SLC17A1 (solute carrier family 17 member 1)

2014-11-01 Affiliation

Identity

HGNC

SLC17A1

LOCATION

6p22.2

LOCUSID

6568

ALIAS

NAPI-1,NPT-1,NPT1

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

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

Variants:

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

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000124568	ENST00000244527	Q14916
ENSG00000124568	ENST00000377886	E9PGW3
ENSG00000124568	ENST00000468082	Q14916
ENSG00000124568	ENST00000476801	Q14916

Expression (GTEx)

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

Pathways

Pathway	Source	External ID
Transmembrane transport of small molecules	REACTOME	R-HSA-382551
SLC-mediated transmembrane transport	REACTOME	R-HSA-425407
Transport of inorganic cations/anions and amino acids/oligopeptides	REACTOME	R-HSA-425393
Organic anion transporters	REACTOME	R-HSA-428643

References

Pubmed ID	Year	Title	Citations
19571809	2009	Common variants on chromosome 6p22.1 are associated with schizophrenia.	407
19503597	2009	Meta-analysis of 28,141 individuals identifies common variants within five new loci that influence uric acid concentrations.	228
20884846	2010	Multiple genetic loci influence serum urate levels and their relationship with gout and cardiovascular disease risk factors.	135
20927387	2010	A genome-wide association study of red blood cell traits using the electronic medical record.	76
19204726	2009	Transcriptomic and genetic studies identify IL-33 as a candidate gene for Alzheimer's disease.	63
19890391	2009	Common polymorphisms influencing serum uric acid levels contribute to susceptibility to gout, but not to coronary artery disease.	34
27899376	2017	GWAS of clinically defined gout and subtypes identifies multiple susceptibility loci that include urate transporter genes.	34
20566650	2010	Type 1 sodium-dependent phosphate transporter (SLC17A1 Protein) is a Cl(-)-dependent urate exporter.	31
22541845	2012	The renal urate transporter SLC17A1 locus: confirmation of association with gout.	22
19556210	2010	Sodium-dependent phosphate cotransporter type 1 sequence polymorphisms in male patients with gout.	19

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