1. Gene
  2. SLC17A1 - solute carrier family 17 member 1 Gene

SLC17A1 - solute carrier family 17 member 1 Gene

Homo sapiens

Also known as NPT1; NPT-1; NAPI-1

Gene ID: 6568 | Gene type: protein coding

About SLC17A1

Cytogenetic location: 6p22.2 Genomic coordinates (GRCh38): 6:25,723,743-25,832,052 (from NCBI)

This gene has 4 transcripts (splice variants), 457 orthologues and 12 paralogues. Restricted expression toward kidney (RPKM 52.9).

Summary

Predicted to enable sialic acid transmembrane transporter activity. Involved in urate metabolic process and urate transport. Located in apical plasma membrane. [provided by Alliance of Genome Resources, Apr 2022]

SLC17A1 Products(1)

mRNA Protein Name
NM_005074.5 NP_005065.2 sodium-dependent phosphate transport protein 1
Gene Ontology
  • Biological Process
  • Cellular Component
Biological Process GO Annotation Evidence Reference Source
involved in sodium-dependent phosphate transport IDA
IDA: Inferred from direct assay
7826357 GOA
involved in urate metabolic process IMP
IMP: Inferred from mutant phenotype
19503597 GOA
involved in urate transport IMP
IMP: Inferred from mutant phenotype
25252215 GOA
Cellular Component GO Annotation Evidence Reference Source
located in apical plasma membrane IDA
IDA: Inferred from direct assay
25252215 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

SLC17A1 Protein Structure

MFS_1

MFS_1: Major Facilitator Superfamily (28 - 409)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 467 a.a.
Protein Preferred Names Protein Names

sodium-dependent phosphate transport protein 1

Na(+)/PI cotransporter 1

Related Diseases

Diseases Alias
Hyperuricemia

Blood Urate Raized

Uricacidemia

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

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

Fanconi Renotubular Syndrome 2

FRTS2

Fanconi Renotubular Syndrome, Type 2

Hyperuricemia, Hprt-Related

Hprt-Related Gout

Kelley-Seegmiller Syndrome

Hprt Deficiency, Partial

HRH

Gout, Hprt-Related

Hprt1 Deficiency, Partial

Hrpt-Related Hyperuricemia

Hprt Deficiency, Grade I

Hprt Partial Deficiency

Hprt-Related Hyperuricemia

Hprt1 Partial Deficiency

Hypoxanthine Guanine Phosphoribosyltransferase 1 Partial Deficiency

Hypoxanthine Guanine Phosphoribosyltransferase Deficiency, Grade I

Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency

Partial Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency

Hypoxanthine Guanine Phosphoribosyltransferase 1 Deficiency, Partial

Hyperuricemia, Hrpt-Related

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

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

Purine-Pyrimidine Metabolic Disorder

Inborn Errors Of Purine-Pyrimidine Metabolism

Disorder Of Purine Or Pyrimidine Metabolism

Fanconi Syndrome

Infantile Nephropathic Cystinosis

Adult Fanconi Syndrome

Congenital Fanconi Syndrome

De Toni-Fanconi Syndrome

Fanconi-De Toni Syndrome

Lignac-Fanconi Syndrome

Fanconi Renotubular Syndrome

Primary Fanconi Renotubular Syndrome

De Toni-Debre-Fanconi Syndrome

Adult Fanconi Anemia

Detoni Fanconi Syndrome

Fanconi-De-Toni Syndrome

Primary Fanconi Syndrome

Detoni-Debre-Fanconi Syndrome

Primary Fanconi Renal Syndrome

Fanconi Anemia

Cystinosis, Infantile Nephropathic

Fanconi-Bickel Syndrome

Renal Fanconi Syndrome

Lowe-Bickel Syndrome

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
Bos taurus SLC17A1 VGNC VGNC:34696
Felis catus SLC17A1 VGNC VGNC:65217
Rattus norvegicus SLC17A1 RGD RGD:620099
Macaca mulatta SLC17A1 VGNC VGNC:77401
Mus musculus SLC17A1 MGD MGI:103209
Canis familiaris SLC17A1 VGNC VGNC:46248