SLC5A6 (solute carrier family 5 member 6)

2013-02-01  

Identity

HGNC
LOCATION
2p23.3
LOCUSID
ALIAS
NERIB,SMVT
FUSION GENES

Other Information

Locus ID:

NCBI: 8884
MIM: 604024
HGNC: 11041
Ensembl: ENSG00000138074

Variants:

dbSNP: 8884
ClinVar: 8884
TCGA: ENSG00000138074
COSMIC: SLC5A6

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000138074ENST00000310574Q9Y289
ENSG00000138074ENST00000401463E7EW78
ENSG00000138074ENST00000408041Q9Y289
ENSG00000138074ENST00000412471E7EMX0
ENSG00000138074ENST00000414408E7EW41
ENSG00000138074ENST00000426119E7ERE1
ENSG00000138074ENST00000428518E7EP02
ENSG00000138074ENST00000430186E7EXC0
ENSG00000138074ENST00000432106E7ENG0
ENSG00000138074ENST00000442731Q9HD19
ENSG00000138074ENST00000445802E7ENN0

Expression (GTEx)

0
10
20
30
40
50
60
70
80
90

Pathways

PathwaySourceExternal ID
Vitamin digestion and absorptionKEGGko04977
Vitamin digestion and absorptionKEGGhsa04977
Transmembrane transport of small moleculesREACTOMER-HSA-382551
SLC-mediated transmembrane transportREACTOMER-HSA-425407
Transport of vitamins, nucleosides, and related moleculesREACTOMER-HSA-425397
MetabolismREACTOMER-HSA-1430728
Metabolism of vitamins and cofactorsREACTOMER-HSA-196854
Metabolism of water-soluble vitamins and cofactorsREACTOMER-HSA-196849
Vitamin B5 (pantothenate) metabolismREACTOMER-HSA-199220
Biotin transport and metabolismREACTOMER-HSA-196780

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
198984822009Genetic variants in TPMT and COMT are associated with hearing loss in children receiving cisplatin chemotherapy.84
179043412008Holocarboxylase synthetase regulates expression of biotin transporters by chromatin remodeling events at the SMVT locus.36
126464172003Biotin uptake by human intestinal and liver epithelial cells: role of the SMVT system.25
169599472007Molecular mechanisms involved in the adaptive regulation of human intestinal biotin uptake: A study of the hSMVT system.24
192119162009Membrane targeting and intracellular trafficking of the human sodium-dependent multivitamin transporter in polarized epithelial cells.21
209802652011Surprising substrate versatility in SLC5A6: Na+-coupled I- transport by the human Na+/multivitamin transporter (hSMVT).16
171352992007Regulation of the human biotin transporter hSMVT promoter by KLF-4 and AP-2: confirmation of promoter activity in vivo.14
258099832015Major involvement of Na(+) -dependent multivitamin transporter (SLC5A6/SMVT) in uptake of biotin and pantothenic acid by human brain capillary endothelial cells.14
155619722005Biotin uptake by human proximal tubular epithelial cells: cellular and molecular aspects.13
167498652006Functional characterization of sodium-dependent multivitamin transporter in MDCK-MDR1 cells and its utilization as a target for drug delivery.11

Citation

Dessen P

SLC5A6 (solute carrier family 5 member 6)

Atlas Genet Cytogenet Oncol Haematol. 2013-02-01

Online version: http://atlasgeneticsoncology.org/gene/53168/slc5a6