SLC17A5 (solute carrier family 17 member 5)

2014-08-01 Affiliation

Identity

HGNC

SLC17A5

LOCATION

6q13

LOCUSID

26503

ALIAS

AST,ISSD,NSD,SD,SIALIN,SIASD,SLD

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: 26503
MIM: 604322
HGNC: 10933
Ensembl: ENSG00000119899

Variants:

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

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000119899	ENST00000355773	Q9NRA2

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
Lysosome	KEGG	ko04142
Lysosome	KEGG	hsa04142
Metabolism of proteins	REACTOME	R-HSA-392499
Post-translational protein modification	REACTOME	R-HSA-597592
Asparagine N-linked glycosylation	REACTOME	R-HSA-446203
Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein	REACTOME	R-HSA-446193
Synthesis of substrates in N-glycan biosythesis	REACTOME	R-HSA-446219
Sialic acid metabolism	REACTOME	R-HSA-4085001
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
37673303	2023	Serum alanine transaminase is predictive of fasting and postprandial insulin and glucagon concentrations in type 2 diabetes.	0
37673303	2023	Serum alanine transaminase is predictive of fasting and postprandial insulin and glucagon concentrations in type 2 diabetes.	0
28187749	2017	Identification of a large intronic transposal insertion in SLC17A5 causing sialic acid storage disease.	9
28187749	2017	Identification of a large intronic transposal insertion in SLC17A5 causing sialic acid storage disease.	9
27872510	2016	Association 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.	42
27872510	2016	Association 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.	42
22334707	2012	Successful prediction of substrate-binding pocket in SLC17 transporter sialin.	5
22778404	2012	Sialin (SLC17A5) functions as a nitrate transporter in the plasma membrane.	71
22334707	2012	Successful prediction of substrate-binding pocket in SLC17 transporter sialin.	5
22778404	2012	Sialin (SLC17A5) functions as a nitrate transporter in the plasma membrane.	71
21781115	2011	Functional characterization of vesicular excitatory amino acid transport by human sialin.	16
21781115	2011	Functional characterization of vesicular excitatory amino acid transport by human sialin.	16
20379614	2010	Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.	78
20424173	2010	Structure-function studies of the SLC17 transporter sialin identify crucial residues and substrate-induced conformational changes.	9
20628086	2010	Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.	15

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/cancer-prone-explorer/deep-insight-explorer/js/humanGenome