Co-transport proteins of mammalian cell membranes had eluded efforts of purification with classical biochemical methods until the late 1980s. These proteins had proven difficult to isolate because they contain hydrophilic and hydrophobic sequences and exist in membranes only in very low abundance (<0.2% of membrane proteins). The rabbit form of SGLT1 was the first mammalian co-transport protein ever to be cloned and sequenced, and this was reported in 1987. To circumvent the difficulties with traditional isolation methods, a novel expression cloning technique was used. Size-fractionation of large amounts of rabbit intestinal mRNA with preparative gel electrophoresis were then sequentially injected into Xenopus oocytes to ultimately find the RNA species that induced the expression of sodium-glucose cotransport.
SLC5A1 is important because of its role in the absorption of glucose and sodium, however, mutations in the gene can cause serious effects. A mutation in the SLC5A1 gene can cause problems creating the SGLT1 protein, leading to a rare glucose-galactose malabsorption disease. Glucose-galactose malabsorption occurs when the lining of the intestinal cells can't take in glucose and galactose which prevents the use of those molecules in catabolism and anabolism. The disease has symptoms that consist of watery and/or acidic diarrhea which is the result of water retention in the intestinal lumen and osmotic loss created by non-absorbed glucose, galactose and sodium. Glucose-Galactose malabsorption can cause death, due to loss of water from diarrhea, if the disease isn't treated soon. To counteract the disease, oral rehydration therapy is performed using sodium, glucose, and water for intestinal reabsorption.
^Sabino-Silva R, Mori RC, David-Silva A, Okamoto MM, Freitas HS, Machado UF (2010). "The Na(+)/glucose cotransporters: from genes to therapy". Brazilian Journal of Medical and Biological Research. 43 (11): 1019–1026. doi:10.1590/S0100-879X2010007500115. PMID21049241.
^Xie J, Guo Q (July 2004). "Par-4 inhibits choline uptake by interacting with CHT1 and reducing its incorporation on the plasma membrane". Journal of Biological Chemistry. 279 (27): 28266–28275. doi:10.1074/jbc.M401495200. PMID15090548.
Turk E, Zabel B, Mundlos S, Dyer J, Wright EM (1991). "Glucose/galactose malabsorption caused by a defect in the Na+/glucose cotransporter". Nature. 350 (6316): 354–356. doi:10.1038/350354a0. PMID2008213.
Delézay O, Baghdiguian S, Fantini J (1995). "The development of Na(+)-dependent glucose transport during differentiation of an intestinal epithelial cell clone is regulated by protein kinase C". Journal of Biological Chemistry. 270 (21): 12536–12541. doi:10.1074/jbc.270.21.12536. PMID7759499.
Turk E, Klisak I, Bacallao R, Sparkes RS, Wright EM (1993). "Assignment of the human Na+/glucose cotransporter gene SGLT1 to chromosome 22q13.1". Genomics. 17 (3): 752–754. doi:10.1006/geno.1993.1399. PMID8244393.
Martín MG, Turk E, Lostao MP, Kerner C, Wright EM (1996). "Defects in Na+/glucose cotransporter (SGLT1) trafficking and function cause glucose-galactose malabsorption". Nature Genetics. 12 (2): 216–220. doi:10.1038/ng0296-216. PMID8563765.
Turk E, Kerner CJ, Lostao MP, Wright EM (1996). "Membrane topology of the human Na+/glucose cotransporter SGLT1". Journal of Biological Chemistry. 271 (4): 1925–1934. doi:10.1074/jbc.271.4.1925. PMID8567640.
Lam JT, Martín MG, Turk E, Hirayama BA, Bosshard NU, Steinmann B, Wright EM (1999). "Missense mutations in SGLT1 cause glucose-galactose malabsorption by trafficking defects". Biochimica et Biophysica Acta. 1453 (2): 297–303. doi:10.1016/s0925-4439(98)00109-4. PMID10036327.
Dunham I, Shimizu N, Roe BA, Chissoe S, Hunt AR, Collins JE, Bruskiewich R, Beare DM, Clamp M, Smink LJ, Ainscough R, Almeida JP, Babbage A, Bagguley C, Bailey J, Barlow K, Bates KN, Beasley O, Bird CP, Blakey S, Bridgeman AM, Buck D, Burgess J, Burrill WD, O'Brien KP (1999). "The DNA sequence of human chromosome 22". Nature. 402 (6761): 489–495. doi:10.1038/990031. PMID10591208.
Obermeier S, Hüselweh B, Tinel H, Kinne RH, Kunz C (2001). "Expression of glucose transporters in lactating human mammary gland epithelial cells". European Journal of Nutrition. 39 (5): 194–200. doi:10.1007/s003940070011. PMID11131365.
Kasahara M, Maeda M, Hayashi S, Mori Y, Abe T (2001). "A missense mutation in the Na(+)/glucose cotransporter gene SGLT1 in a patient with congenital glucose-galactose malabsorption: normal trafficking but inactivation of the mutant protein". Biochimica et Biophysica Acta. 1536 (2–3): 141–147. doi:10.1016/s0925-4439(01)00043-6. PMID11406349.
Roll P, Massacrier A, Pereira S, Robaglia-Schlupp A, Cau P, Szepetowski P (2002). "New human sodium/glucose cotransporter gene (KST1): identification, characterization, and mutation analysis in ICCA (infantile convulsions and choreoathetosis) and BFIC (benign familial infantile convulsions) families". Gene. 285 (1–2): 141–148. doi:10.1016/S0378-1119(02)00416-X. PMID12039040.
Ikari A, Nakano M, Kawano K, Suketa Y (2002). "Up-regulation of sodium-dependent glucose transporter by interaction with heat shock protein 70". Journal of Biological Chemistry. 277 (36): 33338–33343. doi:10.1074/jbc.M200310200. PMID12082088.