SLC17A5 (solute carrier family 17 member 5)

2014-08-01  

Identity

HGNC
LOCATION
6q13
LOCUSID
ALIAS
AST,ISSD,NSD,SD,SIALIN,SIASD,SLD
FUSION GENES

Other Information

Locus ID:

NCBI: 26503
MIM: 604322
HGNC: 10933
Ensembl: ENSG00000119899

Variants:

dbSNP: 26503
ClinVar: 26503
TCGA: ENSG00000119899
COSMIC: SLC17A5

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000119899ENST00000355773Q9NRA2

Expression (GTEx)

0
10
20
30
40
50
60

Pathways

PathwaySourceExternal ID
LysosomeKEGGko04142
LysosomeKEGGhsa04142
Metabolism of proteinsREACTOMER-HSA-392499
Post-translational protein modificationREACTOMER-HSA-597592
Asparagine N-linked glycosylationREACTOMER-HSA-446203
Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent proteinREACTOMER-HSA-446193
Synthesis of substrates in N-glycan biosythesisREACTOMER-HSA-446219
Sialic acid metabolismREACTOMER-HSA-4085001
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
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
186952522008Identification of a vesicular aspartate transporter.32
155102122004Functional characterization of wild-type and mutant human sialin.29
227784042012Sialin (SLC17A5) functions as a nitrate transporter in the plasma membrane.28
155163372005Varied mechanisms underlie the free sialic acid storage disorders.27
206280862010Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.11
150066952004Sialin expression in the CNS implicates extralysosomal function in neurons.9
217811152011Functional characterization of vesicular excitatory amino acid transport by human sialin.9
278725102016Association of the Aspartate Aminotransferase to Alanine Aminotransferase Ratio with BNP Level and Cardiovascular Mortality in the General Population: The Yamagata Study 10-Year Follow-Up.8

Citation

Dessen P

SLC17A5 (solute carrier family 17 member 5)

Atlas Genet Cytogenet Oncol Haematol. 2014-08-01

Online version: http://atlasgeneticsoncology.org/gene/54625/slc17a5