gene

  • [Isoform 2]: voltage-driven, multispecific, organic anion transporter able to transport para-aminohippurate (PAH), estrone sulfate, estradiol-17-beta-glucuronide, bumetanide, and ochratoxin A. Isoform 2 functions as urate efflux transporter on the apical side of renal proximal tubule and is likely to act as an exit path for organic anionic drugs as well as urate in vivo. May be involved in actively transporting phosphate into cells via Na(+) cotransport.

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SLC17A3 Gene

Genomics for SLC17A3 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for SLC17A3 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH06J025881 Promoter/Enhancer 0.9 Ensembl ENCODE 264.7 0.0 -15 1 CTCF YY1 HNF4A RAD21 SP1 CTBP1 TAF1 RXRA USF1 SLC17A3 H2AC3P HSALNG0048708 SLC17A1 ENSG00000272462 SLC17A2 RF00017-5374
GH06J025884 Enhancer 0.8 Ensembl ENCODE 264.7 -1.8 -1815 1 CEBPA CEBPB RXRA FOXA2 ZBTB33 JUND HNF4A RAD21 REST MAX SLC17A3 H2AC3P H2BP5 HSALNG0048708 HSALNG0048709 ENSG00000272462 BTN3A2 SLC17A2 RF00017-5374
GH06J025874 Promoter 0.6 EPDnew 250.4 +8.0 8023 0.1 JUND HNF4A SP1 SLC17A3 HSALNG0048704 SLC17A1 RF00017-5374
GH06J025835 Enhancer 1.1 FANTOM5 Ensembl ENCODE 10.6 +46.4 46444 1.3 CEBPA HOMEZ KDM6A SMAD4 SAP130 ETV4 GABPB1 RARA TEAD3 JUND piR-46664 SLC17A3 SLC17A4 BTN3A2 SLC17A1 HSALNG0048704 RF00017-5374
GH06J025748 Enhancer 0.9 Ensembl ENCODE 9.2 +132.3 132300 3.7 CEBPA ZFP64 SMAD4 SAP130 RXRA RARA TEAD3 DMAP1 THRB DRAP1 piR-30350-052 ENSG00000272462 ABT1 HMGN4 BTN2A2 BTN2A3P BTN2A1 SLC17A3 BTN3A2 ENSG00000272810
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SLC17A3 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SLC17A3

Top Transcription factor binding sites by QIAGEN in the SLC17A3 gene promoter:
  • AML1a
  • HNF-1
  • HNF-1A
  • Lmo2
  • MRF-2
  • Nkx3-1 v1
  • Nkx3-1 v2
  • Nkx3-1 v3
  • Nkx3-1 v4
  • POU6F1 (c2)

Genomic Locations for SLC17A3 Gene

Latest Assembly
chr6:25,833,066-25,882,286
(GRCh38/hg38)
Size:
49,221 bases
Orientation:
Minus strand

Previous Assembly
chr6:25,845,084-25,874,471
(GRCh37/hg19 by Entrez Gene)
Size:
29,388 bases
Orientation:
Minus strand

chr6:25,833,294-25,882,514
(GRCh37/hg19 by Ensembl)
Size:
49,221 bases
Orientation:
Minus strand

Genomic View for SLC17A3 Gene

Genes around SLC17A3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SLC17A3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SLC17A3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SLC17A3 Gene

Proteins for SLC17A3 Gene

  • Protein details for SLC17A3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O00476-NPT4_HUMAN
    Recommended name:
    Sodium-dependent phosphate transport protein 4
    Protein Accession:
    O00476
    Secondary Accessions:
    • B7WNJ5
    • B7Z511
    • Q8WWC7
    • Q9H533

    Protein attributes for SLC17A3 Gene

    Size:
    420 amino acids
    Molecular mass:
    46106 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAB53423.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};

    Alternative splice isoforms for SLC17A3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SLC17A3 Gene

Post-translational modifications for SLC17A3 Gene

  • Glycosylation at Asn49, Asn60, Asn68, and Asn77
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for SLC17A3 Gene

Domains & Families for SLC17A3 Gene

Gene Families for SLC17A3 Gene

Protein Domains for SLC17A3 Gene

Suggested Antigen Peptide Sequences for SLC17A3 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ53150, highly similar to Sodium-dependent phosphate transport protein 4 (B7Z511_HUMAN)
  • Solute carrier family 17 member 3 (NPT4_HUMAN)
  • Solute carrier family 17 (Sodium phosphate), member 3 (Q9H532_HUMAN)
  • Solute carrier family 17 (Sodium phosphate), member 3 (Q9H534_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O00476

UniProtKB/Swiss-Prot:

NPT4_HUMAN :
  • Belongs to the major facilitator superfamily. Sodium/anion cotransporter family.
Family:
  • Belongs to the major facilitator superfamily. Sodium/anion cotransporter family.
genes like me logo Genes that share domains with SLC17A3: view

