1. Gene
  2. SLC17A3 - solute carrier family 17 member 3 Gene

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

SLC17A3 Protein Structure

MFS_1

MFS_1: Major Facilitator Superfamily (107 - 353)

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  • 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

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