SLC5A1

• sodium-glucose cotransporter 1

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出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2016/04/26 23:27:19」(JST)

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Solute carrier family 5 (sodium/glucose cotransporter), member 1
Identifiers
Symbols	SLC5A1 ; D22S675; NAGT; SGLT1
External IDs	OMIM: 182380 MGI: 107678 HomoloGene: 55456 ChEMBL: 4979 GeneCards: SLC5A1 Gene
Gene ontology Molecular function • glucose:sodium symporter activity • protein binding Cellular component • plasma membrane • integral component of plasma membrane • cell-cell junction • apical plasma membrane • brush border membrane • extracellular exosome Biological process • metanephros development • carbohydrate metabolic process • sodium ion transport • hexose transport • glucose transport • small molecule metabolic process • intestinal absorption • transmembrane transport Sources: Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	6523	20537
Ensembl	ENSG00000100170	ENSMUSG00000011034
UniProt	P13866	Q8C3K6
RefSeq (mRNA)	NM_000343	NM_019810
RefSeq (protein)	NP_000334	NP_062784
Location (UCSC)	Chr 22: 32.04 – 32.11 Mb	Chr 5: 33.1 – 33.16 Mb
PubMed search	[1]	[2]

Sodium/glucose cotransporter 1 also known as solute carrier family 5 member 1 is a protein that in humans is encoded by the SLC5A1 gene.

Function

Glucose transporters are integral membrane proteins that mediate the transport of glucose and structurally related substances across cellular membranes. The role of the sodium-glucose cotransporters is to not only absorb glucose, but to also absorb sodium and to then reabsorb the sodium and glucose from the tubule of the nephron. Two families of glucose transporter have been identified: the facilitated diffusion glucose transporter family (GLUT family), also known as 'uniporters,' and the sodium-dependent glucose transporter family (SGLT family), also known as 'cotransporters' or 'symporters. The SLC5A1 gene encodes a protein that is involved in the active transport of glucose and galactose into eukaryotic and some prokaryotic cells.

Cloning

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.

Mutations

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 disaes, oral rehydration therapy is performed using sodium, glucose, and water for intestinal reabsorption.

Tissue distribution

The SLC5A1 cotransporter is mainly expressed in the lumen of the small intestine, kidney, parotid glands, submandibular glands and in the heart.

See also

• Solute carrier family
• SGLT Family
• SGLT2

Interactions

SLC5A1 has been shown to interact with PAWR.

References

Further reading

• Anderson NL, Anderson NG (2003). "The human plasma proteome: history, character, and diagnostic prospects". Mol. Cell Proteomics 1 (11): 845–67. doi:10.1074/mcp.R200007-MCP200. PMID 12488461. 
• 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): 354–6. doi:10.1038/350354a0. PMID 2008213. 
• Hediger MA, Turk E, Wright EM (1989). "Homology of the human intestinal Na+/glucose and Escherichia coli Na+/proline cotransporters". Proc. Natl. Acad. Sci. U.S.A. 86 (15): 5748–52. doi:10.1073/pnas.86.15.5748. PMC 297707. PMID 2490366. 
• 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". J. Biol. Chem. 270 (21): 12536–41. doi:10.1074/jbc.270.21.12536. PMID 7759499. 
• 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): 752–4. doi:10.1006/geno.1993.1399. PMID 8244393. 
• Martín MG, Turk E, Lostao MP, Kerner C, Wright EM (1996). "Defects in Na+/glucose cotransporter (SGLT1) trafficking and function cause glucose-galactose malabsorption". Nat. Genet. 12 (2): 216–20. doi:10.1038/ng0296-216. PMID 8563765. 
• Turk E, Kerner CJ, Lostao MP, Wright EM (1996). "Membrane topology of the human Na+/glucose cotransporter SGLT1". J. Biol. Chem. 271 (4): 1925–34. doi:10.1074/jbc.271.4.1925. PMID 8567640. 
• 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". Biochim. Biophys. Acta 1453 (2): 297–303. doi:10.1016/s0925-4439(98)00109-4. PMID 10036327. 
• 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): 489–95. doi:10.1038/990031. PMID 10591208. 
• 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. PMID 11131365. 
• 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". Biochim. Biophys. Acta 1536 (2–3): 141–7. doi:10.1016/s0925-4439(01)00043-6. PMID 11406349. 
• 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): 141–8. doi:10.1016/S0378-1119(02)00416-X. PMID 12039040. 
• Ikari A, Nakano M, Kawano K, Suketa Y (2002). "Up-regulation of sodium-dependent glucose transporter by interaction with heat shock protein 70". J. Biol. Chem. 277 (36): 33338–43. doi:10.1074/jbc.M200310200. PMID 12082088. 

This article incorporates text from the United States National Library of Medicine, which is in the public domain.

UpToDate Contents

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English Journal

• SPAK-Sensitive Regulation of Glucose Transporter SGLT1.

• Elvira B1, Blecua M, Luo D, Yang W, Shumilina E, Munoz C, Lang F.
• The Journal of membrane biology.J Membr Biol.2014 Nov;247(11):1191-7. doi: 10.1007/s00232-014-9719-z. Epub 2014 Aug 27.
• The WNK-dependent STE20/SPS1-related proline/alanine-rich kinase SPAK is a powerful regulator of ion transport. The study explored whether SPAK similarly regulates nutrient transporters, such as the Na(+)-coupled glucose transporter SGLT1 (SLC5A1). To this end, SGLT1 was expressed in Xenopus oocytes
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• Transcriptomic changes during the pre-receptive to receptive transition in human endometrium detected by RNA-Seq.

• Hu S1, Yao G, Wang Y, Xu H, Ji X, He Y, Zhu Q, Chen Z, Sun Y.
• The Journal of clinical endocrinology and metabolism.J Clin Endocrinol Metab.2014 Sep 22:jc20142155. [Epub ahead of print]
• Context: Identifying novel molecular markers for assessing endometrial receptivity is necessary for understanding human implantation and may help in improving the clinical outcome of in vitro fertilization (IVF). Objective: We aimed to compare the gene expression profiles of the pre-receptive versus
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• Improvements in growth performance, bone mineral status and nutrient digestibility in pigs following the dietary inclusion of phytase are accompanied by modifications in intestinal nutrient transporter gene expression.

• Vigors S1, Sweeney T2, O'Shea CJ1, Browne JA2, O'Doherty JV1.
• The British journal of nutrition.Br J Nutr.2014 Sep 14;112(5):688-97. doi: 10.1017/S0007114514001494. Epub 2014 Jul 7.
• Phytase (PHY) improves growth performance, nutrient digestibility and bone structure in pigs; however, little is known about its effects on intestinal nutrient transporter gene expression. In the present study, a 44 d experiment was carried out using forty-eight pigs (11·76 (sem 0·75) kg) assigned
• PMID 24998244

Japanese Journal

• Gene expression differences in the duodenum of 129/Sv and DBA/2 mice compared with that of C57BL/6J mice

• The Journal of Toxicological Sciences 39(1), 173-177, 2014
• NAID 130004447110

• Select Nutrients in the Uterine Lumen of Sheep and Pigs Affect Conceptus Development

• The Journal of reproduction and development 58(2), 180-188, 2012-04-01
• NAID 10030753562

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