SLC17A3

Protein name: NPT4 Aliases: N/D Substrates: organic anions Transport type: electrogenic Tissue and cellular expression: liver, kidney, small intestine, testis Subcellular expression: plasma membrane Disease: gout Locus: 6p22.2 Sequence ID: NP_001091956.1, NM_001098486.1 NP_006623.2, NM_006632.3 Gene ID: 10786 Splice variants: N/D

NPT4_HUMAN (UniProt)

Gene names: SLC17A3, NPT4
Protein names and data: NPT4_HUMAN, Full=Sodium-dependent phosphate transport protein 4, Full=Na(+)/PI cotransporter 4;Full=Sodium/phosphate cotransporter 4;Full=Solute carrier family 17 member 3; Length: 420 a.a., Mass: 46106 Da,
fasta formatted sequence

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
Cellular location: Isoform 2: Cell membrane; Multi-pass membrane protein
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)

Database cross-references

UniProt: O00476
NextBio: 40966
OMIM: 611034 612671
Ensembl: ENST00000397060
GeneCard: GC06M025833
PharmGenUCSF: SLC17A3
Guide to Pharmacology: SLC17A3 (1004)
Type I sodium-phosphate co-transporters (1004)

HGNC: HGNC:10931

Genetic variants

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. See also Ensembl:ENST00000397060