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Aliases for SLC17A3 Gene

Aliases for SLC17A3 Gene

  • Solute Carrier Family 17 Member 3 2 3 4 5
  • Solute Carrier Family 17 (Organic Anion Transporter), Member 3 2 3
  • Solute Carrier Family 17 (Sodium Phosphate), Member 3 2 3
  • Sodium/Phosphate Cotransporter 4 3 4
  • Na(+)/PI Cotransporter 4 3 4
  • NPT4 3 4
  • Sodium-Dependent Phosphate Transport Protein 4 3
  • 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 Ion channel transport and Uricosurics Pathway, Pharmacodynamics. 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 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.

Additional gene information for SLC17A3 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SLC17A3 Gene

Genomics for SLC17A3 Gene

GeneHancer (GH) Regulatory Elements for SLC17A3 Gene

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
GH06I025881 Promoter/Enhancer 1.1 Ensembl ENCODE 564.8 +0.2 164 0.6 CTCF CTBP1 USF1 RXRA TAF1 HNF4A RAD21 YY1 SLC17A3 HIST1H2APS2 PIR39663
GH06I025884 Enhancer 0.7 ENCODE 550.8 -1.9 -1912 0.2 FOXA2 MAX RAD21 YY1 HNF4G FOSL2 RXRA CEBPB REST GABPA ENSG00000277410 SLC17A3 HIST1H2APS2
GH06I025874 Promoter 0.7 EPDnew 550.4 +8.0 8023 0.1 JUND HNF4A SLC17A3 PIR39663
GH06I025835 Enhancer 0.9 FANTOM5 ENCODE 10.6 +46.3 46279 1 DRAP1 ELF3 SAP130 ZSCAN4 ARID4B ZNF644 TEAD3 POLR2A CREM HOMEZ PIR39663 SLC17A3 SLC17A4 BTN3A2 SLC17A1
GH06I025754 Promoter/Enhancer 1 EPDnew ENCODE 8.3 +127.0 127039 1.8 JUND ATF3 TAF1 ZSCAN4 HNF4A REST YY1 SLC17A4 ENSG00000272462 SLC17A3 GC06P025803
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around SLC17A3 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the SLC17A3 gene promoter:

Genomic Locations for SLC17A3 Gene

Genomic Locations for SLC17A3 Gene
chr6:25,833,066-25,882,286
(GRCh38/hg38)
Size:
49,221 bases
Orientation:
Minus strand
chr6:25,833,294-25,882,514
(GRCh37/hg19)

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=Translation N-terminally extended.; 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 posLast=4949, posLast=6060, posLast=6868, and isoforms=277

Other Protein References for SLC17A3 Gene

No data available for DME Specific Peptides for SLC17A3 Gene

Domains & Families for SLC17A3 Gene

Gene Families for SLC17A3 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Predicted membrane proteins
  • Transporters

Protein Domains for SLC17A3 Gene

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

GENATLAS Biochemistry:
solute carrier family 17 (sodium/phosphate cotransport) member 3,expressed in liver and kidney
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.

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 IDA 20810651
GO:0008514 organic anion transmembrane transporter activity IDA 20810651
GO:0015143 urate transmembrane transporter activity TAS --
GO:0015238 drug transmembrane transporter activity IDA 20810651
genes like me logo Genes that share ontologies with SLC17A3: view

Phenotypes for SLC17A3 Gene

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

miRNA for SLC17A3 Gene

miRTarBase miRNAs that target SLC17A3

Inhibitory RNA Products

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
endoplasmic reticulum 5

Gene Ontology (GO) - Cellular Components for SLC17A3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA 20810651
GO:0005783 endoplasmic reticulum IEA --
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane IDA 20810651
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:0006810 transport IEA --
GO:0006811 ion transport IEA --
GO:0006814 sodium ion transport ISS --
GO:0006817 phosphate ion transport ISS --
GO:0006855 drug transmembrane transport IEA --
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
  • Sodium
  • Sodium ion
7440-23-5
genes like me logo Genes that share compounds with SLC17A3: view

Transcripts for SLC17A3 Gene

mRNA/cDNA for SLC17A3 Gene

Unigene Clusters for SLC17A3 Gene

Solute carrier family 17 (sodium phosphate), member 3:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

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
ECgene alternative splicing isoforms for
SLC17A3

Expression for SLC17A3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, and MOPED for SLC17A3 Gene



Protein tissue co-expression partners for SLC17A3 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of SLC17A3 Gene:

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(4.5)
genes like me logo Genes that share expression patterns with SLC17A3: view

Primer Products

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 33 34
  • 99.33 (n)
dog
(Canis familiaris)
Mammalia LOC478741 33
  • 81.32 (n)
-- 34
  • 70 (a)
OneToMany
-- 34
  • 49 (a)
OneToMany
cow
(Bos Taurus)
Mammalia SLC17A3 33 34
  • 80.28 (n)
rat
(Rattus norvegicus)
Mammalia Slc17a3 33
  • 74.16 (n)
mouse
(Mus musculus)
Mammalia Slc17a3 33 16 34
  • 73.63 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 50 (a)
ManyToMany
-- 34
  • 40 (a)
ManyToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 45 (a)
ManyToMany
-- 34
  • 44 (a)
ManyToMany
zebrafish
(Danio rerio)
Actinopterygii CU929219.1 34
  • 32 (a)
OneToMany
Species where no ortholog for SLC17A3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 squirt (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)

Paralogs for SLC17A3 Gene

Paralogs for SLC17A3 Gene

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

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 from dbSNP and Humsavar for SLC17A3 Gene

SNP ID Clin Chr 06 pos Variation AA Info Type
rs387907256 association, Uric acid concentration, serum, quantitative trait locus 4 25,850,541(-) A/G coding_sequence_variant, missense_variant
rs387907257 risk-factor, Uric acid concentration, serum, quantitative trait locus 4 25,862,334(-) T/G coding_sequence_variant, missense_variant
rs1000084487 -- 25,868,398(-) C/T 5_prime_UTR_variant
rs1000196633 -- 25,875,444(-) G/A upstream_transcript_variant
rs1000295741 -- 25,855,385(-) A/G intron_variant

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

Disorders for SLC17A3 Gene

MalaCards: The human disease database

(3) MalaCards diseases for SLC17A3 Gene - From: HGMD, OMIM, ClinVar, GTR, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
uric acid concentration, serum, quantitative trait locus 4
  • uaqtl4
gout
  • articular gout
hyperuricemia
  • uricacidemia
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for SLC17A3

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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. 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 22 58
  2. A 1.1-Mb transcript map of the hereditary hemochromatosis locus. (PMID: 9149941) Ruddy DA … Feder JN (Genome research 1997) 2 3 4 58
  3. 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 44 58
  4. Examination of genetic polymorphisms in newborns for signatures of sex-specific prenatal selection. (PMID: 20587610) Ucisik-Akkaya E … Dorak MT (Molecular human reproduction 2010) 3 44 58
  5. 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 58

Products for SLC17A3 Gene

Sources for SLC17A3 Gene

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