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    SLC5A1 solute carrier family 5 (sodium/glucose cotransporter), member 1 [ Homo sapiens ]

    Gene ID: 6523, updated on 19-May-2012
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    Summary

    Official Symbol
    SLC5A1provided by HGNC
    Official Full Name
    solute carrier family 5 (sodium/glucose cotransporter), member 1provided by HGNC
    Primary source
    HGNC:11036
    Locus tag
    RP1-127L4.1
    See related
    Ensembl:ENSG00000100170; HPRD:01668; MIM:182380; Vega:OTTHUMG00000030768
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    NAGT; SGLT1; D22S675
    Summary
    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]
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    Genomic context

    Location :
    22q12.3
    Sequence :
    Chromosome: 22; NC_000022.10 (32439019..32509016)
    See SLC5A1 in Epigenomics, MapViewer

    Chromosome 22 - NC_000022.10Genomic Context describing neighboring genes Neighboring gene chromosome 22 open reading frame 24 Neighboring gene tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, eta polypeptide Neighboring gene ribosomal protein S17 pseudogene 16 Neighboring gene adaptor-related protein complex 1, beta 1 subunit pseudogene 1 Neighboring gene adaptor-related protein complex 1, beta 1 subunit pseudogene 2

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    Genomic regions, transcripts, and products

    Go to nucleotideGraphics FASTA GenBank

    Go to reference sequence details
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    Bibliography

    Related articles in PubMed

    1. The structural pathway for water permeation through sodium-glucose cotransporters. Sasseville LJ, et al. Biophys J, 2011 Oct 19. PMID 22004742.
    2. Stimulation of the glucose carrier SGLT1 by JAK2. Hosseinzadeh Z, et al. Biochem Biophys Res Commun, 2011 May 6. PMID 21406183.
    3. Determination of the Na(+)/glucose cotransporter (SGLT1) turnover rate using the ion-trap technique. Longpré JP, et al. Biophys J, 2011 Jan 5. PMID 21190656.
    4. Regulation of Na(+)-coupled glucose carrier SGLT1 by human papillomavirus 18 E6 protein. Leiprecht N, et al. Biochem Biophys Res Commun, 2011 Jan 14. PMID 21156162.
    5. Molecular determinants of renal glucose reabsorption. Focus on "Glucose transport by human renal Na+/D-glucose cotransporters SGLT1 and SGLT2". Vallon V. Am J Physiol Cell Physiol, 2011 Jan. PMID 21048164.

    See all (66) citations in PubMed

    See citations in PubMed for homologs of this gene provided by HomoloGene

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    1. the structural basis of cotransporter water permeability
      Title: The structural pathway for water permeation through sodium-glucose cotransporters.
    2. JAK2 upregulates SGLT1 activity which may play a role in the effect of JAK2 during ischemia and malignancy.
      Title: Stimulation of the glucose carrier SGLT1 by JAK2.
    3. Polyphenols, phenolic acids and tannins from strawberry and apple are potent inhibitors of GLUT2 and SGLT1 at concentrations predicted after dietary ingestion.
      Title: Polyphenols and phenolic acids from strawberry and apple decrease glucose uptake and transport by human intestinal Caco-2 cells.
    4. An independent estimation of the turnover rate for human SGLT1 expressed in Xenopus laevis oocytes, was obtained applying the ion-trap technique.
      Title: Determination of the Na(+)/glucose cotransporter (SGLT1) turnover rate using the ion-trap technique.
    5. Glucose-galactose malabsorption is life-threatening newborn diarrhea caused by mutations in the Na(+) /glucose cotransporter gene SLC5A1 that described herein.
      Title: Multiple sequence variations in SLC5A1 gene are associated with glucose-galactose malabsorption in a large cohort of Old Order Amish.
    6. HPV18 E6 oncoprotein participates in the upregulation of SGLT1.
      Title: Regulation of Na(+)-coupled glucose carrier SGLT1 by human papillomavirus 18 E6 protein.
    7. The role of SGLT1 and SGLT2 in renal glucose reabsorption, and the potential for targeting these transporters in diabetes there are discussed.
      Title: Molecular determinants of renal glucose reabsorption. Focus on "Glucose transport by human renal Na+/D-glucose cotransporters SGLT1 and SGLT2".
    8. The role of SGLT1 and SGLT2 in renal glucose reabsorption are discussed.
      Title: Glucose transport by human renal Na+/D-glucose cotransporters SGLT1 and SGLT2.
    9. These observations support a role for AMPK in the regulation of Na+-coupled glucose transport.
      Title: Regulation of Na+-coupled glucose carrier SGLT1 by AMP-activated protein kinase.
    10. Observational study of gene-disease association. (HuGE Navigator)
      Title: Genetic variability of the fatty acid synthase pathway is not associated with prostate cancer risk in the European Prospective Investigation on Cancer (EPIC).
    Submit: New GeneRIF Correction See all (40)
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    Phenotypes

