SLC17A3 (solute carrier family 17 member 3)

Gene

• Entrez ID: 10786
• Gene name: Solute carrier family 17 member 3
• Gene symbol: SLC17A3
• Synonyms (NCBI Gene): GOUT4, NPT4, UAQTL4
• Chromosome: 6
• Chromosome location: 6p22.2
• 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 iso

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs387907257	T>G	Risk-factor	Missense variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT017850	hsa-miR-335-5p	Microarray	18185580

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005436	Function	Sodium:phosphate symporter activity	ISS
GO:0005436	Function	Sodium:phosphate symporter activity	TAS
GO:0005737	Component	Cytoplasm	IDA	20810651
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IDA	15505377
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0005886	Component	Plasma membrane	IDA	20810651
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006814	Process	Sodium ion transport	IEA
GO:0006814	Process	Sodium ion transport	ISS
GO:0006817	Process	Phosphate ion transport	ISS
GO:0008308	Function	Voltage-gated monoatomic anion channel activity	IBA
GO:0008308	Function	Voltage-gated monoatomic anion channel activity	IDA	20810651
GO:0008514	Function	Organic anion transmembrane transporter activity	IDA	20810651
GO:0015143	Function	Urate transmembrane transporter activity	IBA
GO:0015143	Function	Urate transmembrane transporter activity	IDA	20810651
GO:0015143	Function	Urate transmembrane transporter activity	TAS
GO:0015293	Function	Symporter activity	IEA
GO:0015562	Function	Efflux transmembrane transporter activity	IBA
GO:0015562	Function	Efflux transmembrane transporter activity	IDA	20810651
GO:0015711	Process	Organic anion transport	IDA	20810651
GO:0015747	Process	Urate transport	IBA
GO:0015747	Process	Urate transport	IDA	20810651
GO:0015760	Process	Glucose-6-phosphate transport	TAS	15505377
GO:0016020	Component	Membrane	IEA
GO:0016324	Component	Apical plasma membrane	IBA
GO:0016324	Component	Apical plasma membrane	IDA	20810651
GO:0019534	Function	Toxin transmembrane transporter activity	IBA
GO:0019534	Function	Toxin transmembrane transporter activity	IDA	20810651
GO:0022857	Function	Transmembrane transporter activity	IEA
GO:0031526	Component	Brush border membrane	ISS
GO:0034220	Process	Monoatomic ion transmembrane transport	TAS
GO:0035725	Process	Sodium ion transmembrane transport	IEA
GO:0042910	Function	Xenobiotic transmembrane transporter activity	IBA
GO:0042910	Function	Xenobiotic transmembrane transporter activity	IDA	20810651
GO:0046415	Process	Urate metabolic process	IMP	18834626, 20053405, 20162743
GO:0048471	Component	Perinuclear region of cytoplasm	IDA	15505377
GO:0055085	Process	Transmembrane transport	IEA
GO:0098656	Process	Monoatomic anion transmembrane transport	IEA
GO:1990961	Process	Xenobiotic detoxification by transmembrane export across the plasma membrane	IDA	20810651

Other IDs

• MIM: 611034
• HGNC: 10931
• e!Ensembl: ENSG00000124564

Protein

• UniProt ID: O00476
• Protein name: Sodium-dependent phosphate transport protein 4 (Na(+)/PI cotransporter 4) (NPT4) (Sodium/phosphate cotransporter 4) (Solute carrier family 17 member 3)
• Protein function: [Isoform 2]: Transports organic anions in a voltage-driven, multispecific, manner, on the apical side of renal proximal tubule (PubMed:20810651). In particular, participates in the secretion of urate from the cell into the lumen (PubMed:20810651
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF07690	MFS_1	100 → 355	Major Facilitator Superfamily	Family

• Tissue specificity: TISSUE SPECIFICITY: Expressed in the liver and kidney (PubMed:20810651, PubMed:9149941). 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 l
• Sequence:

  MATKTELSPTARESKNAQDMQVDETLIPRKVPSLCSARYGIALVLHFCNFTTIAQNVIMN
  ITMVAMVNSTSPQSQLNDSSEVLPVDSFGGLSKAPKSLPAKSSILGGQFAIWEKWGPPQE
  RSRLCSIALSGMLLGCFTAILIGGFISETLGWPFVFYIFGGVGCVCCLLWFVVIYDDPVS
  YPWISTSEKEYIISSLKQQVGSSKQPLPIKAMLRSLPIWSICLGCFSHQWLVSTMVVYIP
  TYISSVYHVNIRDNGLLSALPFIVAWVIGMVGGYLADFLLTKKFRLITVRKIATILGSLP
  SSALIVSLPYLNSGYITATALLTLSCGLSTLCQSGIYINVLDIAPRYSSFLMGASRGFSS
  IAPVIVPTVSGFLLSQDPEFGWRNVFFLLFAVNLLGLLFYLIFGEADVQEWAKERKLTRL
  

• Sequence length: 420

Pathways

Reactome:

Stimuli-sensing channels

Associated diseases

Unknown
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Adrenocortical carcinoma, hereditary	Benign	rs56027330	RCV005935570
Cholangiocarcinoma	Benign	rs56027330	RCV005935572
SLC17A3-related disorder	Benign	rs151018667, rs56027330, rs116732075, rs141619987	RCV003909471 RCV003974023 RCV003942047 RCV003969003
Thymoma	Benign	rs56027330	RCV005935571
Uric acid concentration, serum, quantitative trait locus 4	association; risk factor	rs387907256, rs387907257	RCV000030654 RCV000030655

Associations from Text Mining
Disease Name	Relationship Type	References
Bovine Respiratory Disease Complex	Associate	31402603
Cerebral Infarction	Associate	24846872
Diabetes Mellitus Type 1	Associate	37696853
Diabetes Mellitus Type 2	Associate	31402603
Disease	Associate	32014011
Dyslipidemias	Associate	29879492, 31402603
Gout	Associate	18834626, 22541845, 27511497
Hypertension	Associate	31402603
Hyperuricemia	Associate	31402603
Hypoalphalipoproteinemias	Associate	29879492
Obesity	Associate	31402603