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    SLC5A1 solute carrier family 5 member 1 [ Homo sapiens (human) ]

    Gene ID: 6523, updated on 5-Mar-2024

    Summary

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    Official Symbol
    SLC5A1provided by HGNC
    Official Full Name
    solute carrier family 5 member 1provided by HGNC
    Primary source
    HGNC:HGNC:11036
    See related
    Ensembl:ENSG00000100170 MIM:182380; AllianceGenome:HGNC:11036
    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; SGLT-1; 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]
    Expression
    Biased expression in duodenum (RPKM 262.7), small intestine (RPKM 154.2) and 1 other tissue See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    22q12.3
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (32043261..32113029)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (32507411..32577165)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (32439248..32509016)

    Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 2558 Neighboring gene RNA, 7SL, cytoplasmic 305, pseudogene Neighboring gene ribosomal protein S17 pseudogene 16 Neighboring gene uncharacterized LOC105373000 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:32519556-32520056 Neighboring gene AP1B1 pseudogene 1 Neighboring gene AP1B1 pseudogene 2

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Structural Basis of the Selective Sugar Transport in Sodium-Glucose Cotransporters. Kamitori K, et al. J Mol Biol, 2022 Mar 15. PMID 35077764
    2. Sodium-Dependent Glucose Transporter 1 (SGLT1) Stabled by HER2 Promotes Breast Cancer Cell Proliferation by Activation of the PI3K/Akt/mTOR Signaling Pathway in HER2+ Breast Cancer. Wang J, et al. Dis Markers, 2020. PMID 32377271, Free PMC Article
    3. Genetic Variants in SGLT1, Glucose Tolerance, and Cardiometabolic Risk. Seidelmann SB, et al. J Am Coll Cardiol, 2018 Oct 9. PMID 30286918, Free PMC Article
    4. Duodenal Sodium/Glucose Cotransporter 1 Expression Under Fasting Conditions Is Associated With Postload Hyperglycemia. Fiorentino TV, et al. J Clin Endocrinol Metab, 2017 Nov 1. PMID 28938485
    5. SLC5A1 Mutations in Saudi Arabian Patients With Congenital Glucose-Galactose Malabsorption. Al-Suyufi Y, et al. J Pediatr Gastroenterol Nutr, 2018 Feb. PMID 28753187

    See all (126) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. SLC5A1 Variants in Turkish Patients with Congenital Glucose-Galactose Malabsorption.
      Title: SLC5A1 Variants in Turkish Patients with Congenital Glucose-Galactose Malabsorption.
    2. Obesity and overweight are linked to increased sodium-glucose cotransporter 1 and glucose transporter 5 levels in duodenum.
      Title: Obesity and overweight are linked to increased sodium-glucose cotransporter 1 and glucose transporter 5 levels in duodenum.
    3. Decreased expression of Glucagon-like peptide-1 receptor and Sodium-glucose co-transporter 2 in patients with proliferative diabetic retinopathy.
      Title: Decreased expression of Glucagon-like peptide-1 receptor and Sodium-glucose co-transporter 2 in patients with proliferative diabetic retinopathy.
    4. Structure and mechanism of the SGLT family of glucose transporters.
      Title: Structure and mechanism of the SGLT family of glucose transporters.
    5. A risk model of gene signatures for predicting platinum response and survival in ovarian cancer.
      Title: A risk model of gene signatures for predicting platinum response and survival in ovarian cancer.
    6. New insight in understanding the contribution of SGLT1 in cardiac glucose uptake: evidence for a truncated form in mice and humans.
      Title: New insight in understanding the contribution of SGLT1 in cardiac glucose uptake: evidence for a truncated form in mice and humans.
    7. Sodium-Dependent Glucose Transporter 1 (SGLT1) Stabled by HER2 Promotes Breast Cancer Cell Proliferation by Activation of the PI3K/Akt/mTOR Signaling Pathway in HER2+ Breast Cancer.
      Title: Sodium-Dependent Glucose Transporter 1 (SGLT1) Stabled by HER2 Promotes Breast Cancer Cell Proliferation by Activation of the PI3K/Akt/mTOR Signaling Pathway in HER2+ Breast Cancer.
    8. Expression of glucose transporters in duodenal mucosa of patients with type 1 diabetes.
      Title: Expression of glucose transporters in duodenal mucosa of patients with type 1 diabetes.
    9. SGLT1 depletion results in decreased levels of phospho-EGFR, and as a result, the activity of downstream signalling pathways (such as AKT and ERK) is inhibited. Hence, targeting SGLT1 itself or the EGFR-SGLT1 interaction may provide novel therapeutics against triple-negative breast cancer.
      Title: SGLT1 is required for the survival of triple-negative breast cancer cells via potentiation of EGFR activity.
    10. This study showed that SGLT2 mRNA expression was lower in diabetic kidney disease compared with controls or glomerulonephritis and inversely related to interstitial fibrosis.
      Title: Renal SGLT mRNA expression in human health and disease: a study in two cohorts.
    Submit: New GeneRIF Correction See all GeneRIFs (86)