Function for SLC17A3 Gene

Molecular function for SLC17A3 Gene

UniProtKB/Swiss-Prot Function:
[Isoform 2]: voltage-driven, multispecific, organic anion transporter able to transport para-aminohippurate (PAH), estrone sulfate, estradiol-17-beta-glucuronide, bumetanide, and ochratoxin A. Isoform 2 functions as urate efflux transporter on the apical side of renal proximal tubule and is likely to act as an exit path for organic anionic drugs as well as urate in vivo. May be involved in actively transporting phosphate into cells via Na(+) cotransport.
GENATLAS Biochemistry:
solute carrier family 17 (sodium/phosphate cotransport) member 3,expressed in liver and kidney

Phenotypes From GWAS Catalog for SLC17A3 Gene

Gene Ontology (GO) - Molecular Function for SLC17A3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005436 sodium:phosphate symporter activity TAS --
GO:0008308 voltage-gated anion channel activity IBA,IDA 20810651
GO:0008514 organic anion transmembrane transporter activity IDA 20810651
GO:0015136 sialic acid transmembrane transporter activity IBA 21873635
GO:0015143 urate transmembrane transporter activity TAS --
genes like me logo Genes that share ontologies with SLC17A3: view
genes like me logo Genes that share phenotypes with SLC17A3: view

Animal Models for research

  • Taconic Biosciences Mouse Models for SLC17A3

miRNA for SLC17A3 Gene

miRTarBase miRNAs that target SLC17A3

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SLC17A3

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for SLC17A3 Gene

Localization for SLC17A3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SLC17A3 Gene

[Isoform 1]: Endoplasmic reticulum membrane. Multi-pass membrane protein.
[Isoform 2]: Cell membrane. Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SLC17A3 gene
Compartment Confidence
plasma membrane 5
lysosome 3
extracellular 1
cytoskeleton 1
mitochondrion 1
nucleus 1
endoplasmic reticulum 1
cytosol 1

Gene Ontology (GO) - Cellular Components for SLC17A3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA 20810651
GO:0005764 lysosome IBA 21873635
GO:0005783 endoplasmic reticulum IEA --
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0005886 plasma membrane TAS --
genes like me logo Genes that share ontologies with SLC17A3: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for SLC17A3 Gene

Pathways & Interactions for SLC17A3 Gene

genes like me logo Genes that share pathways with SLC17A3: view

Pathways by source for SLC17A3 Gene

Interacting Proteins for SLC17A3 Gene

Gene Ontology (GO) - Biological Process for SLC17A3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006811 ion transport IEA --
GO:0006814 sodium ion transport ISS --
GO:0006817 phosphate ion transport ISS --
GO:0006820 anion transport IBA 21873635
GO:0015711 organic anion transport IDA 20810651
genes like me logo Genes that share ontologies with SLC17A3: view

No data available for SIGNOR curated interactions for SLC17A3 Gene

Drugs & Compounds for SLC17A3 Gene

(1) Additional Compounds for SLC17A3 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
sodium
  • Na(+)
  • Na+
  • SODIUM ion
  • Sodium(1+)
7440-23-5
genes like me logo Genes that share compounds with SLC17A3: view

Transcripts for SLC17A3 Gene

mRNA/cDNA for SLC17A3 Gene

2 REFSEQ mRNAs :
12 NCBI additional mRNA sequence :
10 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SLC17A3

Alternative Splicing Database (ASD) splice patterns (SP) for SLC17A3 Gene

ExUns: 1 ^ 2a · 2b ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b · 8c ^ 9a · 9b ^ 10 ^ 11a · 11b ^ 12 ^ 13 ^ 14
SP1: - - -
SP2: - - - - -
SP3: - - -
SP4: -
SP5: - -
SP6:

Relevant External Links for SLC17A3 Gene

GeneLoc Exon Structure for
SLC17A3

Expression for SLC17A3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SLC17A3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SLC17A3 Gene

This gene is overexpressed in Kidney - Cortex (x37.4) and Liver (x13.7).

Protein differential expression in normal tissues from HIPED for SLC17A3 Gene

This gene is overexpressed in Kidney (58.1) and Urine (10.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for SLC17A3 Gene



Protein tissue co-expression partners for SLC17A3 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SLC17A3

SOURCE GeneReport for Unigene cluster for SLC17A3 Gene:

Hs.327179

mRNA Expression by UniProt/SwissProt for SLC17A3 Gene:

O00476-NPT4_HUMAN
Tissue specificity: Expressed in the liver and kidney. It is detected in proximal tubules in renal cortex as well as some tubules and glomeruli, with highest expression at the apical side of proximal tubules (at protein level).

