SLCtables

SLC5A1

Protein name: SGLT1 Aliases: None Substrates: glucose and galactose (urea and water) Transport type: Cotransporter / Na+, (H+), F / Na+, (H+), Ch / urea, water Tissue and cellular expression: small intestine, trachea, kidney, heart, brain, testes, prostrate Subcellular expression: N/D Disease: glucose galactose malabsorption, OMIM 182380 Locus: 22q12.3 Sequence ID: NP_000334.1, NM_000343.3 NP_001243243.1, NM_001256314.1 Gene ID: 6523 Splice variants: N/D

SC5A1_HUMAN (UniProt)

Gene names: SLC5A1, NAGT, SGLT1
Protein names and data: SC5A1_HUMAN, Full=Sodium/glucose cotransporter 1;Short=Na(+)/glucose cotransporter 1, Full=High affinity sodium-glucose cotransporter;Full=Solute carrier family 5 member 1; Length: 664 a.a., Mass: 73498 Da,
fasta formatted sequence
Function: Actively transports glucose into cells by Na(+) cotransport with a Na(+) to glucose coupling ratio of 2:1. Efficient substrate transport in mammalian kidney is provided by the concerted action of a low affinity high capacity and a high affinity low capacity Na(+)/glucose cotransporter arranged in series along kidney proximal tubules
Disease: (OMIM: 182380 606824) Defects in SLC5A1 are the cause of congenital glucose/galactose malabsorption (GGM) [MIM:606824]. GGM is an intestinal monosaccharide transporter deficiency. It is an autosomal recessive disorder manifesting itself within the first weeks of life. It is characterized by severe diarrhea and dehydration which are usually fatal unless glucose and galactose are eliminated from the diet
Cellular location: Membrane; Multi-pass membrane protein
Tissue specificity: Expressed mainly in intestine and kidney

Database cross-references

UniProt: P13866
NextBio: 25375
OMIM: 182380 606824
Ensembl: ENST00000266088
GeneCard: GC22P032043
TCDB: 2.A.21.3.1
PharmGenUCSF: SLC5A1
Guide to Pharmacology: SLC5A1 (915)
Hexose transporter family (915)
HGNC: HGNC:11036

Genetic variants

See also Ensembl:ENST00000266088

28 - 28 D -> G (in GGM). VAR_013630
28 - 28 D -> N (in GGM). VAR_007168
51 - 51 N -> S (in dbSNP:rs17683011). VAR_029147 17683011
135 - 135 R -> W (in GGM; loss of activity). VAR_021502
318 - 318 G -> R (in GGM). VAR_021503
411 - 411 A -> T (in dbSNP:rs17683430). VAR_029148 17683430
468 - 468 A -> V (in GGM). VAR_021504