SLC17A3 - solute carrier family 17 member 3 Gene

Also Known as NPT4; GOUT4; UAQTL4

生物種: Homo sapiens

遺伝子タイプ: protein coding

遺伝子ID: 10786

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	参考文献	由来
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	参考文献	由来
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	参考文献	由来
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
400
420 a.a.

Protein Preferred Names	Protein Names
sodium-dependent phosphate transport protein 4	Na(+)/PI cotransporter 4

関連疾患

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

Pre-clinical Phase

Bioactive Molecules (1)

製品番号	製品名	製品効果	純度	Rare Diseases
HY-RS13036	SLC17A3 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

生物種	Symbol	由来	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