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SLC5A1

Chr 22q12.3

solute carrier family 5 member 1

Aliases:
D22S675, NAGT, SGLT-1
MANE:
ENST00000266088.9

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Intestinal failure or congenital diarrhoea

    BIALLELIC, autosomal or pseudoautosomal
  • Likely inborn error of metabolism

    BIALLELIC, autosomal or pseudoautosomal
  • Undiagnosed metabolic disorders

    BIALLELIC, autosomal or pseudoautosomal
  • Childhood onset dystonia, chorea or related movement disorder

Disease associations (Open Targets)

  • glucose-galactose malabsorption

    0.82
  • type 2 diabetes mellitus

    0.54
  • heart failure

    0.52
  • type 1 diabetes mellitus

    0.51
  • chronic kidney disease

    0.47
  • diabetes mellitus

    0.39
  • Glucose intolerance

    0.37
  • nasopharyngeal neoplasm

    0.37
  • diabetic kidney disease

    0.28
  • hypertrophic cardiomyopathy

    0.27

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Sodium/glucose cotransporter 1

Electrogenic Na(+)-coupled sugar symporter that actively transports D-glucose or D-galactose at the plasma membrane, with a Na(+) to sugar coupling ratio of 2:1. Transporter activity is driven by a transmembrane Na(+) electrochemical gradient set by the Na(+)/K(+) pump (PubMed:20980548, PubMed:34880492, PubMed:35077764, PubMed:8563765, PubMed:37217492). Has a primary role in the transport of dietary monosaccharides from enterocytes to blood. Responsible for the absorption of D-glucose or D-galactose across the apical brush-border membrane of enterocytes, whereas basolateral exit is provided by GLUT2. Additionally, functions as a D-glucose sensor in enteroendocrine cells, triggering the secretion of the incretins GCG and GIP that control food intake and energy homeostasis (By similarity) (PubMed:8563765). Together with SGLT2, functions in reabsorption of D-glucose from glomerular filtrate, playing a nonredundant role in the S3 segment of the proximal tubules (By similarity). Transports D-glucose into endometrial epithelial cells, controlling glycogen synthesis and nutritional support for the embryo as well as the decidual transformation of endometrium prior to conception (PubMed:28974690). Acts as a water channel enabling passive water transport across the plasma membrane in response to the osmotic gradient created upon sugar and Na(+) uptake. Has high water conductivity, comparable to aquaporins, and therefore is expected to play an important role in transepithelial water permeability, especially in the small intestine

Data sources: HGNC (CC BY 4.0), AlphaFold (CC BY 4.0, Jumper et al. Nature 2021), Genomics England PanelApp (CC BY 4.0), ClinGen, Open Targets (CC0), UniProt.

Not for sole clinical decision-making. Always verify against primary sources.