SLC17A1 (solute carrier family 17 member 1)

2014-11-01  

Identity

HGNC
LOCATION
6p22.2
LOCUSID
ALIAS
NAPI-1,NPT-1,NPT1
FUSION GENES

Other Information

Locus ID:

NCBI: 6568
MIM: 182308
HGNC: 10929
Ensembl: ENSG00000124568

Variants:

dbSNP: 6568
ClinVar: 6568
TCGA: ENSG00000124568
COSMIC: SLC17A1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000124568ENST00000244527Q14916
ENSG00000124568ENST00000377886E9PGW3
ENSG00000124568ENST00000468082Q14916
ENSG00000124568ENST00000476801Q14916

Expression (GTEx)

0
5
10
15
20
25
30
35
40
45

Pathways

PathwaySourceExternal ID
Transmembrane transport of small moleculesREACTOMER-HSA-382551
SLC-mediated transmembrane transportREACTOMER-HSA-425407
Transport of inorganic cations/anions and amino acids/oligopeptidesREACTOMER-HSA-425393
Organic anion transportersREACTOMER-HSA-428643

References

Pubmed IDYearTitleCitations
382228532024Examining the Association of Rare Allelic Variants in Urate Transporters SLC22A11, SLC22A13, and SLC17A1 with Hyperuricemia and Gout.1
382228532024Examining the Association of Rare Allelic Variants in Urate Transporters SLC22A11, SLC22A13, and SLC17A1 with Hyperuricemia and Gout.1
278993762017GWAS of clinically defined gout and subtypes identifies multiple susceptibility loci that include urate transporter genes.69
278993762017GWAS of clinically defined gout and subtypes identifies multiple susceptibility loci that include urate transporter genes.69
279066182016Expression of a human NPT1/SLC17A1 missense variant which increases urate export.6
279066182016Expression of a human NPT1/SLC17A1 missense variant which increases urate export.6
252522152015NPT1/SLC17A1 is a renal urate exporter in humans and its common gain-of-function variant decreases the risk of renal underexcretion gout.30
262903262015Polymorphisms in GCKR, SLC17A1 and SLC22A12 were associated with phenotype gout in Han Chinese males: a case-control study.11
265249672015Genetic variants of SLC17A1 are associated with cholesterol homeostasis and hyperhomocysteinaemia in Japanese men.5
266630702015[Polymorphisms of SLC17A1 gene and their interaction with alcohol drinking among Uygur patients with hyperuricemia].1
252522152015NPT1/SLC17A1 is a renal urate exporter in humans and its common gain-of-function variant decreases the risk of renal underexcretion gout.30
262903262015Polymorphisms in GCKR, SLC17A1 and SLC22A12 were associated with phenotype gout in Han Chinese males: a case-control study.11
265249672015Genetic variants of SLC17A1 are associated with cholesterol homeostasis and hyperhomocysteinaemia in Japanese men.5
266630702015[Polymorphisms of SLC17A1 gene and their interaction with alcohol drinking among Uygur patients with hyperuricemia].1
238526972014Population-specific effects of SLC17A1 genotype on serum urate concentrations and renal excretion of uric acid during a fructose load.2

Citation

Dessen P

SLC17A1 (solute carrier family 17 member 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/73300/slc17a1-(solute-carrier-family-17-member-1)