    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Glucose/galactose malabsorption

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    HIV-1 protein interactions

    Protein Gene Interaction Pubs
    Tat tat HIV-1 Tat induces Na-D-glucose symporter (SGLT-1) mis-sorting and inhibits glucose uptake in human enterocytes PubMed

    Go to the HIV-1, Human Protein Interaction Database

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    Interactions

    Products Interactant Other Gene Complex Source Pubs Description
    P13866 Heat shock 70 KD protein 1A HSPA1A    HPRD  PubMed  
    BioGRID:112414 BioGRID:109535 HSPA1A    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:112414 BioGRID:111108 PAWR    BioGRID  PubMed Affinity Capture-Western 
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    General gene information

    Markers

    Genotypes

    Homology

    Pathways from BioSystems

    • Bile secretion, organism-specific biosystem (from KEGG)
      Bile secretion, organism-specific biosystemBile is a vital secretion, essential for digestion and absorption of fats and fat-soluble vitamins in the small intestine. Moreover, bile is an important route of elimination for excess cholesterol a...
    • Bile secretion, conserved biosystem (from KEGG)
      Bile secretion, conserved biosystemBile is a vital secretion, essential for digestion and absorption of fats and fat-soluble vitamins in the small intestine. Moreover, bile is an important route of elimination for excess cholesterol a...
    • Carbohydrate digestion and absorption, organism-specific biosystem (from KEGG)
      Carbohydrate digestion and absorption, organism-specific biosystemDietary carbohydrate in humans and omnivorous animals is a major nutrient. The carbohydrates that we ingest vary from the lactose in milk to complex carbohydrates. These carbohydrates are digested t...
    • Carbohydrate digestion and absorption, conserved biosystem (from KEGG)
      Carbohydrate digestion and absorption, conserved biosystemDietary carbohydrate in humans and omnivorous animals is a major nutrient. The carbohydrates that we ingest vary from the lactose in milk to complex carbohydrates. These carbohydrates are digested t...
    • Hexose transport, organism-specific biosystem (from REACTOME)
      Hexose transport, organism-specific biosystemHexoses, notably fructose, glucose, and galactose, generated in the lumen of the small intestine by breakdown of dietary carbohydrate are taken up by enterocytes lining the microvilli of the small in...
    • Metabolism, organism-specific biosystem (from REACTOME)
      Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
    • Metabolism of carbohydrates, organism-specific biosystem (from REACTOME)
      Metabolism of carbohydrates, organism-specific biosystemThese pathways together are responsible for: 1) the extraction of energy and carbon skeletons for biosyntheses from dietary sugars and related molecules; 2) the short-term storage of glucose in the b...
    • Mineral absorption, organism-specific biosystem (from KEGG)
      Mineral absorption, organism-specific biosystemMinerals are one of the five fundamental groups of nutrients needed to sustain life. Of the minerals, calcium plays innumerable roles in our bodies, serving as a main component of bone as well as an ...
    • Mineral absorption, conserved biosystem (from KEGG)
      Mineral absorption, conserved biosystemMinerals are one of the five fundamental groups of nutrients needed to sustain life. Of the minerals, calcium plays innumerable roles in our bodies, serving as a main component of bone as well as an ...
    • Na+-dependent glucose transporters, organism-specific biosystem (from REACTOME)
      Na+-dependent glucose transporters, organism-specific biosystemTwo gene families are responsible for glucose transport in humans. SLC2 (encoding GLUTs) and SLC5 (encoding SGLTs) families mediate glucose absorption in the small intestine, glucose reabsorption in ...
    • SLC-mediated transmembrane transport, organism-specific biosystem (from REACTOME)
      SLC-mediated transmembrane transport, organism-specific biosystemProteins with transporting functions can be roughly classified into 3 categories: ATP-powered pumps, ion channels, and transporters. Pumps utilize the energy released by ATP hydrolysis to power the m...
    • Transmembrane transport of small molecules, organism-specific biosystem (from REACTOME)
      Transmembrane transport of small molecules, organism-specific biosystem
      Transmembrane transport of small molecules
    • Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds, organism-specific biosystem (from REACTOME)
      Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds, organism-specific biosystemHexoses like glucose, galactose and fructose serve as basic fuel molecules for eukaryotic cells. Indeed, glucose is the main energy source for mammalian cells. These sugars are unable to diffuse acro...