Evidence on tissue expression from TISSUES for SLC17A3 Gene

  • Kidney(4.6)
  • Nervous system(2.3)
  • Liver(2.2)
genes like me logo Genes that share expression patterns with SLC17A3: view

Primer products for research

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for SLC17A3 Gene

Orthologs for SLC17A3 Gene

This gene was present in the common ancestor of chordates.

Orthologs for SLC17A3 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia SLC17A3 30 31
  • 99.33 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia LOC478741 30
  • 81.32 (n)
-- 31
  • 70 (a)
OneToMany
-- 31
  • 49 (a)
OneToMany
Cow
(Bos Taurus)
Mammalia SLC17A3 30 31
  • 80.28 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Slc17a3 30
  • 74.16 (n)
Mouse
(Mus musculus)
Mammalia Slc17a3 30 17 31
  • 73.63 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia -- 31
  • 50 (a)
ManyToMany
-- 31
  • 40 (a)
ManyToMany
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 45 (a)
ManyToMany
-- 31
  • 44 (a)
ManyToMany
Zebrafish
(Danio rerio)
Actinopterygii CU929219.1 31
  • 32 (a)
OneToMany
Species where no ortholog for SLC17A3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Lizard (Anolis carolinensis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for SLC17A3 Gene

ENSEMBL:
Gene Tree for SLC17A3 (if available)
TreeFam:
Gene Tree for SLC17A3 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SLC17A3: view image

Paralogs for SLC17A3 Gene

(5) SIMAP similar genes for SLC17A3 Gene using alignment to 4 proteins:

  • NPT4_HUMAN
  • E9PBQ8_HUMAN
  • H0Y8R7_HUMAN
  • H0Y9F7_HUMAN
genes like me logo Genes that share paralogs with SLC17A3: view

Variants for SLC17A3 Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for SLC17A3 Gene

NPT4_HUMAN-O00476
Genetic variations in SLC17A3 influence the variance in serum uric acid concentrations and define the serum uric acid concentration quantitative trait locus 4 (UAQTL4) [MIM:612671]. Excess serum accumulation of uric acid can lead to the development of gout, a common disorder characterized by tissue deposition of monosodium urate crystals as a consequence of hyperuricemia.

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SLC17A3 Gene

SNP ID Clinical significance and condition Chr 06 pos Variation AA Info Type
rs387907256 Association: Uric acid concentration, serum, quantitative trait locus 4. - 25,850,541(-) A/Gp.Phe226Ser
NM_001098486.2(SLC17A3):c.911T>C (p.Phe304Ser)
MISSENSE
rs387907257 Risk Factor: Uric acid concentration, serum, quantitative trait locus 4. - 25,862,334(-) T/Gp.Asn68His
NM_001098486.2(SLC17A3):c.202A>C (p.Asn68His)
MISSENSE
rs1165165 - p.Ala100Thr
rs11966370 - p.Pro300Leu
rs56027330 - p.Gly201Arg

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for SLC17A3 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for SLC17A3 Gene

Variant ID Type Subtype PubMed ID
nsv1023453 CNV gain 25217958

Variation tolerance for SLC17A3 Gene

Residual Variation Intolerance Score: 65.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.90; 79.58% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SLC17A3 Gene

Human Gene Mutation Database (HGMD)
SLC17A3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SLC17A3

SNP Genotyping and Copy Number Assays for research

Disorders for SLC17A3 Gene

MalaCards: The human disease database

(7) MalaCards diseases for SLC17A3 Gene - From: OMI, CVR, GTR, COP, and GCD

Disorder Aliases PubMed IDs
uric acid concentration, serum, quantitative trait locus 4
  • uaqtl4
gout
  • articular gout
fanconi renotubular syndrome 2
  • frts2
hyperuricemia
  • blood urate raized
glycogen storage disease
  • glycogenoses
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for SLC17A3

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with SLC17A3: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SLC17A3 Gene

Publications for SLC17A3 Gene

  1. Human sodium phosphate transporter 4 (hNPT4/SLC17A3) as a common renal secretory pathway for drugs and urate. (PMID: 20810651) Jutabha P … Sakurai H (The Journal of biological chemistry 2010) 3 4 74
  2. NPT4, a new microsomal phosphate transporter: mutation analysis in glycogen storage disease type Ic. (PMID: 15505377) Melis D … Verheijen F (Journal of inherited metabolic disease 2004) 3 4 23
  3. A 1.1-Mb transcript map of the hereditary hemochromatosis locus. (PMID: 9149941) Ruddy DA … Feder JN (Genome research 1997) 2 3 4
  4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 41
  5. Sex and age interaction with genetic association of atherogenic uric acid concentrations. (PMID: 20053405) Brandstätter A … Kronenberg F (Atherosclerosis 2010) 3 41

Products for SLC17A3 Gene

Sources for SLC17A3 Gene