Protein name: SMIT1 Aliases: None Substrates: myoinositol (glucose) Transport type: Cotransporter / Na+ Tissue and cellular expression: brain, heart, kidney, lung Subcellular expression: N/D Disease: Down?s syndrome?, OMIM 600444 Locus: 21q22.11 Sequence ID: NP_008864.3, NM_006933.4 Gene ID: 6526 Splice variants: splicing within, and distal to exon 2 leads to 3 transcripts (SMIT1, SMIT2, SMIT3), SMIT2 and 3 lack the 14th TMH

SC5A3_HUMAN (UniProt)

Gene names: SLC5A3
Protein names and data: SC5A3_HUMAN, Full=Sodium/myo-inositol cotransporter;Short=Na(+)/myo-inositol cotransporter, Full=Sodium/myo-inositol transporter 1;Short=SMIT1;Full=Solute carrier family 5 member 3; Length: 718 a.a., Mass: 79694 Da,
fasta formatted sequence

Function: Prevents intracellular accumulation of high concentrations of myo-inositol (an osmolyte) that result in impairment of cellular function
Cellular location: Membrane; Multi-pass membrane protein

Database cross-references

UniProt: P53794
NextBio: 25391
OMIM: 600444
Ensembl: ENST00000381151
GeneCard: GC21P034083
PharmGenUCSF: SLC5A3
Guide to Pharmacology: SLC5A3 (924)
Sodium myo-inositol cotransporter transporters (924)

HGNC: HGNC:11038

Genetic variants

See also Ensembl:ENST00000381151