SLC17A3 - solute carrier family 17 member 3 Gene

Homo sapiens

Also known as NPT4; GOUT4; UAQTL4

Gene ID: 10786 | Gene type: protein coding

About SLC17A3

Cytogenetic location: 6p22.2 Genomic coordinates (GRCh38): 6:25,844,856-25,874,243 (from NCBI)

This gene has 10 transcripts (splice variants), 381 orthologues, 12 paralogues and is associated with 1 phenotype. Restricted expression toward kidney (RPKM 57.7).

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]

SLC17A3 Products(2)

mRNA	Protein	Name
NM_001098486.2	NP_001091956.1	sodium-dependent phosphate transport protein 4 isoform a
NM_006632.4	NP_006623.2	sodium-dependent phosphate transport protein 4 isoform b

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables efflux transmembrane transporter activity	IDA IDA: Inferred from direct assay	20810651	GOA
enables organic anion transmembrane transporter activity	IDA IDA: Inferred from direct assay	20810651	GOA
enables toxin transmembrane transporter activity	IDA IDA: Inferred from direct assay	20810651	GOA
enables urate transmembrane transporter activity	IDA IDA: Inferred from direct assay	20810651	GOA
enables voltage-gated monoatomic anion channel activity	IDA IDA: Inferred from direct assay	20810651	GOA
enables xenobiotic transmembrane transporter activity	IDA IDA: Inferred from direct assay	20810651	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in organic anion transport	IDA IDA: Inferred from direct assay	20810651	GOA
involved in urate metabolic process	IMP IMP: Inferred from mutant phenotype	18834626	GOA
involved in urate transport	IDA IDA: Inferred from direct assay	20810651	GOA
involved in xenobiotic detoxification by transmembrane export across the plasma membrane	IDA IDA: Inferred from direct assay	20810651	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in apical plasma membrane	IDA IDA: Inferred from direct assay	20810651	GOA
located in cytoplasm	IDA IDA: Inferred from direct assay	20810651	GOA
located in endoplasmic reticulum membrane	IDA IDA: Inferred from direct assay	15505377	GOA
located in perinuclear region of cytoplasm	IDA IDA: Inferred from direct assay	15505377	GOA
located in plasma membrane	IDA IDA: Inferred from direct assay	20810651	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

SLC17A3 Protein Structure

MFS_1

0
100
200
300
420 a.a.

Protein Preferred Names

Protein Names

sodium-dependent phosphate transport protein 4

Na(+)/PI cotransporter 4

Related Diseases

Diseases

Alias

Uric Acid Concentration, Serum, Quantitative Trait Locus 4

UAQTL4	Gout Susceptibility 4
Gout4

Nephrolithiasis, Uric Acid

Nephrolithiasis, Uric Acid, Susceptibility To	Uric Acid Urolithiasis
Uric Acid Nephrolithiasis	UAN
Acute Urate Nephropathy	Urolithiasis, Uric Acid
Urolithiasis, Uric Acid, Susceptibility To	Uric Acid Renal Calculus

Gout

Gouty Arthritis	Articular Gout
Gouty Arthropathy	Arthritis, Gouty
Arthritis Gouty	Idiopathic Gout
Idiopathic Gout, Unspecified Site	Gouty Bursitis
Uratic Arthritis	Gout Nos
Gouty	Gouty Diathesis

Fanconi Renotubular Syndrome 2

FRTS2

Fanconi Renotubular Syndrome, Type 2

Glycogen Storage Disease

Glycogenosis	Glycogenoses
Gsd	Storage Disease, Glycogen
Gsd - [Glycogen Storage Disease]	Glycogen Thesaurismosis
Diffuse Glycogenosis	Generalised Glycogen Storage Disease
Generalised Glycogenosis	Generalised Glycogen Storage Disease Of Infants
Glycogen Synthase Deficiency

