SLC5A3 (solute carrier family 5 member 3)

2007-02-01 Affiliation

Identity

HGNC

SLC5A3

LOCATION

21q22.11

LOCUSID

6526

ALIAS

BCW2,SMIT,SMIT1,SMIT2

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: 6526
MIM: 600444
HGNC: 11038
Ensembl: ENSG00000198743

Variants:

dbSNP: 6526
ClinVar: 6526
TCGA: ENSG00000198743
COSMIC: SLC5A3

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000198743	ENST00000381151	P53794

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
Hexose transport	REACTOME	R-HSA-189200
Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds	REACTOME	R-HSA-425366
Na+-dependent glucose transporters	REACTOME	R-HSA-428808
Inositol transporters	REACTOME	R-HSA-429593
Metabolism	REACTOME	R-HSA-1430728
Metabolism of carbohydrates	REACTOME	R-HSA-71387

References

Pubmed ID	Year	Title	Citations
19198609	2009	Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants.	460
20971364	2010	A multilocus genetic risk score for coronary heart disease: case-control and prospective cohort analyses.	181
17178845	2006	SLC5A8 triggers tumor cell apoptosis through pyruvate-dependent inhibition of histone deacetylases.	45
27217553	2016	Osmoregulatory inositol transporter SMIT1 modulates electrical activity by adjusting PI(4,5)P2 levels.	16
19032932	2009	Human sodium/inositol cotransporter 2 (SMIT2) transports inositols but not glucose in L6 cells.	10
20738937	2010	Additive effect of multiple genetic variants on the risk of coronary artery disease.	8
28128227	2017	Sodium-myoinositol cotransporter-1, SMIT1, mediates the production of reactive oxygen species induced by hyperglycemia in the heart.	8
25756525	2015	Hypotonic activation of the myo-inositol transporter SLC5A3 in HEK293 cells probed by cell volumetry, confocal and super-resolution microscopy.	7
28793216	2017	SMIT1 Modifies KCNQ Channel Function and Pharmacology by Physical Interaction with the Pore.	7
23207989	2012	Down-regulation of the myoinositol transporter SMIT by JAK2.	2

Citation

Dessen P

SLC5A3 (solute carrier family 5 member 3)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/45558/slc5a3