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

    Gene ID: 6523, updated on 5-Jul-2015
    Official Symbol
    SLC5A1provided by HGNC
    Official Full Name
    solute carrier family 5 (sodium/glucose cotransporter), member 1provided by HGNC
    Primary source
    HGNC:HGNC:11036
    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]
    Orthologs
    See SLC5A1 in Epigenomics, MapViewer
    Location:
    22q12.3
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    107 current GRCh38.p2 (GCF_000001405.28) 22 NC_000022.11 (32043032..32113029)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (32439019..32509016)

    Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105372999 Neighboring gene ribosomal protein S17 pseudogene 16 Neighboring gene uncharacterized LOC105373000 Neighboring gene adaptor-related protein complex 1, beta 1 subunit pseudogene 1 Neighboring gene adaptor-related protein complex 1, beta 1 subunit pseudogene 2

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    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 Interaction Database

    • 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...
    • Inositol transporters, organism-specific biosystem (from REACTOME)
      Inositol transporters, organism-specific biosystemMyo-Inositol is a neutral cyclic polyol, abundant in mammalian tissues. It plays important roles; it is a precursor to phosphatidylinositols (PtdIns) and to the inositol phosphates (IP), which serve ...
    • 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...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    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 
    Process Evidence Code Pubs
    carbohydrate metabolic process TAS
    Traceable Author Statement
    more info
     
    glucose transport IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    hexose transport TAS
    Traceable Author Statement
    more info
     
    intestinal absorption 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
     
    extracellular exosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    integral component of plasma membrane TAS
    Traceable Author Statement
    more info
    PubMed 
    plasma membrane TAS
    Traceable Author Statement
    more info
     
    Preferred Names
    sodium/glucose cotransporter 1
    Names
    Na+/glucose cotransporter 1
    high affinity sodium-glucose cotransporter

    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_000343.3NP_000334.1  sodium/glucose cotransporter 1 isoform 1

      See identical proteins and their annotated locations for NP_000334.1

      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 (1) summary
      cd11486
      Location:27664
      SLC5sbd_SGLT1; Na(+)/glucose cotransporter SGLT1;solute binding domain
    2. NM_001256314.1NP_001243243.1  sodium/glucose cotransporter 1 isoform 2

      See identical proteins and their annotated locations for NP_001243243.1

      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
      Consensus CDS
      CCDS58805.1
      UniProtKB/Swiss-Prot
      P13866
      Related
      ENSP00000444898, ENST00000543737
      Conserved Domains (1) summary
      cl00456
      Location:1537
      SLC5-6-like_sbd; Solute carrier families 5 and 6-like; solute binding domain

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107

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

    Reference GRCh38.p2 Primary Assembly

    Genomic

    1. NC_000022.11 Reference GRCh38.p2 Primary Assembly

      Range
      32043032..32113029
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011530331.1XP_011528633.1  

      Conserved Domains (1) summary
      cl00456
      Location:27427
      SLC5-6-like_sbd; Solute carrier families 5 and 6-like; solute binding domain

    Alternate CHM1_1.1

    Genomic

    1. NC_018933.2 Alternate CHM1_1.1

      Range
      32398482..32468466
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)