SLC17A1 - solute carrier family 17 member 1 Gene

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

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 6568

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
Biological Process GO Annotation Evidence References 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 References 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

SLC17A1 Antibodies

Cat. No. Product Name Application Reactivity
HY-P85302 NPT1 Antibody (YA4994) WB, ELISA Human

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
Others SLC17A1 NCBI