Description: Homo sapiens solute carrier family 5 (sodium/glucose cotransporter), member 1 (SLC5A1), transcript variant 2, mRNA. RefSeq Summary (NM_001256314): This gene encodes a member of the sodium-dependent glucose transporter (SGLT) family. The encoded integral membrane protein is the primary mediator of dietary glucose and galactose uptake from the intestinal lumen. Mutations in this gene have been associated with glucose-galactose malabsorption. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]. Transcript (Including UTRs) Position: hg19 chr22:32,455,157-32,509,011 Size: 53,855 Total Exon Count: 14 Strand: + Coding Region Position: hg19 chr22:32,464,492-32,506,200 Size: 41,709 Coding Exon Count: 11
ID:SC5A1_HUMAN DESCRIPTION: RecName: Full=Sodium/glucose cotransporter 1; Short=Na(+)/glucose cotransporter 1; AltName: Full=High affinity sodium-glucose cotransporter; AltName: Full=Solute carrier family 5 member 1; 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. INTERACTION: P00533:EGFR; NbExp=3; IntAct=EBI-1772443, EBI-297353; SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein. TISSUE SPECIFICITY: Expressed mainly in intestine and kidney. PTM: N-glycosylation is not necessary for the cotransporter function. DISEASE: 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. SIMILARITY: Belongs to the sodium:solute symporter (SSF) (TC 2.A.21) family.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
Pfam Domains: PF00474 - Sodium:solute symporter family
ModBase Predicted Comparative 3D Structure on P13866
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
HV708954 - JP 2012506450-A/52: Methods for treating eye disorders. AK312948 - Homo sapiens cDNA, FLJ93403, Homo sapiens solute carrier family 5 (sodium/glucosecotransporter), member 1 (SLC5A1), mRNA. CR456579 - Homo sapiens SLC5A1 full length open reading frame (ORF) cDNA clone (cDNA clone C22ORF:pGEM.SLC5A1.V4). M24847 - Human Na+/glucose cotransporter 1 mRNA, complete cds. BC141435 - Synthetic construct Homo sapiens clone IMAGE:100014726, MGC:175354 solute carrier family 5 (sodium/glucose cotransporter), member 1 (SLC5A1) mRNA, encodes complete protein. BC146580 - Synthetic construct Homo sapiens clone IMAGE:100014825, MGC:180139 solute carrier family 5 (sodium/glucose cotransporter), member 1 (SLC5A1) mRNA, encodes complete protein. BC139839 - Homo sapiens solute carrier family 5 (sodium/glucose cotransporter), member 1, mRNA (cDNA clone IMAGE:100000434), partial cds. CU013464 - Homo sapiens SLC5A1, mRNA (cDNA clone IMAGE:100000434), complete cds, without stop codon, in Gateway system. BC139838 - Synthetic construct Homo sapiens clone IMAGE:100000530, MGC:164683 solute carrier family 5 (sodium/glucose cotransporter), member 1 (SLC5A1) mRNA, encodes complete protein. CU013176 - Homo sapiens SLC5A1, mRNA (cDNA clone IMAGE:100000530), complete cds, with stop codon, in Gateway system. AB463272 - Synthetic construct DNA, clone: pF1KB8725, Homo sapiens SLC5A1 gene for solute carrier family 5 (sodium/glucose cotransporter), member 1, without stop codon, in Flexi system. AK316184 - Homo sapiens cDNA, FLJ79083 complete cds, highly similar to Sodium/glucose cotransporter 1. AK297665 - Homo sapiens cDNA FLJ55281 complete cds, highly similar to Sodium/glucose cotransporter 1. JD323742 - Sequence 304766 from Patent EP1572962. JD164290 - Sequence 145314 from Patent EP1572962. JD306143 - Sequence 287167 from Patent EP1572962. JD232928 - Sequence 213952 from Patent EP1572962. JD281722 - Sequence 262746 from Patent EP1572962. JD232392 - Sequence 213416 from Patent EP1572962.
Biochemical and Signaling Pathways
Reactome (by CSHL, EBI, and GO)
Protein P13866 (Reactome details) participates in the following event(s):
R-HSA-8932955 SLC5A1 cotransports Glc,Gal with Na+ from extracellular region to cytosol R-HSA-429613 SLC5As, NAGLT1 cotransport Glc and Na+ from extracellular region to cytosol R-HSA-8981373 Intestinal hexose absorption R-HSA-189200 Cellular hexose transport R-HSA-8963676 Intestinal absorption R-HSA-425407 SLC-mediated transmembrane transport R-HSA-8963743 Digestion and absorption R-HSA-382551 Transport of small molecules
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