    Phenotypes

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

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Congenital glucose-galactose malabsorption
    MedGen: C0268186 OMIM: 606824 GeneReviews: Not available
    		Compare labs

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    HIV-1 interactions

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    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

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables D-glucose transmembrane transporter activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables alpha-glucoside transmembrane transporter activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables alpha-glucoside transmembrane transporter activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables alpha-glucoside transmembrane transporter activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables fucose transmembrane transporter activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables galactose transmembrane transporter activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables galactose:sodium symporter activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables glucose transmembrane transporter activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables glucose:sodium symporter activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables glucose:sodium symporter activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables glucose:sodium symporter activity TAS
    Traceable Author Statement
    more info
    		  
    enables myo-inositol:sodium symporter activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables pentose transmembrane transporter activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables water transmembrane transporter activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in alpha-glucoside transport IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in alpha-glucoside transport IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in alpha-glucoside transport ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    NOT involved_in chloride transmembrane transport IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in fucose transmembrane transport ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in galactose transmembrane transport ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in glucose import across plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in glucose import across plasma membrane IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    involved_in glucose transmembrane transport IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    acts_upstream_of_or_within glucose transmembrane transport IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in intestinal D-glucose absorption ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in intestinal hexose absorption TAS
    Traceable Author Statement
    more info
    		  
    involved_in myo-inositol transport ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in pentose transmembrane transport ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in renal glucose absorption ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in response to inorganic substance IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in sodium ion import across plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in sodium ion transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in transepithelial water transport IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in transport across blood-brain barrier IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    involved_in transport across blood-brain barrier NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in apical plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in apical plasma membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in brush border membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in early endosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in extracellular exosome HDA PubMed 
    located_in intracellular organelle ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in intracellular vesicle TAS
    Traceable Author Statement
    more info
    		 PubMed 
    located_in perinuclear region of cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    sodium/glucose cotransporter 1
    Names
    Na+/glucose cotransporter 1
    high affinity sodium-glucose cotransporter
    solute carrier family 5 (sodium/glucose cotransporter), member 1

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    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
      5230..74998
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000343.4 → NP_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
      B2R7E2, B7Z4Q9, B7ZA69, P13866
      UniProtKB/TrEMBL
      A4QPH0
      Related
      ENSP00000266088.4, ENST00000266088.9
      Conserved Domains (1) summary
      cd11486
      Location:27 → 664
      SLC5sbd_SGLT1; Na(+)/glucose cotransporter SGLT1;solute binding domain

    2. NM_001256314.2 → NP_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/TrEMBL
      A4QPH0
      Related
      ENSP00000444898.1, ENST00000543737.2
      Conserved Domains (1) summary
      cl00456
      Location:1 → 537
      SLC5-6-like_sbd; Solute carrier families 5 and 6-like; solute binding domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000022.11 Reference GRCh38.p14 Primary Assembly

      Range
      32043261..32113029
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011530331.2 → XP_011528633.1  sodium/glucose cotransporter 1 isoform X1

      Conserved Domains (1) summary
      cl00456
      Location:27 → 427
      SLC5-6-like_sbd; Solute carrier families 5 and 6-like; solute binding domain

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060946.1 Alternate T2T-CHM13v2.0

      Range
      32507411..32577165
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054325852.1 → XP_054181827.1  sodium/glucose cotransporter 1 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P13866.1 GenPept UniProtKB/Swiss-Prot:P13866

    Gene LinkOut

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

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