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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
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Genomic context

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See SLC5A1 in Genome Data Viewer
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
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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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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

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