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    glucose:sodium symporter activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    symporter activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    transporter activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    carbohydrate metabolic process TAS
    Traceable Author Statement
    more info
    		  
    carbohydrate transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    glucose transport IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    hexose transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    hexose transport TAS
    Traceable Author Statement
    more info
    		  
    intestinal absorption IEA
    Inferred from Electronic Annotation
    more info
    		  
    ion transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    metanephros development IEA
    Inferred from Electronic Annotation
    more info
    		  
    small molecule metabolic process TAS
    Traceable Author Statement
    more info
    		  
    sodium ion transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    transmembrane transport TAS
    Traceable Author Statement
    more info
    		  
    Component Evidence Code Pubs
    apical plasma membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    brush border membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    cell-cell junction IEA
    Inferred from Electronic Annotation
    more info
    		  
    integral to plasma membrane TAS
    Traceable Author Statement
    more info
    		 PubMed 
    plasma membrane TAS
    Traceable Author Statement
    more info
    		  
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    General protein information

    Preferred Names
    sodium/glucose cotransporter 1
    Names
    sodium/glucose cotransporter 1
    Na+/glucose cotransporter 1
    high affinity sodium-glucose cotransporter
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    NCBI Reference Sequences (RefSeq)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_017045.1 RefSeqGene

      Range
      5001..74998
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000343.3 → NP_000334.1  sodium/glucose cotransporter 1 isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AK312948, DQ656053, Z83839
      Consensus CDS
      CCDS13902.1
      UniProtKB/Swiss-Prot
      P13866
      Related
      ENSP00000266088, OTTHUMP00000028869, ENST00000266088, OTTHUMT00000075656
      Conserved Domains (2) summary
      PRK10484
      Location:31 – 547
      Blast Score: 478
      PRK10484; putative transporter; Provisional
      cd11486
      Location:27 – 664
      Blast Score: 2720
      SLC5sbd_SGLT1; Na(+)/glucose cotransporter SGLT1;solute binding domain

    2. NM_001256314.1 → NP_001243243.1  sodium/glucose cotransporter 1 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks several 5' exons compared to variant 1. This variant represents translation initiation at a downstream AUG compared to variant 1; the 5'-most initiation codon, as used in variant 1, is associated with a weak Kozak sequence and a truncated ORF that would render the transcript a candidate for nonsense-mediated decay (NMD). Leaky scanning may allow translation initiation at the downstream AUG. The encoded protein (isoform 2) has a shorter N-terminus, compared to isoform 1.
      Source sequence(s)
      AK297665, M24847, Z74021, Z83839
      UniProtKB/TrEMBL
      B7Z4Q9
      UniProtKB/Swiss-Prot
      P13866
      Conserved Domains (1) summary
      cl00456
      Location:1 – 537
      Blast Score: 2314
      SLC5-6-like_sbd; Solute carrier families 5 and 6-like; solute binding domain

    RefSeqs of Annotated Genomes: Build 37.3

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh37.p5 Primary Assembly

    Genomic

    1. NC_000022.10 Reference GRCh37.p5 Primary Assembly

      Range
      32439019..32509016
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000154.1 Alternate HuRef

      Range
      15394743..15464755
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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    Related Sequences

    Nucleotide Protein
    Heading Accession and Version
    genomic AL022321.1 CAI19810.1
    genomic CH471095.1 EAW60006.1
    genomic L29339.1 AAB59448.1
    genomic Z74021.1 CAI18756.1
    genomic Z80998.1 CAI18759.1
    genomic Z83839.1 CAB06087.1
    genomic Z83849.1 CAI23589.1
    mRNA AI078794.1 None
    mRNA AK297665.1 BAH12645.1
    mRNA AK312948.1 BAG35789.1
    mRNA AK316184.1 BAH14555.1
    mRNA BC139839.1 AAI39840.2
    mRNA BM980416.1 None
    mRNA CR456579.1 CAG30465.1
    mRNA DA429018.1 None
    mRNA DA562836.1 None
    mRNA DQ656053.2 None
    mRNA M24847.1 AAA60320.1
    other-genetic BC139838.1 AAI39839.1
    other-genetic BC141435.1 AAI41436.1
    other-genetic BC146580.1 AAI46581.1
    other-genetic CU013176.1 CAK54607.1
    other-genetic CU013464.1 CAK54906.1
    Protein Accession Links
    GenPept Link UniProtKB Link
    P13866.1 GenPept UniProtKB/Swiss-Prot:P13866
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    Additional Links

    Additional Links

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
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