Tubulointerstitial Kidney Disease, Autosomal Dominant, 1

Familial Juvenile Hyperuricemic Nephropathy	Mckd2
Familial Juvenile Hyperuricemic Nephropathy Type 1	Fjhn
Medullary Cystic Kidney Disease 2	Uromodulin-Associated Kidney Disease
Medullary Cystic Kidney Disease Type 2	ADTKD1
Hnfj1	Glomerulocystic Kidney Disease With Hyperuricemia And Isosthenuria
Adtkd-Umod	Familial Juvenile Hyperuricemic Nephropathy 1
Umod-Related Adtkd	Umod-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Hyperuricemic Nephropathy, Familial Juvenile, 1	Gouty Nephropathy, Familial Juvenile
Medullary Cystic Kidney Disease 2, Autosomal Dominant	Admckd2
Autosomal Dominant Tubulointerstitial Kidney Disease Due To Umod Mutations	Adtkd Due To Umod Mutations
Autosomal Dominant Tubulointerstitial Kidney Disease, Umod-Related	Autosomal Dominant Medullary Cystic Kidney Disease Type 2
Umod-Associated Kidney Disease	Uromodulin Kidney Disease
Familial Gout-Kidney Disease	Familial Gouty Nephropathy
Umak	Umod-Related Kidney Disease
Uromodulin Storage Disease	Fjhn1
Gouty Nephropathy Familial Juvenile	Nephropathy Familial With Gout
Hyperuricemic Nephropathy, Familial Juvenile 1	Hyperuricemic Nephropathy, Familial Juvenile
Kidney Disease, Glomerulocystic, With Hyperuricemia And Isosthenuria	Nephropathy, Hyperuricemic, Juvenile, Familial, Type 1
Kidney Disease, Cystic, Medullary, Type 2	Medullary Cystic Kidney Disease Type Ii
Familial Juvenile Gout

Olecranon Bursitis

Bursitis Of Elbow	Bursitis Of Elbow Region
Capped Elbow	Elbow Bursitis
Miner'S Elbow	Miners' Elbow
Shoe Boil

Lesch-Nyhan Syndrome

Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency	LNS
Hprt Deficiency	Complete Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency
Hypoxanthine Guanine Phosphoribosyltransferase Deficiency	X-Linked Hyperuricemia
Choreoathetosis Self-Mutilation Syndrome	Hprt1 Deficiency
Hprt Deficiency, Complete	Deficiency Of Imp Pyrophosphorylase
Hgprt Deficiency	Lesch-Nyhan Disease
Hypoxanthine Guanine Phosphoribosyltransferase 1 Deficiency	Hg-Prt Deficiency
Hypoxanthine-Guanine-Phosphoribosyltransferase Deficiency	Lesch - Nyhan Syndrome
Hprt1 Disorders	Lesch Nyhan Syndrome
Complete Hprt Deficiency Complete	Lesch Nyhan Disease
Complete Hprt Deficiency	Deficiency Of Guanine Phosphoribosyltransferase
Deficiency Of Hypoxanthine Phosphoribosyltransferase	Hypoxanthine Phosphoribosyltransferase Deficiency
Juvenile Gout, Choreoathetosis, Mental Retardation Syndrome	Juvenile Hyperuricemia Syndrome
Lnd	Primary Hyperuricemia Syndrome
Total Hprt Deficiency	Total Hypoxanthine-Guanine Phosphoribosyl Transferase Deficiency
X-Linked Primary Hyperuricemia	X-Linked Uric Aciduria Enzyme Defect
Hprt Complete Deficiency	Hprt Deficiency Grade Iv
Hypoxanthine Guanine Phosphoribosyltransferase Complete Deficiency	Hypoxanthine Guanine Phosphoribosyltransferase Deficiency, Grade Iv
Hypoxanthine-Guanine Phosphoribosyltransferase 1 Deficiency	Hprt - [ Hypoxanthine-Guanine Phosphoribosyltransferase] Complete Deficiency
Total Hgprt - [Hypoxanthine-Guanine Phosphoribosyltransferase] Deficiency

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS13036	SLC17A3 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	SLC17A3	VGNC	VGNC:65219
Mus musculus	SLC17A3	MGD	MGI:2389216
Macaca mulatta	SLC17A3	VGNC	VGNC:77403
Bos taurus	SLC17A3	VGNC	VGNC:34698
Rattus norvegicus	SLC17A3	RGD	RGD:628815
Others	SLC17A3	NCBI

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